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Proteus Syndrome
Wikipedia
human disease characterized by an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels Proteus syndrome Other names Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome, Wiedemann syndrome A 7-year-old boy with Proteus syndrome, confirmed to have the AKT1 p.E17K somatic variant Specialty Medical genetics Proteus syndrome is a rare disorder with a genetic background [1] that can cause tissue overgrowth involving all three embryonic lineages. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development. [2] The clinical and radiographic manifestations of Proteus syndrome are highly variable. Yet, the orthopedic manifestations of the syndrome are unique. [3] [4] The syndrome is named after the Greek sea-god Proteus , who could change his shape. ... "Orthopaedic manifestations of Proteus syndrome in a child with literature update" . ... , Article in The Daily Telegraph External links [ edit ] Classification D OMIM : 176920 MeSH : D016715 DiseasesDB : 30070 External resources eMedicine : derm/721 ped/1912 Orphanet : 744 GeneReviews/NCBI/NIH/UW entry on PTEN Hamartoma Tumor Syndrome (PHTS) v t e Phakomatosis Angiomatosis Sturge–Weber syndrome Von Hippel–Lindau disease Hamartoma Tuberous sclerosis Hypothalamic hamartoma ( Pallister–Hall syndrome ) Multiple hamartoma syndrome Proteus syndrome Cowden syndrome Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Neurofibromatosis Type I Type II Other Abdallat–Davis–Farrage syndrome Ataxia telangiectasia Incontinentia pigmenti Peutz–Jeghers syndrome Encephalocraniocutaneous lipomatosis v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome
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Noonan Syndrome With Multiple Lentigines
Wikipedia
Rare autosomal dominant multi-system genetic condition Noonan syndrome with multiple lentigines (NSML) Other names LEOPARD syndrome, cardiocutaneous syndrome, Gorlin syndrome II, lentiginosis profusa syndrome, progressive cardiomyopathic lentiginosis, [1] : 550 Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, Moynahan syndrome Three-quarter facial view, first-generation patient showing slight prognathism and low set ears Specialty Medical genetics Noonan syndrome with multiple lentigines ( NSML ) which is part of a group called Ras / MAPK pathway syndromes, [2] is a rare autosomal dominant , [3] multisystem disease caused by a mutation in the protein tyrosine phosphatase , non-receptor type 11 gene ( PTPN11 ). ... PMID 19467855 . ^ Coppin BD, Temple IK (1997). "Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)" . ... PMID 9222968 . ^ Tullu MS, Muranjan MN, Kantharia VC, et al. (1 April 2000). "Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma" . ... S2CID 19570040 . ^ a b c d LEOPARD Syndrome at eMedicine ^ "LEOPARD Syndrome" . ... NSML at NIH / UW GeneTests Gorlin's syndrome II at Who Named It? DermAtlas 981603547 Dermnetnz DermIS v t e Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulators GTPase-activating protein Neurofibromatosis type I Watson syndrome Tuberous sclerosis Guanine nucleotide exchange factor Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1 G protein Heterotrimeic cAMP / GNAS1 : Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2 Monomeric RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF : SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3 MAP kinase Cardiofaciocutaneous syndrome Other kinase / phosphatase Tyrosine kinase BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency Serine/threonine kinase RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4 / WNK1 Pseudohypoaldosteronism 2 Tyrosine phosphatase PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis Signal transducing adaptor proteins EDARADD EDARADD Hypohidrotic ectodermal dysplasia SH3BP2 Cherubism LDB3 Zaspopathy Other NF2 Neurofibromatosis type II NOTCH3 CADASIL PRKAR1A Carney complex PRKAG2 Wolff–Parkinson–White syndrome PRKCSH PRKCSH Polycystic liver disease XIAP XIAP2 See also intracellular signaling peptides and proteinsPTPN11, RAF1, BRAF, MAP2K1, SOS1, PTEN, KRAS, HRAS, SHOC2, EPHA2, SOS2, RRAS, RIT1, LZTR1, RASA2, RASA1, NRAS, PPP1R13L, MRAS, MAP2K2, PPP1CB, A2ML1, AKT1, MAPK3, MTOR, NF1, PIK3CG, TSC1, CDC73, TESC, SASH1, ZHX2, DSP, EGF, EPHB2, FBN1, MAPK1, FXN, SLC12A3, GAB1, IRS1, NFATC4, PIK3CA, PIK3CB, PIK3CD, MAP2K7, ACP1
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Phakomatosis
Wikipedia
Phakomatoses , or phacomatosis pigmentovascularis (PPV), [1] is the term used for a group of rare syndromes [2] involving structures arising from the embryonic ectoderm . ... Non-tumour manifestations can include cataracts and deafness . [8] Tuberous sclerosis (Bourneville syndrome) [ edit ] A case of tuberous sclerosis showing facial angiofibromas in characteristic butterfly pattern. ... Individuals with the syndrome also often present with a brain abnormality, [1] leptomeningeal angioma, or glaucoma in the eye. [3] These three physical symptoms can occur in varying degrees of severity, and many individuals with the syndrome won’t present all three complications. [3] The impact of this condition on the brain is dependent on the location of the angioma. ... "Phacomatosis Pigmentovascularis: A New Syndrome? Report of Four Cases". Pediatric Dermatology . 4 (3): 189–196. doi : 10.1111/j.1525-1470.1987.tb00777.x . ... External links [ edit ] Classification D ICD - 10 : Q85 ICD - 9-CM : 759.5 - 759.6 MeSH : D020752 DiseasesDB : 31496 OMIM is an Online Catalog of Human Genes and Genetic Disorders v t e Phakomatosis Angiomatosis Sturge–Weber syndrome Von Hippel–Lindau disease Hamartoma Tuberous sclerosis Hypothalamic hamartoma ( Pallister–Hall syndrome ) Multiple hamartoma syndrome Proteus syndrome Cowden syndrome Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Neurofibromatosis Type I Type II Other Abdallat–Davis–Farrage syndrome Ataxia telangiectasia Incontinentia pigmenti Peutz–Jeghers syndrome Encephalocraniocutaneous lipomatosis
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Von Hippel–lindau Disease
Wikipedia
ISBN 978-0-443-04345-1 . ^ Frantzen, Carlijn; Links, Thera P.; Giles, Rachel H. (21 June 2012). "Von Hippel-Lindau Syndrome" . Von Hippel-Lindau Disease . ... S2CID 13783714 . ^ Calzada, MJ (March 2010). "Von Hippel-Lindau syndrome: molecular mechanisms of the disease". ... S2CID 29862078 . ^ Kim, JJ; Rini, BI; Hansel, DE (2010). Von Hippel Lindau syndrome . Advances in Experimental Medicine and Biology. 685 . pp. 228–49. doi : 10.1007/978-1-4419-6448-9_22 . ... Check date values in: |access-date= ( help ) External links [ edit ] Classification D ICD - 10 : Q85.8 ICD - 9-CM : 759.6 OMIM : 193300 MeSH : D006623 DiseasesDB : 14000 External resources eMedicine : ped/2417 oph/354 Patient UK : Von Hippel–Lindau disease GeneReviews : von Hippel-Lindau syndrome Orphanet : 892 GeneReviews/NCBI/NIH/UW entry on Von Hippel-Lindau Syndrome Von Hippel–Lindau Disease (VHL) at NINDS Von Hippel–Lindau syndrome at NLM Genetics Home Reference von Hippel–Lindau syndrome at CHORUS Hippel–Lindau disease at Who Named It? Online Mendelian Inheritance in Man (OMIM): 608537 (VHL gene) v t e Phakomatosis Angiomatosis Sturge–Weber syndrome Von Hippel–Lindau disease Hamartoma Tuberous sclerosis Hypothalamic hamartoma ( Pallister–Hall syndrome ) Multiple hamartoma syndrome Proteus syndrome Cowden syndrome Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Neurofibromatosis Type I Type II Other Abdallat–Davis–Farrage syndrome Ataxia telangiectasia Incontinentia pigmenti Peutz–Jeghers syndrome Encephalocraniocutaneous lipomatosis v t e Disorders of translation and posttranslational modification Translation Ribosome : Diamond–Blackfan anemia FMR1 Fragile X syndrome Fragile X-associated tremor/ataxia syndrome Premature ovarian failure 1 Initiation factor : Leukoencephalopathy with vanishing white matter snRNP : Retinitis pigmentosa 33 Posttranslational modification Protein folding Alzheimer's disease Huntington's disease Creutzfeldt–Jakob disease chaperonins: 3-Methylglutaconic aciduria 5 Protein targeting I-cell disease Ubiquitin E1 : X-linked spinal muscular atrophy 2 E3 : Johanson–Blizzard syndrome Von Hippel–Lindau disease 3-M syndrome Angelman syndrome Deubiquitinating enzyme : Machado–Joseph disease Aneurysmal bone cyst Multiple familial trichoepithelioma 1 SUMO OFC10 Other Multiple sulfatase deficiency Hyperproinsulinemia Ehlers–Danlos syndrome 6
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X-Linked Agammaglobulinemia
Wikipedia
X-linked agammaglobulinemia Other names X-linked hypogammaglobulinemia, Bruton type agammaglobulinemia, Bruton syndrome, sex-linked agammaglobulinemia [1] : 83 The disorder is passed on in an X-linked recessive pattern Specialty Immunology X-linked agammaglobulinemia ( XLA ) is a rare genetic disorder discovered in 1952 that affects the body's ability to fight infection . ... External links [ edit ] Classification D ICD - 10 : D80.0 ICD - 9-CM : 279.04 OMIM : 300300 MeSH : C537409 C537409, C537409 DiseasesDB : 1728 External resources MedlinePlus : 001307 eMedicine : ped/294 derm/858 GeneReviews/NCBI/NIH/UW entry on X-Linked Agammaglobulinemia v t e Lymphoid and complement disorders causing immunodeficiency Primary Antibody / humoral ( B ) Hypogammaglobulinemia X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy Dysgammaglobulinemia IgA deficiency IgG deficiency IgM deficiency Hyper IgM syndrome ( 1 2 3 4 5 ) Wiskott–Aldrich syndrome Hyper-IgE syndrome Other Common variable immunodeficiency ICF syndrome T cell deficiency ( T ) thymic hypoplasia : hypoparathyroid ( Di George's syndrome ) euparathyroid ( Nezelof syndrome Ataxia–telangiectasia ) peripheral: Purine nucleoside phosphorylase deficiency Hyper IgM syndrome ( 1 ) Severe combined (B+T) x-linked: X-SCID autosomal: Adenosine deaminase deficiency Omenn syndrome ZAP70 deficiency Bare lymphocyte syndrome Acquired HIV/AIDS Leukopenia : Lymphocytopenia Idiopathic CD4+ lymphocytopenia Complement deficiency C1-inhibitor ( Angioedema / Hereditary angioedema ) Complement 2 deficiency / Complement 4 deficiency MBL deficiency Properdin deficiency Complement 3 deficiency Terminal complement pathway deficiency Paroxysmal nocturnal hemoglobinuria Complement receptor deficiency v t e X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency Hematologic Haemophilia A Haemophilia B X-linked sideroblastic anemia Endocrine Androgen insensitivity syndrome / Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita Metabolic Amino acid : Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia : Adrenoleukodystrophy Carbohydrate metabolism : Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder : Fabry's disease Mucopolysaccharidosis : Hunter syndrome Purine–pyrimidine metabolism : Lesch–Nyhan syndrome Mineral : Menkes disease / Occipital horn syndrome Nervous system X-linked intellectual disability : Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism ( 1 ) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2 Skin and related tissue Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy Neuromuscular Becker's muscular dystrophy / Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1 Urologic Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus Bone / tooth AMELX Amelogenesis imperfecta No primary system Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome X-linked dominant X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia v t e Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulators GTPase-activating protein Neurofibromatosis type I Watson syndrome Tuberous sclerosis Guanine nucleotide exchange factor Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1 G protein Heterotrimeic cAMP / GNAS1 : Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2 Monomeric RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF : SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3 MAP kinase Cardiofaciocutaneous syndrome Other kinase / phosphatase Tyrosine kinase BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency Serine/threonine kinase RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4 / WNK1 Pseudohypoaldosteronism 2 Tyrosine phosphatase PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis Signal transducing adaptor proteins EDARADD EDARADD Hypohidrotic ectodermal dysplasia SH3BP2 Cherubism LDB3 Zaspopathy Other NF2 Neurofibromatosis type II NOTCH3 CADASIL PRKAR1A Carney complex PRKAG2 Wolff–Parkinson–White syndrome PRKCSH PRKCSH Polycystic liver disease XIAP XIAP2 See also intracellular signaling peptides and proteins
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Congenital Generalized Lipodystrophy
Wikipedia
The absence of adipose tissue where they normally occur causes the body to store fat in the remaining areas. [7] Common cardiovascular problems related to this syndrome are cardiac hypertrophy and arterial hypertension (high blood pressure ). [8] This disorder can also cause metabolic syndrome . ... "Congenital generalized lipodystrophy: Berardinelli syndrome. Report of two siblings". The Turkish Journal of Pediatrics . 37 (3): 241–6. ... "Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)" (PDF) . Arq. Bras. Cardiol . 75 (3): 243–8. doi : 10.1590/s0066-782x2000000900006 . ... "An undiagnosed endocrinometabolic syndrome: Report of 2 cases" . Journal of Clinical Endocrinology and Metabolism . 14 (2): 193–204. doi : 10.1210/jcem-14-2-193 . ... Further reading [ edit ] GeneReviews/NCBI/NIH/UW entry on Berardinelli-Seip Congenital Lipodystrophy External links [ edit ] Classification D ICD - 10 : E88.1 ICD - 9-CM : 272.6 OMIM : 608594 269700 612526 613327 MeSH : D052497 DiseasesDB : 34828 External resources eMedicine : article/1113171 GeneReviews : Berardinelli-Seip Congenital Lipodystrophy v t e Disorders of subcutaneous fat Panniculitis Lobular without vasculitis Cold Cytophagic histiocytic Factitial Gouty Pancreatic Traumatic needle-shaped clefts Subcutaneous fat necrosis of the newborn Sclerema neonatorum Post-steroid panniculitis Lipodermatosclerosis Weber–Christian disease Lupus erythematosus panniculitis Sclerosing lipogranuloma with vasculitis: Nodular vasculitis / Erythema induratum Septal without vasculitis: Alpha-1 antitrypsin deficiency panniculitis Erythema nodosum Acute Chronic with vasculitis: Superficial thrombophlebitis Lipodystrophy Acquired generalized: Acquired generalized lipodystrophy partial: Acquired partial lipodystrophy Centrifugal abdominal lipodystrophy HIV-associated lipodystrophy Lipoatrophia annularis localized: Localized lipodystrophy Congenital Congenital generalized lipodystrophy Familial partial lipodystrophy Marfanoid–progeroid–lipodystrophy syndrome Poland syndrome v t e Inherited disorders of trafficking / vesicular transport proteins Vesicle formation Lysosome / Melanosome : HPS1 – HPS7 Hermansky–Pudlak syndrome LYST Chédiak–Higashi syndrome COPII : SEC23A Cranio-lenticulo-sutural dysplasia COG7 CDOG IIE APC: AP1S2 X-linked intellectual disability AP3B1 Hermansky–Pudlak syndrome 2 AP4M1 CPSQ3 Rab ARL6 BBS3 RAB27A Griscelli syndrome 2 CHM Choroideremia MLPH Griscelli syndrome 3 Cytoskeleton Myosin : MYO5A Griscelli syndrome 1 Microtubule : SPG4 Hereditary spastic paraplegia 4 Kinesin : KIF5A Hereditary spastic paraplegia 10 Spectrin : SPTBN2 Spinocerebellar ataxia 5 Vesicle fusion Synaptic vesicle : SNAP29 CEDNIK syndrome STX11 Hemophagocytic lymphohistiocytosis 4 Caveolae : CAV1 Congenital generalized lipodystrophy 3 CAV3 Limb-girdle muscular dystrophy 2B , Long QT syndrome 9 Vacuolar protein sorting : VPS33B ARC syndrome VPS13B Cohen syndrome DYSF Distal muscular dystrophy See also vesicular transport proteins v t e Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulators GTPase-activating protein Neurofibromatosis type I Watson syndrome Tuberous sclerosis Guanine nucleotide exchange factor Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1 G protein Heterotrimeic cAMP / GNAS1 : Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2 Monomeric RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF : SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3 MAP kinase Cardiofaciocutaneous syndrome Other kinase / phosphatase Tyrosine kinase BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency Serine/threonine kinase RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4 / WNK1 Pseudohypoaldosteronism 2 Tyrosine phosphatase PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis Signal transducing adaptor proteins EDARADD EDARADD Hypohidrotic ectodermal dysplasia SH3BP2 Cherubism LDB3 Zaspopathy Other NF2 Neurofibromatosis type II NOTCH3 CADASIL PRKAR1A Carney complex PRKAG2 Wolff–Parkinson–White syndrome PRKCSH PRKCSH Polycystic liver disease XIAP XIAP2 See also intracellular signaling peptides and proteinsBSCL2, AGPAT2, CAV1, CAVIN1, PPARG, FOS, LMNA, ZMPSTE24, HNRNPUL2-BSCL2, LEP, KCNJ6, POLR3A, GZMH, FBN1, INSR, GARS1, AGPAT1, ADIPOQ, LPIN1, LPIN2, BEST1, SNAP23, AIFM1, ANGPTL3, SOST, SETD2, SETX, NOX1, SLC2A2, ACAT1, PLIN1, GCG, AGL, APRT, CAV3, DMD, EMD, ETFA, GART, GH1, PDE3B, GZMB, HIF1A, HNF4A, MAT1A, ADRB3, MUC1, PCYT1A, MFAP1
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Chylomicron Retention Disease
Wikipedia
Chylomicrons have a crucial role in fat absorption and transport, thus a deficiency in chylomicron functioning reduces available levels of dietary fats and fat-soluble vitamins. [3] Contents 1 History 2 Genetics 3 Physiology 4 Signs and symptoms 5 Diagnosis 6 Prognosis 7 Treatment 7.1 Proposed Treatment Plan 8 References History [ edit ] Chylomicron Retention Disease, also called Anderson's disease, is an autosomal recessive lipid malabsorption syndrome characterized by abnormally low amounts of cholesterol in the blood. ... Classification D ICD - 10 : E78.6 OMIM : 246700 MeSH : C535460 DiseasesDB : 33188 External resources Orphanet : 71 v t e Inborn error of lipid metabolism : dyslipidemia Hyperlipidemia Hypercholesterolemia / Hypertriglyceridemia Lipoprotein lipase deficiency/Type Ia Familial apoprotein CII deficiency/Type Ib Familial hypercholesterolemia/Type IIa Combined hyperlipidemia/Type IIb Familial dysbetalipoproteinemia/Type III Familial hypertriglyceridemia/Type IV Xanthoma/Xanthomatosis Hypolipoproteinemia Hypoalphalipoproteinemia/HDL Lecithin cholesterol acyltransferase deficiency Tangier disease Hypobetalipoproteinemia/LDL Abetalipoproteinemia Apolipoprotein B deficiency Chylomicron retention disease Lipodystrophy Barraquer–Simons syndrome Other Lipomatosis Adiposis dolorosa Lipoid proteinosis APOA1 familial renal amyloidosis v t e Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulators GTPase-activating protein Neurofibromatosis type I Watson syndrome Tuberous sclerosis Guanine nucleotide exchange factor Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1 G protein Heterotrimeic cAMP / GNAS1 : Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2 Monomeric RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF : SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3 MAP kinase Cardiofaciocutaneous syndrome Other kinase / phosphatase Tyrosine kinase BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency Serine/threonine kinase RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4 / WNK1 Pseudohypoaldosteronism 2 Tyrosine phosphatase PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis Signal transducing adaptor proteins EDARADD EDARADD Hypohidrotic ectodermal dysplasia SH3BP2 Cherubism LDB3 Zaspopathy Other NF2 Neurofibromatosis type II NOTCH3 CADASIL PRKAR1A Carney complex PRKAG2 Wolff–Parkinson–White syndrome PRKCSH PRKCSH Polycystic liver disease XIAP XIAP2 See also intracellular signaling peptides and proteins
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Hypohidrotic Ectodermal Dysplasia
Wikipedia
Hypohidrotic ectodermal dysplasia Other names Anhidrotic ectodermal dysplasia , Christ-Siemens-Touraine syndrome [1] : 570 This condition is inherited in an X-linked recessive manner. ... Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder. [ citation needed ] Terminology [ edit ] The eponym Christ-Siemens-Touraine syndrome was named after its discoverers: Josef Christ (1871–1948), a German dentist and physician from Wiesbaden , who was the first physician to identify the condition, Hermann Werner Siemens (1891–1969), a pioneering German dermatologist from Charlottenburg , who clearly identified its pathological characteristics in the early 1930s, and Albert Touraine (1883–1961), a French dermatologist who likewise noted and identified additional characteristics of the disease in the late 1930s. [ citation needed ] Notable individuals [ edit ] Michael Berryman , Saturn Award -nominated character actor See also [ edit ] Hermann Werner Siemens List of cutaneous conditions Albert Touraine List of radiographic findings associated with cutaneous conditions List of dental abnormalities associated with cutaneous conditions References [ edit ] ^ James, William; Berger, Timothy; Elston, Dirk (2005). ... External links [ edit ] GeneReview/NIH/UW entry on Hypohidrotic Ectodermal Dysplasia Hypohidrotic ectodermal dysplasia at NLM Genetics Home Reference Classification D ICD - 10 : Q82.4 ICD - 9-CM : 757.31 OMIM : 305100 224900 , 129490 MeSH : D053358 DiseasesDB : 29810 External resources GeneReviews : Hypohidrotic Ectodermal Dysplasia v t e Congenital malformations and deformations of integument / skin disease Genodermatosis Congenital ichthyosis / erythrokeratodermia AD Ichthyosis vulgaris AR Congenital ichthyosiform erythroderma : Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin-type ichthyosis Netherton syndrome Zunich–Kaye syndrome Sjögren–Larsson syndrome XR X-linked ichthyosis Ungrouped Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix EB and related EBS EBS-K EBS-WC EBS-DM EBS-OG EBS-MD EBS-MP JEB JEB-H Mitis Generalized atrophic JEB-PA DEB DDEB RDEB related: Costello syndrome Kindler syndrome Laryngoonychocutaneous syndrome Skin fragility syndrome Ectodermal dysplasia Naegeli syndrome / Dermatopathia pigmentosa reticularis Hay–Wells syndrome Hypohidrotic ectodermal dysplasia Focal dermal hypoplasia Ellis–van Creveld syndrome Rapp–Hodgkin syndrome / Hay–Wells syndrome Elastic / Connective Ehlers–Danlos syndromes Cutis laxa ( Gerodermia osteodysplastica ) Popliteal pterygium syndrome Pseudoxanthoma elasticum Van der Woude syndrome Hyperkeratosis / keratinopathy PPK diffuse : Diffuse epidermolytic palmoplantar keratoderma Diffuse nonepidermolytic palmoplantar keratoderma Palmoplantar keratoderma of Sybert Meleda disease syndromic connexin Bart–Pumphrey syndrome Clouston's hidrotic ectodermal dysplasia Vohwinkel syndrome Corneodermatoosseous syndrome plakoglobin Naxos syndrome Scleroatrophic syndrome of Huriez Olmsted syndrome Cathepsin C Papillon–Lefèvre syndrome Haim–Munk syndrome Camisa disease focal : Focal palmoplantar keratoderma with oral mucosal hyperkeratosis Focal palmoplantar and gingival keratosis Howel–Evans syndrome Pachyonychia congenita Pachyonychia congenita type I Pachyonychia congenita type II Striate palmoplantar keratoderma Tyrosinemia type II punctate : Acrokeratoelastoidosis of Costa Focal acral hyperkeratosis Keratosis punctata palmaris et plantaris Keratosis punctata of the palmar creases Schöpf–Schulz–Passarge syndrome Porokeratosis plantaris discreta Spiny keratoderma ungrouped: Palmoplantar keratoderma and spastic paraplegia desmoplakin Carvajal syndrome connexin Erythrokeratodermia variabilis HID / KID Other Meleda disease Keratosis pilaris ATP2A2 Darier's disease Dyskeratosis congenita Lelis syndrome Dyskeratosis congenita Keratolytic winter erythema Keratosis follicularis spinulosa decalvans Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome Keratosis pilaris atrophicans faciei Keratosis pilaris Other cadherin EEM syndrome immune system Hereditary lymphedema Mastocytosis / Urticaria pigmentosa Hailey–Hailey see also Template:Congenital malformations and deformations of skin appendages , Template:Phakomatoses , Template:Pigmentation disorders , Template:DNA replication and repair-deficiency disorder Developmental anomalies Midline Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii Nevus Capillary hemangioma Port-wine stain Nevus flammeus nuchae Other/ungrouped Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal–Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark v t e X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency Hematologic Haemophilia A Haemophilia B X-linked sideroblastic anemia Endocrine Androgen insensitivity syndrome / Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita Metabolic Amino acid : Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia : Adrenoleukodystrophy Carbohydrate metabolism : Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder : Fabry's disease Mucopolysaccharidosis : Hunter syndrome Purine–pyrimidine metabolism : Lesch–Nyhan syndrome Mineral : Menkes disease / Occipital horn syndrome Nervous system X-linked intellectual disability : Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism ( 1 ) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2 Skin and related tissue Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy Neuromuscular Becker's muscular dystrophy / Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1 Urologic Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus Bone / tooth AMELX Amelogenesis imperfecta No primary system Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome X-linked dominant X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia v t e Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulators GTPase-activating protein Neurofibromatosis type I Watson syndrome Tuberous sclerosis Guanine nucleotide exchange factor Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1 G protein Heterotrimeic cAMP / GNAS1 : Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2 Monomeric RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF : SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3 MAP kinase Cardiofaciocutaneous syndrome Other kinase / phosphatase Tyrosine kinase BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency Serine/threonine kinase RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4 / WNK1 Pseudohypoaldosteronism 2 Tyrosine phosphatase PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis Signal transducing adaptor proteins EDARADD EDARADD Hypohidrotic ectodermal dysplasia SH3BP2 Cherubism LDB3 Zaspopathy Other NF2 Neurofibromatosis type II NOTCH3 CADASIL PRKAR1A Carney complex PRKAG2 Wolff–Parkinson–White syndrome PRKCSH PRKCSH Polycystic liver disease XIAP XIAP2 See also intracellular signaling peptides and proteins v t e Cell surface receptor deficiencies G protein-coupled receptor (including hormone ) Class A TSHR ( Congenital hypothyroidism 1 ) LHCGR ( Luteinizing hormone insensitivity , Leydig cell hypoplasia , Male-limited precocious puberty ) FSHR ( Follicle-stimulating hormone insensitivity , XX gonadal dysgenesis ) GnRHR ( Gonadotropin-releasing hormone insensitivity ) EDNRB ( ABCD syndrome , Waardenburg syndrome 4a , Hirschsprung's disease 2 ) AVPR2 ( Nephrogenic diabetes insipidus 1 ) PTGER2 ( Aspirin-induced asthma ) Class B PTH1R ( Jansen's metaphyseal chondrodysplasia ) Class C CASR ( Familial hypocalciuric hypercalcemia ) Class F FZD4 ( Familial exudative vitreoretinopathy 1 ) Enzyme-linked receptor (including growth factor ) RTK ROR2 ( Robinow syndrome ) FGFR1 ( Pfeiffer syndrome , KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome , Antley–Bixler syndrome , Pfeiffer syndrome , Crouzon syndrome , Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia , Hypochondroplasia , Thanatophoric dysplasia , Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism , Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin / Alk-1 / SMAD4 ( Hereditary hemorrhagic telangiectasia ) TGFBR1 / TGFBR2 ( Loeys–Dietz syndrome ) GC GUCY2D ( Leber's congenital amaurosis 1 ) JAK-STAT Type I cytokine receptor : GH ( Laron syndrome ) CSF2RA ( Surfactant metabolism dysfunction 4 ) MPL ( Congenital amegakaryocytic thrombocytopenia ) TNF receptor TNFRSF1A ( TNF receptor associated periodic syndrome ) TNFRSF13B ( Selective immunoglobulin A deficiency 2 ) TNFRSF5 ( Hyper-IgM syndrome type 3 ) TNFRSF13C ( CVID4 ) TNFRSF13B ( CVID2 ) TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A ) Lipid receptor LRP : LRP2 ( Donnai–Barrow syndrome ) LRP4 ( Cenani–Lenz syndactylism ) LRP5 ( Worth syndrome , Familial exudative vitreoretinopathy 4 , Osteopetrosis 1 ) LDLR ( LDLR Familial hypercholesterolemia ) Other/ungrouped Immunoglobulin superfamily : AGM3, 6 Integrin : LAD1 Glanzmann's thrombasthenia Junctional epidermolysis bullosa with pyloric atresia EDAR ( EDAR hypohidrotic ectodermal dysplasia ) PTCH1 ( Nevoid basal-cell carcinoma syndrome ) BMPR1A ( BMPR1A juvenile polyposis syndrome ) IL2RG ( X-linked severe combined immunodeficiency ) See also cell surface receptors v t e Extracellular ligand disorders Cytokine EDA Hypohidrotic ectodermal dysplasia Camurati–Engelmann disease Ephrin Craniofrontonasal dysplasia WNT Tetra-amelia syndrome TGF OFC 11 Fas ligand Autoimmune lymphoproliferative syndrome 1B Endothelin EDN3 Waardenburg syndrome IVb Hirschsprung's disease 4 Other DHH ( DHH XY gonadal dysgenesis ) BMP15 ( Premature ovarian failure 4 ) TSHB ( Congenital hypothyroidism 4 ) See also intercellular signaling peptides and proteinsEDA, EDARADD, EDAR, EDA2R, TRAF6, IKBKG, TNF, HAND2, GJB6, WNT10A, NFKBIA, FN1, LEF1, CD38, XIST, MADCAM1, CXCR4, NR4A3, GOLPH3, KDF1, BMS1, ORAI1, TNFRSF1A, TNFRSF13B, TAB2, ACACA, STAT1, GH1, CDC42, CTNNB1, EFNB1, EGFR, ELANE, G6PD, GFI1, IFNG, FAS, IFNGR1, KRT19, LTB, PGK1, PGK1P1, PKP1, PTGS2, RAC1
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Pot1 Tumor Predisposition
Gene_reviews
Autosomal Dominant Tumor Predisposition Syndromes of Interest in the Differential Diagnosis of POT1 Tumor Predisposition View in own window Cancer Type Gene(s) Associated Disorder / Reference Cutaneous melanoma BAP1 BAP1 tumor predisposition syndrome BRCA2 BRCA1 - and BRCA2 -associated hereditary breast and ovarian cancer CDK4 Susceptibility to cutaneous malignant melanoma 3 (OMIM 609048) CDKN2A Hereditary melanoma/pancreatic cancer syndrome (OMIM 606719) MITF Susceptibility to cutaneous malignant melanoma 8 (OMIM 614456) PTEN PTEN hamartoma tumor syndrome (incl Cowden syndrome) TERT Susceptibility to cutaneous malignant melanoma 9 (OMIM 615134) Chronic lymphocytic leukemia Unknown Chronic lymphocytic leukemia (OMIM 151400) Angiosarcoma TP53 Li-Fraumeni syndrome Glioma NF1 Neurofibromatosis 1 NF2 Neurofibromatosis 2 TP53 Li-Fraumeni syndrome EPCAM MLH1 MSH2 MSH6 PMS2 Lynch syndrome Constitutional mismatch repair deficiency 1 1. ... Beginning at age 18 yrs: In persons in families fulfilling LFS or LFL 1 criteria In persons w/personal & family history of non-cutaneous, non-brain malignancies Brain tumors (glioma) Brain MRI w/& w/o contrast Beginning at age 18 yrs LFS = Li-Fraumeni syndrome; LFL = Li-Fraumeni like syndrome 1. See OMIM 151623 for description of Li-Fraumeni like syndrome criteria Treatment of Manifestations The treatments for POT1 -TPD tumors are those used in standard practice. ... Due to the similarity to Li-Fraumeni syndrome (LFS) and Li-Fraumeni-like syndrome, it seems appropriate to employ screening similar to that used in LFS. ... Brain tumors (glioma) Brain MRI 2 Consider every 1-2 years depending on family history beginning at age 18 yrs. LFS = Li-Fraumeni syndrome; LFL = Li-Fraumeni like syndrome 1.
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Neurofibromatosis
Wikipedia
The normal function of the SMARCB1 gene is to encode a protein called SMARCB1 that is part of a larger protein complex whose function is not completely understood. [11] The complex including SMARCB1 plays a role in tumor suppression. [11] The mutation of the SMARCB1 gene causes a loss of function in the complex leading to the formation of tumors indicative of schwannomatosis. [11] Diagnosis [ edit ] The neurofibromatoses are considered as RASopathies and as members of the neurocutaneous syndromes ( phakomatoses ). [22] The diagnosis of neurofibromatosis is done via the following means: [23] Radiograph MRI or CT scan EEG Slit-lamp examination Genetic testing Histology Differential diagnosis [ edit ] Conditions similar to NF include: LEOPARD syndrome [24] Legius syndrome [25] Proteus syndrome [26] Macrodystrophia lipomatosa [ citation needed ] Klippel–Trénaunay syndrome [ citation needed ] Parkes Weber syndrome [ citation needed ] Treatment [ edit ] Surgical removal of tumors is an option; however, the risks involved should be assessed first. [27] With regard to OPG (optic pathway gliomas), the preferred treatment is chemotherapy. ... Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Dolan, Cynthia R.; Fong, Chin-To (eds.). Legius Syndrome . Seattle (WA): University of Washington, Seattle. ... "Orthopaedic manifestations of Proteus syndrome in a child with literature update" . ... National Institute of Neurological Disorders and Stroke - information on Neurofibromatosis Classification D ICD - 10 : Q85.0 ICD - 9-CM : 237.7 ICD-O : M9540/0 OMIM : 162200 101000 , 162091 MeSH : D017253 External resources eMedicine : derm/287 Patient UK : Neurofibromatosis v t e Tumours of the nervous system Endocrine Sellar : Craniopharyngioma Pituicytoma Other: Pinealoma CNS Neuroepithelial ( brain tumors , spinal tumors ) Glioma Astrocyte Astrocytoma Pilocytic astrocytoma Pleomorphic xanthoastrocytoma Subependymal giant cell astrocytoma Fibrillary astrocytoma Anaplastic astrocytoma Glioblastoma multiforme Oligodendrocyte Oligodendroglioma Anaplastic oligodendroglioma Ependyma Ependymoma Subependymoma Choroid plexus Choroid plexus tumor Choroid plexus papilloma Choroid plexus carcinoma Multiple/unknown Oligoastrocytoma Gliomatosis cerebri Gliosarcoma Mature neuron Ganglioneuroma : Ganglioglioma Retinoblastoma Neurocytoma Dysembryoplastic neuroepithelial tumour Lhermitte–Duclos disease PNET Neuroblastoma Esthesioneuroblastoma Ganglioneuroblastoma Medulloblastoma Atypical teratoid rhabdoid tumor Primitive Medulloepithelioma Meninges Meningioma Hemangiopericytoma Hematopoietic Primary central nervous system lymphoma PNS : Nerve sheath tumor Cranial and paraspinal nerves Neurofibroma Neurofibromatosis Neurilemmoma / Schwannoma Acoustic neuroma Malignant peripheral nerve sheath tumor Other WHO classification of the tumors of the central nervous system Note: Not all brain tumors are of nervous tissue, and not all nervous tissue tumors are in the brain (see brain metastasis ). v t e Phakomatosis Angiomatosis Sturge–Weber syndrome Von Hippel–Lindau disease Hamartoma Tuberous sclerosis Hypothalamic hamartoma ( Pallister–Hall syndrome ) Multiple hamartoma syndrome Proteus syndrome Cowden syndrome Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Neurofibromatosis Type I Type II Other Abdallat–Davis–Farrage syndrome Ataxia telangiectasia Incontinentia pigmenti Peutz–Jeghers syndrome Encephalocraniocutaneous lipomatosis Authority control GND : 4171581-0 NDL : 00577300
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Central Nervous System Tumor
Wikipedia
These include tuberous sclerosis , Von Hippel-Lindau disease , Li-Fraumeni syndrome , Gorlin syndrome , Turcot syndrome , Cowden Syndrome and neurofibromatosis types 1 and 2 ( NF1 / NF2 ). [10] Patients suffering from NF1 have higher risks of having schwannomas , meningiomas , and some types of gliomas .TP53, APC, BAP1, MLH1, SMARCB1, EGFR, EWSR1, EPHB2, SMARCA4, RTEL1, STN1, LRIG1, ACOT11, ETFA, MAML2, SLC25A24, GOLGA3, LRRC31, POLR3B, KIF26B, SLC16A8, LMF1, SMYD3, IDH1, RHBDF1, RAVER2, HEATR3, MDM4, CCDC26, C2orf80, RNU6-1318P, MIR4300HG, RTEL1-TNFRSF6B, TRAF5, WT1, ZBTB16, CDKN2B-AS1, BRAF, SLC35A3, AKT3, AKAP6, POLR2A, PHLDB1, VTI1A, DBT, IDH2, NF2, GFAP, MYCN, NES, BCOR, VEGFA, MAP2K7, MRC1, MYC, NKX2-1, LAMC2, MIR34A, EPO, CSF2, BCL2, MIR200A, MVP, TCL1B, MIR21, F2RL3, KAT2B, PROM1, ULK1, TYR, GSTK1, XRCC6P5, MIR367, MIA, TCL1A, C20orf181, CD24, H3C9P, VHL, COMMD3-BMI1, OLIG2, PWAR4, YAP1, GOPC, KIAA1549, NT5C3A, LIN28A, GAL, PPP1R2C, CD274, SETD2, CD276, MINDY4, PYGO2, SGSM3, AZIN2, SLCO6A1, PRAME, FOXR2, ZHX2, RASSF1, GADL1, AGR2, PARP1, SDHB, TTF1, CTNNB1, DLG3, DRD4, EPHA2, ERCC1, FAP, FGFR1, KAT2A, GLS, H3-3A, H3-3B, HGF, HRG, HSPA4, IGFBP2, IL4, DES, CDKN2A, IL10, CDKN1A, ALK, AMBP, ANXA2, APOD, APOE, AQP1, ATRX, BMI1, BRCA2, DDR1, CALCR, CALR, CAPG, CDH1, CDK4, CXCL8, MAK, TPI1, PLG, MAPK1, PTGS2, PTPRC, RAF1, ROS1, S100A4, SAI1, CCL2, ALB, SLAMF1, SLC6A8, SMO, SOX10, AURKA, TF, PML, PLAU, CD46, PIK3CG, MEN1, MGMT, CD99, MNAT1, MSH2, MT1E, COX2, MTHFR, NRAS, PAWR, PDGFRA, PIK3C3, PIK3CA, PIK3CB, PIK3CD, MTCO2P12
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Li–fraumeni Syndrome
Wikipedia
Li–Fraumeni syndrome Other names Sarcoma family syndrome of Li and Fraumeni Li–Fraumeni syndrome is inherited via an autosomal dominant manner Specialty Oncology , medical genetics , neurology Li–Fraumeni syndrome is a rare, autosomal dominant , hereditary disorder [1] that predisposes carriers to cancer development. ... Fraumeni, Jr. , who first recognized the syndrome after reviewing the medical records and death certificates of 648 childhood rhabdomyosarcoma patients. [2] This syndrome is also known as the sarcoma, breast, leukaemia and adrenal gland ( SBLA ) syndrome . ... Other tumours seen in this syndrome include leukemia , lymphoma , and adrenocortical carcinoma. ... "A Case of Late-Onset Li-Fraumeni-like Syndrome with Unilateral Breast Cancer" . ... Li–Fraumeni syndrome , in the National Library of Medicine Genetics Home Reference (an introduction to the disease) Li–Fraumeni Syndrome by Katherine A Schneider and Frederick Li, in GeneReviews, a section of GeneTests, published online by the University of Washington with funds from the National Institutes of Health Li–Fraumeni syndrome; LFS1 , entry in Online Mendelian Inheritance in Man (OMIM), published by Johns Hopkins University and the National Institutes of Health External links [ edit ] Classification D ICD - 9-CM : 758.3 OMIM : 151623 MeSH : D016864 DiseasesDB : 7450 External resources eMedicine : ped/1305 Orphanet : 524 v t e Metabolic disease : DNA replication and DNA repair-deficiency disorder DNA replication Separation/initiation: RNASEH2A Aicardi–Goutières syndrome 4 Termination/ telomerase : DKC1 Dyskeratosis congenita DNA repair Nucleotide excision repair Cockayne syndrome / DeSanctis–Cacchione syndrome Thymine dimer Xeroderma pigmentosum IBIDS syndrome MSI / DNA mismatch repair Hereditary nonpolyposis colorectal cancer Muir–Torre syndrome Mismatch repair cancer syndrome MRN complex Ataxia telangiectasia Nijmegen breakage syndrome Other RecQ helicase Bloom syndrome Werner syndrome Rothmund–Thomson syndrome / Rapadilino syndrome Fanconi anemia Li-Fraumeni syndrome Severe combined immunodeficiency v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions ) v t e Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulators GTPase-activating protein Neurofibromatosis type I Watson syndrome Tuberous sclerosis Guanine nucleotide exchange factor Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1 G protein Heterotrimeic cAMP / GNAS1 : Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2 Monomeric RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF : SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3 MAP kinase Cardiofaciocutaneous syndrome Other kinase / phosphatase Tyrosine kinase BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency Serine/threonine kinase RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4 / WNK1 Pseudohypoaldosteronism 2 Tyrosine phosphatase PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis Signal transducing adaptor proteins EDARADD EDARADD Hypohidrotic ectodermal dysplasia SH3BP2 Cherubism LDB3 Zaspopathy Other NF2 Neurofibromatosis type II NOTCH3 CADASIL PRKAR1A Carney complex PRKAG2 Wolff–Parkinson–White syndrome PRKCSH PRKCSH Polycystic liver disease XIAP XIAP2 See also intracellular signaling peptides and proteinsTP53, CHEK2, MDM2, CDKN2A, BRCA2, BRCA1, EGFR, ERBB2, PTEN, PKM, RPS19, IDH1, H2AX, RNASE3, CYP19A1, RAF1, DDX41, MIR605, RUNX1, ANKRD26, AHSA2P, OCLN, DOCK11, SFRP2, SHH, SKP2, SMARCB1, SRP72, TERC, TOP2B, RBM17, ZDHHC9, WT1, BAP1, TWSG1, CREG1, BCL10, RECQL4, PLXNA3, DLL4, AHSA1, RALBP1, CPSF6, AR, NF1, RB1, DCN, B2M, BCL2, CAV1, CD44, CDH1, CDK2, CDKN1A, CDKN2B, CEBPA, CHEK1, CMM, ATF2, DCK, DNA2, PCNA, ESR1, ETV6, GATA2, HIF1A, HSP90AA1, IFNA1, IFNA13, IGFBP7, IRF7, MLH1, MUTYH, ATM, NF2, H3P10
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Coffin–lowry Syndrome
Wikipedia
This testing can be used to confirm but not rule out the diagnosis of Coffin–Lowry syndrome because not all affected individuals have a detectable mutation. [6] Treatment [ edit ] There is no cure for Coffin–Lowry syndrome. ... Coffin–Lowry Syndrome . 16 July 2002 [Updated 1 February 2018. ... "Chewing and Swallowing Training Program in Coffin-Lowry Syndrome" . ^ "Coffin Lowry Syndrome - NORD (National Organization for Rare Disorders)" . ... L. (2019, November 11). COFFIN-LOWRY SYNDROME; CLS. Retrieved from https://www.omim.org/entry/303600 ^ "Home" . www.clsf.info . ^ "Coffin–Lowry Syndrome Foundation" . ... External links [ edit ] Classification D ICD - 10 : Q87.8 ICD - 9-CM : 759.89 OMIM : 303600 MeSH : D038921 DiseasesDB : 2934 GeneReviews/UW/NIH entry on Coffin–Lowry syndrome http://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome v t e X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency Hematologic Haemophilia A Haemophilia B X-linked sideroblastic anemia Endocrine Androgen insensitivity syndrome / Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita Metabolic Amino acid : Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia : Adrenoleukodystrophy Carbohydrate metabolism : Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder : Fabry's disease Mucopolysaccharidosis : Hunter syndrome Purine–pyrimidine metabolism : Lesch–Nyhan syndrome Mineral : Menkes disease / Occipital horn syndrome Nervous system X-linked intellectual disability : Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism ( 1 ) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2 Skin and related tissue Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy Neuromuscular Becker's muscular dystrophy / Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1 Urologic Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus Bone / tooth AMELX Amelogenesis imperfecta No primary system Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome X-linked dominant X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia v t e Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulators GTPase-activating protein Neurofibromatosis type I Watson syndrome Tuberous sclerosis Guanine nucleotide exchange factor Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1 G protein Heterotrimeic cAMP / GNAS1 : Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2 Monomeric RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF : SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3 MAP kinase Cardiofaciocutaneous syndrome Other kinase / phosphatase Tyrosine kinase BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency Serine/threonine kinase RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4 / WNK1 Pseudohypoaldosteronism 2 Tyrosine phosphatase PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis Signal transducing adaptor proteins EDARADD EDARADD Hypohidrotic ectodermal dysplasia SH3BP2 Cherubism LDB3 Zaspopathy Other NF2 Neurofibromatosis type II NOTCH3 CADASIL PRKAR1A Carney complex PRKAG2 Wolff–Parkinson–White syndrome PRKCSH PRKCSH Polycystic liver disease XIAP XIAP2 See also intracellular signaling peptides and proteins
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Mccune–albright Syndrome
Wikipedia
The mutation that causes McCune–Albright syndrome arises very early during embryogenesis. ... "Fibrous Dysplasia/McCune-Albright Syndrome: A Rare, Mosaic Disease of Gα s Activation" . ... "Fibrous Dysplasia/McCune-Albright Syndrome". Fibrous Dysplasia/McCune-Albright Syndrome Gene Reviews . ... PMID 29192304 . ^ Brown, Rebecca J.; Kelly, Marilyn H.; Collins, Michael T. (April 2010). "Cushing Syndrome in the McCune-Albright Syndrome" . ... External links [ edit ] GeneReviews entry for fibrous dysplasia/McCune–Albright Syndrome Classification D ICD - 10 : Q78.1 ICD - 9-CM : 756.54 OMIM : 174800 MeSH : D005359 DiseasesDB : 7880 SNOMED CT : 726029005 External resources MedlinePlus : 001217 eMedicine : ped/1386 Patient UK : McCune–Albright syndrome Orphanet : 562 v t e Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulators GTPase-activating protein Neurofibromatosis type I Watson syndrome Tuberous sclerosis Guanine nucleotide exchange factor Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1 G protein Heterotrimeic cAMP / GNAS1 : Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2 Monomeric RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF : SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3 MAP kinase Cardiofaciocutaneous syndrome Other kinase / phosphatase Tyrosine kinase BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency Serine/threonine kinase RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4 / WNK1 Pseudohypoaldosteronism 2 Tyrosine phosphatase PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis Signal transducing adaptor proteins EDARADD EDARADD Hypohidrotic ectodermal dysplasia SH3BP2 Cherubism LDB3 Zaspopathy Other NF2 Neurofibromatosis type II NOTCH3 CADASIL PRKAR1A Carney complex PRKAG2 Wolff–Parkinson–White syndrome PRKCSH PRKCSH Polycystic liver disease XIAP XIAP2 See also intracellular signaling peptides and proteins
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Gastric Cancer
Omim
Gastric cancer is a manifestation of a number of inherited cancer predisposition syndromes, including hereditary nonpolyposis colon cancer (HNPCC1; see 120435), familial adenomatous polyposis (FAP; 175100), Peutz-Jeghers syndrome (PJS; 175200), Cowden disease (CD; 158350), and the Li-Fraumeni syndrome (151623). ... Cyclopamine also suppresses cell growth in vitro and causes durable regression of xenograft tumors in vivo. Unlike tumors in Gorlin syndrome (109400), pathway activity and cell growth in these digestive tract tumors are driven by endogenous expression of hedgehog ligands, as indicated by the presence of Sonic hedgehog (600725) and Indian hedgehog (600726) transcripts, by the pathway- and growth-inhibitory activity of a hedgehog-neutralizing antibody, and by the dramatic growth-stimulatory activity of exogenously added hedgehog ligand. ... Molecular Genetics Germline Mutations in Cancer Predisposition Syndromes Carriers of germline mutations in mismatch repair genes (see, e.g., MLH1, 120436) have a 4-fold increased risk of gastric cancer in addition to the high risk of colorectal cancer (Lynch and Smyrk, 1996; Watson and Lynch, 1993). ... Huntsman et al. (2001) noted that hereditary gastric cancer predisposition syndromes and CDH1 (192090) germline mutations contribute very little to the overall load of new gastric cancer cases.CDH1, PIK3CA, MET, FGFR2, ERBB2, APC, IRF1, KLF6, MUTYH, CASP10, ATM, IL1RN, KRAS, PRKAA1, IL1B, CHEK2, ZBTB20, GKN1, CDKN2A, PPARG, CHFR, CDKN1A, AFP, DNMT3B, DPYD, PTGS2, TYMS, CXCL8, TNF, IL6, XRCC1, MSH2, STAT3, DNMT1, SMAD4, EGFR, HOTAIR, ALB, SNAI1, ERBB3, MYC, MUC1, MTHFR, MAPK3, GAST, SERPINE1, MAPK1, TP53, PSCA, CAV1, RUNX3, TWIST1, FHIT, MMP7, XRCC3, PLCE1, ERCC1, ERCC2, GSTP1, ARID1A, CCND1, CD44, MLH1, REG4, RHOA, APEX1, KRT20, BRAF, PLAU, TIMP3, CASP8, IGFBP3, LGALS3, KLK10, PRKAB1, PRNP, ENO1, CCAT1, ACE, FAT4, CDKN1B, CDK4, HMOX1, ZNRD1, IL32, AHR, SOD2, KMT2C, NOTCH2, AREG, MT2A, NPM1, XAF1, AURKB, BMP2, ARL6IP5, JUN, MAPK8, TGFA, HRAS, ADRB2, DLC1, MUC6, PTPA, ITGA5, MTSS1, F2R, HSPB1, PHB, FSD1, IGFBP7, TYMP, FBP1, PYCARD, SERPINB2, KISS1, WWOX, PRKCB, KMT2A, PAX6, BDNF, BCL2L1, RNF43, UMPS, BIRC5, MSLN, RORA, UBR5, WIF1, SCRN1, MIA, PDHA1, NOS3, ECM1, ATR, ING1, CLCN3, RARRES1, SLC1A2, LRRC3B, CST1, DCBLD2, POLE, EEF1A2, SPZ1, MIR22HG, PLAGL1, TNFRSF9, ECHS1, KISS1R, NBAS, HBEGF, HSPA8, AXIN2, CLDN3, BAP1, NT5E, ICAM2, HSPD1, PRDX5, PPIA, RGS2, SLC16A3, RARB, AKR1C3, GLI3, TBX3, FGG, RPS6, SERPINA1, CKB, KRT8, ANXA5, THBD, ALOX5, COPS7A, PTPRG, HIKESHI, MMP10, EBI3, BNIP3, MSX1, MLF1, FADS1, BID, FAM168A, RBP1, IL6R, NOP56, RPS15, ZNF667-AS1, M6PR, SNX5, ADRB1, MRPS18B, MRPL13, CLN3, SREBF2, HRH4, FST, RPL15, ATP6V0D2, SUCLG1, ZNF177, ALDH7A1, RBP4, NAXD, RXRB, EPHX3, CTSC, ZNF593, FILIP1, UBXN1, CDKN2D, RPL13, SPRR2A, AGTR2, RRP9, CCT7, EXOSC5, HNRNPL, IRS2, MARK1, CTNNA2, CST7, CTSL, RPS21, DES, ACAD8, RAD23A, CYP2A6, RANBP10, GADD45A, HOXA2, DDB1, PLPP1, ABT1, DPAGT1, ITGA8, BOP1, ID4, MRPS11, TRAP1, TNFSF9, PGAM1, RPS26, EEF1A1, IDH3B, ALDH1A3, RPS19, HTR1A, NDUFA2, APOA1, NDUFS1, ALDOB, BIRC2, NDUFV1, CDH2, CPSF1, RPL18, SNRPB, PPP2R1A, WDR46, TFAP2C, PA2G4, PREP, SYMPK, FKBP2, TUBA1C, POLR3K, ARFGAP2, PTPRT, PTOV1, CA2, FCGBP, TMEM63A, BLVRB, ACTC1, PUS1, MBD3L2, CNPY2, TAF15, GMPR2, BMP7, PTPRF, PRR5-ARHGAP8, ZNF559, PLIN2, ULBP2, GREM1, PPIC, SELENBP1, SERBP1, FYN, PRPF19, MX1, URM1, ZNF160, CA1, TFF1, TPM3, IL6ST, ANXA1, REG1A, TXNIP, STK11, MSH3, BUB1B, BUB1, BUB3, PRKAR1A, BMPR1A, RPS20, MIR17, MIR141, KLF4, SIRT1, HMGA2, TIMM8A, MIR149, H3P10, LGR5, MIR148A, MIR146A, MIR155, ALDH2, MIR125A, E2F1, CYTOR, ABO, MIR145, MIR126, MTCO2P12, ABCB1, PVT1, MTOR, DNMT3A, CD274, MIR143, SEMA4A, IL17F, MTDH, PTP4A3, NME1, MIR107, HPSE, EPHB2, SMR3B, PTPN11, MGMT, REM1, OGG1, MMP1, ERCC4, HPGDS, ERCC5, GLI1, ESR1, GSTM1, CXCR4, SPP1, TLR4, EZH2, NEAT1, TLR2, SPARC, MMP14, PCNA, ZEB2, SOX9, MACC1, NFKB1, MMP2, HMGB1, MIR106A, PGC, TRIP13, TIMP1, MDM2, FOXO1, EGF, AKT1, FOXM1, SLCO6A1, HIF1A, HGF, NOTCH1, ELAVL2, MMP9, JAG1, HDAC1, SOX2, MALAT1, GSTK1, TBC1D9, PDCD4, GSTT1, RASSF1, MIR34A, CDH17, TGFB1, YAP1, MIR375, MEG3, PTEN, MIR223, FBXW7, TFF3, IGF1R, PSG2, HSP90AA1, THBS1, NAT2, MIR214, TFF2, CXCL12, MIR25, S100A4, MIR27A, IFNG, CEACAM3, MIR335, MIR338, FOXP3, SFRP1, IGF1, CEACAM5, CDX2, MIR29A, IL10, IL11, SMAD2, MIR27B, IL17A, IL1A, MUC5AC, CEACAM7, S100A8, BRCA1, AURKA, PKM, ZEB1, VEGFC, VEGFA, MIR195, CYP2E1, CEP57, PIK3CG, PIK3CD, UCA1, COX2, PIK3CB, MIR421, VIM, KDR, SGCB, CASP3, WNT5A, BCL2, CLDN18, TERT, MIR21, ABCC1, CCK, OLFM4, PROM1, MIR204, BMI1, JAK2, MIR203A, CTNNB1, MIR200C, LILRB1, ERBB4, PARP1, FZD7, ADH1B, FGFR1, CD14, LEP, PEBP1, CD34, CYP1A1, MIR200B, FAS, MIR10B, MIR22, MIR144, MIR206, CREB1, AICDA, PLK1, MIR221, ACKR3, MIR29C, MIR222, MRC1, DCC, HNF4A, PPP1R1B, AFAP1-AS1, EPCAM, CD24, POU5F1P4, TP73, MCL1, ADAM17, CEACAM6, FGF2, TOB1, POSTN, MYCL, GKN2, MIR122, BRCA2, POU5F1, ANXA2, MIR152, HSPA5, HOXA10, IL4, COMMD3-BMI1, POU5F1P3, MECP2, GDF15, GSTM2, HLA-A, ZFAS1, MIR140, MIR19A, MBD2, MIR20A, PRKAA2, TMED7-TICAM2, MIR494, CCKBR, MUC2, TICAM2, MIR495, FOXO3, CD163, RUNX1, LDHA, MIR497, LGALS1, H3P23, STMN1, FSCN1, CIP2A, MUC16, GAS5, MIR183, MIR451A, CCL2, HSPA4, MIR23B, MIR93, SOCS3, MIR31, ZNRD2, PSMD9, EGR1, LTA, SLC12A9, TMED7, IFI27, LRPPRC, LOX, GSK3B, DAPK1, ABCG2, FGFR4, SP1, DCTN6, AR, MIR130A, CXCL1, TNFAIP8L2, SETD2, ANGPTL2, EIF5A2, IGF2, NFE2L2, SMAD7, IL22, MSH6, NOD2, KDM1A, GATA6, NM, MAP1LC3B, SOCS1, NCL, ITGB1, NRP1, TET1, HSPB3, BECN1, MDK, SATB1, MMP11, CDK6, MIR34B, TIMP2, NDRG1, NOD1, ZEB1-AS1, CCNB1, MIR217, MIR212, CTLA4, TGFBR2, MIR196A2, ARHGDIB, MIR508, PAK4, MIR185, MIR182, CDKN2B-AS1, MIR675, BAX, EIF4E, EPHA2, RAF1, MIR137, BSG, MIR30C2, MIR106B, MIR340, MIR370, VAV3, CDKN2B, MIR17HG, MIR302B, MIR361, CD82, SPHK1, CXCR1, HPGD, MIR192, MIR196B, HOXA13, SQSTM1, DLL4, IQGAP1, CDX1, XPO1, CCR7, MIR181A2, PRDX2, SKP2, CDK2, KLF5, TEAD4, MAP2K7, PRMT5, GDE1, IL2, S100B, CXCR2, CXCR6, DDIT3, PRKDC, MIR18A, PCDH10, CASR, MIR320A, MIR378A, CRKL, CRK, CLDN4, CD40, MIR423, CCN1, PRPF31, ICAM1, CHPT1, CD68, COL1A1, MIR30C1, METTL3, MIR32, MIR425, SALL4, KLF2, MIR135B, MIR148B, NEDD9, DANCR, CCN2, MIR205, MIR210, WNT1, CRP, MIR133B, RACK1, INHBA, RPSA, TP73-AS1, MIR23A, CCND2, CLIC1, PROX1, KLRC4-KLRK1, FLT1, DLEC1, MDM4, MIF, PDK1, IL23R, KLF8, PTPN1, ANXA7, FOXK1, NR1H2, MICA, RNF180, NOX4, FGF9, ARHGAP24, RELA, MAD2L1, DHDDS, UBE2C, S100A1, LMX1A, CT83, FRZB, MGR1, GHET1, GABPA, KLRK1, IL33, HOTTIP, FOXQ1, MIRLET7B, HAVCR2, SLC2A1, AGT, SULF1, NOS2, C17orf97, TLR5, RASAL1, MIR381, CCL5, MIR383, RAC1, MXI1, TES, CD36, ALDH1A1, AKT2, ADRA1A, MAP3K1, TPI1, H3P9, IL18, CDC42, MMP13, TSPAN8, CCAT2, ADH1C, PCAT1, NXT1, SPRY4-IT1, TRAF2, MCC, ADRA2B, LAPTM4B, DKK3, SNHG16, CD80, LAMC2, PTK2, MAP2K1, MIR506, ZFHX3, TGFB2, NET1, ATP4A, ATP4B, MT1JP, S100A6, VDR, TFAP4, BGN, UHRF1, MIR630, TERF2, CDK5, BRS3, KLK6, KRT19, L1CAM, LGMN, COX1, MIR532, TLR9, MIR708, MIR503, SMOX, SCO2, MIR363, CCNE1, MIR551B, THY1, HDAC6, MIR146B, THBS4, THBS2, PTCH1, FASLG, CHAF1A, LATS1, UGT1A1, CASC11, WEE1, MIR499A, MIR501, TACSTD2, TGFBR1, MSI1, ANGPT2, FSTL1, IL16, KLF12, USP22, MIRLET7C, COL18A1, ROBO1, SSTR4, DICER1, EDNRA, SIRT4, TKTL1, HMGB3, E2F3, WNK1, NR4A2, FOXA1, MIR132, SERPINB5, MIR139, NQO1, BRD4, GSPT1, FGF4, SUZ12, CXCR3, MYH9, STC2, VTCN1, YBX1, SUB1, GADD45G, ERCC6, KDM4B, BCL6B, FAP, MSC, FASN, MTA2, EPAS1, SST, SOX2-OT, ADIPOQ, SNHG5, IRX1, GPX3, SRPK1, GPR42, ZFX, COX5A, HFE, ROCK1, KHDRBS1, CPOX, FLT4, ROS1, TBPL1, SOAT1, FEZF1-AS1, COX8A, PLG, PDCD5, MIR29B1, MRPL28, SLC7A5, MIR224, FN1, MIR34C, ERCC8, SELE, CIB1, TNFRSF6B, CDKN3, GATA4, GAPDH, SOX4, TINCR, MAPK14, PAX3, LPAR2, DAB2IP, PITX1, HOXD10, HP, MIR198, MIR219A1, SEMA6A, FSD1L, HES1, PLA2G2A, MIR200A, HSPB2, VCAN, MIR215, MRE11, CLDN11, RAD51, ODC1, PIWIL1, PAEP, RBX1, PRKN, RNASE3, HDAC4, NID2, RDX, SOCS6, FERMT2, PTPN14, AKT3, PBX3, TDGF1P6, SIRT2, OPCML, PAK1, RAB1A, RPL23, MPO, PAX5, WASF2, STARD3, NBN, PIN1, AKR1A1, DAPK2, NUP62, NEK2, MTRR, SNHG1, MUC4, KDM4A, CADM1, AHSA1, PIM1, SLC34A2, POLDIP2, PMS2, CXCL13, PTENP1, RNF19A, LRIG1, PPARD, SPON2, POT1, MTR, CBX7, ABCB6, MST1R, RBP2, PSMD10, HDAC9, PDGFRB, AGO2, ACTR2, RBM4, KIF20A, MSMB, MST1, MSX2, ATG5, PFKFB3, CACYBP, TNK2, HSPH1, HTRA1, MTA1, GRAP2, SIRT3, PGK1, NTN1, GRB7, EIF4A3, SNHG12, YWHAZ, ESR2, ZKSCAN1, EREG, SRI, EPHB4, EPHB3, DLX6-AS1, TRIM59, SRF, CTTN, ZIC1, FEZF1, MIR454, BAK1, MIR187, STAT1, S1PR1, MIR128-2, DUSP4, STAT4, MIR129-2, YES1, MIR134, MIR136, MIR142, MIR150, XRCC5, MIR181C, ETS1, SNHG8, F2RL1, PCGF2, NKD2, MIR543, LMLN, XRCC6, SNCG, TP53INP1, NR5A2, FOSL1, FPR1, FOS, CTHRC1, ANIB1, CMTM3, TFPI2, AIMP2, MIR940, VEGFD, CBLL2, FGF7, SOX11, FGA, NLRP6, ATOH1, ATP12A, HOXA11-AS, MIR744, CASC2, MIR186, MIR188, MIR874, MIR20B, CDH13, MIR613, MIR372, CDC20, XIST, TERF1, CD151, MIR584, CD47, MIR4435-2HG, BST2, MIR449A, MIR362, WNT2, CYP19A1, TCF4, MIR490, MIR193B, MIR33B, CASP9, MIR181D, MIR505, CALR, MIR483, MIR455, EZR, RASSF10, CA9, TAC1, SYT1, MIR337, MIR331, TFAP2A, MIR193A, MIR196A1, CYP1A2, MIR197, MIR92B, MIR19B1, STC1, MIR216A, CRMP1, MAP3K8, MIR647, COL12A1, MIR638, SULT1E1, MIR29B2, COL6A3, MIR301A, MIR30A, MIR30B, COL1A2, STIM1, AURKC, CHRNA4, CHEK1, SULT2A1, XPC, SNHG20, VPS51, FNDC1, ITGB3, CASC9, TUG1, ADAM10, ISL1, IRF6, ANO1, ADAR, PDX1, INSR, ZNF654, INPPL1, TLR1, ILK, TRIM24, ENAH, ADM, HSP90B1, PBK, IKBKB, RPRM, TMPRSS4, ADAM9, TNFSF10, SRSF1, TNFSF13, ID1, TGFBI, PINX1, ITGB4, HTN3, LINC01410, GPRC5A, GIT1, ABL1, MBL2, MAL, RMC1, RPS27, SEMA5A, DELEC1, RRM2, TOP2A, GAL, S100A2, ANGPTL4, ING4, DCTN4, LGALS9, GOLM1, DACT1, ISYNA1, GACAT3, S100A11, RAB14, IL23A, KIF2A, TRPM7, ASPN, SMURF1, TRPC6, HTC2, FTO, HSP90AB1, HDAC2, RECK, MUL1, MIR1236, LIN28A, GTF2H1, ANGPT1, WLS, SLC16A1, FBXO11, CDK5RAP3, MIR1284, APRT, AQP3, GPER1, GPI, SNAI2, NCOA3, MLRL, SMARCA4, GLI2, GLDC, SESN2, TMPRSS13, NRG1, CUL4B, HNRNPA1, NDRG2, TP63, ANKRD36B, HOXB7, IL21, PRMT1, BHLHE40, GOLPH3, FRTS1, PIK3R3, GAPLINC, AGER, HMGB2, HSF1, HHIP, GORASP1, HLA-E, CEMIP, HLA-DQB1, GEMIN2, HLA-DQA1, LINC00673, TIAM1, HOXC10, UVRAG, KMT2B, TTK, UCHL1, STARD8, TXN, UTRN, TTR, USF1, TP53BP2, DIRAS3, SLC9A3R2, SEMA3E, ATG12, SPOP, ULK1, NR0B2, CUL4A, DCLK1, OGT, PPM1D, DENR, DYNLL1, SCAF11, FADD, PCLAF, TNFRSF10B, CCN6, CCN5, CCN4, HDAC3, NR1I2, FUBP1, MTMR3, F2RL3, DOK2, FZD1, AXIN1, VIP, ADAMTS1, VGLL4, WNT6, WNT7A, WNT10B, XDH, KLK4, XPA, CLOCK, XRCC2, XRCC4, YY1, PDLIM7, ZFP36, MZF1, CLDN1, PRDM2, BTG2, FZD5, KMT2D, YEATS4, CDR3, KDM5D, NAT1, PCDHB9, BMS1, MIRLET7E, LINC01194, CASC15, LIN28B, SNHG17, NANOGP8, VSIG1, TFAP2E, SNHG15, HOXA-AS2, ZFP82, LYPD5, HNF1A-AS1, H19, CTAG1A, MPEG1, MIRLET7D, MIRLET7I, TIGIT, MIR100, MIR324, MIR302C, MIAT, MIR99B, MIR95, MIR33A, MIR296, MIR28, MIR211, MIR199A2, MIR199A1, MIR154, MIR130B, MIR129-1, MIR127, NAIF1, MLKL, GSDMD, MFSD2A, HOPX, LOXL4, CCDC8, CDCA3, TCF7L1, NECTIN4, SETD7, ZFP91, CMIP, SRCIN1, SLC19A3, CD276, WNT10A, CXXC4, MUS81, GLIS2, SNHG7, RASSF6, SCIN, MAGEB6, BTLA, PDIK1L, MDP1, GSC, MUC17, CLDN23, LINC00628, ANTXR2, RAB3IP, FBXO32, SLC52A3, SAT2, ZFAND4, WNT3A, MIR326, MIR328, MIR367, MIR761, MIR1179, MIR1271, MIR1297, MIR1207, MIR1258, MIR1256, MIR1296, MIR1915, LINC00941, FAM83H-AS1, EGOT, MIR365B, MIR760, MIR885, MIR938, ZEB2-AS1, CBR3-AS1, MIR376C, LINC01234, H3P47, LOC110283621, CDR1-AS, TP53COR1, PRNCR1, BLACAT1, LSINCT5, PANDAR, LINC01939, TRERNA1, MIR5590, NNT-AS1, MIR4795, MIR4455, LINC00665, MIR873, MIR876, GGTLC4P, NBAT1, MIR486-1, MIR519D, MIR524, MIR202, MIR491, MIR409, MIR18B, MIR448, MIR429, MIR424, MIR379, MIR377, CISD2, MIR374A, MIR371A, SNHG6, PGA3, CRNDE, MIR598, HULC, GGT2, GGTLC3, LINC00460, MIR663A, MIR646, MIR593, MNX1-AS1, MIR585, MIR574, MIR542, MIR545, GGTLC5P, NORAD, GRHL2, FBXO31, MELK, TRIM29, SMUG1, NNT, SIRT5, SASH1, WWC1, EPB41L3, KDM6B, SPART, KDM2A, DKK1, RUFY3, ECD, RASSF8, GALNT5, ANXA10, CORO1C, TMEFF2, WDR5, TFIP11, MCTS1, DLL1, MCAT, RABGEF1, IL17B, PELP1, NOX1, EHF, FBXL5, RAI14, WWTR1, OLFML2B, LETMD1, BRMS1, TNFAIP8, CORO1A, ESM1, CLIP4, PDLIM5, NDC80, PIAS3, TUBB3, CLEC4M, STUB1, ABCC4, SPRY2, TRIM28, DNM1L, HDAC5, KCNE2, PTBP3, REC8, USP3, MFN2, MERTK, PDPN, TRIM31, IGF2BP3, CNMD, WWP1, STIP1, ERP29, BTG3, RALBP1, MMP24, TSPAN9, PPP1R13L, WASF3, IQGAP2, KDM5B, USP39, CD226, SPINT2, RACGAP1, DNMT3L, ERO1A, RPRD1B, CCAR2, SYT13, SCYL1, S100A14, ERGIC1, VANGL2, PAK5, CD248, TIGAR, CIAPIN1, AKR1B10, ADAMTS9, TM9SF3, SULF2, GSDMB, HAMP, PRDM16, TBX21, PCGEM1, TBL1XR1, PAGR1, FA2H, MMP28, GGCT, MARCKSL1, NDRG4, CENPH, SMYD3, COP1, SOX17, NOC3L, POPDC3, VSIR, PBLD, IL26, PRR11, URGCP, ITLN1, SIRT7, DTL, FZR1, TNFRSF12A, LEF1, EGFL7, LINC00328, TRIM17, ADIPOR1, NDUFA13, APIP, TRAT1, IL21R, STOML2, ADGRE2, SIRT6, LARP7, MED15, AGGF1, VEZT, SAGE1, TRPV6, ZNF331, PHF10, IMP3, ATG16L1, RAB23, GID8, TENT5C, SYTL2, UGT1A7, DDIT4, PRR13, TNFRSF1A, CCNB2, PCDH7, CTAG1B, CSF2, CRYZ, CRYAB, CREBBP, CRAT, PLXNA1, PODXL, POLB, POMC, PON1, COL4A1, CCR6, CCR4, CMA1, POU5F1B, CLU, CKS2, PPBP, PPP1R1A, PRKCI, CETN1, CST4, CTBP1, SIAH1, CTSK, DPYSL3, DPT, DOK1, REG3A, TRDMT1, PCBP1, DYNC1I1, GSDME, DECR1, DDX6, DDX5, PCDH8, DCN, BRINP1, DAP, PDCD1, PDGFRA, CYP2C19, CYLD, CYBB, CUX1, CDO1, CDKN1C, PSD, PSEN1, RET, RNASE1, RNF2, BMX, RPL6, BDKRB2, BCL9, RPS15A, BCL6, RTKN, S100A10, BAG1, SAT1, BAAT, AXL, CCL22, CXCL5, ASCL2, SFRP2, ARHGAP5, SHBG, BTG1, KDM5A, RB1, CCKAR, CDK7, CDH11, PSMB8, CDK1, ADGRE5, CD74, PTGS1, CCNA2, PTPN6, CBR1, C5AR1, SERPINH1, RUNX2, CASP6, RAP1B, RAP1GAP, CALD1, CALCR, DDR1, CA11, ATN1, DSC2, PRDX1, FLNC, IRF3, ITGA2, ITGAV, GJA1, GGT1, ANOS1, GAS6, GAS1, KCNH2, GALNS, KIT, KIFC1, KRT17, KRT18, FUT1, FUS, FRA7G, LCN2, LIF, FOLR1, LIMK1, IRF2, GLO1, IRAK1, HINT1, HOXC6, FOXA2, HMMR, HMGCR, HLA-G, HLA-F, HLA-DOA, HLA-B, HK2, HIC1, GLS, HDGF, MRPL58, IDUA, IGFBP1, IL4R, GPX1, GNAS, ING2, CXCL10, FLOT2, LOXL2, P4HB, LUM, MYO6, PPP1R12A, FBLN1, PTK2B, NELL1, NEO1, NEU1, F3, NEUROD1, NGF, EPHB1, EPHA1, NOVA1, NPC1, NRAS, DDR2, NTSR1, OMP, E2F5, DUSP6, DUSP5, EFEMP1, MYD88, MYCN, FOXF1, LYN, TM4SF1, FLI1, MXD1, FOXS1, FOXJ1, MAPT, MAP3K5, MFAP1, MITF, FKTN, MKI67, MME, MMP3, MMP12, MOS, FHL1, MTAP, NUDT1, TRIM37, SHMT2, HOXA5, XIAP, SLPI, TM7SF2, ST6GAL1, TCF3, STAT5B, STAT5A, TGM2, ASIC1, SPINT1, ADCY3, SMARCA1, SPOCK1, ADH5, TCF21, SSTR3, TEK, HLTF, TDG, SRC, ADH1A, TEAD1, SLC5A5, TAZ, SLC1A5, AMD1, SIX1, SRY, ALCAM, SLC7A1, ADH7, ACTB, ACACA, APOE, SLC9A1, ANXA4, SULT1A1, SLC6A8, TCF7L2, AGTR1, ALOX15, SOD1, AP2A1, TGFB3, SLC22A3, ANXA3, SIAH2, HSPA13, H4-16, MSI2, LINC01254, PIP5KL1, FOXI1, VPS37A, ANKRD9, SOCS4, FLNB, UBXN2B, TMEM52B, PAQR4, TRPM2-AS, NXPE2, NEDD1, NALT1, FOXC2, IQGAP3, SGPP2, CD200R1, LINC01524, RBM45, CMPK2, SCLT1, VSTM2L, LINC01303, KRT40, PDCL2, TSACC, GJB4, TNFAIP8L1, IL31RA, FLNA, OSR1, TMEM45B, LOXL1-AS1, CPXM2, ACTN4, CMTM7, MIR6807, MIR6884, PRRT2, CAVIN3, EGLN3, EGLN2, FUT2, FUT3, FUT4, CGB5, MRFAP1, FUT5, MEF2C-AS1, LEMD1, CSAG2, PGAP3, DNER, DTD1, SPECC1, SCGB3A1, FUT6, GGTLC1, CHRDL1, WDR20, ISX, MIR6856, CDCA5, TMEM106A, FPR2, GSTO2, MMP21, PIK3AP1, ETS1-AS1, TWIST2, RASSF1-AS1, MIR6506, DCD, FLT3, DIRC1, MIR6852, BATF2, CCDC151, FOLR2, ATG4A, FOSB, OSBPL8, ESCO1, TUBGCP5, LMTK3, CARD16, TIRAP, NLRP3, B3GALT5-AS1, LINC00313, S100A16, ZNF664, CTCFL, CTXND1, FAU, DOK6, SKA1, VWCE, FBLN2, CCNY, MED19, SFTA1P, HIPK1, APOBEC3A_B, FCGR2A, PRSS55, CCDC125, BRI3BP, LINC01436, RAB12, CENPX, FBXO45, FDXR, FOXP4-AS1, APOBEC3A, FEB2, ARID2, PRXL2C, FEN1, GPC4, PTCSC3, MARCHF8, KDM1B, LINC-ROR, SBF2-AS1, IFNL2, ADGRF1, IS1, HSPA12A, LINC00565, FABP1, RB1-DT, EPGN, MACC1-AS1, FABP5, MSRB3, CERS6, EBF3, RICTOR, HCG27, NEIL2, IL27, ACSL4, FALEC, MAPK15, FAM83B, HOXC-AS3, JAZF1, FAT1, DNAJB1P1, ABHD11-AS1, ADAMTS18, PTENP1-AS, LDC1P, MFSD4A, LINC00662, LYPD4, ZNF418, ADARB1, ARHGAP27P1, TMED6, LINC00052, NRG4, PWAR1, ADAM8, PTGR2, FOXF2, LINC00477, GUSBP11, LAYN, PIWIL4, CACUL1, ZNF280B, ACYP2, ISM1, LINC00261, LINC01793, ROMO1, FKBP5, FKBP4, ADAMTS15, GPBAR1, BHLHA15, DDX53, FGB, SLFN5, MDGA2, SLC5A8, DEUP1, FGF13, FGFR3, LINGO2, LRATD2, ESCO2, PEBP4, ADH4, FGL1, AMOT, CREBRF, FH, PAQR3, IGSF11, SGO1, ADD1, GPR155, NPTN-IT1, LBX2-AS1, RNF185, HS6ST2, FZD2, GUSB, VASH2, SHCBP1, GSTM3, GSTZ1, ELMO3, GTF2A1, PALB2, GTF2H4, SUV39H2, GUCY2C, IPO4, ZDHHC14, NEIL1, EHMT1, GZMA, HAS1, HMBOX1, ACSS3, TCTN1, HCK, CORO7, SLC52A2, HCRT, BIRC7, LOC107987479, HMGN5, LINC02163, CAMKMT, HDC, GRINA, ADAM33, ULBP1, LINC01852, RAPGEF1, GRN, GRIK2, CPEB4, GRIK3, FLAD1, GRIN2B, RUFY1, RUNX1-IT1, NR3C1, ZMYM1, FRAS1, LINC02465, ZNF703, TRIM46, TUBA4B, DGLUCY, GRP, PDIA3, DENND2D, GSTA1, CCDC134, GSTA3, HCRTR1, CENPO, SPOCD1, HNRNPA2B1, DCLRE1C, RGS18, ASIC2, GREM2, MMP25, H3P42, HMGA1, RHBDF1, ARHGEF28, ROBO3, STRA6, H3P11, ABL2, CPEB1, IRF2BPL, NCAPG, HNRNPC, HNRNPD, HNRNPK, TLX1, HOXA@, HOXA1, TP53AIP1, CLSPN, PKNOX2, FKBP10, CSMD1, ANAPC1, DHRS11, ZBTB10, DINOL, KRT7-AS, HELLS, MBOAT7, RNF26, CARD14, DCTPP1, ACHE, NUP37, LOC111589215, LRFN4, DDRGK1, STK33, TMPRSS3, HK1, LNCRNA-ATB, DUS4L-BCAP29, CDK15, HLA-C, MRPL41, HLA-DQA2, MICAL1, FNDC3B, HLA-DRB1, CCDC136, NUCKS1, COASY, PDCD1LG2, GPR37, GDF2, GATA2, ACP1, ORAI1, GATA3, RIOX2, ARHGAP5-AS1, FOXD2-AS1, GBAP1, KAT2A, KDM2B, GDF1, CCDC62, GEM, ATAD1, AFAP1L2, GFPT1, MAP1LC3A, GACAT1, GHRH, ZMAT1, DOT1L, GHSR, COG8, BRMS1L, GINS4, WDR83, SPPL2A, ARHGEF39, GPR35, HAGLROS, LINC00473, AOC4P, TMEM41A, MED30, LOC102724197, DCAF15, GAB1, SYT8, KLHL6, GAGE7, GALE, TSLP, LBX2, SLC35B4, DIXDC1, TSPYL5, SLC22A16, GALNT1, DNAJC14, GALNT2, ACP5, LINC01419, TNS4, MAEL, MASTL, FIBCD1, POLDIP3, TCHP, IRAIN, SLC38A1, NETO2, TLR10, NUAK2, VCAN-AS1, MDC1-AS1, GNAQ, CAB39L, FAM83D, ACLY, GNAT1, PDRG1, TXNDC5, SGPP1, NLRC5, HM13, ILKAP, EGFL8, ZNRD1ASP, GNB3, KDM7A, TAS1R1, GNL1, GOLGA2, SFN, ITIH5, PRLHR, VANGL1, KRTAP1-1, GLUL, TCONS_00068220, RNASEH2C, GJA4, ZNRF3, USP44, ACO2, HORMAD1, GJA8, GJB1, BRIP1, GPC3, GLB1, KLF16, ANGPTL6, ITCH, TLCD3B, CALN1, LNCOG, TRAPPC9, GCLC, FAM107B, BCL2L12, SOX7, THRA1/BTR, MYOSLID, VPS13B-DT, F2RL2, ADH6, F2, MIR487A, MIR1266, GAGE12G, SMIM10L2B, CACNA2D1, CAD, PURPL, FLVCR1-DT, CERNA2, MIR664A, ANPEP, SLC7A11-AS1, CALM1, CALM2, ANXA11, MIR484, CALM3, SNORA21, CANX, CAPG, CAPN1, MIR1281, MIR1304, MIR504, CAPN2, MIR502, CAPZA1, C4BPA, GAS6-AS1, SCFV, C3, MIR1269A, MIR1294, MIR577, MIR575, BOK, MIR573, MIR570, MIR567, MIR564, MIR558, FOXL2, ZFP36L2, BTC, MIR411, KLF9, BTF3, MIR544A, MIR539, BTK, FAM72B, C1QBP, MIR1306, LGALS7B, PRB2, CXADRP1, MIR500A, CAST, CASP1, CD8A, MIR31HG, CD9, CD19, DUXAP10, DUXAP9, DUXAP8, CD28, CD33, CD40LG, MIR422A, MIR384, CD59, MIR382, CD63, MIR711, CD81, ALPP, MIR376A1, MIR449C, LRBA, CDC6, SUMO1P3, CDC27, CDH4, MIR373, CD8B, MIR718, ANG, CD247, MIR518C, MIR498, CASP7, CAT, MIR1290, CBFB, MIR1303, CBS, MIR511, NCRUPAR, KRIT1, MIR488, MIR485, MIR376B, ALPG, MIR410, SLC25A5-AS1, MIR452, CCNG1, MIR433, CCNG2, CCNH, CCT, CD1D, H4C15, MIR582, BMP8B, LINC02532, MIR877, MIR509-3, ARSF, MIR1265, ASNS, ASS1, ATF4, MIR935, MIR922, MIR301B, MIR374B, ATP6V1A, MIR665, ATP7A, MIR588, MIR1286, ATRX, VTRNA2-1, MIR300, AVP, MIR1275, SNORD105B, APOC1, AZGP1, B2M, GAGE12F, PWRN1, MIR937, MIR944, STS, MIR190B, ADPGK-AS1, APP, TONSL-AS1, H3P36, GACAT2, DEFB4B, AQP4, MANCR, MIR1225, MIR1224, TRIM23, GAGE12D, FOXO6, INSYN2B, RAB6C-AS1, AGAP2-AS1, MIPEPP2, MSTO2P, VPS9D1-AS1, ARF1, ARF6, RHOB, MIR939, MIR933, ARR3, HPP1, MIR802, MIR1182, CEACAM1, MIR633, MIR632, CXCR5, MIR628, MIR625, MIR623, MIR622, MIR618, MIR616, APAF1, MIR615, BMP1, MIR608, MIR605, MIR604, MIR603, MIR601, MIR600, MIR599, BMP3, MIR596, BMP4, MIR592, MIR590, MIR589, MIR637, MIR645, MIR758, BCYRN1, TDRG1, MIR1246, MIR1247, FAM72A, GAGE12E, GAGE12B, GAGE12C, CCR2, STXBP5-AS1, ADGRB1, OIP5-AS1, NKX3-2, BCAT1, LINC01433, BCHE, BCL2A1, LINC00165, MIR1298, APBA2, MIR660, MIR658, MIR654, MIR1229, MIR652, MIR650, CDH5, MIR369, P4HA3, EFNA1, DUSP9, E2F2, MIR124-1, ADORA2A, ECE1, MIR10A, ECT2, LPAR1, EDN1, EDNRB, EEF2, MIRLET7G, EFNA2, DDC, EFNB1, ADORA1, EFNB2, MIRLET7A2, MIRLET7A1, MEGF8, LDLRAD2, HPPD, EGR2, C3orf85, HAGLR, LINC00668, DNM3OS, DUSP1, MIR2392, DTX1, MIR16-1, MIR15B, MIR15A, RBM14-RBM4, DHX15, DEFB4A, GRK2, DHPS, MIR147A, MIIP, DLD, ADRA1B, MIR4668, MIR4728, DOCK1, ADRA1D, MIR4513, DPP4, MIR4665, DRD2, MIR3064, DSG2, MIR4429, DSP, SLC26A2, TOB1-AS1, EIF4A1, FENDRR, RSPO2, MAP3K20-AS1, EPHA4, BRINP3, MT1DP, EPHA8, TUSC1, MIR5003, EPHX1, ERCC3, ESRRG, CCDC66, TUSC7, TMEM238L, LINC00319, ETS2, WDR62, ETV4, CXCL17, GSDMA, NEK8, PICART1, LINC00324, LINC00346, EYA1, HECTD4, ARSI, EPHA3, BCAR4, NCCRP1, MIR100HG, SMIM10L2A, CSAG3, EIF4EBP1, ELAVL3, VGLL3, ELF3, LINC01138, TMEM220, ELK1, KMT5A, ELK4, MARK2, AQP12A, LINC01116, ASPG, NCR3LG1, EMP1, IRF2BP2, EMP3, ARPIN, PWAR4, EMX2, IRGM, HSD17B13, LINC01606, EGFR-AS1, MIR4317, ALOX12, MIR4284, MIR4268, MIR99A, MIR96, CLK2, MIR4308, CLTB, MIR92A2, MIR7-3, MIR7-2, MIR7-1, MIR4269, ABCC2, DDB2, CNC2, PLK3, CNN2, CNN3, CNTN1, MIR3664, COL4A2, MIR302A, AKR1B1, COL5A1, COL5A2, COL10A1, BLID, PIM3, PRDM16-DT, PIWIL3, MIR3174, CDK9, MIR4270, MIR345, MIR342, MIR3129, MIR339, CEBPB, CENPF, MIR4295, CFTR, MIR330, CGA, MIR3189, CHD1, CHGA, MIR302D, CHI3L1, CHRM2, CHRM3, CHRNA3, CHRNA5, KRT19P3, CHRNB2, CISH, COL11A1, LINC01133, MAGI2-AS3, CTBP2, CTNND1, CTSD, CTSE, LINC00629, MIR19B2, CTSZ, GIHCG, CX3CR1, CXADR, TTN-AS1, AHSG, CYP2B6, CYP2D6, CYP3A4, DAB2, MIR191, DACH1, CD55, ADAMTS9-AS2, LINC00707, DAPK3, MIR184, DAXX, AGA, AEBP1, CTNNA1, PCAT6, MIR299, OCLN, COL11A2, COMT, LUCAT1, COPA, CLDN7, CPT1A, MIR26B, HMGA1P4, MIR24-2, LINC00958, HOTAIRM1, LINC01006, CSE1L, CSF1, CSF1R, MIR219A2, CSF3, CSF3R, CSK, CSNK2A1, CSRP2, AIF1, CST6, CSTB, CTAA1, TNFAIP2, CD177, TGIF2, MDC1, TNFSF15, SLC23A2, PTPN3, PTPN4, KIF14, ARNT2, NUAK1, TLK1, PTPN9, PTPRC, TRIM14, KEAP1, PTPRCAP, PTPRH, PTX3, DLGAP5, PIEZO1, PVR, RASSF2, NECTIN1, TOX, PXN, RAB13, RAB27A, KNTC1, RAD51B, RANGAP1, RAP1A, RAPSN, NR1I3, NR1H4, PTN, DNAJB6, PSMC3, ARL4C, PSMD1, ARPC2, TSPAN1, PSMD2, ACTR3, ARPC1B, PTPRU, NR1H3, PSMD4, PSME2, UBA2, RANBP9, PTK7, PSPH, TROAP, FRAT1, BCL2L11, BCL2L10, PDCD6, TAS2R38, PTGDS, ABI1, PTGER3, PTGER4, PTK6, HNRNPDL, IPO13, CTR9, NAMPT, MICAL2, SLIT2, OPN1LW, REN, TAOK2, UPF1, REV3L, RFC1, RFC3, COPB2, RGS3, RMRP, AIMP1, PTTG1, BRD2, RNF6, RNH1, HACD1, SLC16A7, DEDD, DDX21, ROBO2, RASSF9, ARHGEF2, OSMR, IL1RL1, RORC, RPA3, EBAG9, PCSK7, ITGBL1, RBM3, RBBP8, BAG4, IKBKE, RGS6, RARA, CYTIP, APOBEC3B, RARRES2, NR1D1, MACROH2A1, MRPL33, CXCL14, NRG2, TP53I3, BAG3, PLAAT4, RECQL4, RASA1, GAL3ST1, RASGRF1, KIF23, MAPK8IP1, ROCK2, RASAL2, MAP4K4, ITM2B, RBBP4, HAND1, FADS2, RBBP6, BCAP31, PSMA7, RPE65, TRIM3, PDYN, PECAM1, PENK, PFKFB4, PFN1, GJB6, CDK14, PLK2, PGR, GIPC1, PLK4, SLC25A3, DLL3, TNFSF13B, PHF2, SERPINB6, SERPINE2, CELF2, CELF1, SERPINI1, KHDRBS3, PIK3R1, CAMKK2, IGF2BP2, PKD1, PLAT, PLCD1, PLD1, TRIM16, PDPK1, HCST, PDK3, KIF2C, DNAJB4, PAWR, PCCA, WWP2, ADRM1, UPK1A, PIM2, RAB31, RAB35, ATF7, KLK11, IL24, LILRB4, RAB32, PPARGC1A, COPS6, CKAP4, RAB40B, PCDH9, SERPINA5, LMAN2, PCSK2, CDK16, PDCD2, EHMT2, MAGED2, PDE4D, SUGT1, SPAG5, PLOD2, G3BP1, PAIP1, PPAT, PPIB, PPP1CA, PPP2CA, PPP2R5E, IRF9, CITED2, PRKACB, PRKACG, PRKCA, PRKCH, SMYD5, CRISP3, CCNO, DLEU1, MARCHF6, DNAJA2, EFS, PRKCZ, MAPK7, MAPK9, PRSS3, HNRNPR, RELN, RCAN2, TRIM13, PSME3, PSAP, PSMA1, IFITM3, RAPGEF3, MED1, ENOX2, PLS3, SMC2, IFITM2, SORBS1, PML, PMP22, PNMT, PROCR, ANP32B, UBD, POLR2A, KAT5, SEMA3C, CRTAP, PPARA, CAP1, CAP2, NXF1, HOXB13, PON2, PIBF1, POU2F1, TACC3, GPNMB, POU2F2, FAM3C, MCRS1, RBM14, EXO1, RPL10, AFAP1, WT1, SOX1, NTT, DEK, REEP5, SEMA3B, SOX5, SOX10, PAX8, SOX12, DAP3, SPG7, ZNF217, ZNF208, TRIM25, ZNF143, ZNF70, SPTAN1, CNBP, ZNF3, SSRP1, SSTR1, ST13, STAT6, STAU1, STX1A, SUV39H1, TACC1, TACR1, MAP3K7, FZD3, SEM1, SNX1, GDF5, FZD9, FZD8, FZD6, SLC11A1, SLC19A1, SLCO2A1, SLC22A1, H4C9, SLIT3, KDM5C, USP9X, TAM, SMARCA2, SMARCB1, NR4A3, AKAP1, SMARCC1, SMARCC2, SMARCE1, SMN1, SMN2, SMO, USP5, SNRPA, CSRP3, RASSF7, ADAM12, CUBN, XBP1, WRN, H4C4, WNT9A, SUMO1, UBE2N, UBB, UBA52, TH, TNFRSF4, THRA, THRB, TIA1, TSG101, TRPM2, NKX2-1, TRPC1, HSP90B2P, TRAF6, TRAF5, TRAF3, TK1, TKT, CRISP2, TPR, TLE1, SEC62, TPD52L2, TMPO, TMSB4X, TMSB4XP8, TNNI2, TNFRSF1B, TGM1, UGCG, UGT1A, TCF7, WNT2B, TAPBP, WNT8B, WNT7B, TBL1X, TBX2, WNT3, TCEA1, HNF1A, NSD2, VWF, VLDLR, VIPR1, TCF12, UGT2B15, VHL, TCN1, VCL, VCAM1, VAV2, VAV1, VASP, KDM6A, TEP1, UQCRFS1, UQCRC1, UPP1, TFRC, H4C1, H4C6, RABEP1, SRSF6, PER2, APLN, ATXN1, AKAP4, ALKBH1, SCN7A, SCN9A, SCNN1B, CCL4, CCL18, CFLAR, GGH, CCL20, FGF18, BANF1, CDKL1, IL18R1, SDC1, TNFRSF10A, SDHB, TNFRSF11A, FBP2, DLK1, SDHC, SDHD, RIPK2, TNFRSF14, SET, ADAM23, TSPAN31, SAI1, VPS52, PRC1, RPL11, RPL34, SLC16A4, RPN2, RPS6KB2, NMI, USP14, PKMYT1, RPS7, RPS12, CLDN2, CLDN6, SYT7, RPS13, MTMR2, RRAS, BAZ1B, RRM1, MAP3K14, CDKL2, NOL3, LIMD1, S100A3, S100A7, BTRC, S100A9, MBD4, SGCE, SFRP5, TNFSF14, H4C12, HRK, PPFIA3, BARX2, CBX4, YBX3, ST3GAL3, IFITM1, ELP1, STIL, LIPF, SIPA1, SLC2A4, SMARCA5, KLF11, SLC3A2, SLC4A1, SLC6A6, STK24, SNHG3, TAGLN2, SLC8A1, SPARCL1, MAD1L1, H4C14, H4C13, H4C5, H4C2, H4C8, H4C3, H4C11, LMO4, PIAS1, CDC14A, TNKS, RIPK1, GPAA1, ADAM19, CTSF, MBTPS1, ABCC3, PEA15, SRSF7, EIF4G3, EIF3H, EIF3D, EIF3B, SGK1, SGTA, TCAP, SH3BGRL, LAMTOR3, NCOA1, JRK, SHC1, USO1, SHH, KLF7, TNFSF11, STK16, MADD, PDXK, CDK10, ADAM29, PAK2, ADAMTS8, UGT1A10, PARPBP, ITGA3, C1orf56, ODAM, IMPAD1, CMTM6, CYP2W1, SLC66A1, ITGAX, ALKBH5, EIF6, ANKRD49, ITGB5, ITGB6, ITK, GIPC2, TRIT1, TET2, BTG4, TRIM44, ITPR3, MPHOSPH8, JAK1, UGT1A4, HES2, CCNJ, LZTFL1, UGT1A6, JUNB, MARCHF1, ANKRD40CL, USP47, CHDH, ILF2, ILF3, ENOSF1, IL17RB, MAML3, TRIM36, INCENP, TNFRSF19, IDO1, LGR4, IMPACT, STYK1, INS, INSIG1, FKBP14, INSL3, TMEM100, KIRREL1, RIF1, PRMT6, CEP55, SDAD1, IRF4, KIF26B, RNF31, ITGA1, EPN3, NOL8, UGT1A8, JUND, OTUB1, ING3, KNG1, AZIN1, KIF11, CYRIB, UFM1, HDAC7, KPNA2, RAB6B, KRT6A, KRT7, KRT15, VTA1, CXXC5, GTSE1, UFC1, NOP16, HSD17B7, LAG3, PRRX2, RNF138, VGLL1, SNX9, PPME1, LAMA4, PLA1A, ZMYND10, WT1-AS, LAMB3, ZBTB7A, KLK1, LSR, PPIL1, DUOX1, RBM47, KCND2, KCND3, FBXW5, KCNH1, ANLN, SSH1, TERF2IP, TREM2, NANS, MRPL39, POLE3, LINC00111, KCNMA1, MPC1, IL17D, MYOZ2, MAP3K20, STK26, INPP5K, CDK12, TMEM8B, KCNQ1, WBP11, KIR3DL1, CMPK1, CAB39, SUFU, VPS50, NLRP2, ADAMTS5, KNL1, DOCK6, IFT80, STAMBPL1, HRH2, KIAA1324, MIB1, HACE1, MTUS1, AHRR, GRAMD1B, HSD3B1, NDRG3, HSD11B2, RAB22A, HSD17B1, HSD17B2, HSPA1A, HSPA1B, ARFGEF3, HSPA2, HSPA9, DNAJB1, ZNFX1, TNC, PELI2, IDH1, CLEC3B, IDH2, PLAAT1, ZNF471, AGFG1, HPN, RAB40C, LGR6, TRPV4, HOXA9, HOXA11, ABRACL, SINHCAF, DLGAP3, HOXB5, PRUNE1, HOXB9, CREBZF, CXCL16, HOXC9, TRIB3, HPD, GBA3, HOXD3, METTL14, PRX, SFMBT2, DENND1A, CHD8, EPB41L5, ZBTB4, HOXD9, USP28, LRRN1, ZBTB2, PDSS2, PCBP4, DDX27, TWSG1, MYDGF, KLHL7, DMAP1, ACSS2, LMO3, IL7, IL9, HDAC8, WWC3, SELENOS, DCAF6, PAG1, KDM3A, ST6GALNAC1, DCP1A, IL12A, CACNA2D3, IL12RB1, NGLY1, CCAR1, CNDP2, IL12RB2, IL13, IL15, VPS35, TENM3, IARS2, LIMS2, FOXK2, PCDHGA9, PCDHA@, IHH, IFRD1, IFIT2, IFNA1, IFNA13, IFNAR1, IFNB1, IFNGR2, CEACAM19, SMYD2, PMEPA1, LXN, IFNW1, UBQLN4, TCIM, TCEAL7, GSDMC, SLC2A4RG, RETN, AKIP1, MUC13, LINC00470, IGF2R, DNAJC12, IGFBP5, IGFBP6, PARD3, RBPJ, CTNNBL1, SUSD2, LASP1, LBP, RSRC1, GSE1, KAT6B, NF1, NFIA, PES1, SEC11A, NFIB, ETHE1, CBX5, NFIC, OTP, NFIX, NFKB2, NFKBIA, NFKBIB, FRAT2, UBR4, NID1, NEDD4L, NME2, SATB2, ICOSLG, UBR2, NQO2, ADGRL2, NODAL, VPS13A, RHOBTB2, NONO, RRS1, PRAME, SEC14L2, GTPBP4, SPDEF, SYF2, MYH11, CLIC4, SOSTDC1, MYLK, MYO5B, TRIM58, MYOD1, FBXL2, NAB1, TAFA5, NAGLU, BAMBI, RAB3GAP2, ARL2BP, NASP, IL17RA, GABARAPL1, GSPT2, NCAM1, PRKD3, NCF2, NDUFB6, NEK3, FAM215A, DDX58, NEU2, DDAH1, CCN3, FBXL7, SLC25A37, KANK1, IKZF3, COG2, NTS, OIP5, NUCB2, NUP98, ATXN2L, PTGDR2, ZHX1, OAZ2, GALNT6, FZD10, TNFRSF11B, OPRD1, OSM, OTX1, P2RX7, MAP4K1, WDHD1, PSIP1, P2RY2, P2RY6, HHLA2, KAT7, FAF1, BTN3A2, EMILIN1, KRR1, PRSS23, MRAS, PHLDA1, DLGAP4, NTRK1, NPR1, PHF8, PLXND1, NPTX1, SARM1, KIF1B, ARHGAP26, ZC3H13, PEG10, ZNF609, MYT1L, USP33, NTHL1, TPX2, RAB11FIP2, TRIM32, NTRK2, NTRK3, RAB18, MAPRE1, MMRN1, ROR1, ROR2, ZHX2, MORC2, CILK1, VASH1, PPM1E, KANK2, NUDT13, SH2B1, KRT23, LY6E, LYZ, KLK12, CAPRIN1, PIK3R4, MARCKS, CXXC1, VSX1, SMAD1, MAGEA3, NOP53, RHOD, DONSON, UBQLN1, IL19, MAGEA4, MAGEA6, MAGEA12, ICOS, YPEL1, CARD10, TMOD4, MAT2A, MBS1, MCAM, PRSS50, TBK1, MEF2D, LINC00339, DHH, LTBP2, CYP4F3, SERPINA10, ARMCX1, KCNK9, TIMMDC1, THEG, LEPR, CLEC1B, MZB1, LGALS2, NUSAP1, LGALS3BP, PLEKHO1, LGALS7, LIFR, LIG3, BHD, SDF4, A4GNT, LLGL2, LMO1, SH3GLB1, LNPEP, LOXL1, LPA, LRP6, LRP5, DESI2, LRPAP1, DERL2, UBE2T, ATAD2, KLF15, FBXO24, GAGE12I, CKAP2, ND3, IL36RN, LATS2, TIMM9, SEZ6L2, GNL3, HSPB8, MTX1, MYCBP, TINF2, FBXO8, PTTG3P, DNAJC2, MUC3A, FBXO2, DGCR5, PITPNC1, SENP3, MUSK, MMUT, MYB, GPSM1, KLK13, MYBL2, SETBP1, CHD5, HAVCR1, FOXD3, MFAP2, TOX3, HIPK2, NOB1, MELTF, SCGB2A1, MGAT5, CD99, TRAC, MICB, SGSM3, DESI1, TMEM97, FOXO4, TNRC6A, RBMS3, CYTB, SRPX2, PCDH17, MMP8, IL37, GLS2, MMP16, CD200, DKK4, BBC3, MT1F, MTBP, SND1, LAT, H3P29
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X-Linked Intellectual Disability
Wikipedia
Contents 1 Syndromes 2 List of genes 3 See also 4 References 5 External links Syndromes [ edit ] Several X-linked syndromes include intellectual disability as part of the presentation. These include: Coffin–Lowry syndrome MASA syndrome MECP2 duplication syndrome X-linked alpha thalassemia mental retardation syndrome mental retardation and microcephaly with pontine and cerebellar hypoplasia List of genes [ edit ] Following is a list of genes located on the X chromosome and linked to intellectual disability. ... PMID 20014364 . ^ "OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME" . omim.org . Retrieved 2018-03-09 . ^ "Microduplication Xp11.22-p11.23 syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ... "Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability" . ... External links [ edit ] Classification D MeSH : D038901 v t e X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency Hematologic Haemophilia A Haemophilia B X-linked sideroblastic anemia Endocrine Androgen insensitivity syndrome / Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita Metabolic Amino acid : Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia : Adrenoleukodystrophy Carbohydrate metabolism : Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder : Fabry's disease Mucopolysaccharidosis : Hunter syndrome Purine–pyrimidine metabolism : Lesch–Nyhan syndrome Mineral : Menkes disease / Occipital horn syndrome Nervous system X-linked intellectual disability : Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism ( 1 ) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2 Skin and related tissue Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy Neuromuscular Becker's muscular dystrophy / Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1 Urologic Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus Bone / tooth AMELX Amelogenesis imperfecta No primary system Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome X-linked dominant X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia v t e Cell membrane protein disorders (other than Cell surface receptor , enzymes , and cytoskeleton ) Arrestin Oguchi disease 1 Myelin Pelizaeus–Merzbacher disease Dejerine–Sottas disease Charcot–Marie–Tooth disease 1B, 2J Pulmonary surfactant Surfactant metabolism dysfunction 1, 2 Cell adhesion molecule IgSF CAM : OFC7 Cadherin : DSG1 Striate palmoplantar keratoderma 1 DSG2 Arrhythmogenic right ventricular dysplasia 10 DSG4 LAH1 DSC2 Arrhythmogenic right ventricular dysplasia 11 Integrin : cell surface receptor deficiencies Tetraspanin TSPAN7 X-Linked mental retardation 58 TSPAN12 Familial exudative vitreoretinopathy 5 Other KIND1 Kindler syndrome HFE HFE hereditary haemochromatosis DYSF Distal muscular dystrophy Limb-girdle muscular dystrophy 2B See also other cell membrane proteins v t e Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulators GTPase-activating protein Neurofibromatosis type I Watson syndrome Tuberous sclerosis Guanine nucleotide exchange factor Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1 G protein Heterotrimeic cAMP / GNAS1 : Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2 Monomeric RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF : SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3 MAP kinase Cardiofaciocutaneous syndrome Other kinase / phosphatase Tyrosine kinase BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency Serine/threonine kinase RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4 / WNK1 Pseudohypoaldosteronism 2 Tyrosine phosphatase PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis Signal transducing adaptor proteins EDARADD EDARADD Hypohidrotic ectodermal dysplasia SH3BP2 Cherubism LDB3 Zaspopathy Other NF2 Neurofibromatosis type II NOTCH3 CADASIL PRKAR1A Carney complex PRKAG2 Wolff–Parkinson–White syndrome PRKCSH PRKCSH Polycystic liver disease XIAP XIAP2 See also intracellular signaling peptides and proteins v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions ) v t e Inherited disorders of trafficking / vesicular transport proteins Vesicle formation Lysosome / Melanosome : HPS1 – HPS7 Hermansky–Pudlak syndrome LYST Chédiak–Higashi syndrome COPII : SEC23A Cranio-lenticulo-sutural dysplasia COG7 CDOG IIE APC: AP1S2 X-linked intellectual disability AP3B1 Hermansky–Pudlak syndrome 2 AP4M1 CPSQ3 Rab ARL6 BBS3 RAB27A Griscelli syndrome 2 CHM Choroideremia MLPH Griscelli syndrome 3 Cytoskeleton Myosin : MYO5A Griscelli syndrome 1 Microtubule : SPG4 Hereditary spastic paraplegia 4 Kinesin : KIF5A Hereditary spastic paraplegia 10 Spectrin : SPTBN2 Spinocerebellar ataxia 5 Vesicle fusion Synaptic vesicle : SNAP29 CEDNIK syndrome STX11 Hemophagocytic lymphohistiocytosis 4 Caveolae : CAV1 Congenital generalized lipodystrophy 3 CAV3 Limb-girdle muscular dystrophy 2B , Long QT syndrome 9 Vacuolar protein sorting : VPS33B ARC syndrome VPS13B Cohen syndrome DYSF Distal muscular dystrophy See also vesicular transport proteinsIL1RAPL1, ZNF41, UPF3B, ZNF711, ZNF674, RAB39B, SYP, DLG3, OPHN1, ATRX, PQBP1, SLC6A8, CASK, PAK3, IQSEC2, ZMYM3, GDI1, ARHGEF9, AGTR2, BRWD3, FGD1, ZNF81, DIPK2B, ARHGEF6, MAOA, PCDH19, XK, PTCHD1, RAB40AL, ARX, PHF8, KDM5C, MECP2, FMR1, CUL4B, FRAXE, RPS6KA3, L1CAM, AP1S2, MBD2, ABCG2, AFF2, SOX3, ACSL4, ATR, SLC16A2, SMS, SMARCA1, UBE2A, SLC9A6, FTSJ1, PHF6, HSD17B10, GRIA3, ZCCHC12, MED12, ATP6AP2, IL1RAPL2, ARHGAP1, KIAA1109, CACUL1, CDKL5, F9, REST, G6PD, SOS1, THOC2, WNK3, IL1B, PJA1, IL1RAP, NLGN4X, SHROOM4, NXF5, IL1A, IL17RB, WWOX, DTL, VCX3A, ZDHHC9, RPS6KA6, MRX49, MUL1, TMEM47, KDM7A, OCRL, MRX82, FGF13, NEXMIF, FRAXA, MRX81, ELK1, GFAP, ZDHHC15, CBLL2, GH1, HCFC1, AR, TMEM185A, AGFG1, HTC2, PAMR1, MRX73, SYN1, CHD3, IL18RAP, CLCN4, UXT, SMARCA2, USP9X, ZMYM2, CD34, SMARCA4, NCS1, XIST, ALAS2, TYMS, TP53, TSPAN7, TERC, CHM, RDXP2, RBBP7, CALCR, RASGRF1, PHOX2A, RCOR1, DMD, STS, ARSD, MID2, MAGED2, DAXX, GPHN, OLIG2, PRKN, PDC, HUWE1, PLP2, POU3F4, CALR
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Thyroid Cancer
Wikipedia
May occur in women with familial adenomatous polyposis and in patients with Cowden syndrome . Newly reclassified variant: noninvasive follicular thyroid neoplasm with papillary-like nuclear features is considered an indolent tumor of limited biologic potential. Follicular thyroid cancer (10 to 20% of cases [22] ) – occasionally seen in people with Cowden syndrome. Some include Hürthle cell carcinoma as a variant and others list it as a separate type. [3] [23] Medullary thyroid cancer (5 [22] to 8% of cases) – cancer of the parafollicular cells, often part of multiple endocrine neoplasia type 2 . [24] Poorly differentiated thyroid cancer Anaplastic thyroid cancer (less than 5% of cases [22] ) is not responsive to treatment and can cause pressure symptoms.RET, BRAF, KRAS, NRAS, HRAS, TP53, TSHR, SLC5A5, CXCL8, PPARG, CCND1, TERT, MSH6, NCOA4, PTGS2, TPM3, PRKAR1A, RAP1GAP, HIF1A, CCL2, IL6, TNF, ENPP2, IL1B, EPOR, CXCL10, PRDM2, EPO, BRD4, PDGFA, PTGES2, TCF7L1, CSF2, HPGD, IFNA2, RXRA, TPR, CDKN1A, HABP2, CP, PTEN, LAMA2, CDK1, PIK3CA, GNAS, MLH1, MSH2, EPCAM, GDNF, TGFBR2, RPS20, CTNNB1, CCDC6, AKT1, CDKN2A, MLH3, PIK3CG, NTRK1, PIK3CD, LOC110806263, TPCN1, FAN1, PIK3CB, SGSM3, ECE1, NRTN, SEMA3C, PAX8, BMPR1A, HT, NKX2-1, LMNA, F9, MAPK1, TPO, SEMA3D, FN1, SEMA4A, VEGFA, PMS2, TAS2R38, BCL2, EGFR, EDNRB, PMS1, EDN3, TG, PTCH1, LGALS3, FOXE1, GSTT1, MMP2, RASSF1, TGFB1, S100A4, STAT3, ERBB2, HMGA2, XRCC1, MTOR, EPHB2, APC, CD274, MUC1, VEGFC, KRT19, ESR1, EGF, IGF1, CALCA, MIR146B, GSTM1, THRB, CYP19A1, GSTP1, NOTCH1, PTTG1, PROM1, RUNX2, CXCR4, TNFSF10, MAP2K7, XRCC3, PTTG1IP, TP73, THBS1, SMUG1, TIMP1, FAS, FOLH1, CD44, MALAT1, ALK, SLC26A4, MET, MTHFR, FGF2, SMAD4, TTF1, LCN2, TFF3, SST, FGFR2, LOX, NFE2L2, FHIT, IDH1, TICAM2, IDH2, IFI27, ARHGAP24, BDNF, MIR221, ICAM1, ZEB1, GDF1, MMP9, MIR146A, RNH1, SHC3, DCTN6, RARB, TMED7, TMED7-TICAM2, ZNRD2, HMGA1, H3P23, PTCSC3, SERPINB5, IL10, FOXA1, PTH, ZNF395, CDH1, PSMD9, PCNA, SLC2A1, CYP1A1, KDR, PAK1, PPP1R13L, RAF1, PTK2, LEP, PARP1, RELA, MMP14, MIR21, SPP1, RLN2, MEN1, ID1, HSP90AA1, SAI1, UCA1, SYT1, ALB, MAP2K1, MMP11, MDM2, HNF1B, RPE65, SOD3, TEP1, GABPA, ADGRE5, TWIST1, AR, YAP1, TMPRSS4, PLK1, RASAL1, MIR126, BECN1, IQGAP1, PKM, SLIT2, FBLIM1, ABCG2, GDF15, CRABP1, GOPC, TXNRD2, CCND2, POSTN, ADGRE2, CCR6, CKAP4, CHEK2, HPGDS, CDKN1B, SOSTDC1, CDK4, TCIM, TP63, BAG3, EIF4E, PATZ1, IGF2, UVRAG, PRIMA1, SNHG15, ATM, SLCO6A1, EZH2, AFAP1-AS1, IGF1R, GSTK1, IGFBP7, EIF1AX, WNK1, GORASP1, ECM1, TP53BP1, MT1G, MST1, PDGFB, PTGDS, PDCD1, PDGFRA, NTRK3, MMP1, COX2, NFKB1, NNMT, POU5F1, MFAP1, MGMT, NME1, MKI67, PLAU, MYC, NRCAM, NAT2, PTPN11, NECTIN1, CCDC80, MTDH, SNHG7, AFAP1L2, RASSF5, MUL1, C14orf93, NDRG2, SMURF1, ZNF331, KRT20, ERRFI1, IL23A, ABI3, NDUFA13, LINC00312, SNX5, NUPR1, ABI3BP, KLB, MIR148A, MIR150, MIR497, MTCO2P12, KLLN, VTRNA2-1, HOTAIR, MIR625, POU5F1P4, POU5F1P3, MIR524, MIR375, MIR19A, MIR338, MIR7-3, MIR7-2, MIR7-1, MIR27A, MIR205, MIR204, MIR20A, CBX7, SIRT3, DICER1, STC1, TSG101, TSC2, SEC62, THRA, TAZ, TAF1, STRN, STK11, SSTR2, MBD1, SSTR1, SRC, SNAI1, SLC2A3, SDHD, S100B, S100A1, RAD51, TXN, VDR, ZHX2, GRAP2, UBE2C, WDR3, PDPN, TXNIP, AKAP9, AKT3, HDAC9, NR1D1, KL, VHL, IL32, XPR1, SPHK1, PPM1D, BAP1, TKTL1, WT1, VIM, MBL2, H3P10, HDAC2, CDKN2C, CDKN2B, ETV6, LAMB3, IL4, CD40, FOXO3, BSG, KIT, INSR, NRG1, ESR2, GSTM2, CDK5, BAK1, BAAT, CDH6, GPX3, APRT, FGFR4, MAPK14, DECR1, JUN, ETS1, GRK2, FOS, CYP3A4, BUB1B, GH1, ACTB, DPP4, CCR7, CXCR1, TACSTD2, RCAN1, DIO2, HSPG2, GPER1, CLU, H2AX, GOT2, CYP24A1, CEACAM5, CAV1, CEBPB, CLDN7, GSM1, GNB3, BUB1, TSPO, CA12, PAG1, CAPN5, TMEM184C, ATF7IP, WDR11, USE1, SMAD7, MREG, HIF1AN, MIEF1, CAMP, DLL4, SLC35F2, CALCR, TRIM44, GATAD2A, SYTL2, RASIP1, TUG1, ATG16L1, PACC1, ZNF654, FBXW7, EMSY, LGR4, DDR1, SAGE1, IL17RB, HEMGN, XPO5, SLC12A9, ALX4, KLF5, TINAGL1, SOX17, HHIP, INF2, BRS3, CREB3L2, MARCKSL1, BMP4, FRTS1, UBE2Z, DUSP26, GGCT, MAPKAP1, FSD1, BHLHE41, BMP1, GAS5, LGR6, ACKR3, ACE2, PCBP4, SLURP1, PELI1, TSE2, AICDA, BTG1, INTS2, CASP8, SRGAP1, MIB1, SEMA6A, KLHL14, NCOA5, ANKRD36B, HAMP, CXCL16, IL21, TERF2IP, REV1, CPSF2, CD74, NEMP1, SASH1, CDKN1C, SIRT4, SIRT1, ANGPTL2, CDK2, LPAR3, CDH5, SNHG1, ERC1, PPP1R15A, TRIM29, PRDX5, METTL7A, CD68, RNF19A, POT1, CD63, WWTR1, KAZN, PPRC1, POLDIP2, SDS, HCP5, C1QL1, PPARGC1A, GADD45G, COPS8, CBX1, RAB40B, TMED10, COPS6, CETN1, DKK1, RAPGEF4, CORO1A, WIF1, SLCO2B1, TDGF1P6, COPZ1, KLRK1, MMRN1, RPIA, LRIG1, NOC2L, DUOX1, RUNX3, NOX4, DELEC1, IL22, F11R, FOXP3, TCO, CCNC, CCKBR, SDF4, ZMYND10, STOML2, RHBDF2, SIRT7, LARP7, GINS2, GHRL, WWOX, CAT, CASR, FXYD5, DUOX2, CCNE1, FGF21, PDCD4, EHF, CD40LG, FOXD3, NOX1, LAT, TSPAN13, DKK3, CD34, IL37, CD86, SPANXA1, RABGEF1, MS4A1, RGCC, NOB1, PYCARD, CD1D, TFCP2L1, CCNG2, OBP2A, TCTN1, BID, VTCN1, MIR30A, MIR34A, APAF1, ANXA6, ANXA5, MIR17HG, NR2F1-AS1, NRARP, VN1R17P, ZFAS1, GPR166P, MIR326, MIR335, ANXA1, MIR340, MIR369, MIR370, MIR361, ANPEP, MIR383, DUXAP9, MIR429, MIR30D, MIR299, WLS, MIR296, MIR182, MIR184, MIR196A2, MIR197, FASLG, KLK3, MIR200A, BIRC5, MIR206, XIAP, MIR211, MIR212, MIR214, MIR217, MIR218-1, MIR218-2, APEX1, MIR222, MIR25, MIR26B, APEH, MIR451A, ANGPT2, AMH, AMBP, ADRA2B, MIR4319, PROX1-AS1, CCAT1, MICA, KLRC4-KLRK1, SPRY4-IT1, FALEC, OPCML-IT1, BANCR, LINC00210, ADRA1A, FOXD3-AS1, PANDAR, DARS-AS1, PTCSC2, LINC01410, PARP4, ADCYAP1, H3P17, H3P47, MANCR, MIR1225, TNRC6C-AS1, MIR592, MIR510, ALOX15, RASSF10, ALOX12, PARP4P2, LOC646736, ALDH1A1, CXADRP1, MIR539, MIR622, MIR885, ALCAM, MIR639, MIR650, POTEF, UNC5B-AS1, AHR, AFM, MIR875, MIR873, MIR18A, MIR17, MIR15A, HORMAD2, MIR22HG, DNER, PKHD1L1, PRDM6, HTRA3, PRRT2, CYTOR, LINC00313, LMTK3, VASN, NIBAN1, MRGPRX3, MRGPRX4, LRRK2, ATP5F1E, PPARGC1B, GPR151, ATIC, MUC15, ATF1, SPC24, RITA1, MASTL, ADGRG7, CEACAM1, BLM, FHOD3, PPP1R2C, ULBP2, ITIH5, LIMD2, COL18A1, SPRY4, HPSE, BCR, RTN4IP1, ITCH, FSD1L, MRO, ING5, PROK1, CARD11, BCAT2, BAX, FOXD2-AS1, GLIS1, ASCL1, MIR154, ASAH1, RSPO2, ZNF677, RHOB, BMP8A, RHOA, ARG2, LINC01194, MIRLET7C, MIR100, MIR106A, MIR106B, MIR125A, ARG1, MIR132, MIR137, MIR139, MIR143, MIR145, ARAF, AQP4, AQP3, TMED10P1, ATG9B, ARR3, METTL7B, RDH10, CBLL2, DEUP1, SLC5A8, OXER1, DACT2, GLIS3, ZCCHC12, ZNF367, FLCN, NEAT1, ANO5, DIPK2A, USF3, UNC5B, GPRC6A, ARSA, CTAG1A, CASC2, MRGPRX1, LILRB1, HMGN4, CNR2, NES, HNRNPD, PTPRF, PTPRJ, FOXA2, RAD9A, HMOX1, RAD52, HMGB1, RAP1A, RAP1B, MR1, RAP2A, RARA, HLA-G, RBBP4, RBP1, OPN1LW, HLA-C, HIC1, RGS4, RLN1, PTPN2, PTPN1, PTMS, PROX1, PRKCE, PRKCQ, PRKDC, IFNA13, MAPK3, MAPK8, IFNA1, ID3, EIF2AK2, TNC, PTMAP4, HSPA9, HSPA5, HPT, HPRT1, PTGS1, HOXC10, PTH1R, HNRNPF, PTMA, HHEX, RNASE3, ABCE1, GPX1, CXCL1, GRB14, SLC6A9, SLC7A1, SLC16A2, SLIT3, SLPI, SNAI2, HLTF, FSCN1, SKP2, GPR42, SORD, SOX9, SOX11, SP1, SPG7, CXCR3, SRP72, GPD2, SLC1A3, SHH, ROS1, GYPA, HGF, RPL29, RPL36A, RRAS, HDAC1, RXRG, HBB, SORT1, S100A6, GUSB, SGK1, SCD, SCN10A, CCL15, CCL20, SDC1, SDC2, SDHB, SDHC, SELP, PRKCD, PRKCB, PRKCA, MYCN, LASP1, MT1M, COX1, L1CAM, MYO1F, KIF22, MUTYH, MVD, MYCL, MYH9, LDHA, NCAM1, KISS1, NFIL3, KIR3DL1, KIR2DS5, CD82, JUP, NOTCH3, NOVA1, MT1A, LETM1, JUND, LRP1, MCL1, MCM7, SMAD3, MDM4, MAD2L1, BCAM, KITLG, LRPAP1, LRP4, LPA, CITED1, LOXL2, MMP7, LIMK1, LIG4, MMP13, LGALS1, MOS, MRC1, ABCC1, NPM1, JUNB, IFNG, IL1A, SERPINE2, IL17A, IL13RA2, CXCR2, PIN1, PITX2, PLAG1, IL2, IL1R1, IGSF1, SERPINA1, IGFBP5, POU5F1B, PPARA, PPARD, IGF2R, PPP6C, PRKAA1, PRKAA2, PRKAB1, IL18, PHB, ITGB4, PCM1, ITGB1, P2RX7, PA2G4, PAEP, ITGAM, REG3A, PRKN, PCBP1, SERPINA5, ITGA3, PGR, PCSK2, IRS1, IRF5, INSL3, IDO1, ILK, PECAM1, PEG3, PGF, SSTR3, SSTR4, ST13, S1PR2, SPAG9, CLDN1, SLC16A4, SLC16A3, CCNE2, LPAR2, DCN, DHRS3, PDLIM7, KLF4, ACE, TRIP13, CYP2B6, UBE4A, CXADR, CCN2, CTAG1B, GSTO1, MAP4K4, NAPSA, SOCS3, ALDH1A2, CSF1R, PEA15, NQO1, AGPS, BHLHE40, MADD, PDLIM4, CYB5R3, PTCH2, NCOA1, PDE5A, CDC23, AKAP4, MBTPS1, DDT, RAB11A, INPP4B, DDIT3, AKR1C2, HCAR3, KSR1, CDK5R1, CST6, CXCL14, DIAPH1, CIB1, TFG, CITED2, NDRG1, BASP1, RAPGEF3, CRK, MC1R, SEC23B, CREBBP, CLDN4, CTDSPL, AHSA1, MAP3K8, COL11A2, COL1A1, IGF2BP3, KHDRBS1, CXCR6, CNTN1, PTGES3, SPRY2, TRIM13, MINPP1, WDR1, CSF1, CLOCK, PCLAF, RASSF2, EIF4A3, TOMM20, KEAP1, PJA2, ZBTB5, GOLGA5, PSME3, MED12, NR1I3, RBX1, REC8, CRYZ, HDAC6, HUWE1, CRYGD, PDZK1IP1, TTF2, CAVIN2, GPC3, FGF3, TIE1, FOXO1, TIMP3, TIMP4, FOXM1, TJP1, VEGFD, TLR3, TLR4, PTK2B, FLT4, FABP4, F3, EZH1, TPT1, TRPC1, TSC1, ETFA, ESRRA, ERCC5, FLT3, TGFB3, TXNRD1, HNF1A, GJB3, STK3, STK4, GHRHR, GHRH, GFRA1, ABO, GEM, TBX15, GAS6, FOSB, TCF3, GAPDH, TCP1, GAP43, FYN, TF, TFAP2B, FUCA1, FRA16D, ERCC2, UBE2N, RECK, AIMP2, YY1, ZIC1, ZNF20, DUSP6, DAP3, BTG2, DUSP4, IL1R2, NTT, DNMT3A, XRCC5, SHOC2, RASSF7, DNMT1, IFT88, SLC7A5, SARDH, FZD1, FZD4, FZD8, YES1, XRCC4, UCHL1, ELAVL1, UCP2, UPP1, USF1, USF2, ERBB3, VCP, VDAC2, ELK1, ELF3, EIF2S1, E2F1, EZR, EGR1, WIPF1, WNT5A, WRN, EDNRA, XIST, EDN1, XRCC2, TBX1
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Pik3ca-Related Segmental Overgrowth
Gene_reviews
Figure 2. Features of MCAP syndrome. A boy age 40 months with MCAP syndrome (left) and his unaffected twin sister (right). ... CLOVES (or CLOVE) syndrome and fibroadipose hyperplasia (Table 2) may be associated with MEG or HMEG, and thus overlap with MCAP syndrome [Gucev et al 2008]. ... Proteus syndrome can be primarily distinguished from CLOVES syndrome and fibroadipose hyperplasia by the postnatal onset of overgrowth. ... HHML syndrome may overlap with CLOVES syndrome given that overgrowth can be progressive and spinal complications and scoliosis have been reported [Lindhurst et al 2012]. SOLAMEN syndrome is characterized by atypical features of Cowden syndrome including segmental overgrowth, lipomatosis, arteriovenous malformation, and epidermal nevi.
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Capillary Malformation-Arteriovenous Malformation Syndrome
Gene_reviews
Each child of an individual with CM-AVM syndrome has a 50% chance of inheriting the pathogenic variant. ... Suggestive Findings CM-AVM syndrome should be suspected in individuals who have any of the following: Capillary malformations (CMs), the hallmark of CM-AVM syndrome. ... Another estimate of prevalence using the Exome Aggregation Consortium dataset is around 1:20,000 ( RASA1 -CM-AVM syndrome) and 1:12,000 ( EPHB4- CM-AVM syndrome) [Amyere et al 2017]. ... Large capillary malformations are not typical. GNAQ Sturge-Weber syndrome (SWS) (OMIM 185300) See footnote 2. ... To date no RASA1 pathogenic variants have been identified in individuals with typical Klippel-Trenaunay syndrome [Revencu et al 2013a]. 8. PTEN hamartoma tumor syndromes include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN -Proteus syndrome, and Proteus-like syndrome. 9.
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Carney Complex
Gene_reviews
Symptomatic individuals have Cushing syndrome. The hypercortisolism of PPNAD is usually insidious in onset. ... Disorders in which lentigines occur include benign familial lentiginosis (OMIM 151001), Peutz-Jeghers syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome, and the Bannayan-Riley-Ruvalcaba syndrome, which is one of the phenotypes observed in the PTEN hamartoma tumor syndrome. The café au lait macules of Carney complex (CNC) can resemble those of McCune-Albright syndrome, neurofibromatosis 1, neurofibromatosis 2, and Watson syndrome (OMIM 193520). ... Endocrine tumors. Thyroid tumors also occur in Cowden syndrome, one of the phenotypes observed in the PTEN hamartoma tumor syndrome. ... Adrenal cortical tumors are also seen in Beckwith-Wiedemann syndrome, Li-Fraumeni syndrome, multiple endocrine neoplasia type 1, congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency, and the McCune-Albright syndrome [Kjellman et al 2001].PRKAR1A, MEN1, GH1, NR1I3, CXADRP1, CXADR, CNC2, TRIM13, SPG7, CASR, ARR3, SLC8A1, POMC, GNAS, RCVRN, APRT, MFAP1, CDKN1B, AIP, CYP3A4, PDE11A, PRKAR1B, PRL, NR1I2, STK11, SSTR4, HCAR3, SST, UGT1A, SCLC1, ASMTL, SMARCB1, DICER1, USP8, LPAR2, CXCR6, SGSM3, TRAC, GAL, SDF4, UGT1A1, ACKR3, PTBP2, WDR26, ADO, CABLES1, AZIN2, GADL1, SMARCA4, ADRA1A, SDHC, RET, BRS3, CAT, CAV1, CD247, CD19, CETN1, CTNNB1, CYP2B6, CYP19A1, EDNRA, MTOR, GNA11, GPR42, NR3C1, CXCL2, HTC2, IGF1, INHA, ITGA5, ITGAL, ITGAV, ITGB2, KCNJ2, KCNJ5, MAS1, MPO, MSH2, ADRA2B, PTEN, PRKACB