[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/en\/wiki40\/list-of-genetic-disorders-wikipedia\/#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/en\/wiki40\/list-of-genetic-disorders-wikipedia\/","headline":"List of genetic disorders – Wikipedia","name":"List of genetic disorders – Wikipedia","description":"Disorder Chromosome or gene Type Reference Prevalence 1p36 deletion syndrome 1 D 1:7,500 1q21.1 deletion syndrome 1q21.1 D 2q37 deletion","datePublished":"2018-10-23","dateModified":"2018-10-23","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/en\/wiki40\/author\/lordneo\/#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/en\/wiki40\/author\/lordneo\/","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":100,"height":100},"url":"https:\/\/wiki.edu.vn\/en\/wiki40\/list-of-genetic-disorders-wikipedia\/","about":["Wiki"],"wordCount":6081,"articleBody":"DisorderChromosome or geneTypeReferencePrevalence1p36 deletion syndrome1D1:7,5001q21.1 deletion syndrome1q21.1D2q37 deletion syndrome2q37D5q deletion syndrome5qD5,10-methenyltetrahydrofolate synthetase deficiencyMTHFS[2]17q12 microdeletion syndrome17q12[3][4]1:14,000-62,50017q12 microduplication syndrome17q12[5]18p deletion syndrome18pD1:50,00021-hydroxylase deficiency6p21.3recessive1:15,000Alpha 1-antitrypsin deficiency14q32co-dominant,1:2,500-5,000AAA syndrome (achalasia\u2013addisonianism\u2013alacrima syndrome)AAASrecessive[6]1:1,000,000Aarskog\u2013Scott syndromeFGD1X-linked recessive1:25,000ABCD syndromeEDNRBrecessive1:18,000-20,000Absence deformity of leg-cataract syndromeAceruloplasminemiaCP (3p26.3)recessive1:2,000,000AcheiropodiaLMBR1recessiveAchondrogenesis type IICOL2A1 (12q13.11)dominant1:40,000-60,000achondroplasiaFGFR3 (4p16.3)dominant1:27,500Acute intermittent porphyriaHMBSdominant and recessive forms1:500-50,000Adenylosuccinate lyase deficiencyADSLrecessiveAdrenoleukodystrophyABCD1 (X)recessive1:17,000Alagille syndromeJAG1, NOTCH2dominant[7]1:30,000-50,000ADULT syndromeTP63dominantAicardi\u2013Gouti\u00e8res syndromeTREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH11:19,500,000Albinism1:18,000-20,000Alexander diseaseGFAP1:15,600,000Alfi’s syndrome9pmonosomy1:50,000alkaptonuriaHGD1:250,000-1,000,000Alport syndrome10q26.13 COL4A3, COL4A4, and COL4A51:5,000-10,000Alternating hemiplegia of childhoodATP1A31:1,000,000Aortic arch anomaly – peculiar facies – intellectual disabilitydominantAmish lethal microcephalySLC25A19recessiveAmyotrophic lateral sclerosis \u2013 Frontotemporal dementiaC9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPT1:100,000Angel-shaped phalango-epiphyseal dysplasiaGDF5dominantAlstr\u00f6m syndromeALMS11:8,600,000Alzheimer’s diseasePSEN1, PSEN2, APP, APOE\u03b541:177Amelogenesis imperfecta1:14,000Aminolevulinic acid dehydratase deficiency porphyriaALAD1:780,000,000Androgen insensitivity syndrome1:20,000-50,000Angelman syndromeUBE3A1:12,000-20,000Aphalangy-syndactyly-microcephaly syndromedominantApert syndromeFGFR21:65,000-80,000Arthrogryposis\u2013renal dysfunction\u2013cholestasis syndromeVPS33B1:78,000,000Ataxia telangiectasiaATM1:40,000-1,000,000Axenfeld syndromePITX2, FOXO1A, FOXC1, PAX61:200,000Bainbridge\u2013Ropers syndromeASXL3de novoBeare\u2013Stevenson cutis gyrata syndrome10q26, FGFR21:390,000,000Beckwith\u2013Wiedemann syndromeIGF-2, CDKN1C, H19, KCNQ1OT11:15,000Benjamin syndrome1:20,000,000biotinidase deficiencyBTD1:110,000,000Bj\u00f6rnstad syndromeBCS1L1:260,000,000Blepharophimosis intellectual disability syndromesBloom syndrome15q26.11:480,000Birt\u2013Hogg\u2013Dub\u00e9 syndrome17 FLCN1:19,500,000Brody myopathyATP2A11:10,000,000Brunner syndromeMAOA1:500,000,000CADASIL syndromeNOTCH3P1:156,000,000Cat eye syndrome221:74,000CRASIL syndromeHTRA11:156,000,000Chronic granulomatous disorder1:200,000Campomelic dysplasiaX 17q24.3\u2013q25.1C1:40,000-200,000Camptodactyly-taurinuria syndromedominantCanavan diseaseASPA1:6,400-13,500Carpenter SyndromeRAB231:1,000,000CDKL5 deficiency disorderCDKL5[8]1:40,000-60,000[8]Cerebral dysgenesis\u2013neuropathy\u2013ichthyosis\u2013keratoderma syndrome (CEDNIK)SNAP29"},{"@context":"http:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki40\/#breadcrumbitem","name":"Enzyklop\u00e4die"}},{"@type":"ListItem","position":2,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki40\/list-of-genetic-disorders-wikipedia\/#breadcrumbitem","name":"List of genetic disorders – Wikipedia"}}]}]