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  • Primary Familial Brain Calcification Wikipedia
    Since the appearance of calcification is age-dependent, a CT scan could be negative in a gene carrier who is younger than the age of 55. [25] Progressive neurological deterioration generally results in disability and death. [ citation needed ] History [ edit ] The disease was first noted by German pathologist Karl Theodor Fahr in 1930. [26] [27] A less common name for the condition is Chavany-Brunhes syndrome and Fritsche's syndrome, the former named after Jacques Brunhes , Jean Alfred Émile Chavany , while the later named after R. Fritsche . [28] [29] Fewer than 20 families had been reported in the literature up to 1997. [30] See also [ edit ] Primrose syndrome References [ edit ] ^ a b Eliana Marisa Ramos, PhD, Joao Oliveira, MD, PhD, Maria J Sobrido, MD, PhD, and Giovanni Coppola, MD. (1993).
    SLC20A2, PDGFRB, PDGFB, XPR1, MYORG, IBGC1, MIA2, HPT, PTH, RALGAPA1
    • Basal Ganglia Calcification, Idiopathic, 4 Omim
      A number sign (#) is used with this entry because idiopathic basal ganglia calcification-4 (IBGC4) is caused by heterozygous mutation in the PDGFRB gene (173410) on chromosome 5q32. Description Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by Nicolas et al., 2013). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600).
    • Basal Ganglia Calcification, Idiopathic, 1 Omim
      A number sign (#) is used with this entry because of evidence that idiopathic basal ganglia calcification-1 (IBGC1) is caused by heterozygous mutation in the SLC20A2 gene (158378) on chromosome 8p11. Description Familial idiopathic basal ganglia calcification is an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Patients with calcifications can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase, and parathyroid hormone are normal. The typical age at clinical onset is between 30 and 50 years (summary by Wang et al., 2012).
    • Bilateral Striopallidodentate Calcinosis Orphanet
      Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration. Epidemiology The prevalence of BSPDC is not known, however it is very rare and fewer than 200 cases have been reported. BSPDC is more common in men (male:female ratio 2:1). Clinical description BSPCD can be asymptomatic. Symptomatic forms usually manifest in the fourth decade of life, whereas calcification may be found in the second decade. Patients present with progressive movement disorders, including parkinsonism, chorea, tremor, dystonia, athetosis and orofacial dyskinesia, ataxia and neuropsychiatric disorders including difficultly with concentration and memory, personality and/or behavior changes, and dementia.
    • Basal Ganglia Calcification, Idiopathic, 5 Omim
      A number sign (#) is used with this entry because idiopathic basal ganglia calcification-5 (IBGC5) is caused by heterozygous mutation in the PDGFB gene (190040) on chromosome 22q13. Description Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by Keller et al., 2013).
    • Basal Ganglia Calcification, Idiopathic, 2 Omim
      Description Familial idiopathic basal ganglia calcification (IBGC) is characterized by bilateral basal ganglia calcification and has been associated with a variety of neurologic, cognitive, and psychiatric abnormalities. However, some affected individuals may be clinically asymptomatic (summary by Volpato et al., 2009). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600). Clinical Features Volpato et al. (2008) reported a large multigenerational Italian family from South Tyrol with IBGC. Twenty individuals over the age of 40 had positive CT scans revealing intracranial calcifications, with 14 having bilateral moderate to severe calcification of the basal ganglia, dentate nucleus, and subcortical white matter.
    • Basal Ganglia Calcification, Idiopathic, 6 Omim
      A number sign (#) is used with this entry because of evidence that idiopathic basal ganglia calcification-6 (IBGC6) is caused by heterozygous mutation in the XPR1 gene (605237) on chromosome 1q25. Description Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by Legati et al., 2015). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600).
    • Primary Familial Brain Calcification Gard
      Primary familial brain calcification (PFBC) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. The first symptoms often include clumsiness, fatigue, unsteady walking ( gait ), slow or slurred speech, difficulty swallowing (dysphagia) and dementia. Migraines and seizures frequently occur. Symptoms typically start in an individual's 30's to 40's but may begin at any age.The neuropsychiatric symptoms and movement disorders worsen over time. Mutations in the SLC20A2 , PDGFRB , and PDGFB genes have been found to cause PFBC. This condition is inherited in an autosomal dominant manner.
  • Lysosomal Storage Disease Wikipedia
    "The molecular basis of lysosomal storage diseases and their treatment". Biochem. Soc. Trans . 28 (2): 150–4. doi : 10.1042/bst0280150 .
    SLC17A5, FCGR2B, IDS, CLN3, GUSB, GRN, MCOLN1, GLB1, GLA, SI, NPC2, SMPD1, NPC1, GBAP1, IDUA, MGAM, ARSB, ARSA, GBA, OGA, AGA, GALNS, SGSH, TFEB, CTNS, NAGLU, RPS27, PPT1, MPEG1, TTK, GALC, GNPTAB, DNASE1L3, CHIT1, GAA, SNCA, MAN2B1, ASAH1, HEXA, CTSA, PSAP, MFSD8, TPP1, FUT1, CTSB, MANBA, GNPTG, NEU1, GNS, ELF3, SUMF1, ALAS2, MCOLN3, H19, LIPA, ATP13A2, OSTM1, MCOLN2, CAV2, HSPA4, PPT2, CLN8, CLCN7, XPR1, STX8, FIG4, EDIL3, GPNMB, ACP5, ARSG, ABHD6, ARSI, PCSK9, UNC13D, KCTD7, ARSK, RMDN2, TBCK, VPS11, PIK3R4, SYBU, SLC29A3, RMDN3, CLN6, SLC66A1, RMDN1, GAL, EEA1, MEFV, VEGFA, FHL3, ELF4, CTSD, COX4I1, CLCN6, CD34, CD1D, CD1B, CAPN3, VPS51, C5AR1, BTN1A1, BNIP3L, BNIP3, APP, ANGPT2, AFP, PLIN2, FBN2, MTOR, TP53, FUCA1, SSTR2, SHH, PRKAB1, PRKAA2, PRKAA1, PPARA, PLP1, PIP4K2A, ACTB, LAMP2, KCNH2, IGF2R, HYAL1, HSD17B1, HHEX, HEXB, HTT, CAPN8
  • Myeloid Sarcoma Wikipedia
    An immunohistochemical and morphologic study of 28 cases". Am. J. Surg. Pathol . 17 (10): 1011–9. doi : 10.1097/00000478-199310000-00006 .
    KMT2A, ANPEP, PTPRC, NPM1, NCAM1, MPO, DERL1, CBFB, FLT3, RUNX1, SNAP91, PICALM, MLLT10, SPN, CALM2, OGG1, CALM3, NFE2, MYH11, HLA-B, CD33, CALM1, KIT, JAK2, HOXC6, HOXC5, HOXC4, CD99
    • Myeloid Sarcoma Orphanet
      Myeloid sarcoma is a rare solid tumor of the myelogenous cells occurring in an extramedullary site. Epidemiology The exact prevalence is unknown. Clinical description The clinical presentation depends on the site of involvement. Commonly involved sites of occurrence include the subperiosteal bone structures of the skull, paranasal sinuses, sternum, ribs, vertebrae, pelvis, as well as the lymph nodes and skin. Rare sites include the pancreas, heart, brain, mouth, breast, gastrointestinal and biliary tract, prostate, urinary bladder and gynecologic tract.
  • Barraquer–simons Syndrome Wikipedia
    The median age at presentation has been about 25 years, and women have been found to present later than men (age 28 for women, age 18 for men). Sex : Analysis of the pooled data revealed female patients were affected about four times more often than males.
    LMNB2, AGL, CASR, LEP, LMNA, LMNB1, REEP1
    • Lipodystrophy, Partial, Acquired, Susceptibility To Omim
      A number sign (#) is used with this entry because of evidence that susceptibility to the development of acquired partial lipodystrophy (APLD) can be conferred in some cases by heterozygous mutation in the gene encoding the nuclear lamina protein lamin B2 (LMNB2; 150341) on chromosome 19p13. Description Acquired partial lipodystrophy is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities (summary by Misra et al., 2004). The disorder is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology. Affected individuals may have genetic susceptibility factors that require the additional presence of environmental factors or acquired disorders to be expressed (summary by Hegele et al., 2006). Most cases are sporadic, family history is negative, and females are more often affected than males (ratio, 4:1).
    • Acquired Partial Lipodystrophy Orphanet
      A rare acquired lipodystrophy characterized by bilateral, symmetrical lipoatrophy of the upper body (face, neck, arms, thorax and sometimes upper abdomen) with sparing of the lower extremities and cephalothoracic progression. The disease may be associated with low serum levels of C3 and presence of C3-nephritic factor. Epidemiology The prevalence in Europe is less than 1/100 000. There is a female predominance with a female-to-male ratio of 4:1. Clinical description Onset typically occurs during childhood or adolescence but may occur as late as the fourth or fifth decade of life. Lipoatrophy is slowly progressive, starts on the face and then extends downwards to the neck, shoulders, upper limbs and/or thorax.
    • Barraquer-Simons Syndrome Gard
      Barraquer-Simons syndrome , or acquired partial lipodystrophy , is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen. Occasionally the groin or thighs are also affected. Onset usually begins in childhood following a viral illness. It affects females more often than males. The fat loss usually has a 18 month course, but can come and go over the course of several years. Following puberty, affected women may experience a disproportionate accumulation of fat in the hips and lower limbs. Around 1 in 5 people with this syndrome develop membranoproliferative glomerulonephritis .
  • Autonomic Dysreflexia Wikipedia
    Journal of Neurotrauma . 21 (6): 817–28. doi : 10.1089/0897715041269605 .
    NGF, TNF, AGT, ANGPT2, VPS51, MTOR, REN
  • Neurodegeneration With Brain Iron Accumulation 2a Omim
    No PLA2G6 mutations were found in 11 patients with clinical evidence of INAD, including 5 in whom spheroids were reported on peripheral nerve biopsy. All 28 patients with 2 null mutations or homozygous for any mutation had early onset and rapidly progressive disease, consistent with INAD.
    PLA2G6, NAGA, TECPR2, PLB1, PANK2, PLA2G1B, YWHAZ, FA2H, SEMA6A, C19orf12, FTL, PANK1, ATP13A2, TOMM20, SNCA, PLA2G4A, NALCN
    • Pla2g6-Associated Neurodegeneration Gene_reviews
      Summary Clinical characteristics. PLA2G6 -associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD) Atypical neuroaxonal dystrophy (atypical NAD) PLA2G6 -related dystonia-parkinsonism INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade.
    • Neurodegeneration With Brain Iron Accumulation 2b Omim
      A number sign (#) is used with this entry because this form of neurodegeneration with brain iron accumulation (NBIA), referred to here as NBIA2B, is caused by homozygous or compound heterozygous mutation in the PLA2G6 gene (603604) on chromosome 22q13. See NOMENCLATURE section below. This disorder is also referred to as 'atypical neuroaxonal dystrophy' to distinguish it from the allelic disorder 'infantile neuroaxonal dystrophy,' (INAD1, NBIA2A; 256600), which shows earlier onset and a more homogeneous phenotype (Gregory et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200). Clinical Features Morgan et al. (2006) studied a consanguineous Pakistani family with NBIA with 7 affected individuals in 5 generations. Affected individuals had abnormal iron accumulation in the globus pallidus, demonstrated by T2-weighted magnetic resonance imaging (MRI).
    • Infantile Neuroaxonal Dystrophy Orphanet
      Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two. Epidemiology Prevalence is unknown, but more than 150 cases have been described, of which the majority are classic INAD. Clinical description Classic INAD usually presents between ages six months and three years with psychomotor delay and regression, delayed walking or gait disturbance. It is characterized by early truncal hypotonia progressing to tetraparesis (usually spastic but can be areflexic) and dementia.
    • Infantile Neuroaxonal Dystrophy Gard
      Infantile neuroaxonal dystrophy is a type of lipid storage disorder that mostly affects the nervous system. It has two forms, a classic form and an atypical form. The classic form is usually diagnosed in infancy or early childhood and leads to a progressive loss of vision and developmental milestones. The atypical form usually begins in early childhood, but can start as late as the teens. Infantile neuroaxonal dystrophy is caused by changes (pathogenic variants) in the PLA2G6 gene and is inherited in an autosomal recessive pattern.
    • Infantile Neuroaxonal Dystrophy Medlineplus
      Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. Eventually they lose previously acquired skills (developmental regression). In some cases, signs and symptoms of infantile neuroaxonal dystrophy first appear later in childhood or during the teenage years and progress more slowly. Children with infantile neuroaxonal dystrophy experience progressive difficulties with movement.
  • Granulomatous Mastitis Wikipedia
    Journal de gynécologie, obstétrique et biologie de la reproduction . 28 (8): 800–807. PMID 10635482 . ^ Vingerhoedt, N.
    PRL, NOD2
    • Granulomatous Lobular Mastitis Gard
      G ranulomatous lobular mastitis is a rare inflammatory disease of the breast. This disease usually affects women of child-bearing age or those who use oral contraceptive medication. It can be confused with breast cancer, so it is often misdiagnosed and proper treatment is delayed. The main symptoms include a palpable mass, skin or nipple retraction, and pain and swelling in the breast. Core needle biopsy is the recommended method for diagnosis and must be made in all cases, to rule-out breast cancer and other causes of granulomatous mastitis (such as infections (bacterial, fungal, mycobacterial ), sarcoidosis , and other systemic granulomatous diseases ).
    • Granulomatous Mastitis Orphanet
      A rare gynecologic or obstetric disease characterized by a painful, palpable breast mass with relative sparing of the subareolar regions, often associated with inflammation of the overlying skin and accompanied by axillary lymphadenopathy. It usually occurs in young parous women with a history of breast-feeding. The diagnosis of idiopathic granulomatous mastitis requires that other granulomatous lesions in the breast be excluded.
  • Allodynia Wikipedia
    "Differential regulation of AMPA receptor and GABA receptor trafficking by tumor necrosis factor-alpha" . J. Neurosci . 25 (12): 3219–28. doi : 10.1523/JNEUROSCI.4486-04.2005 .
    ADM, MAPK1, PTHLH, PTGS2, PTGS1, PTGER1, MAPK9, MAPK8, MAPK7, MAPK3, PRKCZ, AGER, PRKCG, PRKCE, PNOC, PDYN, P2RX3, OPRM1, TNFRSF11B, NTF3, RAF1, SCN10A, CCL2, SPARC, TRPV4, SLC12A5, GAL, P2RX2, SCN11A, PROKR1, MFN2, CARTPT, TRPA1, CACNA1H, TRPV1, VIP, TNF, THBD, TACR1, TAC1, SYN2, NOS2, NOS1, NGF, FOS, DRD3, CSK, CRHR1, COMT, CNR2, CNR1, CCKBR, CAMK2A, CALCA, CACNA2D1, BDKRB2, BDKRB1, AVP, ALOX5, ALOX12, AIF1, AGT, EDN1, GDNF, MPZ, GFAP, MMP3, MC1R, KNG1, ITGA2, INSR, IL10, CXCL8, IL6, IL1RN, IL1B, IL1A, IGF1, HTR2A, HOXD1, HMGB1, GRIN2B, GRIN1, PROK2
  • Leydig Cell Hypoplasia Wikipedia
    Pediatric Endocrinology Reviews : Per . 4 (1): 28–31. PMID 17021580 . ^ Amesse, Lawrence S. & Pfaff-Amesse, Teresa (2007).
    LHCGR, FSHR, LGR6
    • Leydig Cell Hypoplasia Gard
      Leydig cell hypoplasia (LCH) is a disorder that impairs male sexual development . It causes incomplete development of Leydig cells, which are cells in the testicles (testes) that secrete male sex hormones (androgens). These hormones are needed for normal male sexual development as reproductive organs are forming (before birth), as well as during puberty. A genetic male with LCH has typical male chromosomes ( 46, XY ), but due to low androgen levels, may have a range of genital differences. In a genetic male with LCH, the external genitalia may not look clearly male or female ( ambiguous genitalia ).
    • Leydig Cell Hypoplasia, Type I Omim
      A number sign (#) is used with this entry because Leydig cell hypoplasia (LCH) types I and II, as well as luteinizing hormone resistance in females, are caused by inactivating mutations in the luteinizing hormone/choriogonadotropin receptor gene (LHCGR; 152790). Description Leydig cell hypoplasia is an autosomal recessive disorder in which loss of function of the LHCGR gene in the male prevents normal sexual development. Two types of LCH have been defined (Toledo, 1992). Type I, a severe form caused by complete inactivation of LHCGR, is characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics. Type II, a milder form caused by partial inactivation of the gene, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias. Females with inactivating mutations in the LHCGR gene display a mild phenotype characterized by defective follicular development and ovulation, amenorrhea, and infertility (review by Themmen and Huhtaniemi, 2000).
    • Leydig Cell Hypoplasia Orphanet
      A rare, 46,XY disorder of sex development due to impaired androgen production characterized by impaired normal male sexual development. The severity of the disorder varies and can manifest in its severe form with complete 46,XY male pseudohermaphroditism, including low testosterone and high luteinizing hormone levels, absent development of secondary male sex characteristics and lack of breast development. Patients with the milder form can have a wider range of phenotypes, ranging from micropenis to severe hypospadias.
  • Ehlers-Danlos Syndrome, Classic-Like Omim
    Mild myopathic features were seen on muscle biopsy of 5 (28%) of 18 patients. Patients with the hypermobility type EDS caused by TNXB haploinsufficiency were least affected.
    TNXB, CYP21A2
    • Classical-Like Ehlers-Danlos Syndrome Gard
      Classical-like Ehlers-Danlos syndrome (EDS due to tenascin-X (TNX) deficiency) is a form of Ehlers Danlos Syndrome (EDS) characterized by an unusually large range of joint movement (hypermobility), skin that is soft, stretchy, and fragile and easy bruising. Other signs and symptoms might include: muscle weakness and wasting (atrophy), and protrusion of part of the stomach through the diaphragm in the chest cavity ( hiatal hernia ). Classical-like EDS is caused by mutations in both copies of the TNXB gene and is inherited in an autosomal recessive manner; however, some individuals with a mutation in only one copy of the TNXB gene can have symptoms similar to EDS hypermobility type including joint hypermobility and soft skin. These individuals do not typically have easy bruising and stretchy skin. Some individuals with classical-like EDS can have larger deletions of genetic material including other genes.
    • Classical-Like Ehlers-Danlos Syndrome Type 1 Orphanet
      A form of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogeric skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.
  • Soft-Tissue Sarcoma Wikipedia
    . ^ "Soft tissue sarcoma statistics" . Cancer Research UK . Retrieved 28 October 2014 . ^ "The scars of the Superstars" .
    TP53, SMARCA4, PIK3CA, CIC, MDM2, HRAS, PAX3, MDM4, TNF, RB1, CSF2, SOX2, NF1, MCL1, FLT4, JUN, MAML3, IFNG, ZNF667-AS1, PRAME, GSTP1, EWSR1, KIT, PDGFRA, CDKN2A, MLH1, PMS2, WT1, WRN, IL6, ATM, CHEK2, GNAS, SS18, DICER1, TBC1D9, CTNNB1, SYT1, FOXO1, CDK4, SMARCB1, PTEN, RAF1, SSX2, GDF5, ERBB2, SDHA, SDHB, SDHC, EGFR, ABCB1, CD274, BMPR1B, KRAS, DUX4, AKT1, MET, ALK, IGF1R, IGF1, C11orf65, CCNB3, CCND1, VEGFA, FUS, BCOR, BRAF, FLI1, HIF1A, YAP1, SSX2B, MYC, IGF2, ZHX2, ATF1, ERG, BCL2, KDR, SMUG1, PIK3CG, GLI1, PIK3CD, CD248, PIK3CB, BRCA2, CRP, DDIT3, CDKN1A, BRCA1, CD44, FN1, MSH2, MUC4, CD99, H3-3A, EGF, TFE3, NTRK1, RET, NFATC2, H3-3B, H3P10, PARP1, YWHAE, PATZ1, CD34, ETV4, PDCD1, PDGFB, MTOR, TSPAN31, MIR182, NRAS, DES, STAT3, CTAG1A, JAZF1, CAV1, NKX2-2, PTGS2, CD6, ASPSCR1, FOLH1, PROM1, EZR, VEGFC, PAX7, NANS, LAG3, SERPINE1, CTAG1B, COL1A1, TLE1, TERT, RASSF1, MYOG, PLIN1, NUTM1, FGFR4, NME1, HGF, UVRAG, VIM, CSF1R, STS, EZH2, LOC110806263, MAPK14, HTC2, COL18A1, CKAP4, MAPK1, MAP2K7, ANO1, RPE65, ESR1, TNFSF10, SRC, STMN1, TAF15, MGMT, CDKN2B, ALDH1A1, TAZ, TP63, FOXP1, SLC12A9, HBEGF, PDGFRB, MME, ATRX, ITGAM, MMP9, MRC1, S100B, S100A1, LINC01194, FLII, ZNF395, NOS2, CCN3, VGLL3, CREB3L2, KMT2A, PERCC1, KRT7, KLRC4-KLRK1, RPL17-C18orf32, MEF2A, NUTM2A, MIR622, MITF, MIR206, MMP1, NFE2L2, ABCC1, LIN28B, MSH3, MST1R, MTAP, MYCN, MYOD1, CREB3L1, NCAM1, NPM1, TYMS, EGLN1, SNCA, RPL17, ABL1, MBD2, SAI1, CCL2, BCL10, BANF1, TNFRSF10B, SKI, SMARCA1, LGR5, CAVIN2, RNASE3, SPP1, SSX1, NR4A3, CXCR4, AURKA, XPO1, ZEB1, TEK, TGFB1, TGFBR3, THY1, LATS1, RELA, ROR1, TACC3, SERPINA5, PCNA, MAGEC2, PECAM1, LATS2, PART1, KLRK1, OGA, TRIO, PLAU, PLOD2, POU5F1, HDAC9, PTPA, PPP2R5E, MAPK3, MAP2K1, PTK2, PVT1, RAD51, TSPAN1, RAG2, SPATA2, RANBP2, NCOA2, S100A4, CSPG4, DMD, ALB, FOS, IL4, F3, FLT1, IL2, CASP8, FOXM1, CLDN4, CMD1B, ETV6, FAP, DHCR24, FGFR1, ANPEP, FGF2, COL11A2, HSP90AA1, IDH1, APC, CRK, FLT3, GADD45A, GABPA, CDKN1B, EPHB2, CD68, CA9, PLIN2, ERCC2, ERCC1, CD82, ERCC5, C3CER1, POT1, SH2B1, KDM1A, RNF19A, CAMP, ZNF281, CBL, SUZ12, CASR, MGA, CRTC1, CASP3, LPAR3, MAPK8IP2, CASP9, SIRT1, POLDIP2, TARDBP, HEY1, CAPN6, KCNJ4, CALM3, ATRAID, PIWIL2, BTC, LAMTOR1, PTTG1IP, FEV, UGT1A1, KRT20, MOV10L1, CALB2, FGFRL1, TPPP3, GDE1, ISYNA1, CALD1, KLF3, CYFIP2, GP6, PHF11, TMED7, FOXP3, F11R, OBP2A, CALM1, NXT1, DROSHA, SIRT2, POLM, TNFRSF21, B3GAT1, CALM2, EML4, TUSC2, ATF6, GDF15, CLOCK, TCL1B, RGS6, ESPL1, SART3, CD28, HDAC4, PCLAF, KEAP1, MS4A1, MELK, RUSC2, NR1I3, CCS, CD14, EEF1E1, NAPSA, ADGRG2, ABCG2, ENDOU, CD63, CD47, GPRC5A, USP6, CD40, P2RX6, AURKB, PIWIL1, COPB2, KLF4, CD163, SLIT2, GRAP2, KCNK6, G3BP1, ZNF197, MMRN1, LYVE1, OS9, CCNE1, SLC27A5, TDRKH, CNMD, TOPBP1, ZWINT, CCND3, CCND2, DUSP12, FBXW7, CBX3, CHSY1, KRIT1, CCK, SUB1, HPSE, TRIM13, PLK2, TUBB3, MYL9, NDC80, CD247, CD3E, CD3D, CIB2, CIB1, ZNRD2, MRPL28, AHSA1, MYL12A, DCTN6, CD1D, NES, ZNF654, CMAS, LARP6, MIR127, ABCB5, C16orf96, TICAM2, GSTK1, XIAP, ANXA5, MIR130B, CHAMP1, MIR145, MIR149, ANGPT1, MIR210, MIR221, MIR222, FAM83H, MRGPRX1, MIR30C2, DDX53, SIK1, TTL, IRX2, AMOT, AQP5, OXER1, FLCN, BIRC5, RPSAP52, AQP1, GPRC6A, FAS, RICTOR, CASC2, MIR30C1, MIR34B, IMPACT, LINC02210-CRHR1, TMED7-TICAM2, MIR761, ADARB1, PSC, H3P12, SIK1B, ACTB, ACAN, MTCO2P12, ERVK-32, ABL2, MXLPO, H3P9, H3P23, MIR1226, OS4, EIF2AK4, POU5F1P4, VN1R17P, GPR166P, MIR133B, MIR370, MIR375, POU5F1P3, CXADRP1, KLLN, PRB2, AMHR2, AMFR, NUTM2D, CCR2, AHR, PRIMA1, AMER1, CD109, SMURF2, ANKRD36B, CCAR2, PRUNE1, LGR6, ERVK-6, DCLRE1C, ATR, MRTFB, PINK1, C11orf95, ARSF, FSD1, CORO7, LIN28A, MIB1, AHRR, GPR151, KCMF1, ZNF331, BATF3, BPI, DEPDC1, DEPDC1B, FOXL2, PRDM10, ODF2L, BMI1, ACKR3, AZGP1, SLURP1, ABHD6, SCYL1, CAMKMT, GRHL2, PPP1R2C, EXOSC6, MYL12B, NACC1, ARAP1, MRGPRX3, MRGPRX4, ANTXR2, PRAP1, PDCD1LG2, PIK3AP1, TPPP2, RBM45, LRRC15, SLCO6A1, AFAP1L1, MUC16, HAUS8, NAPRT, ATP23, RND3, IL33, ARHGAP1, NKD2, RITA1, MAML2, MINDY4, ABRAXAS1, FSD1L, PARP9, ZFP91, ARR3, MPIG6B, PER2, BAP1, CDH11, PHF1, FRZB, ENPP2, FPR1, PGF, PGR, FOSB, SERPINB9, GAB1, MLANA, PLAGL1, PLAUR, PLD2, PLG, FHIT, FSHR, PDGFA, ESD, OPRM1, NPY1R, GPC3, GHRHR, NTRK3, GH1, ROR2, P4HB, GABRG2, PEBP1, GFAP, GCG, PAX5, GATA3, GAS6, GPC5, POU4F1, PPARG, EXTL3, PTX3, PVR, FABP3, RAC1, RAD51B, F2R, RARA, PPP1R1A, RASA1, ETV5, RBL2, RBP1, ESRRB, REST, PTPRG, PTPRC, PTPN11, ACSL3, ACSL4, PSMD9, PSMD4, FAU, FCGR3A, MAPK8, FCGR3B, FER, PRKDC, PRKAR1A, PRF1, FES, FGF1, GCLC, NPAS2, GLUL, CXCR2, MCM3, MDK, ING1, ILK, IL15, IL10, IL3RA, MMP8, MKI67, IL2RG, FOXO4, RBPJ, IGFBP7, MMP2, MCM2, ING2, MCAM, MAPT, MAGEA3, SMAD4, MAD2L1, LSS, LOX, LMNA, LGALS1, LEP, LCP1, LCK, CXCL10, ITGB3, JAK2, MMP3, IGFBP3, GSK3B, HIC1, MYL2, HSPB1, HNRNPM, HPRT1, HK2, NFATC1, HDGF, MMP11, NFKBIA, NGFR, H2AX, NMB, MSH6, NOS1, IRF8, MYCL, ID2, MXI1, MUC6, MUC1, MTTP, MTHFR, COX2, IDH2, IFI27, MST1, IFNA1, IFNA13, IGFALS, IGFBP2, MMP14, ESR2, ROM1, CDK2, UQCRH, TWIST1, TYK2, CPE, TYRO3, UBE2I, NR1H2, MAP3K8, TTF1, COMP, COL9A3, COL9A2, VIP, VIPR1, WEE1, HIRA, TSG101, ROS1, TLN1, CSF2RA, THBD, THBS1, THBS2, CSF1, TIA1, TM7SF2, TSC2, CRHR1, TOP2A, CREB1, TPM3, TPM4, HSP90B1, WNT1, COL9A1, ABCC2, CUL4A, ARID1A, AXIN1, KIF22, FZD4, ULK1, CDKN2C, CDKN1C, XPA, PLPP2, DYNLL1, IRS2, ABCC3, CDK9, FBP2, CEL, CFL1, HMGA2, SLC25A16, CHEK1, KAT6A, TFPI2, FZD3, MAFK, AIMP2, SCG2, CLU, PAX8, LEPQTL1, ZAP70, CLIC1, YES1, CSF2RB, TGFA, TFPI, SRSF1, ELAVL1, SELE, SELP, SFRP1, SFRP2, SFRP4, FBXW4, FSCN1, ATN1, SLAMF1, SLC9A3, SLC12A3, DPP4, DHFR, CTTN, ENG, CX3CL1, EPAS1, SCN8A, SCN1A, CLEC11A, ATXN2, STOM, SALL2, EPHB4, S100A11, S100A10, RREB1, RRBP1, RPS6, ERN1, SNAI1, SOD1, CSF3, TAF12, STK3, STK4, CXADR, SYN1, CUX1, ADAM17, CTLA4, SOD2, CCN2, TCF21, VPS72, PPP1R11, CSK, TFAP2A, STAT6, STAT5B, STAT5A, CYP3A4, STAT1, DAXX, BRINP1, DCN, SSTR2, SST, DCTN1, SPG7, SP3, SP1, SOX10, SOX9, TIMM8A, AADAC
    • Soft Tissue Sarcoma Mayo_clinic
      Overview Soft tissue sarcoma is a rare type of cancer that starts as a growth of cells in the body's soft tissues. The soft tissues connect, support and surround other body structures. Soft tissues include muscle, fat, blood vessels, nerves, tendons and linings of the joints. Soft tissue sarcoma can happen anywhere in the body. It happens most often in the arms, legs and belly. More than 50 types of soft tissue sarcoma exist. Some types are more likely to affect children.
    • Sarcoma Mayo_clinic
      Overview Sarcoma is a type of cancer that can occur in various locations in your body. Sarcoma is the general term for a broad group of cancers that begin in the bones and in the soft (also called connective) tissues (soft tissue sarcoma). Soft tissue sarcoma forms in the tissues that connect, support and surround other body structures. This includes muscle, fat, blood vessels, nerves, tendons and the lining of your joints. There are more than 70 types of sarcoma. Treatment for sarcoma varies depending on sarcoma type, location and other factors.
    • Soft Tissue Sarcoma Gard
      Soft tissue sarcoma is a form of cancer that occurs due to abnormal and uncontrolled cell growth of the "soft tissues" of the body. These tissues connect, support and surround other body parts and may include muscle, fat, blood vessels, lymph vessels , nerves, tendons and the lining of joints. Many people with early soft tissue sarcoma have no signs or symptoms of the condition. When present, symptoms depend on the location and size of the tumor but may include a palpable lump under the skin, pain, or difficulty breathing. Most cases occur sporadically in people with little to no family history of the condition.
  • Neural Tube Defects, Susceptibility To Omim
    The condition appeared in a man with 4 children who were all affected, and thereafter, to varying degrees, in 17 of his 28 descendants. The authors suggested autosomal dominant inheritance.
    MTHFR, PAX3, PDGFRA, VANGL2, PCMT1, CFL1, PON1, CHKA, CCL2, TXN2, PCYT1A, FGFR2, RNF2, SUZ12, MTRR, MTR, MTHFD1, BRCA1, SLC25A1, PTCH1, DLL4, FLI1, FANCL, RFWD3, FANCI, TRIM36, FANCC, SUFU, PSAT1, UBE2T, PHGDH, FANCF, HAAO, MEOX1, PTCH2, MAD2L2, LMX1B, RBM8A, BMS1, KIF22, FANCG, GDF3, FANCB, CREBBP, BRIP1, BRCA2, RAD51C, SLX4, RAD51, PALB2, FANCE, RMRP, PORCN, XRCC2, GDF6, SLC25A19, FANCM, ERCC4, FANCA, FANCD2, ZIC2, DHFR, GRHL3, FUZ, BHMT, CELSR1, TYMS, PTK7, CBS, NOS3, LEPR, NAT1, PAX1, PRCP, SLC19A1, TIMP2, CYP26A1, GRHL2, CBSL, AFP, PGPEP1, FOLR1, FOLR2, SCRIB, COMT, BMP1, ZIC1, VSIR, PKD2L1, VANGL1, ANKEF1, CD200R1, PRICKLE2, UCP2, PCSK9, TP53, SLC5A11, SLC39A4, CCDC88A, ALDH1A2, ISYNA1, TGIF1, TRIM26, FZD3, FKBP8, BHMT2, GPR161, CUBN, DVL1P1, FOXN1, ALDH1L1, MTHFD2, TNIP1, NKX2-8, NNMT, TGFB1, SOX3, GCKR, FOSB, FOS, FOLH1, FLT4, GPC5, FGF3, FAP, ERCC2, EPHA4, DVL3, DVL1, DPP4, TRDMT1, SARDH, CSF2, CRABP2, ABCC2, CD38, CASP8, CASP3, BMP4, BDNF, ARSA, APOE, APOB, APEX1, APAF1, ABO, GLI2, GNAS, UTS2R, LAMC2, SLC2A1, SKI, RFC1, PRKCB, PRKCA, NAT2, NGF, MS, CD200, MMP2, LRP6, LMNB1, LEP, JUND, HK1, JUNB, JUN, JARID2, ITPK1, IL18, IL13, IL10, HOXD@, HOXC@, HOXB@, HOXA@, HMOX1, HLA-DRB4, RN7SL263P
    • Isolated Spina Bifida Orphanet
      A group of rare neural tube defect disorders characterized by improper closure of the spinal column during embryonal development, not associated with other major congenital malformations nor ventriculomegaly. The extent of the closure defect may vary, ranging from spina bifida occulta, in which the site of the lesion is not exposed (e.g. an isolated posterior vertebral arch defect), to spina bifida aperta, in which the lesion may be conformed of proturding spinal cord and meninges (myelomeningocele) or meninges exposure only (meningocele), with or without a proturding sac at the site of the lesion, to the most severe defect which includes total exposure of the spinal cord along its full length (rachischisis). Depending on the type, size and site of the defect, severe morbidity, typically inlcuding motor, sensory and sphincter dysfunction, and mortality may be associated. Spina bifida occulta may be asymptomatic.
    • Neural Tube Defects, Folate-Sensitive Omim
      A number sign (#) is used with this entry because folate-sensitive neural tube defects (NTDFS) have been associated with variation in a number of genes involved in folate and homocysteine metabolism, including 5,10-methylenetetrahydrofolate reductase (MTHFR; 607093), methionine synthase (MTR; 156570), methionine synthase reductase (MTRR; 602568), and methylenetetrahydrofolate dehydrogenase-1 (MTHFD1; 172460). See also 182940 for a discussion of neural tube defects that are not associated with folate metabolism. See also 601775 for a description of variation of folate levels in erythrocytes. Description Neural tube defects have a birth incidence of approximately 1 in 1,000 in American Caucasians and are the second most common type of birth defect after congenital heart defects. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly (206500) (Detrait et al., 2005).
    • Neural Tube Defects, X-Linked Omim
      For a general phenotypic description and a discussion of genetic heterogeneity of neural tube defects, see 182940 and 601634. Inheritance Toriello et al. (1980) observed either anencephaly or spina bifida in 5 males in 5 different sibships spanning 4 generations genealogically connected through females. Baraitser and Burn (1984) and Toriello (1984) reported additional kindreds with pedigree patterns strongly supporting X-linked recessive inheritance. Baraitser and Burn (1984) reported a nonconsanguineous Pakistani Muslim family in which a woman had 3 brothers and 3 sons with neural tube defects, including posterior encephalocele and spina bifida cystica. Jensson et al. (1988) reported an Icelandic family in which 5 males had either anencephaly or spina bifida: 2 had spina bifida, 2 sibs had anencephaly, and 1 had both high and low spinal lesions.
    • Tethered Spinal Cord Syndrome Wikipedia
      National Institutes of Health . Retrieved 2008-08-28 . ^ a b Kokubun, S.; Ozawa, H.; Aizawa, T.; Ly, N.
    • Spina Bifida Mayo_clinic
      Overview Spina bifida is a birth defect that occurs when the spine and spinal cord don't form properly. It's a type of neural tube defect. The neural tube is the structure in a developing embryo that eventually becomes the baby's brain, spinal cord and the tissues that enclose them. Typically, the neural tube forms early in pregnancy and it closes by the 28th day after conception. In babies with spina bifida, a portion of the neural tube doesn't close or develop properly, causing problems in the spinal cord and in the bones of the spine. Spina bifida can range from mild to severe, depending on the type of defect, size, location and complications.
    • Spina Bifida Gard
      Spina bifida is a type of neural tube defect in which the neural tube (the structure in an embryo that becomes the brain and spinal cord) does not completely close during development in the womb. This may result in part of the spinal cord sticking out through an opening in the spine, leading to permanent nerve damage. Babies born with spina bifida often have a fluid-filled sac, covered by skin, on their back. This is called a meningocele . If the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele . The signs and symptoms of spina bifida can range from mild to severe, depending on the location and extent of spinal cord involvement.
    • Spina Bifida Wikipedia
      MMC is a failure of this to occur completely. [3] The meningeal membranes that cover the spinal cord also protrude through the opening, forming a sac enclosing the spinal elements, such as meninges, cerebrospinal fluid, and parts of the spinal cord and nerve roots. [28] Myelomeningocele is also associated with Arnold–Chiari malformation , necessitating a VP shunt placement. [10] Toxins and conditions associated with MMC formation include: calcium-channel blockers , carbamazepine , cytochalasins , hyperthermia , and valproic acid . [12] Myelocele [ edit ] Spina bifida with myelocele is the most severe form of myelomeningocele. ... "Executive processes for children with spina bifida". Children's Health Care . 28 (3): 241–53. doi : 10.1207/s15326888chc2803_3 . ^ Rose, BM; Holmbeck GN (2007). ... Developmental Disabilities Research Reviews . 15 (1): 28–34. doi : 10.1002/ddrr.48 . PMC 3047453 . ... PMID 23395140 . ^ Grivell, RM; Andersen, C; Dodd, JM (28 October 2014). "Prenatal versus postnatal repair procedures for spina bifida for improving infant and maternal outcomes" .
  • Mucormycosis Wikipedia
    "Orphanet: Zygomycosis" . www.orpha.net . Retrieved June 28, 2019 . ^ James, William D.; Berger, Timothy G.; et al. (2006).
    ETFA, MUC1, EGFR, TP63, HAX1, GOLPH3, CARD9, BTBD8, WG
    • Zygomycosis Orphanet
      A rare mycosis caused by ubiquitous, opportunistic fungi of the order Mucorales, characterized by tissue infarction and necrosis due to invasion of the vasculature by hyphae. The spectrum of clinical manifestations depends on the route of infection and includes rhinocerebral, pulmonary, cutaneous, gastrointestinal, renal, and disseminated forms. The disease is usually rapidly progressive and associated with high mortality.
  • Autoimmune Lymphoproliferative Syndrome Omim
    The average age of ALPS onset was 5 years, whereas the average age of lymphoma diagnosis was 28 years. The cases in which somatic alterations in FAS were described in lymphomas (e.g., Gronbaek et al., 1998) more typically arose later in life.
    FAS, FASLG, CASP10, NRAS, CASP8, PRKCD, TNFAIP3, RASGRP1, IL10, TRBV20OR9-2, KRAS, SPP1, UNC13D, IL17A, STAT3, FOXP3, B3GAT1, CTLA4, PRF1, CDR3, FADD, TIMP1, TNF, MIR21, EOMES, MIR146A, IL17F, PPIG, LSM2, BCL2L11, TNFRSF13C, KLRG1, TCF7, MMRN1, SMUG1, ADA2, KRT20, LYPLA1, ABCD1, HNF1A, TAP1, AIRE, XIAP, BCL2, CASP9, MS4A1, CD27, CD28, CD48, LRBA, CETN2, COL4A2, MTOR, HLA-A, HMMR, IFNG, IL2RA, ISG20, SH2D1A, PCNA, PIK3CD, APCS, SLC6A3, STAT5B, RN7SL263P
    • Autoimmune Lymphoproliferative Syndrome Wikipedia
      Autoimmune lymphoproliferative syndrome Other names Canale-Smith syndrome , [1] Specialty Immunology Autoimmune lymphoproliferative syndrome ( ALPS ), is a form of lymphoproliferative disorder (LPDs). It affects lymphocyte apoptosis . [2] It is a rare genetic disorder of abnormal lymphocyte survival caused by defective Fas mediated apoptosis . [3] Normally, after infectious insult, the immune system down-regulates by increasing Fas expression on activated B and T lymphocytes and Fas-ligand on activated T lymphocytes. Fas and Fas-ligand interact to trigger the caspase cascade, leading to cell apoptosis. Patients with ALPS have a defect in this apoptotic pathway, leading to chronic non-malignant lymphoproliferation, autoimmune disease, and secondary cancers. [4] Contents 1 Presentation 2 Genetics 3 Diagnosis 3.1 Diagnostic algorithm 3.2 Classification 4 Treatment 5 References 6 External links Presentation [ edit ] All people with ALPS have signs of lymphoproliferation, which makes it the most common clinical manifestation of the disease. The increased proliferation of lymphoid cells can cause the size of lymphoid organs such as the lymph nodes and spleen to increase ( lymphadenopathy and splenomegaly , present in respectively over 90% and over 80% of patients).
    • Autoimmune Lymphoproliferative Syndrome Gene_reviews
      Summary Clinical characteristics. Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age Autoimmune disease, mostly directed toward blood cells Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS ), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; in many affected individuals, however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. In ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS , severe lymphoproliferation occurs before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (α/β-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS , although lower incidence of splenectomy and lower lymphocyte counts have been reported in ALPS-sFAS and no cases of lymphoma have yet been published. Diagnosis/testing. The diagnosis of ALPS is based on the following: Clinical findings Laboratory abnormalities: Abnormal biomarker testing (soluble interleukin-10 [IL-10], Fas ligand [FasL], IL-18, and vitamin B 12 ) Defective in vitro tumor necrosis factor receptor superfamily member 6 (Fas)-mediated apoptosis T cells that express the alpha/beta T-cell receptor but lack both CD4 and CD8 (so-called "α/β-DNT cells") Identification of pathogenic variants in genes relevant for the Fas pathway of apoptosis.
    • Autoimmune Lymphoproliferative Syndrome Gard
      Autoimmune lymphoproliferative syndrome (ALPS) is a disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). This results in the overproduction of lymphocytes, which build up and cause enlargement of the lymph nodes, liver and spleen. Affected individuals have an increased risk of developing cancer of the immune system cells (lymphoma) and may be at increased risk for other cancers. They can also have a variety of autoimmune disorders , most of which damage the blood cells. Some of the autoimmune disorders associated with ALPS can also damage the kidneys, liver, eyes, nerves, or connective tissues.
    • Autoimmune Lymphoproliferative Syndrome Medlineplus
      Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation). Accumulation of excess lymphocytes results in enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly). Autoimmune disorders are also common in ALPS. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Most of the autoimmune disorders associated with ALPS target and damage blood cells .
    • Autoimmune Lymphoproliferative Syndrome Orphanet
      A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma. Epidemiology The prevalence of ALPS is unknown. It has been characterized in more than 500 patients to date and has been reported worldwide in various ethnic groups. Clinical description ALPS is clinically heterogeneous with the following primary clinical signs: lymphoproliferation, manifesting as lymphadenopathy and hepatosplenomegaly with or without hypersplenism, often improving with age, autoimmune disease, mostly involving blood cells, and an increased risk of lymphoma lifelong. Many patients develop non-malignant lymphoproliferation during the first years of life. Clinical manifestations of autoimmunity in the form of hemolytic anemia, thrombocytopenia, neutropenia, or autoimmune hepatitis are of variable severity but these signs are often absent at the time of diagnosis.
    • Autoimmune Lymphoproliferative Syndrome, Type Iii Omim
      A number sign (#) is used with this entry because autoimmune lymphoproliferative syndrome type III (ALPS3) is caused by homozygous mutation in the PRKCD gene (176977) on chromosome 3p21. Description Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013). For a general description and a discussion of genetic heterogeneity of ALPS, see 601859.
    • Autoimmune Lymphoproliferative Syndrome, Type Iia Omim
      A number sign (#) is used with this entry because autoimmune lymphoproliferative syndrome type IIA (ALPS2A) is caused by mutation in the CASP10 gene (601762). For a phenotypic description and a discussion of genetic heterogeneity of ALPS, see 601859. Clinical Features Wang et al. (1999) reported 2 unrelated patients with ALPS2A. An 11-year-old African American female presented with prominent nonmalignant adenopathy, hepatosplenomegaly, and Coombs-positive hemolytic anemia at 1 year of age. She exhibited a wide-ranging loss of immunologic self-tolerance involving hypergammaglobulinemia with multiple autoantibodies, such as anti-erythrocyte, anti-RNP (180740), anti-SM (601061), anti-SSB (109090), and rheumatoid factor as well as anti-factor VIII (300841) antibody, which caused a severe clotting disorder.
  • Kufor-Rakeb Syndrome Omim
    The findings suggested that KRS may be a type of adult-onset NCL; however, sequencing of the ATP13A2 gene in 28 patients with adult-onset NCL (Kufs disease; CLN4A, 204300) failed to reveal any variants likely to be disease-causing.
    ATP13A2, SNCA, KARS1, PLA2G1B, SLC6A3, YWHAZ, EGLN1, FA2H, PANK2, LRRK2, PLB1
    • Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis Orphanet
      A rare neuronal ceroid lipofiscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon post mortem.
    • Kufor–rakeb Syndrome Wikipedia
      Kufor–Rakeb syndrome Other names KRS Causes Mutations in the ATP13A2 gene Frequency <1:1,000,000 Kufor–Rakeb syndrome is an autosomal recessive disorder of juvenile onset also known as Parkinson disease -9 (PARK9). [1] Contents 1 Presentation 2 Genetics 3 History 4 References 5 External links Presentation [ edit ] Symptoms include supranuclear gaze palsy , spasticity and dementia . [1] Other features include atypical parkinsonism with pyramidal signs and a characteristic mini myoclonus . [ citation needed ] There is considerable variation in the phenotype. [ citation needed ] Genetics [ edit ] It is associated with mutations in the ATP13A2 gene. This gene is located on the short arm of chromosome 1 (1p36.13). [ citation needed ] Mutations in this gene have also been associated with hereditary spastic paraplegia , uncomplicated early - or late-onset parkinsonism and neuronal ceroid lipofuscinosis . [ citation needed ] History [ edit ] It is named after Kufr Rakeb in Irbid , Jordan . [ citation needed ] References [ edit ] ^ a b Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ (October 2005). "Kufor–Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia". Mov. Disord . 20 (10): 1264–71. doi : 10.1002/mds.20511 . PMID 15986421 . External links [ edit ] Classification D ICD - 10 : G23.0 OMIM : 606693 MeSH : C537177 C537177, C537177 External resources Orphanet : 306674 v t e Genetic disorder , membrane: ATPase disorders ATP1 ATP1A2 ( Alternating hemiplegia of childhood ) ATP2 ATP2A1 ( Brody myopathy ) ATP2A2 ( Darier's disease , Acrokeratosis verruciformis ) ATP2C1 ( Hailey–Hailey disease ) ATP7 ATP7A ( Menkes disease ) ATP7B ( Wilson's disease ) ATP13 ATP13A2 ( Kufor–Rakeb syndrome ) Other Osteopetrosis B1 see also ATPase This genetic disorder article is a stub .
    • Kufor-Rakeb Syndrome Orphanet
      Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.
  • Intellectual Disability Wikipedia
    Causes, such as congenital hypothyroidism, if detected early may be treated to prevent development of an intellectual disability. [28] There are thousands of agencies around the world that provide assistance for people with developmental disabilities. ... About a quarter of cases are caused by a genetic disorder . [6] Cases of unknown cause affect about 95 million people as of 2013 [update] . [8] It is more common in males and in low to middle income countries. [28] History Intellectual disability has been documented under a variety of names throughout history.
    SCN8A, SLC2A1, NAA15, PHIP, NDST1, ERLIN2, YY1, MED13L, KDM5C, GAMT, PRRT2, TRMT1, UROC1, SC5D, BDNF, SYNGAP1, PQBP1, TH, SLC6A8, MECP2, PAX6, ACBD6, SHANK3, CHD8, DYNC1H1, MYT1L, MTOR, GRIN2B, PTCHD1, DEAF1, PHF21A, DDX3X, MEIS2, CTCF, ZDHHC9, RAB39B, PTEN, KANSL1, HIVEP2, DHCR7, POGZ, RAC1, NSD1, TAF1, PACS1, ZC3H14, HNRNPU, RLIM, NF1, EIF2S3, TTI2, CDC42, HDAC4, NSUN2, ST3GAL3, TBC1D7, TMCO1, CAMK2A, GRIN1, CA2, PUS7, MED23, BCL11A, SETD2, STRA6, PYCR1, ALDH3A2, TRIO, TAF2, CHAMP1, LAS1L, GPT2, LINS1, DNMT3A, SCN1A, RORA, PMM2, RAI1, C12orf57, KCNQ5, SCN3A, METTL23, PPP2R5D, CAMK2B, SACS, GNAS, CIC, FRMPD4, DCC, UBA5, ATP8A2, FGFR2, ADSL, SERAC1, TLK2, YWHAG, GABRB2, ACTL6B, ARMC9, CCBE1, WDR26, BCKDK, PACS2, FOXG1, SCAPER, TAT, NAGLU, SET, AHI1, ZBTB24, SETBP1, SMARCC2, SLC1A4, HNRNPK, KMT2C, ASAH1, WDR62, CUX2, SIN3A, LRP2, ASH1L, ELP2, NFIA, CA8, KIF4A, KIF7, XPA, BRF1, EPB41L1, FAM126A, VRK1, PEX6, BPTF, INPP5E, PCGF2, RRM2B, PGM3, ALDH5A1, RNF125, SDCCAG8, PDHX, PIGP, RBM28, OSGEP, KIFBP, BBS7, PPP2R1A, CSTB, SLC1A2, FOLR1, NUP62, TCTN1, SYNE1, P4HTM, GTPBP2, SRD5A3, DLL1, TCN2, GNB1, DPF2, HMGB3, SURF1, BCL11B, TBCD, RARS1, GRIN2D, SPECC1L, NT5C2, TRIM8, KCNA2, FMR1, TAF6, PTS, PUS1, KLHL15, FUCA1, FUT8, SPR, STT3A, SUZ12, GALE, GALT, PURA, SOX4, RHOBTB2, CACNA1G, TSEN15, CERT1, ADRA2B, CDK10, NRXN1, PRKRA, MIR17HG, APC2, ALDH4A1, USP27X, PET100, STAG1, ENTPD1, AASS, LARGE1, CACNA1B, ARL13B, ASS1, STT3B, ASCL1, BRCA1, PUM1, SHANK2, SRGAP3, MEF2C, WAC, BRWD3, ZMYND11, WASF1, SHROOM4, PGAP2, TCF20, MAP1B, PUF60, AFF3, LARP7, SNX14, STAG2, NXF5, PUS3, LSS, MAN1B1, DLG4, NSD2, ST3GAL5, LETM1, ZMIZ1, GRIA2, CHL1, PTRHD1, H4C3, PRR12, H4C2, MED12L, LMAN2L, SOX9, CHD3, IQSEC1, KAT8, AGMO, VAMP2, RALA, DOCK8, SLC35A2, KLF8, PHACTR1, MN1, NR4A2, LAMA1, METTL5, ACTL6A, SYT1, AP4M1, TRRAP, RAB11B, ALKBH8, MAPK8IP3, NFIB, AGO1, APC, ZNF292, ALG13, DDX6, L2HGDH, TRPM3, ZBTB11, CNKSR1, CDH2, PPP1R12A, FBXL3, DISC1, SCAMP5, KDM5A, OXR1, KDM3B, WDR45B, SLC4A10, DYNC1I2, TRAPPC4, TUBA1A, ARL14EP, PPP2CA, ZNF142, EEF1B2, PITRM1, NRXN2, MFSD2A, CAPN10, NTNG2, FAM160B1, WDR4, AKAP6, ZNF462, RAC3, SUPT16H, KLF7, KDM6B, H3-4, SLC6A3, RALGAPA1, ACOT9, ATP1A1, CCDC47, ACE2, TSEN54, SLC5A6, ZNF335, BRSK2, CALCA, TAOK1, KARS1, GRIA1, GOT2, NKAP, RNASEH2B, FRY, NXF4, MED13, NUDT2, PTPN23, PISD, LGI4, TANC2, UBR7, PREPL, KMT2E, BRD4, CASP2, KIF5A, VPS53, IER3IP1, MCC, CTNNA2, HK1, ALG14, FBXW11, HMGCL, POLR3B, INPP4A, ZBTB40, ASTN1, TET3, POU3F3, PIGB, FARSB, PJA1, MACF1, FCSK, SMARCD1, TBC1D23, PECR, CACNA1E, TRAPPC6A, TSEN34, ZCCHC8, ATIC, MTF1, AP4E1, HEXA, MAB21L1, RABL6, RTTN, ZNF526, HTT, TMEM135, TFB2M, MAP7D3, ZMYM6, SETD1A, ATL1, IQSEC3, VIP, PYCR2, COQ5, TREX1, UMPS, UGP2, RNASEH2C, FASN, LNPK, FDFT1, EIF2A, RNF13, TMX2, RNASET2, TFG, AP2M1, SNX27, DIAPH1, TPP1, CDK16, CNDP1, PCYT2, SLC31A1, PCDH12, TBC1D20, KCNK4, CSDE1, MSL3, ATN1, ZMYM2, PNPT1, RNF113A, ASCC3, ACY1, E2F3, QKI, PIGU, ADK, PARP1, PDGFRB, AP1B1, RALGDS, RGS7, OR5M1, WDR37, SNX3, DHPS, GON4L, TMEM94, NTF4, CCNA2, HNRNPR, GABRA2, EIF3F, NSF, ACIN1, CDK8, RNASEH2A, RAB11A, PEX11B, PRKCG, QRICH1, GFER, NBEA, COL18A1, GTF3C3, TSEN2, ADPRS, ODC1, EIF4A3, WT1, AFF2, DLG3, OPHN1, ATRX, HUWE1, MED12, ACTB, NEXMIF, TSC2, L1CAM, TRAPPC9, NLGN4X, SOX3, IQSEC2, CDKL5, PCDH19, ADNP, ARX, FOXP1, PAK3, ARID1B, ATR, TBC1D24, GRIA3, SETD5, TUSC3, TSC1, CASK, SATB2, STS, CNTNAP2, CTNNB1, SCN2A, USP9X, CUL4B, STXBP1, UPF3B, AUTS2, UBE2A, RPS6KA3, SMS, CREBBP, KCNQ2, TBR1, TBL1XR1, MBD5, FKTN, POMT1, ACSL4, GDI1, CTNND2, ARID2, PHF6, OCRL, ANKRD11, PAH, POMT2, APP, LAMP2, HERC1, SMARCA4, BRPF1, KIF11, PHF8, SOX5, CHD2, DCX, HCFC1, THOC6, GRIN2A, H1-4, UBE3A, KIF1A, KMT2D, PAFAH1B1, PIGV, KAT6B, SMARCA2, AVPR2, SLC4A4, SZT2, KMT2A, NAA10, VPS13B, NR2F1, THOC2, MCPH1, CHD7, AIFM1, UBR1, NTRK1, FKRP, EED, FBXO11, TECR, ZBTB18, RPL10, GRM1, EHMT1, NONO, DYM, BSCL2, TCF12, DPH1, TRPS1, ASXL3, CHRNA7, C12orf4, PPM1D, SMARCB1, ARID1A, CC2D2A, EZH2, WDR45, SMC1A, IGF1, NIPBL, SON, HECW2, NLGN3, ATP1A2, ADAT3, AKT3, WWOX, EFTUD2, SLC6A1, GMPPB, NFIX, FBXO31, NHS, INPP5K, TNIK, CNNM2, DCAF17, CDK13, TWIST1, CHD4, PRMT7, SPG11, OGT, OFD1, PRSS12, FGFR3, TPO, PGAP1, ZNF711, WARS2, WDR73, EEF1A2, TRIP12, CHKB, EXT1, CBS, ASPM, PNPLA6, DAG1, SIL1, PSMD12, HERC2, HRAS, HEPACAM, SOX11, RBM8A, CXorf56, HDAC8, IGF1R, HNMT, MAOA, SNAP25, ZFYVE26, SMARCE1, FMN2, PPP1CB, SKI, KCNH1, LAMA2, POLA1, PDE4D, CYB5R3, MBOAT7, KCNK9, ELN, PIK3CA, TRMT10A, ARHGEF2, ZBTB20, AQP2, DNMT3B, ATP6AP2, HSD17B10, POMGNT1, CACNA1A, KAT6A, MID2, GNB5, ZNF148, NSDHL, GMPPA, ZNF592, PRODH, CPLX1, PEX2, RECQL4, NECTIN1, MAP2K1, MAPK1, MAPK10, AGPAT2, EMC1, TUBB3, QDPR, TBCE, EXOC6B, TCTN3, SALL1, TBX1, SYP, DDHD2, SMC3, ABCC9, WASHC4, KIF14, SPAST, AMMECR1, SOX2, DGCR2, STIL, SLC25A1, SLC1A1, PIGN, TECPR2, KANK1, SYNJ1, CRADD, KPTN, VLDLR, NTNG1, LONP1, CNKSR2, TSHR, CCDC22, SRPX2, DHX30, HNF1B, RAB3GAP1, RHO, DNAJC6, TGIF1, CYFIP2, TGFBR1, ROM1, RUSC2, KMT5B, CWF19L1, ERCC8, TENM3, COX20, NLRP3, TWNK, MAG, GLRB, TMTC3, GLI3, GLI2, GLDC, GPC3, HHAT, BRAF, VWA3B, GRIK2, GK, BBS2, BRAT1, MYCN, ASXL2, TMLHE, EBF3, ATP6V1B2, PIGW, ASL, PGAP3, SUMF1, GRIA4, CSNK2A1, TMEM240, DOCK6, SMOC1, TRAPPC11, IDUA, HNRNPH2, B3GALT6, WDR81, COX8A, AMER1, ITGB6, ITPR1, AP1S1, DIP2B, KCNB1, CPS1, HBA2, HBA1, KCNJ1, KCNJ10, CENPE, COG6, KIDINS220, GUSB, B3GALNT2, CDH15, GTF2I, LAMB2, NEU1, COL2A1, ACTG1, PC, OTX2, PIGC, PLP1, RSPRY1, LINGO1, UBE3B, PITX3, RSRC1, AKT1, PAX3, ERCC6, CLPB, RAB23, FBN1, KIAA1109, EFNB1, TDP2, EXT2, SLC26A4, PEX1, PEX7, PGK1, DPYD, MBTPS2, FLNA, B4GALNT1, GABRB3, ERCC2, CEP290, GABRA1, DPAGT1, CLN8, NPHP1, FOS, DPP6, POU1F1, MAGEL2, COLEC10, USH1G, CANT1, B4GAT1, TXNRD2, COG5, PROKR2, PIBF1, SEC23B, SPINK5, NPC2, MICOS13, SEMA3C, ATAD1, CIB2, SYT2, POMGNT2, GJB4, SLC35A1, IFT27, STRADA, USP45, MAPRE2, SRCAP, GJB6, CDHR1, BBIP1, MGME1, REEP6, TMEM67, CEP41, NACC1, FTCD, TANGO2, PLK4, PDE10A, YME1L1, SLC52A3, CERS1, PRPF8, LYRM7, DLL3, EBP, LHX4, CYP2U1, TOE1, TUBGCP6, NUS1, ALG2, GORAB, TTC8, CLP1, COX14, DISP1, SLC46A1, MRPS2, MERTK, PCARE, DHX38, KIAA0586, PTDSS1, CERKL, HCN1, TUBB2B, KIAA0753, ZFP57, EYS, RD3, FREM2, WASHC5, ARSI, SLC6A19, KY, AP5Z1, ARNT2, FAM149B1, EOGT, CAVIN1, SLC13A5, AGRN, IYD, SLC12A6, MYMK, GABBR2, GTF2IRD1, DEL11P13, RNU4ATAC, KLLN, IQCB1, PRCD, CEP57, CRPPA, RUBCN, D2HGDH, SEMA3E, CISD2, CCDC88C, ALG11, CEP104, DUOXA2, GTF2H5, IFT140, SAMD12, GDF6, SYT14, SCO2, DIS3L2, DSG4, TRAIP, RDH12, B3GLCT, PRICKLE1, PIGO, RXYLT1, ABCA7, HGSNAT, MPLKIP, RIPPLY2, CACNG2, DNAJC21, EVC2, GLYCTK, DNAJC19, TUBB4A, YAP1, TOMM40, MAD2L2, ZNF513, BBS5, MESP2, CWC27, SEMA3D, SIK1, NR2E3, HYLS1, TUBB, GPC6, USH1C, LDHD, LCA5, BBS12, TMPRSS6, SASS6, RAD50, C8orf37, ESCO2, KCTD7, SLC25A15, TOPORS, CD96, CEP120, SLC36A2, GPHN, CKAP2L, LMNB2, CEP63, CIT, SLC29A3, CENPJ, VPS11, SPATA7, WDR11, FRMD4A, NHP2, NOP10, ACER3, PRPF31, IFT172, MMACHC, YY1AP1, FANCI, PHGDH, TINF2, ATAD3A, SLC17A5, RFWD3, DARS2, FANCL, NECAP1, PARS2, TBL2, KNL1, ARL2BP, ORC6, ARHGAP31, FRRS1L, AIPL1, SLC12A5, MCOLN1, SELENON, RPGRIP1, HYMAI, SH2B1, PRPF6, RAB3GAP2, KIF15, MCCC1, FSCN2, NDUFAF3, MRAP, KLHL7, KIZ, AGGF1, MKS1, POLR3A, IMPG2, SUFU, PTRH2, DYNC2LI1, UFM1, TMEM138, UFC1, DUOX2, DACT1, CDON, SOST, MAP3K20, GMNN, WDPCP, TMEM216, TACO1, YARS2, CRBN, MLXIPL, ABHD5, SAR1B, RTEL1, RIPK4, B9D1, AHDC1, BCOR, CC2D1A, TRIT1, SLC6A20, AFF4, PDP1, TUBGCP4, COQ2, BBS9, MMADHC, UBE2T, UGT1A1, LZTFL1, DLL4, NDUFB11, DGCR8, FLVCR1, TREM2, NANS, GPR88, HACE1, ATP6V0A2, NNT, ZNF408, TRAK1, IFT74, TRIM32, FRAS1, DHDDS, CEP152, SNRNP200, TCTN2, CSPP1, ALG9, FASTKD2, ZNF423, SLC25A22, BBS10, PALB2, TAB2, ROGDI, FAT4, EFL1, CARS2, OPA3, SBDS, NUFIP2, SLITRK6, HES7, NKX6-2, IL1RAPL1, SLX4, COG8, COA8, TMEM107, PLPBP, POMK, FAR1, SLC2A10, FAM161A, ATRIP, ARL6, PNKP, BRIP1, CDCA7, DDX59, CDT1, CHSY1, TMEM231, SLC52A2, PMPCA, SLC35A3, PRDM16, CRB1, ELMO2, PIEZO2, ALX4, AGBL5, GRIP1, SLC5A7, GPR161, ETHE1, GNPTAB, ALOXE3, NLRC4, EPG5, SLC7A14, FANCM, ZSWIM6, RNF213, KIAA1549, SLC39A14, CDH23, MCCC2, XYLT1, XYLT2, FA2H, CCDC28B, KIAA0556, COLEC11, CPLANE1, PCDH15, TMEM237, ACD, PORCN, NMNAT1, ARV1, NXN, LMBR1, RPGRIP1L, SEMA4A, NEDD4L, IRF2BPL, IFIH1, ARHGEF18, POLR1C, AARS1, RAD51C, FOXE1, RAD51, FOXE3, GDNF, RAF1, CNGA1, RANBP2, CNGB1, RARB, CLTC, CLN5, CLN3, RB1, ALDH18A1, FLI1, RBBP8, CLCNKB, RBP3, PRPH2, CLCNKA, RET, FLII, RFC2, RGR, RLBP1, COL3A1, PEX5, RMRP, PRPS1, PPARG, CTSA, CRX, ITGA7, IMPDH1, PPP3CA, PPT1, PRKAR1A, CRKL, MAP2K2, PROP1, IMPA1, COL4A1, MASP1, COX15, COX10, COX7B, COX6B1, PSEN1, PSEN2, FOXI1, PSPH, PTCH1, COL13A1, FLNB, ROBO1, CNTN2, SORL1, SLC12A1, FRAXE, SLC16A1, SLC18A3, SNAI2, SMARCA1, SMO, SMPD1, SNRPB, FRG1, SNRPN, SOX10, IARS1, HTC2, HSPG2, SRP54, FTL, SSR4, STAR, CA4, ABCC8, BUB1B, VAMP1, BUB1, CAV1, SLC5A5, RBPJ, SCN4A, RP9, RP1, RP2, RPGR, RPE65, IGBP1, LYST, CHD1, CHAT, SAG, IDH3B, SCO1, LIMK1, IDH3A, CDH11, CDC6, SDHA, SDHB, SDHC, SDHD, SGSH, FRAXA, SHH, SCARB2, POR, POLG, PODXL, TRNS1, EDN3, TYMP, ECE1, DYRK1A, DVL3, MTR, DVL1, FANCE, FANCB, FANCF, TRNN, MMUT, KRT81, MVK, KRAS, MYH7, MYL2, MYO5A, KIT, MYO7A, MYO9A, FANCG, NAGA, DPYS, EDNRB, FANCD2, PLAGL1, LIG4, EXTL3, SMAD4, EVC, MAF, MAK, MAN2B1, MANBA, ERF, ERCC5, ERCC4, ERCC3, LHX1, KRT83, MC2R, LFNG, FANCA, FANCC, MMP2, MMP14, LAMB1, EP300, MOCS1, KRT86, MEGF8, NBN, DNA2, KCNJ13, PDE6G, PARN, PAX1, PAX2, PCCA, PCCB, PCNT, CHMP1A, PCYT1A, PDE6A, DDX11, PDE6D, PDE6B, NDUFB8, FGF12, PDHA1, PEPD, DBT, PEX12, PHKA2, CYP27A1, PHKG2, CYP24A1, FGFR1, CTH, FGF8, PRDX1, KCNA1, DHCR24, NDUFS2, KCNJ11, DNM1, DMD, FBP1, NEK2, NEUROD2, KCNC3, NODAL, DKC1, NOTCH1, PNP, GPC4, NPC1, NRAS, NRL, NRTN, NTRK2, ROR2, OPA1, ORC1, ORC4, OTC, BRCA2, SIX3, EYA1, RBM10, GJA8, ALX1, IFT88, AP3B2, GAN, MKKS, DGCR6, ESS2, GUCY2D, LAGE3, CLIP2, GCSH, GJB2, BUB3, COLQ, SLC6A5, ANK1, CTDP1, PRPF3, GATA6, AAAS, HADHA, HACD1, HADH, WNT5A, GJA1, XRCC2, XRCC4, GJA5, ZIC1, ZIC2, GAS1, ZBTB16, GATA1, LRAT, ACVR1, ARG1, BSND, ALMS1, HELLS, HCCS, LHX3, SHOC2, CDC45, PRPF4, USP8, DCHS1, GLUD1, GCK, GPI, GPAA1, FOXH1, MPDZ, ALX3, SUCLG1, ALOX12B, CACNA1H, HESX1, ALDOB, GNS, PROM1, GNAQ, AHSG, AHR, AHCY, GNAO1, PTCH2, JRK, PIGQ, TP63, GJB3, SLC7A7, GLB1, GCLC, GLI1, BAZ1B, GATM, GLRA1, KYNU, PLA2G6, GNPAT, PHOX2B, GUCA1B, GBE1, KCNAB2, IKBKG, AMT, GSS, AGA, WFS1, ARCN1, RERE, TRIP13, ACTA1, ATP7A, TUB, HNRNPA2B1, KDSR, BBS4, ADGRG1, ACAT1, TRH, GABRG2, TPM3, GHR, TPM2, ATP1A3, ASPA, SNAP29, FZD2, EIF2AK3, TKT, BBS1, GABRD, ALDH7A1, ATP5F1E, ATP6V1A, HPRT1, ABCA4, ATP7B, PLAA, HNRNPA1, BEST1, BCR, ARHGDIA, TCF4, PMPCB, HNF1A, ADAMTS3, BCKDHA, HNF4A, TG, VCP, KDM6A, BCS1L, CLRN1, USH2A, GGT1, ARL3, ARSA, ARSD, PIGL, TDGF1, ACTA2, GAD1, TULP1, TERT, BCKDHB, FMR1-IT1, VCX3A, ARHGEF9, FTSJ1, BANF1, ZEB2, APOE, GATAD2B, TSPAN7, TP53, ABCG2, ZC4H2, MIR137, MTHFR, AGTR2, MEHMO, MUL1, XIST, CDK5R1, AP1S2, WASF2, CNTN6, PRKN, IL6, AP4B1, CLCN4, KIRREL3, MAPT, CBLL2, DOP1B, SLC16A2, AIMP1, KMT2B, NR0B1, TNFRSF10C, UROD, EIF4E, DIO2, KCNQ3, MRX49, ENOPH1, ZNF674, MAGT1, OPN1LW, CYFIP1, TBCK, CAMTA1, XIC, BRD2, AR, PAG1, CNTN4, DNAJC12, CSNK2B, CD38, DICER1, G6PD, KDM5B, PCBP4, NPAS3, SIM2, DCR, ADGRG6, GNAI2, CBSL, CMAS, MBD2, SEMA5A, DLX1, LMX1A, KATNAL1, MID1, KCNMA1, CYP26B1, MYT1, DIPK2B, ARHGEF6, DSCAM, PIGG, H4C15, FOXL2, DLD, HOXA1, CDK5, CLIP1, IDS, GREM1, VCX, ELP4, HMGB1, EDC3, IL1RAP, DCPS, COL4A5, FXR1, ANK3, H4-16, ZNF81, RAB40AL, FRA12A, PTPA, NALCN, CACNA1D, UBR4, C9orf72, ASXL1, HSPA9, CALCR, CALR, SOD1, JMJD1C, SETD1B, RBFOX2, ZDHHC15, WDFY3, RUNX1, IDH1, H4C9, COMT, SLC9A6, AMCN, H4C14, PLA1A, H4C1, PDGFB, GRM5, CDCA5, PAK1, PIK3CB, GPD2, KCNC1, NRCAM, RBFOX1, FOXP2, NOP2, H4C13, H4C12, MRGPRF, POU3F4, H4C6, PIK3CD, JARID2, H4C8, H4C11, MED25, H4C5, PIK3CG, H4C4, FUS, TMPRSS13, TET1, FOXC1, RABEP2, FCN2, GDI2, NAA50, ELMOD3, GABRA5, ASRGL1, PPP1R2C, SRCIN1, GCHFR, USP44, GDF10, MINDY3, F9, FGF13, GARS1, FRA2A, FLT1, FOXF1, MAP1LC3B, FXR2, GARNL3, ARHGAP4, KCTD21, ATM, ASMT, CXCL17, SLC9C2, UNC80, EPHA6, FSIP1, ARHGAP1, P2RY8, AQP9, KLK3, APEX1, ANXA1, HCA1, NPAS4, NEGR1, HEPACAM2, FERD3L, ADGRB3, KIF6, BCHE, DIPK2A, ANO6, CACNA2D1, DNAJB1P1, CACNB4, ZCCHC12, SPATA5, CAMK2G, CASR, SLC25A5, AMIGO2, AMY1C, FAM183A, RN7SL263P, UPK3B, LINC00237, LOC101928437, PTLS, MRT4, PSS, ADA, POTEF, ADCYAP1, CBX3P2, HPE8, ADD3, GLRA4, ADRB2, AMY1B, DBX2, VCX3B, MIR98, MIRLET7F2, ALAS2, ALB, LOC389895, AMH, AMHR2, SLC6A17, CCL4L1, MRX82, AMY1A, SVBP, CAT, STOML3, ETS2, C12orf65, DRD2, HS6ST2, ERI1, STARD13, SCARF2, BOD1, DMPK, CAV3, DLX3, C1orf105, DLX2, G6PC3, SLC38A5, DLG2, DRD4, LMLN, RCAN1, TANC1, EEF1D, PPP1R15B, EFNB2, EGFR, EIF2S1, EMX1, EPHB2, SLC9A7, KDM2B, EPS8, ERBB4, EYA4, TMEM185A, CADPS2, SFXN1, IFT43, CMD1B, RUNX1T1, CD59, RASGEF1B, ZNF385B, PDIK1L, CDKN2A, CENPF, CHRM5, MPP7, RSS, MACROD2, CLCN5, CLIC2, CLK2, TAF8, DES, CNTF, COL1A1, MAP3K8, CPE, CRP, TWIST2, AGAP1, CSH1, CSH2, CTBP1, SLC22A12, CSMD3, DBN1, DCN, GDI2P1, MRC1, CARF, TRD, TBX3, FBXO28, TBP, TAL1, TAF13, SYN1, DMXL2, SUOX, STX3, SULT1E1, ST14, SRY, SRGAP2, SPTAN1, SPOCK1, ATP13A2, SOD2, TCOF1, CLASP2, SNRPA, TGFBR2, TPR, TPI1, P2RX2, TOP2B, MAST1, TOP2A, SORCS3, TOP1, TNR, MYO16, KDM1A, TSPAN6, TLR4, NCOA6, THRA, ARHGAP26, KIF1B, SNRPE, SRRM2, CTNNA3, SARS1, RYR2, RXRG, INTS1, RPS6, RORB, ANKRD1, RIT1, FILIP1, RENBP, RBL2, ZNF544, RBMX, UBE2S, PCLO, RASA1, LAMTOR2, GIT1, S100A9, ATXN1, CLDN14, CHD5, SLC12A3, SLC6A11, SLC6A7, SH3BP4, CADM1, GSPT2, SLC6A4, SLC1A3, SIM1, BAMBI, ITSN1, MXRA5, SRSF2, TRAPPC2, CCL4, CHMP2B, UPF2, NLGN1, TRPC5, TTR, VCY, NR1H4, REC8, HNRNPDL, KALRN, TANK, SRA1, HCN4, SH2D3A, ABCA2, EIF2S2, MCM3AP, EDIL3, ARHGEF7, NR1I2, FEM1B, BCAP31, HDAC3, PAPSS2, MFN2, TUBG1, SLC33A1, MAGED1, MAD2L1BP, PLCH2, ITM2A, MED17, NRXN3, CER1, GPR52, CYTH1, MFHAS1, SFI1, ARHGAP11A, NOG, NOLC1, TLK1, LRRC37A, TELO2, LIN7A, OLIG2, DLK1, CDK2AP2, USP7, RNPS1, SUB1, AIR, RNF112, ZNF41, IMMT, YWHAE, NUDT21, RPP14, AP4S1, BAZ1A, KLF12, UCN, UBA7, HIRA, NLGN4Y, RAB7A, GLRA3, FOSL1, PEX3, SIGMAR1, EIF3H, EIF3A, ABCB11, SLC25A12, CITED2, MADD, PPFIA2, ARPP21, CDC42BPA, SEMA4B, BRAP, MAB21L2, TRAPPC2B, SH2B2, USP11, RAG2, MYLPF, GH1, LDHA, ZNF630, GJD2, AICDA, KRT7, KIF5C, KCNJ16, STARD9, KCNJ6, SRGAP1, KCNJ2, KCND3, WDR35, NLGN2, ANOS1, PCDH10, KCNT1, JUN, LAD1, CHMP1B, ITGB2, LEPR, CDK5RAP2, LRP2BP, MIP, MGP, MGMT, MBS1, MBP, MATN1, SLC50A1, MAP6, MAOB, PCDHGA10, MAN2C1, SLC2A4RG, KCMF1, LIMK2, COQ8A, CIP2A, ITGA6, RAD21, AGFG1, TOR3A, HNRNPH1, INF2, HLA-DPB1, MNX1, REEP1, UBE2K, NRG1, GUK1, PRRG4, FTO, MSH6, GRM7, GRIK4, ICE2, LIN28A, GHRH, HOXD13, DNAJA1, IL12A, HSPA4, IL1RN, IL1B, PRODH2, IL1A, TRPV4, ELAC2, BCORL1, IDH2, FAM111A, MRPS14, HTR7, HTR2B, TSPYL2, HTR1A, SLC39A8, DNAJB1, IGSF3, MNAT1, MPZ, CCDC88A, POU3F2, BFAR, PIP, PIGA, SERPINA4, WT1-AS, ZNF589, WDR83OS, VCX2, SCLY, OTUD6B, SF3B6, PBX1, CNTN5, PAFAH1B3, OXA1L, PCDH18, OMG, CDKL3, HSD17B12, CCL4L2, CEP83, RAB3A, PSAT1, NXPH1, PTH, CALY, SLC45A1, PSD, RELN, SHANK1, TBX22, ENFL2, PRKG2, NOSIP, PPP2R5B, PPP2R2C, COQ4, PPP2R2B, NPAS1, LEPROT, MED18, CNOT3, CHDH, LGR4, TRPV6, RNR1, ELMOD1, ENOSF1, KIF16B, ND4, ND1, ZNF407, CYTB, ATP6, MST1, BCAS4, TMEM127, MSMB, MSH2, CASC1, UBA6, NAB2, TESC, NGFR, NFIC, NEUROD1, NELL2, SARS2, NEFL, ULK4, NEFH, SBNO1, NEDD4, SOBP, ARMC4, NEB, NDP, NCL, NCAM2, H3P8
  • Obesity Wikipedia
    Obesity is a medical condition in which excess body fat has accumulated to the extent that it may have an adverse effect on health. [25] It is defined by body mass index (BMI) and further evaluated in terms of fat distribution via the waist–hip ratio and total cardiovascular risk factors. [26] [27] BMI is closely related to both percentage body fat and total body fat. [28] In children, a healthy weight varies with age and sex. ... As Asian populations develop negative health consequences at a lower BMI than Caucasians, some nations have redefined obesity; Japan has defined obesity as any BMI greater than 25 kg/m 2 [10] while China uses a BMI of greater than 28 kg/m 2 . [34] Effects on health Excessive body weight is associated with various diseases and conditions , particularly cardiovascular diseases , diabetes mellitus type 2 , obstructive sleep apnea , certain types of cancer , osteoarthritis , [2] and asthma . [2] [36] As a result, obesity has been found to reduce life expectancy . [2] Mortality Relative risk of death over 10 years in white people who have never smoked in the United States by BMI.
    MC4R, PPARG, POMC, CPE, AGRP, UCP3, PCSK1, SIM1, ENPP1, SH2B1, LEPR, LEP, NR0B2, MKKS, BBS4, BBS1, ESR1, LBP, ADIPOQ, IL6, CCL2, CNR1, CRP, HSD11B1, SIRT1, SIRT3, IRS1, LPL, ICAM1, CYP2E1, F2, PMCH, NPY5R, HK2, GPX3, FOXO3, CD40, ACSL1, HADH, NPY1R, INPP5E, GLUL, APOE, ADRB2, INS, CARTPT, TF, GHRL, FTO, ADRB3, NEIL1, GNAS, ADCY3, NPC1, PRKAR1A, AHR, NTRK2, SDC3, SDCCAG8, MYT1L, KCNMA1, BBS2, MRAP2, BBS9, RAI1, PHF6, AFF4, BBS10, HOXB5, VPS13B, PACS1, IGF2, FASN, HTR2C, AQP7, HCRT, GNB3, NAMPT, GH1, GCG, FAAH, BBS7, DPYD, MKS1, NEGR1, UCP1, PPARA, SERPINE1, PNPLA3, TNF, ARL6, UCP2, PTPN1, PYY, PRKCH, PPARD, TTC8, PLIN1, TMEM18, BBS5, AKT1, GNPDA2, FGF21, ANGPTL4, MMP9, RMST, LDLR, MC3R, BBS12, BCHE, TUB, HTR2A, KCTD15, TBC1D1, HSPA5, MIR21, PPARGC1B, SREBF1, ALMS1, ADRB1, MTCH2, PTGS2, CIDEA, GCK, TNFRSF1B, FGFR1, NR1I3, SAT1, SOD1, CD68, CYP1B1, MIR34A, TRPV1, CD163, CTSS, HMOX1, NR1I2, STS, NHLH2, IGFBP2, KSR2, CES1, ACACB, SOD2, OGG1, PCK1, CTF1, GPX1, ACHE, ITGAM, VLDLR, RAPGEF3, SLC22A1, CEBPA, IDO1, PRKAR2B, AKR1C3, ZNF169, CS, CA3, FTL, MIR130B, PFKFB3, MRC1, DDIT3, FCGR3B, TFRC, PARP1, ADH1B, ME1, RAB21, AKAP1, IL10, ALDH6A1, IL18, CPB2, APCDD1, COX7C, RARRES2, SOCS3, NUCB2, ACLY, ADIPOR1, ABCA1, MTOR, NR3C1, WNT3A, SCD, APLN, CYCS, MIR130A, ATPAF1, ADIPOR2, LACTB, ZFHX3, MMUT, MIR184, RBP4, NPY2R, SLC22A3, ALDH1L1, EFNB1, ECHS1, TGFB1, SLC22A2, PPARGC1A, DCXR, DRD2, FGGY, EP300, NQO1, TLR4, ACE, IL1B, NOS3, ESR2, PEX11A, NPY, ACP5, SUCLG2, ETFDH, IFNG, CYB5A, HMGB2, ACADM, SUCLA2, ENTPD6, ZFR2, LCN2, ZBTB7B, CASP1, MCHR1, GIP, LIPE, UQCRC2, GFPT1, GAS7, STAT3, CD36, CYP26B1, GLP1R, SLC16A7, PPM1L, SIRT6, SERPINF1, CPT1A, CCKAR, STK11, SERPINA12, DRD4, NR1H4, RPS6KB1, HP, GOT2, PRKCB, LIPC, C3, NMU, AR, ANGPTL6, CDKN2A, CCL5, AKT2, IGFBP3, MFN2, CST3, NMB, PNLIP, CAV1, ANKRD26, AOC3, BCL2, PRLH, CRH, SOCS1, NR1H3, SNAP25, TSC1, JAK2, HRH3, NNT, NPPB, ASIP, GUCY2C, PRKG1, NOS1, PON2, IGF1R, SREBF2, XDH, GAPDH, NR1H2, HK1, SLC27A1, FADS1, ALOX12, GLRX, CRHBP, NCOA1, CCL4, KDM3A, ATP5F1B, TYK2, GABRA6, PRLHR, PROX1, DRD1, SDC1, PTPRF, HSD11B2, DCN, GALP, BAD, CFD, MYC, MAPT, ALB, NDUFB6, RSC1A1, EHMT1, GIPR, AACS, EHD1, GJA5, PRKCI, HTR1B, BNIP3, SRD5A1, FADD, PRKCD, DEFB1, C5AR1, ATP5F1D, KITLG, RHOA, CYP19A1, HMGCS1, SFTPB, GPR12, ABCG5, SLC9A3, BDNF, PDE3A, STAT4, APOBEC1, FGG, CPS1, CDKN1B, PLSCR3, MYOG, CTSC, ATP4B, NCF2, GSTT1, PCSK1N, GPAM, SFTPA1, ADARB1, PIK3R1, MYOD1, OXCT1, OTC, G6PD, SLC10A1, CAV2, FAIM2, BEST1, DMD, SEC16B, LMNA, CTNNB1, APPL1, COMT, TFAP2B, HNF1A, ETV5, PTEN, NRXN3, EGF, ARG1, PRDM16, ATP6AP2, KISS1R, MAP2K5, RAP1A, MAGEL2, MLXIPL, H6PD, HNF4A, CADM2, DUSP6, TBX1, HDAC4, SOX6, SETD2, HLA-DRB1, MTMR9, UBE3A, ABCA4, CEL, CUL4B, PROK2, PAX6, TULP1, WNT4, EMD, KMT2D, NF2, PDX1, LZTFL1, CEP19, ABCC8, AHI1, LINGO2, WWOX, MECP2, ANOS1, GLDC, ARNT2, GATA4, WT1, HESX1, NEUROD1, ELN, RFC2, TNNI3K, MED12, FGFR3, EIF2S3, SOX2, KIDINS220, SOX3, RPTOR, RAB23, BLK, KCNJ11, PAK3, TRIM32, ARL13B, FTSJ1, AIP, PIK3CB, SLC7A14, GPT, CANT1, FNDC5, POC5, TP53, GRN, ALG13, NRXN1, KCNH2, ZNF408, PON1, AGTR2, APOA1, APOA5, RAB39B, BAZ1B, HS6ST1, FGF19, POLG, MRPS22, KIF7, CERKL, SLC2A4, ITPR3, LHFPL3, PIK3CD, STEAP4, ACADVL, PCARE, SKI, SLC6A4, PRPF4, HUWE1, HAMP, PRPF3, SH3KBP1, GP1BB, NIN, ZNF513, GNAT2, ARVCF, LRAT, MAK, LIMK1, SUGP1, JMJD1C, KLF11, POU3F4, PIK3CG, NR2E3, CRYZL2P-SEC16B, ARX, KLB, PROKR2, MTHFR, RETN, IMPG2, INSIG2, PLG, AHSG, USP8, KIAA1549, AGT, PRL, MAPK8, APRT, APP, CLOCK, FEZF1, IDH3A, IDH3B, HACE1, IGF1, PRKAB1, SPP1, PRKAA2, GDF15, IL1A, PRKAA1, RSRC2, IAPP, FAM161A, KLK3, UPF3B, TTC28-AS1, FRMPD4, IFT140, AMY1C, KCNAB2, OFD1, SEC24C, TRAPPC9, SCN1A-AS1, NR3C2, HOXB3, MAPK1, PNPLA2, DHX38, FFAR4, HS6ST3, SMARCB1, IL1RN, HCFC1, EYS, C8orf37, IMPDH1, SRY, ARHGEF6, USP9X, ZNF81, APOB, AGER, INSR, GUCA1B, AMY1A, GTF2I, CCDC141, ARL3, TRIM66, MOG, IL6R, LRRN4, HLA-DQB1, AMY1B, IFT88, LINC01524, COPD, HIF1A, SLC5A2, CXCL8, SOX10, GLRA3, MFAP1, PIK3CA, IL17A, GTF2IRD1, PCDH9, USP27X, SYNE1, LINC02465, SNRNP200, NRL, HIRA, TBCE, UGT1A5, UGT1A6, PDE4D, SPG11, IQSEC2, POGZ, UGT1A7, UGT1A8, IRX3, BDNF-AS, UGT1A10, SYNE2, VEGFA, BGLAP, CNGA1, CNGB1, DDHD2, SAG, RPGRIP1L, VDR, CRX, CXorf56, PDE6A, IL17RD, CLIP2, DGKG, PDGFB, IL1RAPL1, TMEM43, TMEM67, CYP7A1, LAS1L, NPHP1, CNNM2, PNKP, UGT1A3, ALPK1, RREB1, PDE6G, DGAT1, LRRC53, UGT1A1, UGT1A4, CTSH, CNKSR2, ZNF365, UGT1A9, FPGT-TNNI3K, TTC28, ARHGEF18, DCC, CEP290, P2RY11, SHBG, SOCS2-AS1, SIN3A, CCK, UFD1, PRCD, MYCBP, NSMF, ZGLP1, GHRLOS, TNFSF4, PAX4, CACNA1S, PAX5, CA4, PRPF31, SLC9A7, SUFU, IFT172, KCNJ18, DHDDS, BRS3, BRCA2, BRAF, FSCN2, USH2A, RDH12, OTX2, CLCN4, ADNP, PTCHD1, TBX3, PRMT7, IRS2, RNU1-1, ADCY9, CRB1, CETP, SCN1A, ARL2BP, CLRN1, TCF7L2, PDSS1, SHOX, KDM6A, IFT74, TCOF1, FLRT3, TBL2, BCDIN3D-AS1, SHANK3, PRPF6, RPE65, RPS6KA3, RPGR, SEMA3A, PTX3, FGF17, MYH9, ANGPTL8, APC2, FLII, FOXO1, RAP1B, AGBL5, KIZ, FHL1, RERE, RBMX, FGF8, SPATA7, NCAM2, MERTK, RP2, ERMARD, DEAF1, WDR11, RBP3, CHD7, POMGNT1, HGSNAT, LINC02055, KLHL7, TSPAN7, CCDC77, PROM1, SCAPER, SPRY4, EML6, GHSR, PTH, GHR, LINC01122, WDPCP, CASC15, SLC8A1, NSD1, GDI1, HOXB-AS3, ZNF41, NLRP3, TOPORS, ZNF711, GABRD, GABRA3, RABEP2, GABPA, FAT1, CCDC28B, SMAD4, PHIP, RP9, PNPLA6, NFE2L2, ERBB2, SEMA4A, BBIP1, SYP, EDN1, RP1, CDHR1, ROM1, NINJ1, MEGF8, PDE6B, ACSL4, DPP4, DNMT3A, RLBP1, NEK2, FABP4, PRPF8, TAF1, RHO, FABP2, TACR3, FARS2, DLG3, ATRX, RGR, MID2, REN, IFT27, REEP6, PRPH2, ARSA, NNMT, CIDEC, MSTN, IL33, BAAT, SPX, LPA, SORT1, ZBTB7C, SPARC, MPO, GCKR, MGAM, CASR, SFRP5, MAOA, LPIN1, MIR122, GPBAR1, MIR155, CMKLR1, APOA2, SI, ACKR3, CHDH, GRK2, GCGR, CD59, PHB, EDNRA, AZGP1, GAD2, APOC3, AMH, MME, LGR6, GPR151, LPAR2, MMP2, TNMD, NRG4, TNFRSF1A, MIR146A, PCSK9, CXCR6, FBN1, EPO, CAT, CDKAL1, SSTR4, GPR42, ENHO, SIRT2, MBOAT4, ADRA1A, ADRA2B, IL15, AGTR1, CPT2, THBS1, LGALS3, GPRC6A, ANPEP, FZD4, SGK1, CXADR, GPR166P, LECT2, VN1R17P, CCND1, NISCH, SLC2A1, C1QTNF5, CAPN10, IL37, GOLGA6A, ADAMTS13, CNBP, DIO2, MIR27A, EGFR, RCBTB1, BRD2, AVP, PDK4, MIR221, F5, CHPT1, MGLL, WNT5A, GAL, TRIB3, ATXN2, MRGPRX1, CAD, MBD2, FGF23, ANGPTL2, MRGPRX4, MRGPRX3, LPAR3, ITGAX, TNFRSF11B, NTS, KHDRBS1, GRAP2, MAPK14, OXER1, TLR3, SLC17A5, OPRM1, WNT1, RNF19A, OSM, NUP62, TLR2, RORC, ROS1, MIR33A, PLIN2, VCAM1, CCHCR1, OXTR, CXADRP1, SAA1, BMP4, CRK, BCL2A1, CEACAM1, ADM, F2RL1, ARR3, GTF2H1, AIMP2, ARNTL, HGF, GPR119, NR4A1, SQSTM1, MAPK3, HSPA1A, HSPA1B, MIF, SLC5A1, SPG7, MGAT1, SELENBP1, KRT16, ANGPT1, DCTN4, LCT, GPR55, IL32, XPR1, ACE2, RENBP, MSRA, POLDIP2, NMUR2, F3, AHSA1, ITLN1, WNT10B, FKBP5, XBP1, SERPINA6, MOK, MIR143, APOM, BFAR, MYD88, TM7SF2, TRIM13, ACP1, MTRR, CCN4, MTNR1B, MFRP, PGR, CD14, CXCL5, SFTPD, A1CF, IL22, PKD1, TWIST1, VGF, SYVN1, TRPM8, NOX4, LOC110806262, MAPK9, ADRA2A, APLNR, CRTC3, LYPLAL1, PSMD9, ABCG2, FFAR1, TPD52, FN1, GC, GHRH, C1QTNF12, TMPRSS2, GPS2, CXCL2, ACACA, HMGB1, ARG2, HSPA4, HSPD1, SESN2, IFNA1, IFNA13, IGFBP1, IL2, INPPL1, ANKK1, KCNQ1, KNG1, KRAS, TBK1, FOXC2, RABGEF1, FGF1, COX8A, CALCR, TFAM, CD38, CD44, CDH13, CHI3L1, TERF2IP, CNTF, MIR146B, MAP3K8, SCLY, FST, CTLA4, DBP, DECR1, METAP2, EPHB2, ESRRA, SPINK4, HPGDS, IGF2BP2, ANGPTL3, PTER, DGAT2, COX2, SNRPN, SLC30A8, NPPC, NHS, MEST, DLK1, MGAT2, NFKB1, MCL1, CREG1, NM, MTTP, MIR199A2, POSTN, ALDH1A1, FSTL1, SLC6A14, LEPROT, VWF, CYBB, CYBA, SULT2A1, CX3CR1, MIR148A, MMRN1, SLC25A19, LIPA, LINC01672, DDT, HDAC3, DNMT1, NDN, APOL1, MIR199A1, ESRRG, LGR5, MEG3, EBP, RNASEL, NDUFAB1, MIR223, PDCD4, SORBS1, MIR26B, ADAM17, TLE3, EIF4EBP1, LOX, HDAC11, CALR, NOCT, CD5L, CD1D, MOGAT2, CCR2, GGTLC4P, TH, ARID4B, GPRC5B, SELENOP, APOBR, NOD2, FAM71F1, CALCA, FOXO6, VPS51, CAPN5, SFRP4, BTF3P11, SPAG8, GGT2, PC, PRKN, ALOX5, S100A9, CCN3, THY1, RMC1, PSAT1, MIR181D, CISH, ZFPM2, OLR1, PDE3B, CHGA, GGTLC5P, SCN10A, SNORD116@, BACE1, TSLP, CDK4, SOST, GGTLC3, CREBBP, TLR5, FOS, RAPGEF5, CXCL10, HSPA12A, NRIP1, IL6ST, APOC1, PPY, IL4, ARRDC3, MCHR2, SMAD3, IL1R1, UBL5, KLF15, PERCC1, MBL2, FAS, HTR2B, ANGPT2, FSHR, INSIG1, INSRR, TTN, KL, MSC, ACVR1C, SLC6A8, NR0B1, PYCARD, LRP5, HIF3A, SLC6A3, LOC102723407, APOA4, ARID1A, KCNK3, CERS6, PLA2G1B, BRCA1, IRF6, TST, IRF5, LPIN2, IKBKE, HOXA5, MTCO2P12, GFRAL, PTPRU, TAS2R38, C1QTNF6, C1QL3, REM1, LRPPRC, PER2, GGT1, STAT5A, MMP1, STAT5B, LRRC8A, CTNNBL1, ABCB1, GAS6, MIR126, ATF4, GDF11, NR5A1, MMP3, AKR1B1, TSHR, TFEB, HCAR2, BMS1, IP6K1, NR4A3, CFH, GUCA2B, LEAP2, LCE1C, GSTM1, TAS2R13, SST, OGT, MED13, FFAR2, TIMP1, TIMP3, TRH, TRPM2, THRSP, THRB, CRISP2, ADM2, TPH1, TRPC1, THBD, KLF13, TNFRSF4, APPL2, CCL27, QRSL1, LGR4, SLC30A10, SELENOS, HMG20A, ACSS2, AP3S2, MYDGF, PRG4, SGSM3, SORBS3, METTL3, DNAJC27, CCL28, TOB1, SLC27A6, DNM1L, SUCNR1, BCL2L11, HSPA14, MVP, TBC1D4, DNAJC6, KEAP1, RGS6, ABCG1, HPSE, NPFFR2, DHX40, GPR83, PTPN22, LUC7L3, TM6SF2, PTOV1, BAMBI, ZNF318, PANX1, CADM1, PLA2G15, PPP1R15A, DAPK2, SMUG1, PADI4, HAVCR1, IL23A, CRTC1, NEDD4L, RRS1, ZNF423, ACAD8, KDM4B, NT5C2, ATF6, NUDT3, TNFRSF12A, SLC27A2, MTMR11, ABHD6, GDF3, NPEPPS, TBPL1, TNFSF11, XYLT2, CARD9, DGKE, ATRN, HHIP, PLA2G6, CERK, P2RY12, IL25, TAM, PINK1, AAAS, PLA2G7, PRRC2A, VKORC1, CXCR4, METRN, XRCC1, WFS1, VIP, VIM, MUL1, USF1, UROD, UCN, TYRP1, KLF7, TNKS, ABHD5, IL21, LITAF, ARHGAP21, MAGED1, CFAP97, ATG5, LIPG, SLC22A8, PPIG, SLIT2, SCG3, KLF4, NOG, GER, TNFSF14, CD274, CLDN10, ARTN, REPIN1, SENP2, SPHK1, NPC1L1, KAT2B, CCN5, SOCS2, TNFSF10, THADA, ATP10D, PGC, PLIN4, LPAR4, RNR1, MUSK, MIR532, CDK6, MIR32, GPER1, NFATC3, NPPA, NFE2L1, RTL1, NGF, NNAT, NOS2, CXCR3, CCDC80, CDKN1A, CDKN2B, CEACAM5, MIR200B, NCF1, LINC00689, MALAT1, MMP14, CHIT1, CBLL2, CHRM2, DBI, CHRNA2, MFAP2, DAG1, SGMS2, GPD1, GNRHR, PLTP, PLA2G4A, PFKP, PGF, GFAP, SERPINA1, PIN1, PKM, PLAG1, GLO1, PLAT, CBS, GEM, LINC01194, RBM45, CASP3, CCT, PER1, PECAM1, ENPP2, GFER, FUNDC1, CD8A, GJA1, GJA4, SERPINA5, REG3A, GK, HT, PAEP, ORM1, GLB1, IL34, MDK, DNAJB9, MC5R, C1QTNF9, RGMB, CRY1, IGFALS, CYP2B6, CYP2B7P, IKBKB, CREM, MC1R, ASPM, IL13, CREB1, CRABP1, ING2, CPT1B, CYP2A6, IFNB1, CSF1R, HOXD13, IDE, CYP1A2, PLF, CCN2, CYP1A1, CUX1, TNC, HCCAT5, MIR342, HSF1, HSPG2, CTSK, METRNL, MIR425, CP, COX4I1, PRSS55, MAS1, CHRNA3, MIR96, MAF, GSTK1, SMAD2, CHRNA5, GSTP1, CHRNB4, PYY3, CRTC2, CYP27A1, CLU, EIF2AK4, H2AX, ISL1, CCR5, MIR519D, LCAT, HFE, KRT18, KRT7, KISS1, COL6A3, HHEX, JAK3, COMP, EIF6, BRWD3, COPA, CAST, HSPA2, ATF3, AIF1, APOD, EPAS1, ENPEP, GPC4, MIR222, CCL20, CCL19, ASCL1, TLR10, CCL11, ASPA, MIR107, ACSM3, SAA2, S100B, FGB, S100A8, ELANE, FGF2, ERN1, BED, FGF5, SLC39A13, NLRP12, PTK2B, FGF10, ADCY8, ACAN, FDXR, AMD1, SELP, MIR15B, SGIP1, SLN, FCGR2B, SLC15A1, SLC6A2, ERG, ANXA1, ALOX5AP, ANXA2, SLC2A2, SNRNP70, MIR152, LARP1BP2, ALDH2, SOD3, SORL1, SHC1, IL1F10, SPZ1, ROPN1L, SFRP1, ACCS, SETMAR, RNU6-392P, CBSL, SELPLG, ATP5F1A, FGF13, RGS2, MIR23A, PROS1, TCF21, PROC, TEK, BMP2, MAP2K3, MAPK10, DUSP1, THEM4, PRKCA, BMPR1A, PREP, PRCP, G6PC, DSPP, TERF1, TSC22D3, ANTXR2, RCAN1, C1QBP, C3AR1, CD24, GABRA2, ATN1, C20orf181, PON3, MIR10B, MIR1275, MIR141, F13A1, UCN3, ADCY5, EGR1, FGL1, RAPSN, FLAD1, WDR26, PRRT2, ADA, MAP3K7, FKBP4, BGN, TAL1, FOXM1, MIR29A, TBX15, TMPRSS15, FMO3, FBL, BDKRB2, TAZ, AAA1, C1QTNF1, PTPN2, FLT1, AMPD1, MIR204, RBFOX1, MIR324, MIR210, SAGE1, MTPAP, IMPACT, NUDT11, PLAAT2, ULK4, MARCHF1, MIR27B, MIR28, MIR30D, PID1, MIR23B, MIR296, MIR30C2, MIR30C1, PRMT6, ATG16L1, MIR326, MIR31, TMEM160, MIR216A, VPS13C, BECN2, EEF1A1P11, QPCTL, LAPTM4B, PLIN5, MIR22, CASZ1, MIR320A, DNAJB3, LARP6, TNFSF12-TNFSF13, PSPC1, MOB1A, CYP2W1, DOCK5, TREM1, MIR335, MIR4443, MIR4777, COMMD3-BMI1, KLRC4-KLRK1, RSRC1, DEL11P13, TMX2-CTNND1, DACT1, TAOK3, PRKAG2, LY75-CD302, DCDC2, SIRT7, TMED7-TICAM2, MIR1908, BOP, LSR, WAGRO, IBD20, ENDO1, DIP, ACSL5, MUPP, MIR374B, VTRNA2-1, ZSCAN30, MIR4460, MIR4517, ARL15, TLR8, FOXP3, H3P23, STIN2-VNTR, TMED7, ORI6, SIRT1-AS, RN7SL263P, CST12P, LRP1-AS, APH1A, LINC00237, THRA1/BTR, SLC45A2, ERICD, LOC102724971, LOC102724197, MACORIS, LINC01412, LSINCT5, OPN1MW3, PGR-AS1, MZB1, BIRC6-AS1, RXFP3, KCNK9, MIR675, MIR758, ADA2, SERF1B, POU5F1P4, KRT20, RNF216, EXOSC4, POU5F1P3, MIR483, DELYQ11, MIR522, MIR496, ROBO4, DDIT4, MIR20B, MIR448, MIR429, MIR31HG, MIR424, EGLN1, MIR423, MIR383, MIR379, MIR378A, MIR377, MIR361, CISD2, MIR374A, XRN1, RETREG1, SLC38A2, USP17L25, LRP1B, OPN1MW2, GPR84, USP17L30, RAB4B, CNTN5, USP17L29, USP17L28, USP17L27, USP17L26, POTEF, FAM3B, PPP1R3G, USP17L24, MCHR2-AS1, MIR652, MIR634, POLE3, MIR593, MIR551B, NANS, MIR33B, RPL7P9, TREM2, MIR203A, ARNTL2, MIR200A, GSTO2, TAAR1, SLCO6A1, MTMR14, CLEC7A, EBF2, NUCKS1, OSCP1, CPT1C, ZNF543, IQCK, SPPL3, TPH2, AIDA, MSS51, GPAT4, RFX7, NDRG4, TWIST2, RLN3, FTSJ3, NBEAL1, AGAP2, WNK1, LRG1, STK33, ABHD15, SLC22A12, SLC5A11, KLF14, MAGEC3, PLXNA3, PM20D1, FAM3A, CREBRF, PAQR3, CNTN4, EXOC4, XXYLT1, ERFE, ELOVL5, CPAT1, ZNF385B, PLB1, PHETA2, GAS5, HJV, MAGEE2, CREB3L4, ATP8B3, CILP2, UBE2O, TICAM1, LYPD4, DMRTA1, CDAN1, PIWIL4, MACROD2, NPVF, TRIM69, S100A16, HAUS1, C1QTNF7, C1QTNF3, TMTC1, ZNF469, ZGPAT, FN3KRP, COL25A1, HOPX, CHCHD5, TBL1XR1, MAF1, POLR1B, HORMAD1, CARF, ADGRV1, IMMP2L, CSPP1, NABP2, ITCH, PARP9, ARHGAP24, SLC38A1, WNT5B, CMIP, ITIH5, LPAL2, MAP9, FUZ, SPSB1, RIN3, ASRGL1, CNDP1, GPAT3, PERM1, RAX2, OSBPL11, SORCS1, ASPSCR1, TXNRD3, ELOVL6, DBA2, PPP1R14A, APOO, SFXN1, PRDM6, SLC38A5, GGTLC1, MBOAT7, CERS5, PYGO2, TBL1Y, MCU, SCRN2, UCN2, SIGLEC12, TSPYL5, HELZ2, LGALS12, ABCC11, SLC35B4, MFSD2A, PPP1R3B, SLC2A12, VKORC1L1, KCTD7, CHKB-CPT1B, GPCPD1, PARD3, USP17L9P, SLC2A9, UOX, ASAH2, SPHK2, CELF4, SEMA3G, THEMIS, SUMO4, PTGES2, DUSP22, USP17L2, PNPLA1, KCP, ASPG, TICAM2, RGMA, LCE1A, SLC12A9, SLC35B2, GNAT3, MCIDAS, RPGRIP1, TIGAR, SLC35D3, STING1, MIR125A, ANKH, MIR132, MIR136, MIR19B1, MIR192, MIOX, BMP2K, MIR17, STAP2, ZNF407, HIF1AN, MIR150, VPS35, CNDP2, SEPTIN11, MBD5, MCTP2, MIR149, ADCY10, DOK5, CENPJ, EAF2, CISD1, PSENEN, LMO3, MIR145, CMAS, MIR144, MIR140, SULF2, GPIHBP1, FLJ33534, ALOXE3, TAPT1, IL27, PELI3, THSD7A, HOXA11-AS, METTL14, PHACTR1, MARK4, MARCHF8, TMEM26, MTIF3, CCDC171, CCAR2, PTBP2, SPRED2, LPAR5, PIKFYVE, MLKL, CXCL16, NLRC4, METTL21C, ARID2, DCP1B, PGAM5, NLRP6, TMPRSS6, MARCHF10, TRPV4, SLC35G1, ANGPTL5, DENND1A, CPNE5, MAGEE1, RSPO1, CD248, ATP10A, JPH3, CAVIN1, CCDC57, HID1, AS3MT, SLC24A3, OR10A4, H19, AHRR, JAKMIP3, IFNL1, ZNF608, IFNL3, NLGN2, SEMA6A, NAP1L5, HCA1, TAS2R12P, IS1, SGMS1, LRRN1, TCERG1L, NPNT, CHD8, PDE11A, A2M, F11R, KIR3DL2, KIR2DS1, KIR2DL1, KHK, KCNJ13, KCNJ5, ITPR2, ITGB6, ITGB2, ITGAD, IRF7, IRF4, IRF3, IRF1, ILK, TNFRSF9, IL16, IL10RA, IL9, IL5, IL2RB, IL1RAP, KIR3DL1, KRT31, IGFBP7, LALBA, ADAM11, MC2R, MBP, MARK3, MARK1, MAOB, SMAD6, NBR1, LY75, CD180, LUM, LTBP3, CYP4F3, LTA, LRP2, LRP1, LOXL2, LNPEP, LIF, LGALS1, LETM1, CCN1, IFNGR1, MEFV, HAS2, GUCY2D, GUCA2A, GTF3A, MSH6, GSTA4, GSR, GSK3B, GSK3A, GRP, CXCL1, GRIN1, GRB14, GPX4, GRK5, GRK4, FFAR3, GPR39, GPR35, UTS2R, GOLGB1, GNRH1, HADHA, HDAC2, IFI27, HEXA, ID3, ID1, ICAM3, IARS1, HTR6, HTR3A, HTR1D, HSP90AA1, HSPB1, HSD17B1, HES1, HPR, HOXC10, HOXC9, HNRNPH1, HNRNPA1, FOXA2, HMBS, HLA-DRB3, HLA-B, NRG1, MDM2, MAP3K3, GNA12, PPID, PPIA, POU5F1, POU3F2, PRRX1, PNOC, PMAIP1, PLXNA1, PLOD2, PLK1, PLEK, PLD1, PLCB2, PLAU, PLAGL1, PLA2G5, PLA2G2A, PKHD1, PITX3, PIM1, SERPINA4, PHF2, PPIB, PPP2R2A, PEX1, PPP2R5C, PTPN11, PTPN6, PTGS1, PTGDS, PTGDR, PTCH1, PSMB6, PSG5, PSEN1, KLK7, RELN, PROP1, PRNP, EIF2AK2, MAP2K6, MAPK7, PRKDC, PRKCZ, PRKD1, PRB1, NPY4R, SLC25A3, PEG3, MAP3K5, NCAM1, MYH7, MYH6, MYCL, MUC1, MTR, ND1, MTHFD1, CYTB, ATP6, MT2A, MT1B, MST1R, MSN, MSH2, CD200, MMP19, MMP15, MMP12, MLH1, MIP, MGAT3, MYL2, NCK1, PDK2, NEFL, PDK1, PDE4B, PDCD1, PDC, PCNA, PCK2, CNTN3, PAM, SERPINB2, P4HB, P2RY2, P2RX7, OPRD1, OMG, NR4A2, NTSR1, NRF1, NPR1, NOTCH2, NMBR, NFYA, GNAQ, GM2AP1, PTPRC, SCARB1, MS4A1, CCNE1, KRIT1, CCKBR, CBR1, RUNX1T1, RUNX1, CASP8, CAPNS1, CAPN3, CAPN2, CAPN1, CAMP, CAMK2A, CALD1, CA5A, CFAP410, TSPO, BUB1B, ZFP36L1, DST, CD33, SCARB2, BMI1, ENTPD1, CHRNA4, CHEK1, CHD2, CEACAM8, CFTR, CETN1, CEBPD, CEBPB, CDX2, CDK8, CDK5, CDH11, CDH2, CDC42, CDK1, CD81, CD79A, CD74, CD69, CD48, CD47, BMPR2, BLVRA, CLCN7, BIRC3, AIRE, APC, ANXA6, ANK2, AMY2B, AMY2A, AMBP, ALPL, ALOX15, ALDOB, CRYBG1, ADORA3, ADORA2B, ADORA2A, ADORA1, ADCYAP1, ACTN3, ACTB, ACP3, ACAT2, ABO, BIRC2, APLP2, BID, AQP9, BHMT, CFB, BCS1L, OPN1SW, TNFRSF17, BCL6, BCAT2, BCAT1, AVPR1B, AVPR1A, ATP7B, ATP5F1E, ATP2A3, ATP2A2, ATM, ATIC, ASAH1, ARSD, ARRB2, RND3, ABCC6, CLCN3, CLK2, GLI2, FES, FDFT1, FCGR3A, FCGR1A, FAT2, FANCB, FABP3, F11, F10, F9, F2RL2, F2R, EZH2, ETV3, ETFA, ESRRB, ERCC4, ERCC2, ERBB4, ENO2, ELAVL2, EIF4EBP2, FDPS, FOXC1, EIF2S1, FLNA, GLI1, GJA8, GJA3, GH2, GFI1, GDF10, GDF2, GCY, OPN1MW, GCH1, GATA2, GALNT2, GALR1, GALE, GABPB1, SLC37A4, FYN, FSHB, FPR2, FLT3, FLNC, EIF4E, EDNRB, CLN3, CTRL, CSTA, CSK, CSF3, CSF2, CSE1L, CRY2, CRMP1, CRHR2, CPN2, CPN1, CORT, COL12A1, COL9A3, COL6A1, COL4A1, COL1A1, ACKR2, CCR7, CCR6, CMA1, CLTA, CTNND1, CTSB, ECT2, CTSL, E2F1, DUSP9, DUSP5, DRD5, DPT, DOCK2, DNAH8, DIO1, DIH1, AKR1C2, DAPK3, DACH1, CYP27B1, CYP24A1, CYP21A2, CYP17A1, CYP11A1, CYP3A4, CYP2D6, CYP2D7, CYP2C9, PTPRB, PTPRE, TAS2R14, OLFM4, AGPAT2, ARL6IP5, PRDX4, ZNRD2, HYOU1, KAT5, SEMA3C, SEMA4D, NCOA2, SLC9A6, TIMM44, MAD2L2, TOMM40, OLFM1, IFI30, YAP1, PIAS3, PEMT, CEPT1, CITED2, KLF2, SLC35A1, DPYSL4, RTN3, TXNRD2, UTS2, MRPS30, USP19, ADAM28, LILRB1, PPP1R13L, WASF3, CCR9, SEPTIN9, NES, NFAT5, OGA, POLD3, TNFSF13B, GNA13, DCTN6, CGRRF1, CELF1, CAMKK2, RGS14, SCGN, AKR1A1, RAMP3, PRDX3, KCNE2, LPGAT1, KBTBD11, SEC16A, SGSM2, C2CD5, GAB2, MELK, PIEZO1, KMT2B, SART3, SEMA3E, PUM1, EDEM1, NCOR1, WTAP, PREPL, NR1D1, BCAR1, VPS26A, MRPL33, CXCL14, THRAP3, AKT3, RAMP2, TANK, IRX5, SPRY1, RCAN2, PLIN3, TRIB1, ANGPTL7, CALCRL, RNF41, RBM6, DHRS9, WASF2, TRIM28, FAM13A, BCAP31, PPIF, ABCC5, GJC1, PARP2, CHAF1A, INSL5, HDAC6, PAPOLA, FERMT2, BAG3, TMEM97, HCAR1, GLS2, NAAA, INTU, FOXP1, NOX1, MLH3, NPTN, FETUB, NUPR1, FBXO3, KIFBP, CFAP61, DNM3, ACOT11, ZZZ3, GORASP2, SNED1, EGFL6, GEMIN5, POC1A, SIT1, STK39, PRDX5, MCAT, ASAP1, NEUROG3, DELEC1, NOX3, G0S2, SOCS7, PLA2G2E, NXPH1, MDFIC, HOOK2, TRPM5, LGALS13, BRD7, MYLIP, PHPT1, NOB1, MCTS1, FLVCR1, DLL1, MAT2B, DESI1, MOB4, TAFA5, SDS, KDM4C, WDTC1, RAB18, KLRK1, MLXIP, VASH1, SYNPO, OIP5, TUSC2, PDAP1, VSIG4, KLHL2, AKAP13, IRAK3, MAP4K5, WDHD1, PRDM4, ADAMTS5, RAPGEF4, RIPK3, SLC27A4, SLC27A5, CAND2, KDM6B, SPDEF, GPD1L, GCA, DIANPH, LY96, MKRN1, AMACR, DDAH2, SEC14L2, TRAM1, OTP, TARDBP, MLYCD, NCS1, SIRT4, SIRT5, DICER1, SIK3, PSD3, PHLPP1, SIK2, NBEAL2, PASK, PTGES, GAL3ST1, PTPRJ, STAT1, ST2, SSTR2, ITPRID2, SRC, SPTBN1, SPTA1, SPINK1, SPI1, SOAT1, FSCN1, SNCG, SNCA, SMPD1, SMO, SMARCA2, SNAI2, SLPI, SLC19A1, SLC16A1, SLC12A3, SLC6A12, ST13, STAU1, SLC2A5, STC1, THRA, THBS2, TGFBR2, TGFB3, TFF3, TFF2, TFDP1, TCN2, HNF1B, TCEA1, TBXA2R, TBL1X, TAT, TADA2A, TAC3, TAC1, SYT4, SUV39H1, SULT1A1, STXBP3, SULT1E1, SLC5A5, SLC2A3, TIMP4, TSPAN31, S100A12, S100A7, S100A6, S100A4, RYR2, RRAS, RPS19, RPL29, RPL11, RPL10, ROCK1, ROBO1, RNASE2, RGS4, REG1A, RBMS1, RASA2, RASA1, RAC1, PVALB, PTPRS, SAA3P, MSMO1, ST3GAL2, CCL3, ST6GAL1, SH3GL1, SCG5, TRA2B, SRSF1, SFRP2, SFPQ, MAP2K4, SELENOW, SELE, SEL1L, CXCL12, SDC2, CX3CL1, CXCL11, CCL22, CCL18, CCL17, CCL14, CCL8, CCL7, TIE1, TSPAN8, ADAMTS1, SNURF, PER3, LDB1, ASAP2, HCAR3, NRP1, CES2, FGF18, TRIM24, TNFSF9, TNFSF12, ADAM19, TNFRSF25, BECN1, STX16, SLC4A4, PDE5A, UNC5C, PDXK, DENR, PIAS1, BHLHE40, EIF2S2, WASF1, CYP4F2, USP10, STX8, CHST3, LY86, MAP4K4, AIM2, GSTO1, NCR2, FADS2, LONP1, SLC22A6, SNAP29, B4GALT5, S1PR2, DHRS3, GPR50, UBE2L6, AURKB, LRRFIP1, SLC33A1, ZBED1, PCSK7, MAPKAPK5, DOC2B, TNNI3, ZNF214, ZFP36, YWHAZ, YY1, WRN, WNT7A, LAT2, WAS, VEGFC, VAV2, UTRN, UGT1A, AAVS1, TYRO3, TUFM, TTR, TRPS1, TRPC3, TRP-TGG3-1, TRAF6, NR2C2, TP73, ZBTB16, PRDM2, NCK2, MOGS, MEHMO, ULK1, TAGLN2, LOH19CR1, BRAP, PICALM, SERF1A, TKTL1, NAA10, BAS, NCOA3, GDF5, HMGA2, MFAP5, ADAM12, LHX3, GHS, LAP, REEP5, SEMA3B, FZD5, H3P10
    • Obesity Due To Melanocortin 4 Receptor Deficiency Orphanet
      Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function. Epidemiology The prevalence in the general population is probably around 1 in 2000. The prevalence of MC4R mutations has been estimated at between 0.5 and 1% in obese adults (body mass index >30) with higher values among populations with severe childhood-onset obesity and variability between ethnic groups. Etiology MC4R is a G protein-coupled receptor involved in the hypothalamic leptin-melanocortin signalling pathway.
    • Obesity Mayo_clinic
      Overview Obesity is a complex disease involving having too much body fat. Obesity isn't just a cosmetic concern. It's a medical problem that increases the risk of many other diseases and health problems. These can include heart disease, diabetes, high blood pressure, high cholesterol, liver disease, sleep apnea and certain cancers. There are many reasons why some people have trouble losing weight. Often, obesity results from inherited, physiological and environmental factors, combined with diet, physical activity and exercise choices. The good news is that even modest weight loss can improve or prevent the health problems associated with obesity.
  • Papillary Renal Cell Carcinoma Wikipedia
    Type 1 PRCC is caused by a genetic mutation or a gain in chromosome 7 where the MET gene is positioned, resulting in the promotion of oncogenic pathways in renal epithelial cells. [6] Typically, the MET gene is upregulated for renal tissue repair and regeneration by encoding the receptor tyrosine kinase c-MET of hepatocyte growth factor . [6] However, activation of the oncogenic pathway in the MET gene will manifest invasion, anti-apoptosis, angiogenesis, and metastasis. [6] Type 2 PRCC is associated with irregularity of several signaling pathways, which includes CDKN2A silencing, mutation in chromatin-modifying genes, and a GpG island methylator phenotype (CIMP). [27] CDKN2A is a tumor suppressor gene, while loss of its expression results in enhanced tumorigenesis and metastasis. [27] [28] Moreover, mutation of gene involved in chromatin remodeling ( SETD2 , BAP1 , or PBRM ) may lead to higher rate of TFE3 / TFEB fusion. [27] Additionally, CIMP papillary renal cell carcinoma tumors exhibited somatic FH gene mutation, which is closely associated with HLRCC syndrome. [29] Diagnosis [ edit ] Currently, cross-sectional imaging with computed tomography (CT) and magnetic resonance imaging (MRI) is known as the best option for diagnosing papillary renal tumors. [30] Unenhanced (left) and nephrographic phase (right) CT scans display a 1-cm low-attenuation PRCC tumor (arrow) in the right renal cortex [8] Computed tomography (CT) [ edit ] Contrast-enhanced computed tomography (CT) is most commonly used to identify the subtypes of RCC. ... PMID 22112490 . ^ Lee J, Chae HK, Lee W, Nam W, Lim B, Choi SY, et al. (2018-12-28). "Comparison of Prognosis in Types 1 and 2 Papillary Renal Cell Carcinoma and Clear Cell Renal Cell Carcinoma in T1 Stage" .
    MET, MITF, PRCC, VHL, TFE3, KRT7, ERBB2, GSTP1, SLC2A1, ELOC, POMC, PIK3CA, ADIPOQ, RPL14, INPP4B, FPGT, TNFSF10, CRADD, UNC5C, TAGLN2, BAP1, KDM5C, PEBP1, MLLT10, PAK1, TSC1, TP53, TGM2, PDHB, HNF1B, HNF1A, NF2, SOD2, SLC5A3, PGK1, ACY1, RYR1, RELA, PVALB, PTGS2, PTEN, ZNF536, ACHE, KEAP1, AHNAK, LMAN2L, CARD11, SLC49A4, NAV3, ZNF765, NLRP12, ZNF804A, CSMD3, LRRK2, ASB15, DNHD1, FAAH2, FLCN, OR4C13, VMO1, MSGN1, FAM111B, BIRC7, SPTBN4, CUL7, FMN2, NDRG1, CPQ, BTG3, AKAP13, RNF139, PDXDC1, SYNE2, PRAME, YIPF3, PNKD, SETD2, SHANK1, LRP1B, TET2, PBRM1, PIDD1, AP5M1, OGG1, SFRP2, APRT, MUC4, IL6, ALDH1A1, ALK, ALOX5, IFNA2, HSPD1, HSPB1, HSPA9, ALOX12B, ANXA4, APAF1, BIRC5, HARS1, EEF2, BCHE, GSTT1, GSTM1, GRB7, GJB1, EPAS1, MTOR, IL6R, IL4R, IL13, KRT32, CNN2, SCARB1, CASP2, CAPG, M6PR, ALAD, LDHB, L1CAM, CRABP1, KRT8, KCNMA1, DAPK1, CTSD, CTSB, CRYAB, FLT1, CDC73, HABP2, LMNA, FOXE1, MINPP1, VEGFA, AMACR, KDR, CD38, FH, MME, RASSF1, CA9, MYC, KIT, SNORD14D, SNORD14C, CD47, MIR1180, TWSG1, MIR1293, MIR379, KMT2C, ACE2, FBXO47, EIF2AK4, MIR34A, MIR200C, MIR181C, MIR134, MIR127, FBXO11, AKT1, DDR1, RAB37, APC, CDC34, SETDB2, BRAF, SNORD35B, RIOX2, BSG, BUB1, SNORD14E, SNORD14B, MEG3, DHCR24, LARP6, CDH1, HIF1A, TOP2A, TIMP3, TIMP1, UBE2K, SYP, IGFBP7, SLC16A1, SFPQ, RRM2, SNORD15A, CD82, PYCR1, PTK7, CFP, PAX2, MUC1, TBC1D25, OAT, NONO, NFE2L2, XRCC1, PAX8, FZD1, KDM4C, CDR2, CMA1, APH1A, CD274, CLDN7, MCTS1, MCAT, UBE2S, HAVCR1, ACE, CUL3, RALBP1, EGF, EGFR, ELAVL2, ETFA, NAPSA, FGFR2, FOLH1, GABPA, MIR3199-2
    • Papillary Renal Cell Carcinoma Gard
      Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. It accounts for about 10-15% of all renal cell carcinomas. R enal cell carcinoma s are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney.The term "papillary" describes the finger-like projections that can be found in most of the tumors. PRCC can be divided into two types: type 1, which is more common and usually grows more slowly and type 2, which are usually more aggressive .Though the exact cause of papillary renal cell carcinoma is unknown, smoking, obesity, and genetic predisposition conditions (such as hereditary leiomyomatosis and renal cell cancer ) may contribute to the development of this type of cancer. Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy, chemotherapy, biological therapy, or targeted therapy .
    • Papillary Renal Cell Carcinoma Orphanet
      Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-Dubé syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.
  • Neutropenia, Severe Congenital, 1, Autosomal Dominant Omim
    Ishikawa et al. (2008) identified heterozygous mutations in the ELA2 gene in 11 (61%) of 18 Japanese patients with severe congenital neutropenia. Five (28%) patients had SCN3 (610738) due to mutation in the HAX1 gene.
    ELANE, TCIRG1, GFI1, SRP54
    • Severe Congenital Neutropenia Medlineplus
      Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The deficiency of neutrophils, called neutropenia, is apparent at birth or soon afterward. It leads to recurrent infections beginning in infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation of the gums (gingivitis) and skin.
    • Neutropenia, Lethal Congenital, With Eosinophilia Omim
      Andrews et al. (1960) described 2 affected sibs. The parents were not known to be related. It is not entirely certain that this is an entity separate from that listed as agranulocytosis (202700). It is possible that some cases of neonatal neutropenia are due to fetomaternal immunization involving neutrophil-specific antigens (Lalezari and Radel, 1974). Inheritance - Autosomal recessive - ? heterogeneous etiology Misc - Neonatal lethal Heme - Neonatal neutropenia - Eosinophilia ▲ Close
    • Neutropenia, Severe Congenital, 2, Autosomal Dominant Omim
      A number sign (#) is used with this entry because severe congenital neutropenia-2 (SCN2) is caused by heterozygous mutation in the GFI1 gene (600871) on chromosome 1p22. For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700). Clinical Features Person et al. (2003) identified a heterozygous mutation in the GFI1 gene (600871.0001; see MOLECULAR GENETICS) in a 4-month-old boy with SCN2 who had a neutrophil count of zero and marked monocytosis. The mutation segregated with his 3-year-old paternal half brother, who was identically affected, and with their father, who had recurrent pneumonia and pyogenic abscesses abating during childhood. The father's childhood blood counts were not available, but at age 27 his neutrophil count was low and monocytes high.
    • Autosomal Dominant Severe Congenital Neutropenia Orphanet
      A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.
  • Dog Skin Disorders Wikipedia
    The Merck Veterinary Manual . 2008 . Retrieved 2009-01-28 . ^ Martens, S.M. (February 2016).
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