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  • X-Linked Recessive Chondrodysplasia Punctata Wikipedia
    .; Fong, Chin-To; Mefford, Heather C. (eds.). GeneReviews . Seattle (WA): University of Washington, Seattle.
  • Atlanto-Occipital Dislocation Wikipedia
    . ^ Hanson, JA; Deliganis, AV; Baxter, AB; Cohen, WA; Linnau, KF; Wilson, AJ; Mann, FA (May 2002).
  • Phyllodes Tumor Wikipedia
    PMID 30805490 . ^ Barth RJ Jr; Wells WA; Mitchell SE; Cole BF (2009). "A prospective, multi-institutional study of adjuvant radiotherapy after resection of malignant phyllodes tumors" .
    MED12, KMT2D, RARA, FLNA, SETD2, TP53, EGFR, KIT, LOC110806263, TERT, ESR1, PDGFRA, RCAN2, PIK3CG, HIF1A, PIK3CA, CKAP4, MMP2, RASSF1, MDM2, RPE65, UVRAG, ESR2, DNAJC5, AR, TWIST1, CD34, MIR21, CDKN2A, RCAN1, PIK3CB, TP63, PIK3CD, GEMIN2, ZBED1, TNFRSF25, HMGA2, ZEB2, INPP4B, TOX, SLC9A3R2, SCAF11, ACTB, HOXB13, POSTN, SIK1B, MIR335, MIR155, SIK1, CD276, VTCN1, RBM15, IL21, ZNF410, IMPACT, FOXP3, IL22, OBP2A, PRAME, CXCR4, TRAM1, CXCL12, VIM, FASN, IGF1R, HTC2, NR3C1, MTOR, FOXC2, FHIT, FGFR1, ERBB2, TSC1, DPT, DCN, CTNNB1, CDK4, CA9, BRCA1, CCND1, IGF2, ILK, KIF22, MLH1, ZEB1, SSR1, SPARC, SDHB, SDHA, AKT1, CCL20, CCL19, CCL18, S100A4, NTRK1, NRAS, MYC, MMP14, MMP9, H3P10
    • Phyllodes Tumor Of The Breast Orphanet
      Phyllode tumor of the breast is a rare fibroepithelial neoplasm accounting for less than 1% of all mammary tumors, usually presenting in adult females (most frequently between the ages of 35-55 years), ranging from benign to malignant and often presenting with well circumscribed mobile masses that grow rapidly and sometimes with additional non-specific symptoms such as dilated skin veins, nipple retraction, skin ulcers, palpable axillary lymphadenopathy or blue discoloration of the skin.
    • Phyllodes Tumor Of The Breast GARD
      Phyllodes tumors of the breast are rare tumors that start in the connective (stromal) tissue of the breast. They get their name from the leaf-like pattern in which they grow (phyllodes means leaf-like in Greek). They are most common in women in their 30s and 40s, although women of any age can be affected. These tumors, which are usually painless, tend to grow quickly, but rarely spread outside of the breast. Most phyllodes tumors are benign. About 1 in 10 are cancerous. The underlying cause of these tumors in unknown.
  • Glycogen Storage Disease Type Ix Wikipedia
    Phosphorylase Kinase Deficiency . Seattle (WA): University of Washington . PMID 21634085 . update 2011 ^ a b "Glycogen storage disease type IX" .
    PHKB, PHKA2, PHKG2, PHKA1, APRT, G6PC, MFAP1, BTD, CALM3, COX8A, GPT, PYGL, XIC, PRKAG2
    • Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency Orphanet
      Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms). Epidemiology The prevalence at birth is estimated at around 1/100,000. Clinical description GSD due to liver PhK deficiency is the most common sub-type and presents in early childhood with hepatomegaly, growth retardation, and mild delay in motor development. During adulthood, symptoms usually disappear. Patients with GSD due to liver and muscle PhK deficiency may have marked hepatomegaly and mild muscular hypotonia in childhood.
  • Disinhibition Wikipedia
    "Tip Sheet – Positive Behaviour Support Model" (PDF) . Disability WA . Retrieved 2009-01-30 . External links [ edit ] The Online Disinhibition Effect Social Behaviour In Cyberspace External Inhibition & Disinhibition v t e Psychopathy Contexts In fiction In the workplace Characteristics Anti-social behaviour Bold Callous Diminished empathy Disinhibited Grandiose Impulsive Lack of guilt Manipulative Pathological lying Remorseless Shallow affect Superficially charming Related topics Antisocial personality disorder Conduct disorder Dark triad Flying monkeys History of psychopathy Juvenile delinquency Machiavellianism Macdonald triad Narcissism Psychopathic Personality Inventory Psychopathy Checklist Sadistic personality disorder Sexual sadism disorder Sociopathy Notable theorists Hervey M.
    TARDBP, CHMP2B, TREM2, TYROBP, VCP, PSEN2, PSEN1, SQSTM1, ABCA7, TOMM40, VPS13A, MAPT, SPAST, TBK1, SORL1, TMEM106B, CHCHD10, FUS, FTL, FMR1, APP, GRN, HGSNAT, C9orf72, SST, LRRK2, PVALB, TGFB1, VIP, CD200R1, HTR3B, EBPL, ALB, REN, SLC6A4, ROBO2, AR, BDNF, CCN2, ELK3, ETFA, GALNS, NR3C1, GRM2, HCRT, HTR2A, LRP1, MUC1, OPRM1, OXA1L, PDYN, PRKCG, PRL, ALDH2, ROBO1, STIN2-VNTR
  • Heart Arrhythmia Mayo Clinic
    Scottsdale, AZ 85259 Phone: 480-301-8484 Florida Mayo Clinic Heart Rhythm Program 4500 San Pablo Road Jacksonville, FL 32224 Phone: 904-953-0859 Minnesota Mayo Clinic Heart Rhythm Program 200 First St.
    GJA1, OPRK1, KCNH2, CACNA1C, ACE, KCNJ2, KCNE2, AGT, EDN1, HTR4, PPP1R1A, KCND3, BVES, CTNNA3, CACNA2D1, GYG1, KCNE1, OPRL1, CNNM2, TRH, SGO1, ESR2, AVP, SLC22A5, PTGS2, KNG1, KCNJ8, CD36, ADM, FKBP1B, CACNA2D2, KCNQ1, SOD2, SCN5A, LMNA, GNAI2, OPRD1, PTPN22, PIK3CA, TTR, CAV3, DMD, SCN1B, TRPM4, SCN4A, MECP2, TTN, TBX3, GLA, MYH6, CPT1A, LAMP2, NKX2-5, CPT2, BMP2, NDUFB11, PEX6, PEX10, ND1, ND2, PEX7, PEX13, PEX12, ND4, PEX14, ADA2, PHYH, CYTB, TDP2, COX3, PRTN3, PEX1, PCCB, KRAS, ND5, PSMB8, TRNL1, MEFV, NRAS, TRNK, TRNE, ND6, SALL4, SCN3B, PEX26, TMEM70, LAMA2, PCCA, MYH7, GDAP1, ATP6, RPS24, PTPN11, TTPA, SOS2, SOX10, KAT6B, TAZ, LARS2, SPECC1L, SYNE2, TAB2, TNXB, TOP3A, TSC1, TSC2, MRAS, MTO1, POLG2, VHL, RPL35, AKAP10, LZTR1, NAA10, PEX3, PEX11B, SLC19A2, PHOX2B, FBLN5, PEX16, SOS1, WIPI2, PEX19, RPS10, PEX2, PEX5, RAF1, RASA2, RIT1, RPL5, RPL11, RPL15, RPL18, RPL26, RPL27, RPS7, RPS15A, EFEMP2, RPS17, RPS19, RPS26, RPS27, RPS28, RPS29, RRAS, RYR2, SCNN1A, SCNN1B, SCNN1G, SLC40A1, RPL35A, ND4L, HCCS, GTPBP3, GATA1, HFE, CASR, HLA-B, GPC3, ANK2, HRAS, GNA11, HLA-DPB1, GNAQ, GPX4, BRAF, GSN, HADHA, HADHB, HMBS, HSPG2, FOXC2, FHL1, MYLK2, ACADM, ELN, EP300, A2ML1, HJV, HBB, CTLA4, ERCC6, CREBBP, COX7B, KCNQ1-AS1, MGME1, ERCC8, TSR2, GPC4, HLA-DPA1, FSD1, FSD1L, CASQ2, HCN4, PREP, PAEP, REN, TBX5, PKP2, SCN10A, GJA5, CALM1, HRC, IL6, SLC8A1, CRP, TNF, PIK3CG, TNNI3, PIK3CD, CALM2, PLN, PIK3CB, PITX2, APLN, AGTR1, SCN1A, IDS, KCNJ5, MALAT1, RYR1, ALDH2, KCNA5, BIN1, TRDN, CALM3, DSG2, NOS1AP, CTAA1, ATN1, DSP, SNAP91, CYBB, RGS6, HGS, COPD, HACD1, TSPO, PICALM, CAP1, MMRN1, MIR206, GPD1L, TAL1, BRD4, EDA, SPTBN1, BCHE, TPM1, CALR, SORBS1, VWF, CAT, RANGRF, FGF23, SRSF5, ALB, KRIT1, KCNQ1OT1, SMUG1, KCNE3, HMGB1, LGALS3, SERPINB6, KCNK2, IL10, ERG, IL1B, SCLY, PTPA, NLRP3, KCNK3, CHDH, LNPEP, HARS1, P2RX7, KCNK17, CAMKMT, EPHA3, FLNC, EMD, GATA4, NR3C2, KRT7, SELENON, SNORD118, DPP10, PSIP1, TUSC2, POTEM, ACOT7, PDAP1, VARS2, MIR448, MIR151A, POTEKP, MIR34A, MIR31, TBX20, MIR30A, CHPT1, MIR208A, SESN2, TEC, SIRPA, POLR2M, PGR-AS1, GJC1, PDF, POPDC2, ABCC9, ACE2, TOPORS, GDF11, STX6, SIGMAR1, BET1, PERCC1, CAAP1, RBM25, MIR208B, KLF2, RAPGEF3, ASRGL1, MYZAP, P2RX5-TAX1BP3, FAS-AS1, MRPS30, PAPOLA, KCNIP4, P2RX2, RAPGEF4, ADAMTS13, MIR1231, SIRT1, FAM20C, DCDC2, ACTBL2, ESAM, DUOX1, BTBD8, CAVIN1, TANGO2, KCNIP2, EHD4, XIRP2, MYOZ2, RBM20, DUOX2, TECRL, ZC4H2, PRKAG2, SPRED2, PLB1, GP6, MAPKAP1, GCOM1, RBM45, ALG10B, TNNI3K, CUZD1, PPARGC1B, GATA5, CAVIN4, LRRC10, TERF2IP, SGSM3, ADCY10, OBSCN, MIR200C, ASAP1, MIR19B1, NCS1, MIR182, HOPX, QRSL1, MMD, EBPL, KCNE4, PACC1, MTPAP, PDPR, MOCOS, MIR155, MIR130A, POU2F3, TRPM7, KLHL24, ALG10, SIGLEC7, HSPB7, RABGEF1, CDAN1, SERPINA3, SCO2, HOXD13, HCLS1, GSTP1, GNG11, GCLC, GCG, FGF13, FBN1, PTK2B, FANCC, F2, ETV1, ESRRG, ESR1, EPHX2, ELK3, ELANE, EGF, HLA-DRB1, IL2RA, MMP3, IL2RB, MFAP1, MEF2A, SMCP, MC5R, MAP6, SMAD7, LRP6, LEP, KCNH1, KCND2, KCNC4, KCNA4, ITPR3, ITPR1, ITPKB, IL17A, IL4, DSC2, DRD4, DPP6, DMPK, ATP2A2, ATM, ZFHX3, ARNTL, RHOA, KLK3, APRT, ANGPT2, AMBP, AKT1, ADRB1, ADCYAP1, ADCY6, ACTN2, ACTG2, ACTG1, ACP3, BRCA2, VPS51, CAD, COL4A5, SARDH, DECR1, DCT, CYP19A1, CUX1, CTNNB1, CSF1, COL4A1, CALCR, CLN3, CHI3L1, CD40LG, CD38, RUNX3, CASP1, CAMK2D, MMP1, MPO, PCLAF, SCG2, VEGFA, VCL, UGCG, UCP2, TYRP1, TRPC3, TNNT2, TNFRSF1B, TIMP1, TGFB3, TGFB1, TEAD4, TCF3, TBX2, TACR3, ABCC8, SULT2A1, ZAP70, SHOC2, NGF, DYSF, BAG3, TBPL1, GDF15, FHL5, HAND1, ADIPOQ, SLC33A1, P2RX6, AIP, TRPA1, CACNA1H, NR1I2, ASAP2, CES2, CREG1, PDE5A, KHSRP, STIM1, SQLE, SOD1, SNTA1, PML, PLEC, ABCB1, PGM1, PER1, PDE4D, PCYT1A, REG3A, PAK1, P2RY2, P2RY1, P2RX5, P2RX4, P2RX3, P2RX1, NTRK1, NOS3, POMC, PRKAA2, MAPK3, SGK1, SNRNP70, SLC22A2, SLC6A8, SLC6A4, STIL, PMEL, SHOX2, SELP, MAPK9, SRL, SCD, S100A1, AAVS1, REST, RAP1A, PTH, CERNA3
  • Health Effects Of Tattoos Wikipedia
    , Environmental Health Perspectives , retrieved 7 September 2014 ^ Workshop on "Technical/scientific and regulatory issues on the safety of tattoos, body piercing and of regulated practices" , European Commission, 2003 ^ Wagle, WA; Smith M. (June 2000). "Tattoo-induced skin burn during MR imaging" . ... Radiol Med . 112 (4): 491–508. doi : 10.1007/s11547-007-0154-4 . PMID 17563855 . Wagle WA, Smith M (2000). "Tattoo-induced skin burn during MR imaging".
  • Vascular Malformation Wikipedia
    . ^ Sadick, M; Müller-Wille, R; Wildgruber, M; Wohlgemuth, WA (September 2018). "Vascular Anomalies (Part I): Classification and Diagnostics of Vascular Anomalies" .
    VEGFA, ENG, SLC2A1, RASA1, TEK, DUSP5, ELMO2, PDCD10, TACR1, VWF, WT1, NRP2, MVP, ACTB, FOXP1, TAC1, SOX18, AGGF1, WNT10A, MIR424, C20orf181, AOS, CD274, CCL2, ACVRL1, PTEN, ADRB3, JAG1, BRAF, KRIT1, FGF2, FLNA, FLT1, GDF2, IL10, NTRK1, PDCD1, PECAM1, PIK3CA, PLG, MAPK3, IH
  • Skin Infections And Wrestling Wikipedia
    Wrestling Rules and Interpretations (2008): WA-15-A-18. ^ "Bacterial Infections" About Infections. 18 Dec. 2008 ^ "Molluscum Contagiosum" . ^ Berman, Kevin.
  • Arts Syndrome Wikipedia
    .; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews . Seattle (WA): University of Washington, Seattle.
    PRPS1
    • Arts Syndrome GeneReviews
      Summary Clinical characteristics. Arts syndrome, which is part of the spectrum of PRPS1 -related disorders, is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection, all of which – with the exception of optic atrophy – present before age two years. Signs of peripheral neuropathy develop during early childhood. Twelve of 15 boys from the two Dutch families reported with Arts syndrome died before age six years of complications of infection. Carrier females can show late-onset (age >20 years) hearing impairment and other findings. Diagnosis/testing. The diagnosis of Arts syndrome can be established in a male proband with absent ribose-phosphate pyrophosphokinase 1 (PRS-I) enzyme activity in erythrocytes, or significantly lower PRS-1 enzyme activity in fibroblasts than in controls, or identification of a hemizygous pathogenic variant in PRPS1 by molecular genetic testing. The diagnosis of Arts syndrome can be established in a female proband with suggestive clinical features and identification of a heterozygous pathogenic variant in PRPS1 by molecular genetic testing.
    • Lethal Ataxia With Deafness And Optic Atrophy Orphanet
      Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. Epidemiology It was initially described in 12 male members from five generations of a Dutch family. Arts syndrome has also been described in one Australian family. Clinical description Other manifestations included floppiness, susceptibility to infections, and later, flaccid tetraplegia and areflexia. Etiology It is caused by missense mutations in the phosphoribosyl pyrophosphate synthetase 1 gene ( PRPS1 ) localized to Xq22.1-q24, leading to impaired purine biosynthesis. Genetic counseling Arts syndrome is transmitted as an X-linked recessive trait.
    • Arts Syndrome MedlinePlus
      Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Boys with Arts syndrome have profound sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear . Other features of the disorder include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. In early childhood, affected boys develop vision loss caused by degeneration of nerves that carry information from the eyes to the brain (optic nerve atrophy).
    • Arts Syndrome OMIM
      A number sign (#) is used with this entry because of evidence that Arts syndrome (ARTS) is caused by loss-of-function mutation in the PRPS1 gene (311850) on chromosome Xq22. Loss-of-function PRPS1 mutations, resulting in decreased enzyme activity, can also cause X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5; 311070) and X-linked deafness-1 (DFNX1; 304500). There is considerable phenotypic overlap between Arts syndrome, CMTX5, and DFNX1, as well as intrafamilial variability depending on gender, X-inactivation ratio, residual enzyme activity, and additional factors. Males tend to be more severely affected than females in all 3 disorders, although some females can show severe features. These disorders are best considered as representing a phenotypic spectrum (summary by Almoguera et al., 2014; Synofzik et al., 2014).
    • Arts Syndrome GARD
      Arts syndrome is characterized by sensorineural hearing loss and serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Arts syndrome is caused by mutations in the PRPS1 gene which is located on the X chromosome. It is inherited in an X-linked recessive manner.
  • Hartnup Disease Wikipedia
    . ^ Online Mendelian Inheritance in Man (OMIM): 234500 ^ Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A (September 2004). "Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder".
    SLC6A19, CLTRN, ACE2, PHC2, IDUA, RPS27, SLC1A5, TTK, EGLN1, MPEG1, IGFALS, SOD1
    • Hartnup Disease MedlinePlus
      Hartnup disease is a condition caused by the body's inability to absorb certain protein building blocks (amino acids) from the diet. As a result, affected individuals are not able to use these amino acids to produce other substances, such as vitamins and proteins. Most people with Hartnup disease are able to get the vitamins and other substances they need with a well-balanced diet. People with Hartnup disease have high levels of various amino acids in their urine (aminoaciduria). For most affected individuals, this is the only sign of the condition.
    • Hartnup Disorder OMIM
      A number sign (#) is used with this entry because Hartnup disorder (HND) is caused by homozygous or compound heterozygous mutation in the SLC6A19 gene (608893) on chromosome 5p15. Clinical Features First described by Baron et al. (1956), this disorder is characterized by a pellagra-like light-sensitive rash, cerebellar ataxia, emotional instability, and amino aciduria. Scriver et al. (1985) suggested the existence of 2 forms of Hartnup disease: in the classic form the defect is expressed in both intestine and kidney; in a variant form it is expressed only in kidney. In the United States, cases of the full-blown clinical disorder are not seen, probably because of super-adequate diet. Mahon and Levy (1986) reported on the childbearing experience in unrelated women with what they called Hartnup disorder and defined as an inborn error of neutral amino acid transport.
    • Hartnup Disease Orphanet
      A rare metabolic disorder belonging to the neutral aminoacidurias, mainly characterized by skin photosensitivity, ocular and neuropsychiatric features, due to abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). Epidemiology The estimated prevalence is approximately 1 in 30,000. Clinical description Most subjects who fulfil the biochemical diagnostic criteria (mostly detected by newborn screening programs) remain asymptomatic. In the few symptomatic subjects, clinical symptoms usually appear in childhood (3-9 years of age), but sometimes manifest as early as 10 days after birth, or as late as early adulthood. Symptomatic subjects usually present with skin photosensitivity (pellagra-like skin eruption), neurological symptoms (intermittent cerebellar ataxia, spasticity, delayed motor development, trembling, headaches, and hypotonia), and psychiatric symptoms (anxiety, emotional instability, delusions, and hallucinations). Ocular manifestations may occur (double vision, nystagmus, photophobia, and strabismus).
    • Hartnup Disease GARD
      Hartnup disease is a metabolic disorder characterized by abnormal transport of certain amino acids in the kidney and gastrointestinal system. It is a type of aminoaciduria. The condition may be diagnosed based on the results of newborn screening tests. Most people with the condition have no symptoms (asymptomatic). For those who do show symptoms, the onset of the disease is usually between the ages of 3 and 9; occasionally the disease may present in adulthood. Mental development is usually normal, though a few cases with intellectual impairment have been reported. The signs and symptoms of Hartnup disease incude skin photosensitivity, neurologic findings, psychiatric symptoms, and ocular (eye) findings.
  • Galactose Epimerase Deficiency Wikipedia
    FEBS J . 272 (23): 6170–7. doi : 10.1111/j.1742-4658.2005.05017.x . PMID 16302980 . ^ de Jongh WA, Bro C, Ostergaard S, Regenberg B, Olsson L, Nielsen J (October 2008).
    GALE, GALK1, GALT
    • Galactose Epimerase Deficiency Orphanet
      A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. Epidemiology Overall prevalence is not known but the disorder is thought to be very rare. Annual incidence is not known. Clinical description The disorder represents a continuum from peripheral to generalized states with corresponding disease severity. When ingesting breast milk or lactose-containing formula, patients may develop hypotonia, poor feeding, vomiting, weight loss, jaundice, hepatomegaly, splenomegaly, liver disorders, aminoaciduria, impaired growth, cataracts and cognitive deficiency. In severe cases, the disease can be life-threatening. Etiology Galactose epimerase deficiency is caused by mutations in the GALE gene (1p36) encoding the UDP-galactose 4-epimerase enzyme.
  • Dural Arteriovenous Fistula Wikipedia
    PMID 29624150 . ^ Borden JA, Wu JK, Shucart WA (1995). "A proposed classification for spinal and cranial dural arteriovenous fistulous malformations and implications for treatment".
    CERNA3, PCYT1A, VEGFA, NDC1, TSPAN2, COIL, TGFBR2, PTEN, ACVRL1, CD38, SERPINE1, NFE2L2, MMP2, GABPA, F5, ENG, SERPINB2
    • Dural Arteriovenous Fistulas Mayo Clinic
      Overview Dural arteriovenous fistulas (dAVFs) are abnormal connections between an artery and a vein in the tough covering over the brain or spinal cord (dura mater). In this rare condition, abnormal passageways between arteries and veins (arteriovenous fistulas) may occur in the brain, spinal cord or other areas of your body. Dural AVF s tend to occur later in life (50 to 60 years of age), and they're not typically passed on genetically — children aren't more likely to develop a dAVF simply because their parent has. Although some dAVF s stem from known causes, it's thought that dAVF s involving large brain veins usually form due to narrowing or blockage of one of the brain's venous sinuses, which normally route circulated blood from the brain back to the heart. Treatment for dAVF usually involves an endovascular procedure or stereotactic radiosurgery to block the blood flow to the dAVF .
  • Fournier Gangrene Wikipedia
    CS1 maint: multiple names: authors list ( link ) ^ Zamboni, WA; Riseman, JA; Kucan, JO (1990). "Management of Fournier's gangrene and the role of hyperbaric oxygen" .
    SLC5A2, POMC, SLC9A6
    • Fournier Gangrene GARD
      Fournier gangrene refers to the death of body tissue of the genitals and/or perineum. Signs and symptoms of the condition include genital pain, tenderness, redness, and swelling with a rapid progression to gangrene . Although the condition can affect men and women of all ages, it is most commonly diagnosed in adult males. Most cases of Fournier gangrene are caused by an infection in the genital area or urinary tract. People with impaired immunity (i.e. due to diabetes or HIV ) have an increased susceptibility to the condition.
  • Fragile X-Associated Tremor/ataxia Syndrome Wikipedia
    .; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews . Seattle (WA): University of Washington, Seattle.
    FMR1, C9orf72, FXN, RAN, FMR1-AS1, IGFALS, UBR4, TARDBP, SOD1, IL13, KHDRBS1, MAK16, PLB1, EXOSC7, MIR574, MIR424, SRRM2, NUP62, ATXN10, MIR221, RBMS3, DROSHA, TRA2A, DOCK11, UBQLN2, DCTN4, DGCR8, PNO1, NOP56, DIP2B, IRF2BPL, BEAN1, ASPSCR1, NUFIP2, APOE, PTTG1, PLA2G2A, BRCA2, CDK5, DAXX, FANCD2, MTOR, GRM5, GTF2H1, IGF2R, IL10, LMNA, PLA2G1B, PPP2R2B, SQSTM1, PSEN1, PTBP1, RAD23A, RAD23B, SGCA, SLC1A3, TK2, VIM, YWHAZ, PLA2G6, ATM, HDAC3
    • Fragile X-Associated Tremor/ataxia Syndrome Orphanet
      Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia. Epidemiology Prevalence and incidence are unknown. The disease primarily affects males and there is a lifetime cumulated risk for men in the general population of about 1/8,000. Clinical description The age of onset of tremor and/or ataxia in males is about 60 years. The clinical presentation is heterogeneous with variable dominant manifestations including: intention tremor, progressive cerebellar gait ataxia, frontal executive dysfunction, cognitive decline, peripheral neuropathy, and dysautonomia. Other signs include mild parkinsonism and psychiatric manifestations (depression, anxiety, agitation) with possible progression to dementia.
    • Fragile X-Associated Tremor/ataxia Syndrome MedlinePlus
      Fragile X-associated tremor/ataxia syndrome (FXTAS) is characterized by problems with movement and thinking ability (cognition). FXTAS is a late-onset disorder, usually occurring after age 50, and its signs and symptoms worsen with age. This condition affects males more frequently and severely than females. Affected individuals have areas of damage in the part of the brain that controls movement (the cerebellum ) and in a type of brain tissue known as white matter, which can be seen with magnetic resonance imaging (MRI). This damage leads to the movement problems and other impairments associated with FXTAS.
    • Fragile X Syndrome MedlinePlus
      Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions.
    • Fragile X Tremor/ataxia Syndrome OMIM
      A number sign (#) is used with this entry because fragile X tremor/ataxia syndrome (FXTAS) is caused by an expanded trinucleotide repeat in the FMR1 gene (309550.0004). In FXTAS, the expanded repeats range in size from 55 to 200 repeats and are referred to as 'premutations;' full repeat expansions with greater than 200 repeats results in fragile X syndrome (FXS; 300624) (Jacquemont et al., 2003). Description Jacquemont et al. (2007) provided a review of fragile X syndrome, which they characterized as a neurodevelopmental disorder, and FXTAS, which they characterized as a neurodegenerative disorder. Amiri et al. (2008) provided a review of FXTAS and noted that the pathogenesis of the disorder is distinct from that in fragile X syndrome. FXTAS results form a toxic gain of function of FMR1 RNA, whereas fragile X syndrome results from a loss of FMR1 function.
  • Argyll Robertson Pupil Wikipedia
    . ^ Dr Christopher Dente and Dr Andrew Gurwood, The Argyll Robertson Pupil [ permanent dead link ] ^ Fletcher WA, Sharpe JA (1986). "Tonic pupils in neurosyphilis".
  • Holt–oram Syndrome Wikipedia
    ., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
    TBX5, SALL4, SMOC1, TGFB2, TBX1, BMP4, KLF13, RASSF1, TRIM66, VDR, TPR, TFAP2B, TBX3, TAZ, BCL2, RAC1, PPARG, SERPINA1, PECAM1, PCNA, NFE2L2, MET, LMNA, GJA5, ERG, ATN1, NKX2-5, SRSF2
    • Holt-Oram Syndrome OMIM
      A number sign (#) is used with this entry because of evidence that Holt-Oram syndrome (HOS) is caused by heterozygous mutation in the TBX5 gene (601620) on chromosome 12q24. Description Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991). Clinical Features Although the abnormality of the upper extremities is more extensive in some cases, the characteristic findings in the Holt-Oram syndrome are thumb anomaly and atrial septal defect. The thumb may be absent or may be a triphalangeal, nonopposable, finger-like digit.
    • Holt-Oram Syndrome Orphanet
      A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Epidemiology Holt-Oram syndrome (HOS) prevalence is estimated at 1/ 100,000 live births (in Hungary), but various cases have been published worldwide. Clinical description The clinical picture of HOS covers a wide spectrum of upper extremity defects, always including the radial ray, and cardiac defects. Radial ray upper limb anomalies include carpal bone malformation(s) as well as triphalangeal or absent thumb(s), phocomelia, hypoplasia or aplasia involving the radius often resulting in unequal arm lengths, transverse upper limb defects including abnormal forearm pronation and supination. Patients may have more severe left than right upper-limb abnormalities.
    • Heart-Hand Syndromes Wikipedia
      This article needs editing for compliance with Wikipedia's Manual of Style . In particular, it has problems with not using MEDMOS. Please help improve it if you can. ( July 2017 ) ( Learn how and when to remove this template message ) Heart-hand syndromes Other names Atriodigital dysplasia Holt–Oram syndrome has an autosomal dominant pattern of inheritance. Specialty Medical genetics Heart-hand syndromes are a group of rare diseases that manifest with both heart and limb deformities. [1] [2] [3] [4] As of July 2013 [update] , known heart-hand syndromes include Holt–Oram syndrome , Berk–Tabatznik syndrome , heart-hand syndrome type 3, brachydactyly-long thumb syndrome, patent ductus arteriosus-bicuspid aortic valve syndrome and heart hand syndrome, Slovenian type. [5] Contents 1 Types 1.1 Heart-hand syndrome type 1 1.2 Heart-hand syndrome type 2 1.3 Heart-hand syndrome type 3 1.4 Heart-hand syndrome, Slovenian type 1.5 Brachydactyly-long thumb syndrome 1.6 Patent ductus arteriosus-bicuspid aortic valve syndrome 2 Genetics 3 See also 4 References 5 External links Types [ edit ] Heart-hand syndrome type 1 [ edit ] Main article: Holt–Oram syndrome Heart-hand syndrome type 1 is more commonly known as Holt–Oram syndrome . Is the most prevalent form of heart-hand syndrome. [1] It is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and may also cause heart problems. The syndrome includes an absent radial bone in the arms, an atrial septal defect , and a first degree heart block . [6] Heart-hand syndrome type 2 [ edit ] Main article: Berk–Tabatznik syndrome Heart-hand syndrome type 2 is also known as Berk–Tabatznik syndrome . [ citation needed ] Berk–Tabatznik syndrome is a condition with an unknown cause that shows symptoms of short stature, congenital optic atrophy and brachytelephalangy .
    • Holt-Oram Syndrome MedlinePlus
      Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals. Often, these wrist bone abnormalities can be detected only by x-ray. Individuals with Holt-Oram syndrome may have additional bone abnormalities including a missing thumb , a long thumb that looks like a finger , partial or complete absence of bones in the forearm, an underdeveloped bone of the upper arm, and abnormalities of the collar bone or shoulder blades. These skeletal abnormalities may affect one or both of the upper limbs.
    • Holt-Oram Syndrome GARD
      Holt-Oram syndrome affects the bones of the hands and arms and may also affect the heart. People with Holt-Oram syndrome have at least one bone in the wrist that did not form (develop) normally. Other bones in the hands, arms, and shoulder may also have developed abnormally. Many of these developmental changes in the bones can only be seen on an x-ray . Most people with Holt-Oram syndrome also have heart problems, including problems due to the way the heart formed (congenital) or problems with the way the heart beats.
    • Heart-Hand Syndrome Orphanet
      Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms).
    • Holt-Oram Syndrome GeneReviews
      Summary Clinical characteristics. Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum.
  • X-Linked Spinal Muscular Atrophy Type 2 Wikipedia
    GeneReviews® [Internet] . Seattle (WA): University of Washington, Seattle; 1993–2014.
    UBA1, ZC4H2
    • Spinal Muscular Atrophy, X-Linked 2 OMIM
      A number sign (#) is used with this entry because of evidence that this X-linked form of infantile X-linked spinal muscular atrophy (SMAX2) is caused by mutations in the UBE1 gene (314370) at Xp11. Description X-linked infantile spinal muscular atrophy (XL-SMA) is characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures, known as arthrogryposis, associated with loss of anterior horn cells and infantile death (summary by Ramser et al., 2008). Historically, Hall et al. (1982) distinguished at least 3 clinical varieties of X-linked arthrogryposis. (1) One family had a severe lethal form with severe contractures, scoliosis, chest deformities, hypotonia, micrognathia, and death from respiratory insufficiency by age 3 months. Apparently progressive loss of anterior horn cells was the cause. (2) Two families had moderately severe AMC associated with ptosis, microphallus, cryptorchidism, inguinal hernias, and normal intelligence. Nonprogressive intrauterine myopathy appeared to be the 'cause'. (3) In 2 families and a sporadic case, the disorder took the form of a resolving AMC, with mild to moderate contractures improving dramatically with time, normal intelligence, and no other anomalies; tight connective tissues on misplaced tendons was postulated.
    • X-Linked Infantile Spinal Muscular Atrophy MedlinePlus
      X-linked infantile spinal muscular atrophy is a condition that affects only boys and is characterized by severe muscle weakness and absent reflexes (areflexia). Affected children often have multiple joint deformities (contractures) from birth that cause joint stiffness (arthrogryposis) and impair movement. In severe cases, affected infants are born with broken bones. The muscle weakness worsens over time; affected children reach some early motor developmental milestones, such as sitting unassisted, but these skills are often lost (developmental regression). Additional features of X-linked infantile spinal muscular atrophy include an unusually small chin (micrognathia ), abnormal curvature of the spine (scoliosis or kyphosis ), and undescended testes (cryptorchidism). Weakness of the chest muscles used for breathing often leads to life-threatening breathing problems.
    • Infantile-Onset X-Linked Spinal Muscular Atrophy Orphanet
      X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.
  • Branchio-Oto-Renal Syndrome Wikipedia
    Branchiootorenal Spectrum Disorders . Seattle (WA): University of Washington, Seattle.
    SIX1, EYA1, SIX5, TFAP2A, CDCA8, AFP, DACH1, EYA4, EYA2, NDUFB9, OTX2, SALL1, RBCK1, SHARPIN
    • Branchiootorenal Syndrome 1 OMIM
      A number sign (#) is used with this entry because branchiootorenal syndrome-1 (BOR1) is caused by heterozygous mutation in the EYA1 gene (601653) on chromosome 8q13. Description Branchiootorenal syndrome is an autosomal dominant disorder characterized by sensorineural, conductive, or mixed hearing loss, structural defects of the outer, middle, and inner ear, branchial fistulas or cysts, and renal abnormalities ranging from mild hypoplasia to complete absence. Reduced penetrance and variable expressivity has been observed (Fraser et al., 1978). Genetic Heterogeneity of Branchiootorenal Syndrome See also BOR2 (610896), caused by mutation in the SIX5 gene (600963) on chromosome 19q13. Sanchez-Valle et al. (2010) stated that approximately 40% of patients with BOR have mutations in the EYA1 gene and 5% have mutations in the SIX5 gene.
    • Branchiootorenal Syndrome GARD
      Branchiootorenal syndrome is characterized by birth defects or anomalies of tissues in the neck, malformations of the external ear, hearing loss, and kidney malformations. Symptom and symptom severity can vary greatly from person to person. It can be caused by mutations in the EYA1, SIX1, or SIX5 genes. It is passed through families in an autosomal dominant fashion. Treatment may include surgery to remove the anomalies of the neck (i.e., branchial fistulae or cysts), careful assessment and management of hearing loss, and follow-up by a kidney specialist (nephrologist). In some cases dialysis or kidney transplant may be required.
    • Branchiootorenal Syndrome 2 OMIM
      A number sign (#) is used with this entry because of evidence that branchiootorenal syndrome-2 (BOR2) is caused by heterozygous mutation in the SIX5 gene (600963) on chromosome 19q13. For a phenotypic description and a discussion of genetic heterogeneity of the branchiootorenal syndrome, see BOR1 (113650). Clinical Features Hoskins et al. (2007) reported 5 patients with a clinical diagnosis of BOR who carried heterozygous mutations in the SIX5 gene. One of the patients had bilateral dysplastic kidneys and a right preauricular tag but normal hearing. A second had bilateral cervical fistulas; right-sided hemifacial microsomia, preauricular sinus, and pinna malformation; hearing loss in both ears, with the right side more affected than the left; and bilateral renal dysplasia with diminished renal function.
    • Bor Syndrome Orphanet
      Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Epidemiology Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. Clinical description The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. Etiology The causative gene, EYA1 , is located on the long arm of chromosome 8.
  • Costeff Syndrome Wikipedia
    (eds.). GeneReviews(®) . Seattle (WA): University of Washington, Seattle.
    OPA3, MICOS13, TIMM8A, DMPK, FXN, OPA1, SPG7, TAZ, ATRN, MFN2, KIF1B, SERAC1
    • Costeff Syndrome GeneReviews
      Summary Clinical characteristics. Costeff syndrome is characterized by optic atrophy and/or choreoathetoid movement disorder with onset before age ten years. Optic atrophy is associated with progressive decrease in visual acuity within the first years of life, sometimes associated with infantile-onset horizontal nystagmus. Most individuals have chorea, often severe enough to restrict ambulation. Some are confined to a wheelchair from an early age. Although most individuals develop spastic paraparesis, mild ataxia, and occasional mild cognitive deficit in their second decade, the course of the disease is relatively stable. Diagnosis/testing. The diagnosis of Costeff syndrome is established in a proband with suggestive findings by identification of biallelic OPA3 pathogenic variants on molecular genetic testing.
    • 3-Methylglutaconic Aciduria, Type Iii OMIM
      A number sign (#) is used with this entry because 3-methylglutaconic aciduria type III, also known as autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, is caused by mutation in the OPA3 gene (606580). See also autosomal dominant optic atrophy-3 (165300), an allelic disorder with a less severe phenotype. For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950). Description Type III 3-methylglutaconic aciduria is a neuroophthalmologic syndrome consisting of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal dysfunction, and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and of 3-methylglutaric acid is increased (Anikster et al., 2001).
    • Costeff Syndrome MedlinePlus
      Costeff syndrome is an inherited condition characterized by vision loss, delayed development, and movement problems. Vision loss is primarily caused by degeneration (atrophy) of the optic nerves , which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results in vision impairment that worsens over time. Some affected individuals have rapid and involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus). Development of motor skills, such as walking, is often delayed in people with Costeff syndrome.
    • 3-Methylglutaconic Aciduria Type 3 Orphanet
      3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria. Epidemiology The vast majority of reported cases involved the Iraqi-Jewish population, in which the prevalence of the disorder has been estimated at around 1 in 10 000. Clinical description Onset of the optic atrophy occurs during infancy with a progressive decrease in visual acuity. The choreoathetoid movement disorder manifests later, usually within the first ten years of life. Other clinical features may include spastic paraparesis, mild ataxia and cognitive deficit, dysarthria, and nystagmus.
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