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Nevoid Basal-Cell Carcinoma Syndrome
Wikipedia
Nevoid basal-cell carcinoma syndrome Other names Basal-cell nevus syndrome , Multiple basal-cell carcinoma syndrome , Gorlin syndrome , and Gorlin–Goltz syndrome Micrograph showing keratocystic odontogenic tumour , a common finding in nevoid basal-cell carcinoma syndrome ( H&E stain ) Specialty Medical genetics Nevoid basal-cell carcinoma syndrome ( NBCCS ), is an inherited medical condition involving defects within multiple body systems such as the skin , nervous system , eyes , endocrine system , and bones . [1] People with this syndrome are particularly prone to developing a common and usually non-life-threatening form of non- melanoma skin cancer . ... People with NBCCS need education about the syndrome, and may need counseling and support, as coping with the multiple BCCs and multiple surgeries is often difficult. ... "Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome". N Engl J Med . 262 (18): 908–12. doi : 10.1056/NEJM196005052621803 . ... "Human homolog of patched , a candidate gene for the basal cell nevus syndrome". Science . 272 (5268): 1668–71. ... External links [ edit ] Classification D OMIM : 109400 MeSH : D001478 DiseasesDB : 5370 External resources MedlinePlus : 001452 eMedicine : derm/291 GeneReviews/NCBI/NIH/UW entry on Nevoid Basal Cell Carcinoma Syndrome GeneReviews/NCBI/NIH/UW entry on 9q22.3 Microdeletion US National Library of Medicine page 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 receptorsPTCH1, SUFU, PTCH2, PTH, GLI2, TP53, GLI1, SMO, BCL2, SHH, LMNA, TGFBR1, RET, F9, ROR2, PCNA, TAS2R38, CCDC6, SUMO2, STK11, TAC1, TACR1, SUMO3, SLC2A3, SLC2A1, ALDH1A1, XRS, BAP1, LATS1, ZMPSTE24, ZNRD2, PDPN, DCTN6, HPSE, TMED7, RAB23, MIB1, ZFHX4, TICAM2, TMED7-TICAM2, LOC110806263, TP63, PSMD9, PTPN3, GLB1, FAS, BAX, CCND1, CCNB1, CYP1A1, CYP2B6, CYP2D6, DMPK, DSG2, XRCC6, GAS1, GC, GPC3, GSTM1, APC, GSTT1, HLA-DRB1, HTC2, IFI27, KRT14, MC1R, MAP3K1, MKI67, MMP3, MYC, NCAM1, NF1, PI3, H3P23
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Nelson's Syndrome
Wikipedia
The advancements have allowed physicians to pursue routes for Cushing's syndrome therapy that don't involve bilateral adrenalectomy . [2] Nelson's syndrome is also referred to as post adrenalectomy syndrome, a possible result of adrenalectomy performed for Cushing's syndrome. [3] Corticotroph adenomas are detected in more females than males. Therefore, Nelson's syndrome is observed in more females than males. ... This has decreased the risk of patients presenting with Nelson's syndrome. Alternative treatments for Nelson's syndrome have been discovered. The most utilized technique for Nelson's syndrome has been transsphenoidal surgery . ... ISSN 1365-2265 . PMID 9876353 . ^ "Nelson's Syndrome. Read about Nelson's syndrome | Patient" .
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Sack–barabas Syndrome
Wikipedia
Sack–Barabas syndrome Other names vEDS [1] This condition is inherited in an autosomal dominant manner Sack–Barabas syndrome is an older name for the medical condition Ehlers-Danlos syndrome , vascular type. ... Genetic counseling is recommended for prospective parents with a family history of Ehlers–Danlos syndrome. Affected parents should be aware of the type of Ehlers-Danlos syndrome they have and its mode of inheritance. ... This condition is now called Ehlers–Danlos syndrome, vascular type [formerly EDS type IV]. See also [ edit ] Ehlers–Danlos syndrome References [ edit ] ^ RESERVED, INSERM US14-- ALL RIGHTS. ... External links [ edit ] Classification D ICD - 10 : Q79.6 OMIM : 130050 External resources Orphanet : 286 eds4 at NIH / UW GeneTests v t e Diseases of collagen , laminin and other scleroproteins Collagen disease COL1 : Osteogenesis imperfecta Ehlers–Danlos syndrome, types 1, 2, 7 COL2 : Hypochondrogenesis Achondrogenesis type 2 Stickler syndrome Marshall syndrome Spondyloepiphyseal dysplasia congenita Spondyloepimetaphyseal dysplasia, Strudwick type Kniest dysplasia (see also C2/11 ) COL3 : Ehlers–Danlos syndrome, types 3 & 4 Sack–Barabas syndrome COL4 : Alport syndrome COL5 : Ehlers–Danlos syndrome, types 1 & 2 COL6 : Bethlem myopathy Ullrich congenital muscular dystrophy COL7 : Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Bart syndrome Transient bullous dermolysis of the newborn COL8: Fuchs' dystrophy 1 COL9: Multiple epiphyseal dysplasia 2, 3, 6 COL10: Schmid metaphyseal chondrodysplasia COL11: Weissenbacher–Zweymüller syndrome Otospondylomegaepiphyseal dysplasia (see also C2/11 ) COL17: Bullous pemphigoid COL18: Knobloch syndrome Laminin Junctional epidermolysis bullosa Laryngoonychocutaneous syndrome Other Congenital stromal corneal dystrophy Raine syndrome Urbach–Wiethe disease TECTA DFNA8/12, DFNB21 see also fibrous proteins
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Weill–marchesani Syndrome
Wikipedia
Rare generic disorder Weill–Marchesani syndrome Other names Spherophakia-brachymorphia syndrome, congenital mesodermal dystrophy, GEMSS syndrome A six-year-old female with Weill-Marchesani syndrome, which has caused a dislocated lens. ... Researchers suggest that Weill–Marchesani syndrome may have autosomal recessive or autosomal dominant inheritance. [1] Contents 1 Diagnosis 2 Treatment 3 Prognosis 4 See also 5 References 6 External links Diagnosis [ edit ] A lens dislocation caused by Weill-Marchesani syndrome Diagnosis is made when several characteristic clinical signs are observed. There is no single test to confirm the presence of Weill–Marchesani syndrome. Exploring family history or examining other family members may prove helpful in confirming this diagnosis. [ citation needed ] Treatment [ edit ] Eye surgery has been documented to help those with ocular diseases, such as some forms of glaucoma . [2] Prognosis [ edit ] However, long term medical management of glaucoma has not proven to be successful for patients with Weill–Marchesani syndrome. ... "Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome". J Pediatr Ophthalmol Strabismus . 41 (5): 295–9. ... External links [ edit ] Classification D ICD - 9-CM : 759.89 OMIM : 608328 277600 MeSH : D056846 DiseasesDB : 29897 External resources Orphanet : 3449 GeneReviews/NCBI/NIH/UW entry on Weill-Marchesani Syndrome v t e Cytoskeletal defects Microfilaments Myofilament Actin Hypertrophic cardiomyopathy 11 Dilated cardiomyopathy 1AA DFNA20 Nemaline myopathy 3 Myosin Elejalde syndrome Hypertrophic cardiomyopathy 1, 8, 10 Usher syndrome 1B Freeman–Sheldon syndrome DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 May–Hegglin anomaly Troponin Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy 9 Other Fibrillin Marfan syndrome Weill–Marchesani syndrome Filamin FG syndrome 2 Boomerang dysplasia Larsen syndrome Terminal osseous dysplasia with pigmentary defects IF 1/2 Keratinopathy ( keratosis , keratoderma , hyperkeratosis ): KRT1 Striate palmoplantar keratoderma 3 Epidermolytic hyperkeratosis IHCM KRT2E ( Ichthyosis bullosa of Siemens ) KRT3 ( Meesmann juvenile epithelial corneal dystrophy ) KRT4 ( White sponge nevus ) KRT5 ( Epidermolysis bullosa simplex ) KRT8 ( Familial cirrhosis ) KRT10 ( Epidermolytic hyperkeratosis ) KRT12 ( Meesmann juvenile epithelial corneal dystrophy ) KRT13 ( White sponge nevus ) KRT14 ( Epidermolysis bullosa simplex ) KRT17 ( Steatocystoma multiplex ) KRT18 ( Familial cirrhosis ) KRT81 / KRT83 / KRT86 ( Monilethrix ) Naegeli–Franceschetti–Jadassohn syndrome Reticular pigmented anomaly of the flexures 3 Desmin : Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I GFAP : Alexander disease Peripherin : Amyotrophic lateral sclerosis 4 Neurofilament : Parkinson's disease Charcot–Marie–Tooth disease 1F, 2E Amyotrophic lateral sclerosis 5 Laminopathy : LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B Charcot–Marie–Tooth disease 2B1 LMNB Barraquer–Simons syndrome LEMD3 Buschke–Ollendorff syndrome Osteopoikilosis LBR Pelger–Huet anomaly Hydrops-ectopic calcification-moth-eaten skeletal dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3 Other Tauopathy Cavernous venous malformation Membrane Spectrin : Spinocerebellar ataxia 5 Hereditary spherocytosis 2, 3 Hereditary elliptocytosis 2, 3 Ankyrin : Long QT syndrome 4 Hereditary spherocytosis 1 Catenin APC Gardner's syndrome Familial adenomatous polyposis plakoglobin ( Naxos syndrome ) GAN ( Giant axonal neuropathy ) Other desmoplakin : Striate palmoplantar keratoderma 2 Carvajal syndrome Arrhythmogenic right ventricular dysplasia 8 plectin : Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex of Ogna plakophilin : Skin fragility syndrome Arrhythmogenic right ventricular dysplasia 9 centrosome : PCNT ( Microcephalic osteodysplastic primordial dwarfism type II ) Related topics: Cytoskeletal proteins
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Erythrokeratodermia Variabilis
Wikipedia
For people with this name, see Mendes (name) . "Mendes da Costa syndrome" redirects here. It is not to be confused with Da Costa's syndrome . Erythrokeratodermia variabilis Other names Progressive symmetric erythrokeratodermia, Gottron type Erythrokeratodermia variabilis is inherited in an autosomal dominant manner of inheritance Specialty Dermatology , medical genetics Erythrokeratodermia variabilis (also known as " erythrokeratodermia figurata variabilis ", " keratosis extremitatum progrediens ", " keratosis palmoplantaris transgrediens et progrediens ", [2] : 509 " Mendes da Costa syndrome ", [3] " Mendes da Costa type erythrokeratodermia ", and " progressive symmetric erythrokeratoderma ") is a rare autosomal dominant disorder that usually presents at birth or during the first year of life. [4] To date, it is thought to be caused by mutations in genes encoding for connexin channels proteins in the epidermis, leading to the misregulation of homeostasis in keratinocytes. [5] One type is characterized by generalized, persistent, brown hyperkeratosis with accentuated skin markings, while a second type is localized, with involvement that is limited in extent and characterized by sharply demarcated, hyperkeratotic plaques. [2] [6] : 565 It can be associated with GJB3 [7] and GJB4 . [8] It was characterized in 1925. [9] See also [ edit ] List of cutaneous conditions References [ edit ] ^ "OMIM Entry - # 133200 - ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1" . omim.org . ... Classification D ICD - 10 : Q82.8 OMIM : 133200 MeSH : D056266 External resources Orphanet : 316 v t e Diseases of ion channels Calcium channel Voltage-gated CACNA1A Familial hemiplegic migraine 1 Episodic ataxia 2 Spinocerebellar ataxia type-6 CACNA1C Timothy syndrome Brugada syndrome 3 Long QT syndrome 8 CACNA1F Ocular albinism 2 CSNB2A CACNA1S Hypokalemic periodic paralysis 1 Thyrotoxic periodic paralysis 1 CACNB2 Brugada syndrome 4 Ligand gated RYR1 Malignant hyperthermia Central core disease RYR2 CPVT1 ARVD2 Sodium channel Voltage-gated SCN1A Familial hemiplegic migraine 3 GEFS+ 2 Febrile seizure 3A SCN1B Brugada syndrome 6 GEFS+ 1 SCN4A Hypokalemic periodic paralysis 2 Hyperkalemic periodic paralysis Paramyotonia congenita Potassium-aggravated myotonia SCN4B Long QT syndrome 10 SCN5A Brugada syndrome 1 Long QT syndrome 3 SCN9A Erythromelalgia Febrile seizure 3B Paroxysmal extreme pain disorder Congenital insensitivity to pain Constitutively active SCNN1B / SCNN1G Liddle's syndrome SCNN1A / SCNN1B / SCNN1G Pseudohypoaldosteronism 1AR Potassium channel Voltage-gated KCNA1 Episodic ataxia 1 KCNA5 Familial atrial fibrillation 7 KCNC3 Spinocerebellar ataxia type-13 KCNE1 Jervell and Lange-Nielsen syndrome Long QT syndrome 5 KCNE2 Long QT syndrome 6 KCNE3 Brugada syndrome 5 KCNH2 Short QT syndrome KCNQ1 Jervell and Lange-Nielsen syndrome Romano–Ward syndrome Short QT syndrome Long QT syndrome 1 Familial atrial fibrillation 3 KCNQ2 BFNS1 Inward-rectifier KCNJ1 Bartter syndrome 2 KCNJ2 Andersen–Tawil syndrome Long QT syndrome 7 Short QT syndrome KCNJ11 TNDM3 KCNJ18 Thyrotoxic periodic paralysis 2 Chloride channel CFTR Cystic fibrosis Congenital absence of the vas deferens CLCN1 Thomsen disease Myotonia congenita CLCN5 Dent's disease CLCN7 Osteopetrosis A2, B4 BEST1 Vitelliform macular dystrophy CLCNKB Bartter syndrome 3 TRP channel TRPC6 FSGS2 TRPML1 Mucolipidosis type IV Connexin GJA1 Oculodentodigital dysplasia Hallermann–Streiff syndrome Hypoplastic left heart syndrome GJB1 Charcot–Marie–Tooth disease X1 GJB2 Keratitis–ichthyosis–deafness syndrome Ichthyosis hystrix Bart–Pumphrey syndrome Vohwinkel syndrome ) GJB3 / GJB4 Erythrokeratodermia variabilis Progressive symmetric erythrokeratodermia GJB6 Clouston's hidrotic ectodermal dysplasia Porin AQP2 Nephrogenic diabetes insipidus 2 See also: ion channels This genetic disorder article is a stub .
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Autosomal Dominant Deafness-Onychodystrophy Syndrome
Orphanet
A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. ... Molecular genetic testing identifying a ATP6V1B2 mutation may confirm the diagnosis but as it is at present uncertain whether DDOD syndrome is genetically heterogeneous, the absence of a mutation will not mean that a diagnosis of DDOD syndrome is incorrect. Differential diagnosis The main differential diagnosis is DOORS syndrome and Coffin-Siris syndrome. The limb anomalies seen in DDOD syndrome can also be found in several other entities including Zimmermann-Laband syndrome, Adams-Oliver syndrome, Temple-Baraitser syndrome and Fontaine Progeroid Syndrome. Antenatal diagnosis Prenatal diagnosis of DDOD syndrome has not been performed to date. Genetic counseling DDOD syndrome is inherited autosomal dominantly so if the clinical diagnosis has been established reliably, genetic counseling is possible.
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Dent's Disease
Wikipedia
Dent's disease Nephron of the kidney without juxtaglomerular apparatus Specialty Urology Dent's disease (or Dent disease ) is a rare X-linked recessive inherited condition that affects the proximal renal tubules [1] of the kidney . It is one cause of Fanconi syndrome , and is characterized by tubular proteinuria , excess calcium in the urine , formation of calcium kidney stones , nephrocalcinosis , and chronic kidney failure . ... The identification of additional CLCN5 mutations may help in these studies. [8] Dent disease 2 [ edit ] Dent disease 2 (nephrolithiasis type 2) is associated with the OCRL gene. [9] [10] Both Lowe syndrome ( oculocerebrorenal syndrome ) and Dent disease can be caused by truncating or missense mutations in OCRL . ... "Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive kidney failure and a marked male predominance" . ... PMID 14169453 . ^ "Professor Oliver Wrong (1924 - 2012)" . [ permanent dead link ] External links [ edit ] Genetic Hypercalciuria Dent disease on Orphanet Classification D ICD - 10 : N39.8 OMIM : 300009 MeSH : D057973 DiseasesDB : 29911 External resources GeneReviews : Dent Disease 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 Congenital malformations and deformations of urinary system Abdominal Kidney Renal agenesis / Potter sequence , Papillorenal syndrome cystic Polycystic kidney disease Meckel syndrome Multicystic dysplastic kidney Medullary sponge kidney Horseshoe kidney Renal ectopia Nephronophthisis Supernumerary kidney Pelvic kidney Dent's disease Alport syndrome Ureter Ectopic ureter Megaureter Duplicated ureter Pelvic Bladder Bladder exstrophy Urethra Epispadias Hypospadias Posterior urethral valves Penoscrotal transposition Vestigial Urachus Urachal cyst Urachal fistula Urachal sinus v t e Diseases of ion channels Calcium channel Voltage-gated CACNA1A Familial hemiplegic migraine 1 Episodic ataxia 2 Spinocerebellar ataxia type-6 CACNA1C Timothy syndrome Brugada syndrome 3 Long QT syndrome 8 CACNA1F Ocular albinism 2 CSNB2A CACNA1S Hypokalemic periodic paralysis 1 Thyrotoxic periodic paralysis 1 CACNB2 Brugada syndrome 4 Ligand gated RYR1 Malignant hyperthermia Central core disease RYR2 CPVT1 ARVD2 Sodium channel Voltage-gated SCN1A Familial hemiplegic migraine 3 GEFS+ 2 Febrile seizure 3A SCN1B Brugada syndrome 6 GEFS+ 1 SCN4A Hypokalemic periodic paralysis 2 Hyperkalemic periodic paralysis Paramyotonia congenita Potassium-aggravated myotonia SCN4B Long QT syndrome 10 SCN5A Brugada syndrome 1 Long QT syndrome 3 SCN9A Erythromelalgia Febrile seizure 3B Paroxysmal extreme pain disorder Congenital insensitivity to pain Constitutively active SCNN1B / SCNN1G Liddle's syndrome SCNN1A / SCNN1B / SCNN1G Pseudohypoaldosteronism 1AR Potassium channel Voltage-gated KCNA1 Episodic ataxia 1 KCNA5 Familial atrial fibrillation 7 KCNC3 Spinocerebellar ataxia type-13 KCNE1 Jervell and Lange-Nielsen syndrome Long QT syndrome 5 KCNE2 Long QT syndrome 6 KCNE3 Brugada syndrome 5 KCNH2 Short QT syndrome KCNQ1 Jervell and Lange-Nielsen syndrome Romano–Ward syndrome Short QT syndrome Long QT syndrome 1 Familial atrial fibrillation 3 KCNQ2 BFNS1 Inward-rectifier KCNJ1 Bartter syndrome 2 KCNJ2 Andersen–Tawil syndrome Long QT syndrome 7 Short QT syndrome KCNJ11 TNDM3 KCNJ18 Thyrotoxic periodic paralysis 2 Chloride channel CFTR Cystic fibrosis Congenital absence of the vas deferens CLCN1 Thomsen disease Myotonia congenita CLCN5 Dent's disease CLCN7 Osteopetrosis A2, B4 BEST1 Vitelliform macular dystrophy CLCNKB Bartter syndrome 3 TRP channel TRPC6 FSGS2 TRPML1 Mucolipidosis type IV Connexin GJA1 Oculodentodigital dysplasia Hallermann–Streiff syndrome Hypoplastic left heart syndrome GJB1 Charcot–Marie–Tooth disease X1 GJB2 Keratitis–ichthyosis–deafness syndrome Ichthyosis hystrix Bart–Pumphrey syndrome Vohwinkel syndrome ) GJB3 / GJB4 Erythrokeratodermia variabilis Progressive symmetric erythrokeratodermia GJB6 Clouston's hidrotic ectodermal dysplasia Porin AQP2 Nephrogenic diabetes insipidus 2 See also: ion channels
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Restrictive Dermopathy
Wikipedia
Restrictive dermopathy Other names Hyperkeratosis-contracture syndrome, Lethal restrictive dermopathy Restrictive dermopathy is inherited in an autosomal recessive manner [1] Specialty Medical genetics Restrictive dermopathy (RD) is a rare, lethal autosomal recessive skin condition characterized by syndromic facies , tight skin, sparse or absent eyelashes, and secondary joint changes. [2] : 563 Contents 1 Mechanism 2 Diagnosis 3 Treatment 4 See also 5 References 6 External links Mechanism [ edit ] Restrictive dermopathy (RD) is caused either by the loss of the gene ZMPSTE24 , which encodes a protein responsible for the cleavage of farnesylated prelamin A into mature non-farnesylated lamin , or by a mutation in the LMNA gene. This results in the accumulation of farnesyl-prelamin A at the nuclear membrane. [3] Mechanistically, restrictive dermopathy is somewhat similar to Hutchinson–Gilford progeria syndrome (HGPS), a disease where the last step in lamin processing is hindered by a mutation that causes the loss of the ZMPSTE24 cleavage site in the lamin A gene. [ citation needed ] Diagnosis [ edit ] This section is empty. ... "Prelamin A farnesylation and progeroid syndromes" . J. Biol. Chem . 281 (52): 39741–39745. doi : 10.1074/jbc.R600033200 . ... External links [ edit ] Classification D ICD - 10 : Q82.8 OMIM : 275210 MeSH : C536920 C536920, C536920 DiseasesDB : 32974 External resources Orphanet : 1662 v t e Progeroid syndromes DNA repair RecQ-associated Werner syndrome Bloom syndrome Rothmund–Thomson syndrome NER protein-associated Cockayne syndrome Xeroderma pigmentosum Trichothiodystrophy Lamin A/C Hutchinson–Gilford progeria syndrome Restrictive dermopathy Other/related disorders Li–Fraumeni syndrome Rapadilino syndrome Baller–Gerold syndrome DeSanctis–Cacchione syndrome Nijmegen breakage syndrome Fanconi anemia Dyskeratosis congenita Ataxia telangiectasia De Barsy syndrome PIBI(D)S syndrome BIDS syndrome Marfanoid–progeroid–lipodystrophy syndrome See also: DNA replication and repair-deficiency disorder
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Li-Fraumeni Syndrome
Medlineplus
Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome. A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. ... Causes Li-Fraumeni syndrome is associated with mutations in the TP53 gene. Nearly three-quarters of families with Li-Fraumeni syndrome and about one-quarter with Li-Fraumeni-like syndrome have germline mutations in the TP53 gene. ... A few families with cancers characteristic of Li-Fraumeni syndrome and Li-Fraumeni-like syndrome do not have TP53 mutations. ... Most people with Li-Fraumeni syndrome inherit an altered copy of the gene from an affected parent .
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Robinow-Sorauf Syndrome
Omim
A number sign (#) is used with this entry because Robinow-Sorauf syndrome is caused by heterozygous mutation in the TWIST gene (601622.0009). ... Clinical Features Carter et al. (1982) and Young and Harper (1982) described a distinct acrocephalosyndactyly syndrome that the first group of authors suggested be called the Robinow-Sorauf syndrome in recognition of the priority of description by those authors (Robinow and Sorauf, 1975). ... The syndrome was considered distinct from the Pfeiffer syndrome (101600) in which the facies more nearly resembles Crouzon syndrome (123500) and in which the proximal phalanx of the big toe (and often of the thumb) is abnormal. ... Reardon and Winter (1994) reviewed observations leading them to suggest that it is 'unlikely that there is continued justification' for affording the Robinow-Sorauf syndrome an entry separate from that for Saethre-Chotzen syndrome. ... Cai et al. (2003) stated that the reported 'Robinow-Sorauf' families are examples of variable expression of the TWIST mutant phenotype and provide further proof that the 'Robinow-Sorauf' syndrome lies within the spectrum of the SCS syndrome.
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Tar Melanosis
Wikipedia
ISBN 0-7216-2921-0 . v t e Pigmentation disorders / Dyschromia Hypo- / leucism Loss of melanocytes Vitiligo Quadrichrome vitiligo Vitiligo ponctué Syndromic Alezzandrini syndrome Vogt–Koyanagi–Harada syndrome Melanocyte development Piebaldism Waardenburg syndrome Tietz syndrome Loss of melanin / amelanism Albinism Oculocutaneous albinism Ocular albinism Melanosome transfer Hermansky–Pudlak syndrome Chédiak–Higashi syndrome Griscelli syndrome Elejalde syndrome Griscelli syndrome type 2 Griscelli syndrome type 3 Other Cross syndrome ABCD syndrome Albinism–deafness syndrome Idiopathic guttate hypomelanosis Phylloid hypomelanosis Progressive macular hypomelanosis Leukoderma w/o hypomelanosis Vasospastic macule Woronoff's ring Nevus anemicus Ungrouped Nevus depigmentosus Postinflammatory hypopigmentation Pityriasis alba Vagabond's leukomelanoderma Yemenite deaf-blind hypopigmentation syndrome Wende–Bauckus syndrome Hyper- Melanin / Melanosis / Melanism Reticulated Dermatopathia pigmentosa reticularis Pigmentatio reticularis faciei et colli Reticulate acropigmentation of Kitamura Reticular pigmented anomaly of the flexures Naegeli–Franceschetti–Jadassohn syndrome Dyskeratosis congenita X-linked reticulate pigmentary disorder Galli–Galli disease Revesz syndrome Diffuse/ circumscribed Lentigo / Lentiginosis : Lentigo simplex Liver spot Centrofacial lentiginosis Generalized lentiginosis Inherited patterned lentiginosis in black persons Ink spot lentigo Lentigo maligna Mucosal lentigines Partial unilateral lentiginosis PUVA lentigines Melasma Erythema dyschromicum perstans Lichen planus pigmentosus Café au lait spot Poikiloderma ( Poikiloderma of Civatte Poikiloderma vasculare atrophicans ) Riehl melanosis Linear Incontinentia pigmenti Scratch dermatitis Shiitake mushroom dermatitis Other/ ungrouped Acanthosis nigricans Freckle Familial progressive hyperpigmentation Pallister–Killian syndrome Periorbital hyperpigmentation Photoleukomelanodermatitis of Kobori Postinflammatory hyperpigmentation Transient neonatal pustular melanosis Other pigments Iron Hemochromatosis Iron metallic discoloration Pigmented purpuric dermatosis Schamberg disease Majocchi's disease Gougerot–Blum syndrome Doucas and Kapetanakis pigmented purpura / Eczematid-like purpura of Doucas and Kapetanakis Lichen aureus Angioma serpiginosum Hemosiderin hyperpigmentation Other metals Argyria Chrysiasis Arsenic poisoning Lead poisoning Titanium metallic discoloration Other Carotenosis Tar melanosis Dyschromia Dyschromatosis symmetrica hereditaria Dyschromatosis universalis hereditaria See also Skin color Skin whitening Tanning Sunless Tattoo removal Depigmentation This cutaneous condition article is a stub .
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Vitiligo Ponctué
Wikipedia
ISBN 1-4160-2999-0 . v t e Pigmentation disorders / Dyschromia Hypo- / leucism Loss of melanocytes Vitiligo Quadrichrome vitiligo Vitiligo ponctué Syndromic Alezzandrini syndrome Vogt–Koyanagi–Harada syndrome Melanocyte development Piebaldism Waardenburg syndrome Tietz syndrome Loss of melanin / amelanism Albinism Oculocutaneous albinism Ocular albinism Melanosome transfer Hermansky–Pudlak syndrome Chédiak–Higashi syndrome Griscelli syndrome Elejalde syndrome Griscelli syndrome type 2 Griscelli syndrome type 3 Other Cross syndrome ABCD syndrome Albinism–deafness syndrome Idiopathic guttate hypomelanosis Phylloid hypomelanosis Progressive macular hypomelanosis Leukoderma w/o hypomelanosis Vasospastic macule Woronoff's ring Nevus anemicus Ungrouped Nevus depigmentosus Postinflammatory hypopigmentation Pityriasis alba Vagabond's leukomelanoderma Yemenite deaf-blind hypopigmentation syndrome Wende–Bauckus syndrome Hyper- Melanin / Melanosis / Melanism Reticulated Dermatopathia pigmentosa reticularis Pigmentatio reticularis faciei et colli Reticulate acropigmentation of Kitamura Reticular pigmented anomaly of the flexures Naegeli–Franceschetti–Jadassohn syndrome Dyskeratosis congenita X-linked reticulate pigmentary disorder Galli–Galli disease Revesz syndrome Diffuse/ circumscribed Lentigo / Lentiginosis : Lentigo simplex Liver spot Centrofacial lentiginosis Generalized lentiginosis Inherited patterned lentiginosis in black persons Ink spot lentigo Lentigo maligna Mucosal lentigines Partial unilateral lentiginosis PUVA lentigines Melasma Erythema dyschromicum perstans Lichen planus pigmentosus Café au lait spot Poikiloderma ( Poikiloderma of Civatte Poikiloderma vasculare atrophicans ) Riehl melanosis Linear Incontinentia pigmenti Scratch dermatitis Shiitake mushroom dermatitis Other/ ungrouped Acanthosis nigricans Freckle Familial progressive hyperpigmentation Pallister–Killian syndrome Periorbital hyperpigmentation Photoleukomelanodermatitis of Kobori Postinflammatory hyperpigmentation Transient neonatal pustular melanosis Other pigments Iron Hemochromatosis Iron metallic discoloration Pigmented purpuric dermatosis Schamberg disease Majocchi's disease Gougerot–Blum syndrome Doucas and Kapetanakis pigmented purpura / Eczematid-like purpura of Doucas and Kapetanakis Lichen aureus Angioma serpiginosum Hemosiderin hyperpigmentation Other metals Argyria Chrysiasis Arsenic poisoning Lead poisoning Titanium metallic discoloration Other Carotenosis Tar melanosis Dyschromia Dyschromatosis symmetrica hereditaria Dyschromatosis universalis hereditaria See also Skin color Skin whitening Tanning Sunless Tattoo removal Depigmentation This dermatology article is a stub .
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Melanosis
Wikipedia
List of cutaneous conditions References [ edit ] ^ Melanosis at the US National Library of Medicine Medical Subject Headings (MeSH) External links [ edit ] Classification D MeSH : D008548 v t e Pigmentation disorders / Dyschromia Hypo- / leucism Loss of melanocytes Vitiligo Quadrichrome vitiligo Vitiligo ponctué Syndromic Alezzandrini syndrome Vogt–Koyanagi–Harada syndrome Melanocyte development Piebaldism Waardenburg syndrome Tietz syndrome Loss of melanin / amelanism Albinism Oculocutaneous albinism Ocular albinism Melanosome transfer Hermansky–Pudlak syndrome Chédiak–Higashi syndrome Griscelli syndrome Elejalde syndrome Griscelli syndrome type 2 Griscelli syndrome type 3 Other Cross syndrome ABCD syndrome Albinism–deafness syndrome Idiopathic guttate hypomelanosis Phylloid hypomelanosis Progressive macular hypomelanosis Leukoderma w/o hypomelanosis Vasospastic macule Woronoff's ring Nevus anemicus Ungrouped Nevus depigmentosus Postinflammatory hypopigmentation Pityriasis alba Vagabond's leukomelanoderma Yemenite deaf-blind hypopigmentation syndrome Wende–Bauckus syndrome Hyper- Melanin / Melanosis / Melanism Reticulated Dermatopathia pigmentosa reticularis Pigmentatio reticularis faciei et colli Reticulate acropigmentation of Kitamura Reticular pigmented anomaly of the flexures Naegeli–Franceschetti–Jadassohn syndrome Dyskeratosis congenita X-linked reticulate pigmentary disorder Galli–Galli disease Revesz syndrome Diffuse/ circumscribed Lentigo / Lentiginosis : Lentigo simplex Liver spot Centrofacial lentiginosis Generalized lentiginosis Inherited patterned lentiginosis in black persons Ink spot lentigo Lentigo maligna Mucosal lentigines Partial unilateral lentiginosis PUVA lentigines Melasma Erythema dyschromicum perstans Lichen planus pigmentosus Café au lait spot Poikiloderma ( Poikiloderma of Civatte Poikiloderma vasculare atrophicans ) Riehl melanosis Linear Incontinentia pigmenti Scratch dermatitis Shiitake mushroom dermatitis Other/ ungrouped Acanthosis nigricans Freckle Familial progressive hyperpigmentation Pallister–Killian syndrome Periorbital hyperpigmentation Photoleukomelanodermatitis of Kobori Postinflammatory hyperpigmentation Transient neonatal pustular melanosis Other pigments Iron Hemochromatosis Iron metallic discoloration Pigmented purpuric dermatosis Schamberg disease Majocchi's disease Gougerot–Blum syndrome Doucas and Kapetanakis pigmented purpura / Eczematid-like purpura of Doucas and Kapetanakis Lichen aureus Angioma serpiginosum Hemosiderin hyperpigmentation Other metals Argyria Chrysiasis Arsenic poisoning Lead poisoning Titanium metallic discoloration Other Carotenosis Tar melanosis Dyschromia Dyschromatosis symmetrica hereditaria Dyschromatosis universalis hereditaria See also Skin color Skin whitening Tanning Sunless Tattoo removal Depigmentation This dermatology article is a stub .
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Klinefelter Syndrome
Medlineplus
About 10 percent of boys and men with Klinefelter syndrome have autism spectrum disorder. ... Boys and men with Klinefelter syndrome have an extra copy of multiple genes on the X chromosome. ... In these individuals, the condition is described as mosaic Klinefelter syndrome (46,XY/47,XXY). It is thought that less than 10 percent of individuals with Klinefelter syndrome have the mosaic form. ... Several conditions resulting from the presence of more than one extra sex chromosome in each cell are sometimes described as variants of Klinefelter syndrome. These conditions include 48,XXXY syndrome, 48,XXYY syndrome, and 49,XXXXY syndrome. ... Mosaic Klinefelter syndrome (46,XY/47,XXY) is also not inherited.KISS1R, GNRHR, BRD2, AR, FGFR1, NR0B1, SOX2, ANOS1, PROP1, POLR3A, CHD7, LEP, FGF8, GNRH1, POLR3B, PROKR2, PROK2, NR5A1, KISS1, INSL3, LEPR, PRL, POMC, TACR3, AZF1, AMH, GH1, SHBG, LHB, PNPLA6, MECP2, MPZ, MTHFR, PMP22, SERPINA4, SERPINE1, SHOX, SRY, KLK3, XIST, TAC3, CFTR, HT, CYP19A1, DAZ1, TLR7, ESRRB, STAR, TNFSF11, PDE5A, ARHGEF7, BECN1, NR1I2, NRP1, NRP2, IKBKG, KDM5C, DLK1, FGF17, VTN, NPEPPS, RABGAP1L, IQCB1, AOC1, WDHD1, G3BP1, RNF216, LINC01569, IGSF10, CCDC141, GGN, CBLL2, PWAR1, HENMT1, MUL1, SLC52A2, GAS5, PCDH19, WDR11, ASCC1, SEMA3A, SOST, NEUROG3, PSAT1, CD274, NSMF, QPCT, LDOC1, USH2A, IL1RAPL1, JTB, EBP, TUBB3, KDM6A, RBMY1HP, UCHL1, F5, IGF1, GPER1, GK, GJA1, MSTN, FSHB, FMR1, FGF10, FGF9, FGF3, FGF2, F2R, INHA, F2, ESR2, EPO, CTLA4, CP, CD40, BRCA2, BBS1, AZGP1, AXL, STS, IL4, INHBA, TYRO3, PROS1, TRH, VAMP7, AURKC, SST, SOX9, SOAT1, SLC6A8, S100A4, AFP, RAD9A, PTHLH, PLAG1, JAK2, SERPINA1, PRKN, OTC, NFKB1, NDN, ND6, MC4R, MAOA, LHCGR, KRT18, KCNJ11, H3P40
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Schinzel Type Phocomelia
Gard
Al-Awadi-Raas-Rothschild (AARR) syndrome is a very rare genetic syndrome characterized by skeletal abnormalities . ... Females with this syndrome may have an absent uterus, and males may have undescended testes ( cryptorchidism ). ... Diagnosis of the syndrome can be made when a doctor observes signs and symptoms consistent with the syndrome. ... Al-Awadi-Raas-Rothschild syndrome is very similar to another syndrome known as Fuhrmann syndrome . The symptoms associated with Fuhrmann syndrome tend to be more mild than those associated with Al-Awadi-Raas-Rothschild syndrome.
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Gómez–lópez-Hernández Syndrome
Wikipedia
Gomez-Lopez-Hernandez syndrome Other names Craniosynostosis-alopecia-brain defect syndrome, Craniosynostosis-alopecia-brain defect syndrome A young girl showing characteristic bilateral alopecia and angled ears Gómez–López-Hernández syndrome ( GLH ) or cerebellotrigeminal-dermal dysplasia is a rare neurocutaneous ( Phakomatosis ) disorder affecting the trigeminal nerve and causing several other neural and physical abnormalities. [1] Gómez–López-Hernández syndrome has been diagnosed in only 34 people. [2] Cases of Gómez–López-Hernández syndrome may be under-reported as other diseases share the characteristics of cerebellar malformation shown in Gómez–López-Hernández syndrome. [1] [2] Gómez–López-Hernández syndrome was first characterized in 1979. [3] Contents 1 Presentation 1.1 Physical 1.2 Neurological 1.3 Behavioral 2 Causes 3 Diagnosis 4 Management 5 Prognosis 6 Epidemiology 7 Eponym 8 References 9 External links Presentation [ edit ] Physical [ edit ] Physical characteristics of the syndrome can vary and are not universal. ... "Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature". ... "Two new Brazilian patients with Gómez-López-Hernández syndrome: reviewing the expanded phenotype with molecular insights". ... "Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria". ... "GPrenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature".
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Foxg1 Syndrome
Medlineplus
FOXG1 syndrome is a condition characterized by impaired development and structural brain abnormalities. ... FOXG1 syndrome was previously described as a congenital variant of Rett syndrome, which is a similar disorder of brain development. ... Rett syndrome also involves a period of apparently normal early development that does not occur in FOXG1 syndrome. Because of these differences, physicians and researchers now usually consider FOXG1 syndrome to be distinct from Rett syndrome. ... Causes As its name suggests, FOXG1 syndrome is caused by changes involving the FOXG1 gene.
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Raine Syndrome
Wikipedia
The milder phenotypes of Raine syndrome, such as those described in Simpson’s 2007 report, suggest that Raine syndrome resulting from missense mutations may not be as lethal as the other described mutations (OMIM). ... History [ edit ] It was first characterized in 1989 in a report that was published on an infant that had been born with an unknown syndrome, that later came to be called Raine syndrome. [1] References [ edit ] ^ Raine J, Winter RM, Davey A, Tucker SM (December 1989). "Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis" . ... New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). American Journal of Medical Genetics, 43(5), 860-864. ... External links [ edit ] Classification D ICD - 10 : Q78.2 OMIM : 259775 MeSH : C535282 External resources Orphanet : 1832 v t e Osteochondrodysplasia Osteodysplasia/ / osteodystrophy Diaphysis Camurati–Engelmann disease Metaphysis Metaphyseal dysplasia Jansen's metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia Epiphysis Spondyloepiphyseal dysplasia congenita Multiple epiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Osteosclerosis Raine syndrome Osteopoikilosis Osteopetrosis Other/ungrouped FLNB Boomerang dysplasia Opsismodysplasia Polyostotic fibrous dysplasia McCune–Albright syndrome Chondrodysplasia / chondrodystrophy (including dwarfism ) Osteochondroma osteochondromatosis Hereditary multiple exostoses Chondroma / enchondroma enchondromatosis Ollier disease Maffucci syndrome Growth factor receptor FGFR2 : Antley–Bixler syndrome FGFR3 : Achondroplasia Hypochondroplasia Thanatophoric dysplasia COL2A1 collagen disease Achondrogenesis type 2 Hypochondrogenesis SLC26A2 sulfation defect Achondrogenesis type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia Chondrodysplasia punctata Rhizomelic chondrodysplasia punctata Conradi–Hünermann syndrome Other dwarfism Fibrochondrogenesis Short rib – polydactyly syndrome Majewski's polydactyly syndrome Léri–Weill dyschondrosteosis v t e Diseases of collagen , laminin and other scleroproteins Collagen disease COL1 : Osteogenesis imperfecta Ehlers–Danlos syndrome, types 1, 2, 7 COL2 : Hypochondrogenesis Achondrogenesis type 2 Stickler syndrome Marshall syndrome Spondyloepiphyseal dysplasia congenita Spondyloepimetaphyseal dysplasia, Strudwick type Kniest dysplasia (see also C2/11 ) COL3 : Ehlers–Danlos syndrome, types 3 & 4 Sack–Barabas syndrome COL4 : Alport syndrome COL5 : Ehlers–Danlos syndrome, types 1 & 2 COL6 : Bethlem myopathy Ullrich congenital muscular dystrophy COL7 : Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Bart syndrome Transient bullous dermolysis of the newborn COL8: Fuchs' dystrophy 1 COL9: Multiple epiphyseal dysplasia 2, 3, 6 COL10: Schmid metaphyseal chondrodysplasia COL11: Weissenbacher–Zweymüller syndrome Otospondylomegaepiphyseal dysplasia (see also C2/11 ) COL17: Bullous pemphigoid COL18: Knobloch syndrome Laminin Junctional epidermolysis bullosa Laryngoonychocutaneous syndrome Other Congenital stromal corneal dystrophy Raine syndrome Urbach–Wiethe disease TECTA DFNA8/12, DFNB21 see also fibrous proteins
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Weissenbacher–zweymüller Syndrome
Wikipedia
Weissenbacher–Zweymüller syndrome Autosomal recessive inheritance Specialty Medical genetics Weissenbacher–Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal chondrodysplasia , [1] is an autosomal recessive [2] congenital disorder , linked to mutations (955 gly -> glu ) in the COL11A2 gene (located on chromosomal position 6p21.3), which codes for the α 2 strand of collagen type XI. [1] [2] It is a collagenopathy, types II and XI disorder. ... "Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)". ... National Library of Medicine : https://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome ^ OSMED, Heterozygous. (2006). ... "[Gleichzeitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie.]". ... External links [ edit ] Classification D OMIM : 277610 DiseasesDB : 31966 Pierre Robin syndrome with fetal chondrodysplasia; Weissenbacher-Zweymüller syndrome at NIH 's Office of Rare Diseases v t e Diseases of collagen , laminin and other scleroproteins Collagen disease COL1 : Osteogenesis imperfecta Ehlers–Danlos syndrome, types 1, 2, 7 COL2 : Hypochondrogenesis Achondrogenesis type 2 Stickler syndrome Marshall syndrome Spondyloepiphyseal dysplasia congenita Spondyloepimetaphyseal dysplasia, Strudwick type Kniest dysplasia (see also C2/11 ) COL3 : Ehlers–Danlos syndrome, types 3 & 4 Sack–Barabas syndrome COL4 : Alport syndrome COL5 : Ehlers–Danlos syndrome, types 1 & 2 COL6 : Bethlem myopathy Ullrich congenital muscular dystrophy COL7 : Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Bart syndrome Transient bullous dermolysis of the newborn COL8: Fuchs' dystrophy 1 COL9: Multiple epiphyseal dysplasia 2, 3, 6 COL10: Schmid metaphyseal chondrodysplasia COL11: Weissenbacher–Zweymüller syndrome Otospondylomegaepiphyseal dysplasia (see also C2/11 ) COL17: Bullous pemphigoid COL18: Knobloch syndrome Laminin Junctional epidermolysis bullosa Laryngoonychocutaneous syndrome Other Congenital stromal corneal dystrophy Raine syndrome Urbach–Wiethe disease TECTA DFNA8/12, DFNB21 see also fibrous proteins
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Triple X Syndrome
Wikipedia
PMID 20459843 . ^ a b c d "47 XXX syndrome" . GARD . 16 March 2016. Archived from the original on 5 November 2016 . ... Archived from the original on 2017-09-11. ^ "Triple X syndrome" . Mayo Clinic. August 17, 2010. ... PMID 19568271 . ^ Schrander-Stumpel C (2005). "Triple-X-Syndrome or Trisomy X" (PDF) . Patient Care . 32 (6): 15–21. ... "Genetics Home Reference: Triple X syndrome" . Archived from the original on 2007-03-12 . ... External links Classification D ICD - 10 : Q97.0 MeSH : C535318 DiseasesDB : 13386 NLM (2008). Triple X syndrome Genetics Home Reference v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22