Женетикалық аурулар мен мутациялар туралы мәліметтер жинағы

Кіріспе

Жоқ, төменде генетикалық аурулардың тізімі келтірілген, және белгілі болған жағдайда, мутацияның түрі мен қатысты хромосома туралы ақпарат берілген. "Ауру тудыратын ген" деген терминология жиі қолданылса да, балаға қателік дамуына себеп болатыны – ата-аналардағы аномалиялардың болуы. Адамдарда 6 мыңнан астам генетикалық ауру белгілі.

Генетикалық аурулардың толық тізімі

БұзылысХромосома немесе генТүрі СілтемеПревалентность1p36 жойылған синдромы 1 D 1:7,5001q21.1 жойылған синдромы1q21.1D2q37 жойылған синдромы2q37D5q жойылған синдромы5qD5,10 метилтетрагидрофолат синтетаза тапшылығыMTHFS7p22.1 микродупликация синдромы7p22.117q12 микрожойылған синдромы17q12 1:14,000 62,50017q12 микродупликация синдромы17q12 18p жойылған синдромы 18p D 1:50,000 21 гидроксилаза тапшылығы 6p21.3 рецессивті 1:15,000 Альфа 1 антитрипсин тапшылығы14q32 ко-доминантты, 1:2,500 5,000AAA синдромы (ахалазия–аддисонизм–алакрима синдромы)AAASрецессивті 1:1,000,000Аарског–Скотт синдромыFGD1X байланысты рецессивті 1:25,000ABCD синдромыEDNRB рецессивті 1:18,000 20,000Аяқ катарактасының жоқтығы синдромы АцерулоплазминемияCP (3p26.3) рецессивті 1:2,000,000АхейроподияLMBR1рецессивті Ахондрогенез I типCOL2A1 (12q13.11)доминантты 1:40,000 60,000 Ахондроплазия FGFR3 (4p16.3) доминантты 1:27,500 Жедел аралық порфирия HMBS доминантты және рецессивті формалары 1:500 50,000 Аденилосукцинат лиаза тапшылығы ADSL рецессивті Адренолейкодистрофия ABCD1 (X) рецессивті 1:17,000 Алажил синдромы JAG1, NOTCH2 доминантты 1:30,000 50,000ADULT синдромыTP63доминантты Аикарди–Гутьер синдромы TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1 1:19,500,000 Альбинизм 1:18,000 20,000 Александр ауруы GFAP 1:15,600,000Алфи синдромы9pмоносомия1:50,000 Алкаптонурия HGD 1:250,000 1,000,000 Альпорт синдромы 10q26.13 COL4A3, COL4A4, және COL4A5 1:5,000 10,000Балалық шақта ауыспалы гемиплегияATP1A3 1:1,000,000Аорта дугасының аномалиясы ерекше бет әлпеті зиякерлік мүгеделікдоминантты Амиш өлімді микроцефалиясыSLC25A19рецессивті Амиотрофиялық склероз – Фронтотемпоральды деменцияC9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPT 1:100,000Бұрышталған фаланго эпифизеальды дисплазияGDF5доминантты Альстрем синдромы ALMS1 1:8,600,000 Альцгеймер ауруы PSEN1, PSEN2, APP, APOEε4 1:177 Амелогенездің жетілмеуі 1:14,000Аминолевулиновая қышқыл дегидратаза тапшылығы порфириясыALAD 1:780,000,000 Андроген сезімталдығының жоқтығы синдромы 1:20,000 50,000 Ангельман синдромы UBE3A 1:12,000 20,000Афалангия синдромы дактилиясы микроцефалиясыдоминантты Аперт синдромыFGFR2 1:65,000 80,000 Артрогрипоз–бүйрек дисфункциясы–холестаз синдромы VPS33B 1:78,000,000 Атаксия телангиэктазиясы ATM 1:40,000 1,000,000Акценфельд синдромыPITX2, FOXO1A, FOXC1, PAX6 1:200,000Бейнбридж–Роперс синдромыASXL3 de novo Беар–Стивенсон кутис гирата синдромы 10q26, FGFR2 1:390,000,000Беквит–Видеман синдромы IGF 2, CDKN1C, H19, KCNQ1OT1 1:15,000 Бенджамин синдромы 1:20,000,000 Биотинидаза тапшылығы BTD 1:110,000,000Бьернстад синдромыBCS1L 1:260,000,000Блефарофимоз зиякерлік мүгеделік синдромдары Блум синдромы 15q26.1 1:480,000 Бирт–Хогг–Дубе синдромы 17 FLCN 1:19,500,000Броди миопатиясыATP2A1 1:10,000,000Бруннер синдромыMAOA 1:500,000,000 CADASIL синдромы NOTCH3 P 1:156,000,000Мысық көз синдромы221:74,000CRASIL синдромыHTRA1 1:156,000,000 Жүйелі гранулематоздық бұзылыс 1:200,000 Кампомелик дисплазиясы X 17q24.3–q25.1 C 1:40,000 200,000Камптодактилия тауринурия синдромыдоминантты Канаван ауруы ASPA 1:6,400 13,500Карпентер синдромыRAB23 1:1,000,000 CDKL5 тапшылық бұзылысы CDKL5 1:40,000 60,000Таңдаулы таңдаулы тілдік синдромы Combined malonic and methylmalonic aciduria (CMAMMA)ACSF3рецессивті1:30,000 1:100,000 Шарко–Мари–Тут ауруы PMP22, MFN2 1:2,500CHARGE синдромы CHD7 1:8,500 10,000 Хедіак–Хигаши синдромы LYSTрецессивті 1:39,000,000Хондродисплазия, Гребе типіGDF5автосомдық рецессивті Клидокраниальды дизостозRUNX2 1:7,800 Коккейн синдромы ERCC6, ERCC8 1:2,600 3,900 Коффин–Лоури синдромы X RPS6KA3 1:40,000 50,000 Коэн синдромы COH1 1:7,800,000 Коллагенопатия, II және XI типтері COL11A1, COL11A2, COL2A1Туа біткен ауырсызда сезімталдық және ангидроз (CIPA)NTRK1Туа біткен бұлшық дистрофиясыкөптегендоминантты немесе рецессивті Мүйізді қабықша дистрофиясы сезімталдық есту қабілетінің жоқтығы синдромыSLC4A11автосомдық рецессивті Корнелия де Ланж синдромы (CDLS)HDAC8, SMC1A, NIPBL, SMA3, RAD211:10,000 30,000Коуден синдромыPTEN1:200,000 CPO тапшылығы (копропорфирия) CPOX Бас сүйек линтикула тігіс дисплазиясы14q13–q21 Кри ду ша 5p15.2 D 1:37,000 50,000 Крон ауруы 16q12 P Краузон синдромыFGFR2, FGFR31.6:100,000 Краузондермоскелеттік синдром (Краузон синдромы акантозды қарамен бірге) FGFR31:1,000,000Куррарино синдромыHLXB9доминантты1:100,000Дариер ауруыATP2A21:30,000 100,000 Дент ауруы (генетикалық гиперкальциурия) Xp11.22 CLCN5, OCRLDenys–Drash синдромыWT1Де Груши синдромы 18q DДолихонихияДаун синдромы21C1:1,000 1,1001:1,200 (АҚШ)ДиДжордж синдромы 22q11.2 D1:4,000Алыс мұралық моторлық невропатиялар, көптеген типтері HSPB8, HSPB1, HSPB3, GARS, REEP1, IGHMBP2, SLC5A7, DCTN1, TRPV4, SIGMAR1Алыс бұлшық дистрофиясыДисферлин, TIA1, GNE (ген), MYH7, Титин, MYOT, MATR3, белгісізДоминантты немесе рецессивті Дюшен бұлшық дистрофиясыДисторофинX байланысты рецессивті Дравет синдромыSCN1A, SCN2A1:20,000 40,000Эктодактилия полидактилия синдромыЭдвардс синдромы18трисомия1:5,000 Элерс–Данлос синдромыCOL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB, ADAMTS2, PLOD1, B4GALT7, DSEдоминантты1:5,000Эмануэль синдромы11, 22жартылай трисомия Эмери–Дрейфус синдромыEMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43Эпидермолиз бульбозаKRT5, KRT14, DSP, PKP1, JUP, PLEC1, DST, EXPH5, TGM5, LAMA3, LAMB3, LAMC2, COL17A1, ITGA6, ITGA4, ITGA3, COL7A1, FERMT1доминантты немесе рецессивті 11.08:1,000,000Эритропоэтикалық протопорфирияFECH1:75,000 200,000Фанкони анемиясы (FA)FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, FANCN, FANCP, FANCS, RAD51C, XPF1:130,000 Фабри ауруыGLA (Xq22.1) P1:117,000 476,000 Фактор V Лейден тромбофилиясы Фатальды отбасылық ұйқысыздықPRNPдоминантты Отбасылық аденомалық полипозAPC1:10,000 15,000 Отбасылық дисавтономияIKBKAPОтбасылық Крейтцфельд–Якоб ауруыPRNPдоминанттыОтбасылық эпизодтық ауырсыну синдромыTRPA1, SCN10A, SCN11AдоминанттыОтбасылық торакалық аорта аневризмасы және аорта диссекциясыFOXE3, SMAD2, LOX, MAT2A, ELN, HEY2, TGFB3, TGFBR1, TGFBR2, FBN1, ACTA2, MYLK, SMAD3, PRKG1, MFAP5, TGFB2, SMAD4, MYH11доминанттыФейнгольд синдромыMYCN FG синдромыMED12FBXW7 нейро даму синдромы FBXW7 Фибулярлық аплазия эктодактилия синдромыдоминанттыЖақсы Любинский синдромыMAFrecessive Фрагильді Х синдромыFMR1T1:4,000 еркектер1:8,000 әйелдерФридрих атаксиясыFXNT1:50,000 (АҚШ) G6PD тапшылығы ГалактоземияGALT, GALK1, GALEГоше ауруыGBA (1)1:20,000Герстманн–Штраусс–Шейнкер синдромыPRNPдоминанттыЖиллеспи синдромыPAX6Глутарил қышқылының некрозы, I және II типтеріGCDH, ETFA, ETFB, ETFDHрецессивтіGRACILE синдромыBCS1LGRIN2B байланысты нейро даму синдромыGRIN2B Гризелли синдромыMYO5A, RAB27A, MLPHГуставсон синдромыХейли–Хейли ауруыATP2C1 (3) Харлекин типінің ихтиозыABCA12Гемохроматоз I типіHFE (6-шы хромосома) рецессивті.1:200 (Солтүстік Еуропа), 1:300 (Солтүстік Америка)Гемохроматоз II типіAHJV (немесе HFE2A) (1-ші хромосома) рецессивті Гемохроматоз II типіBHAMP (немесе HFE2B) (19-шы хромосома) рецессивтіГемохроматоз III типіTFR2 (немесе HFE3) (7-ші хромосома) рецессивтіГемохроматоз IV типіSLC40A1 (немесе HFE4) (2-ші хромосома) доминанттыГемохроматоз V типіFTH1 (11-ші хромосома) доминантты ГемофилияFVIII1:7,500 еркектер (гемофилия A)1:40,000 еркектер (гемофилия B) Гепатоэритропоэтикалық порфирияUROD Мұралық копропорфирия 3q12 P Мұралық геморрагиялық телеангиэктазия (Ослер–Вебер–Ренду синдромы) ENG, ACVRL1, MADH4 1:5,000 Мұралық көптеген экзостоздерEXT1, EXT2, EXT31:50,000 Мұралық спастикалық параплегия (балалық жастағы жоғарылаған мұралық спастикалық паралич) AP4M1, AP4S1, AP4B1, AP4E1автосомдық доминантты, автосомдық рецессивті немесе X байланысты рецессивті2 6:100,000 Германски–Пудляк синдромыHPS1, HPS3, HPS4, HPS5, HPS6, HPS7, AP3B11:500,000 Мұралық нейропатия қысымға бейімділікке (HNPP) PMP22ГетеротаксияNODAL, NKX2 5, ZIC3, CCDC11, CFC1, SESN1 ГомоцистинурияCBS (ген)рецессивті Хантингтон ауруы4-ші хромосома HTT геніавтосомдық доминантты 1:10,000 АҚШ Хантер синдромы...

DisorderChromosome or geneTypeReferencePrevalence 1p36 deletion syndrome 1 D 1:7,5001q21.1 deletion syndrome1q21.1D2q37 deletion syndrome2q37D5q deletion syndrome5qD5,10 methenyltetrahydrofolate synthetase deficiencyMTHFS7p22.1 microduplication syndrome7p22.117q12 microdeletion syndrome17q12 1:14,000 62,50017q12 microduplication syndrome17q12 18p deletion syndrome 18p D 1:50,000 21 hydroxylase deficiency 6p21.3 recessive 1:15,000 Alpha 1 antitrypsin deficiency14q32co dominant, 1:2,500 5,000AAA syndrome (achalasia–addisonianism–alacrima syndrome)AAASrecessive 1:1,000,000Aarskog–Scott syndromeFGD1X linked recessive 1:25,000ABCD syndromeEDNRB recessive 1:18,000 20,000Absence deformity of leg cataract syndrome AceruloplasminemiaCP (3p26.3) recessive 1:2,000,000AcheiropodiaLMBR1recessive Achondrogenesis type IICOL2A1 (12q13.11)dominant 1:40,000 60,000 Achondroplasia FGFR3 (4p16.3) dominant 1:27,500 Acute intermittent porphyria HMBS dominant and recessive forms 1:500 50,000 Adenylosuccinate lyase deficiency ADSL recessive Adrenoleukodystrophy ABCD1 (X) recessive 1:17,000 Alagille syndrome JAG1, NOTCH2 dominant 1:30,000 50,000ADULT syndromeTP63dominantAicardi–Goutières syndrome TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1 1:19,500,000 Albinism 1:18,000 20,000 Alexander disease GFAP 1:15,600,000Alfi's syndrome9pmonosomy1:50,000 Alkaptonuria HGD 1:250,000 1,000,000 Alport syndrome 10q26.13 COL4A3, COL4A4, and COL4A5 1:5,000 10,000Alternating hemiplegia of childhoodATP1A3 1:1,000,000Aortic arch anomaly peculiar facies intellectual disabilitydominantAmish lethal microcephalySLC25A19recessive Amyotrophic lateral sclerosis – Frontotemporal dementiaC9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPT 1:100,000Angel shaped phalango epiphyseal dysplasiaGDF5dominant Alström syndrome ALMS1 1:8,600,000 Alzheimer's disease PSEN1, PSEN2, APP, APOEε4 1:177 Amelogenesis imperfecta 1:14,000Aminolevulinic acid dehydratase deficiency porphyriaALAD 1:780,000,000 Androgen insensitivity syndrome 1:20,000 50,000 Angelman syndrome UBE3A 1:12,000 20,000Aphalangy syndactyly microcephaly syndromedominantApert syndromeFGFR2 1:65,000 80,000 Arthrogryposis–renal dysfunction–cholestasis syndrome VPS33B 1:78,000,000 Ataxia telangiectasia ATM 1:40,000 1,000,000Axenfeld syndromePITX2, FOXO1A, FOXC1, PAX6 1:200,000Bainbridge–Ropers syndromeASXL3 de novo Beare–Stevenson cutis gyrata syndrome 10q26, FGFR2 1:390,000,000Beckwith–Wiedemann syndrome IGF 2, CDKN1C, H19, KCNQ1OT1 1:15,000 Benjamin syndrome 1:20,000,000 biotinidase deficiency BTD 1:110,000,000Björnstad syndromeBCS1L 1:260,000,000Blepharophimosis intellectual disability syndromes Bloom syndrome 15q26.1 1:480,000 Birt–Hogg–Dubé syndrome 17 FLCN 1:19,500,000Brody myopathyATP2A1 1:10,000,000Brunner syndromeMAOA 1:500,000,000 CADASIL syndrome NOTCH3 P 1:156,000,000Cat eye syndrome221:74,000CRASIL syndromeHTRA1 1:156,000,000 Chronic granulomatous disorder 1:200,000 Campomelic dysplasia X 17q24.3–q25.1 C 1:40,000 200,000Camptodactyly taurinuria syndromedominant Canavan disease ASPA 1:6,400 13,500Carpenter syndromeRAB23 1:1,000,000 CDKL5 deficiency disorder CDKL5 1:40,000 60,000Cleft palate short stature vertebral anomalies syndromeCombined malonic and methylmalonic aciduria (CMAMMA)ACSF3recessive1:30,000 1:100,000 Charcot–Marie–Tooth disease PMP22, MFN2 1:2,500CHARGE syndrome CHD7 1:8,500 10,000 Chédiak–Higashi syndrome LYSTrecessive 1:39,000,000Chondrodysplasia, Grebe typeGDF5autosomal recessiveCleidocranial dysostosisRUNX2 1:7,800 Cockayne syndrome ERCC6, ERCC8 1:2,600 3,900 Coffin–Lowry syndrome X RPS6KA3 1:40,000 50,000 Cohen syndrome COH1 1:7,800,000 Collagenopathy, types II and XI COL11A1, COL11A2, COL2A1Congenital insensitivity to pain with anhidrosis (CIPA)NTRK1Congenital muscular dystrophymultipledominant or recessiveCorneal dystrophy perceptive deafness syndromeSLC4A11autosomal recessiveCornelia de Lange syndrome (CDLS)HDAC8, SMC1A, NIPBL, SMA3, RAD211:10,000 30,000Cowden syndromePTEN1:200,000 CPO deficiency (coproporphyria) CPOX Cranio lenticulo sutural dysplasia14q13–q21 Cri du chat 5p15.2 D 1:37,000 50,000 Crohn's disease 16q12 P Crouzon syndromeFGFR2, FGFR31.6:100,000 Crouzonodermoskeletal syndrome (Crouzon syndrome with acanthosis nigricans) FGFR31:1,000,000Currarino syndromeHLXB9dominant1:100,000Darier's diseaseATP2A21:30,000 100,000 Dent's disease (Genetic hypercalciuria) Xp11.22 CLCN5, OCRLDenys–Drash syndromeWT1De Grouchy syndrome 18q DDolichonychiaDown syndrome21C1:1,000 1,1001:1,200 (U. S.)DiGeorge syndrome 22q11.2 D1:4,000Distal hereditary motor neuropathies, multiple types HSPB8, HSPB1, HSPB3, GARS, REEP1, IGHMBP2, SLC5A7, DCTN1, TRPV4, SIGMAR1Distal muscular dystrophyDysferlin, TIA1, GNE (gene), MYH7, Titin, MYOT, MATR3, unknownDominant or recessiveDuchenne muscular dystrophyDystrophinX linked recessiveDravet syndromeSCN1A, SCN2A1:20,000 40,000Ectrodactyly polydactyly syndromeEdwards syndrome18trisomy1:5,000 Ehlers–Danlos syndromeCOL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB, ADAMTS2, PLOD1, B4GALT7, DSEdominant1:5,000Emanuel syndrome11, 22partial trisomyEmery–Dreifuss syndromeEMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43Epidermolysis bullosaKRT5, KRT14, DSP, PKP1, JUP, PLEC1, DST, EXPH5, TGM5, LAMA3, LAMB3, LAMC2, COL17A1, ITGA6, ITGA4, ITGA3, COL7A1, FERMT1dominant or recessive 11.08:1,000,000Erythropoietic protoporphyriaFECH1:75,000 200,000Fanconi anemia (FA)FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, FANCN, FANCP, FANCS, RAD51C, XPF1:130,000 Fabry diseaseGLA (Xq22.1) P1:117,000 476,000 Factor V Leiden thrombophilia Fatal familial insomniaPRNPdominant Familial adenomatous polyposisAPC1:10,000 15,000 Familial dysautonomiaIKBKAPFamilial Creutzfeld–Jakob diseasePRNPdominantFamilial episodic pain syndromeTRPA1, SCN10A, SCN11AdominantFamilial thoracic aortic aneurysm and aortic dissectionFOXE3, SMAD2, LOX, MAT2A, ELN, HEY2, TGFB3, TGFBR1, TGFBR2, FBN1, ACTA2, MYLK, SMAD3, PRKG1, MFAP5, TGFB2, SMAD4, MYH11dominantFeingold syndromeMYCN FG syndromeMED12FBXW7 neurodevelopmental syndrome FBXW7 Fibular aplasia ectrodactyly syndromedominantFine Lubinsky syndromeMAFrecessiveFragile X syndromeFMR1T1:4,000 males
1:8,000 femalesFriedreich's ataxiaFXNT1:50,000 (U. S.) G6PD deficiency GalactosemiaGALT, GALK1, GALEGaucher diseaseGBA (1)1:20,000Gerstmann–Sträussler–Scheinker syndromePRNPdominantGillespie syndromePAX6Glutaric aciduria, type I and type 2GCDH, ETFA, ETFB, ETFDHrecessiveGRACILE syndromeBCS1LGRIN2B related neurodevelopmental disorderGRIN2B Griscelli syndromeMYO5A, RAB27A, MLPHGustavson syndromeHailey–Hailey diseaseATP2C1 (3) Harlequin type ichthyosisABCA12Hemochromatosis type 1HFE (chromosome 6) recessive.1:200 (Northern Europe), 1:300 (Northern America)Hemochromatosis type 2AHJV (or HFE2A) (chromosome 1) recessive Hemochromatosis type 2BHAMP (or HFE2B) (chromosome 19) recessiveHaemochromatosis type 3TFR2 (or HFE3) (chromosome 7) recessiveHemochromatosis type 4SLC40A1 (or HFE4) (chromosome 2) dominantHemochromatosis type 5FTH1 (chromosome 11) dominant HemophiliaFVIII1:7,500 males (hemophilia A)
1:40,000 males (hemophilia B) Hepatoerythropoietic porphyriaUROD Hereditary coproporphyria 3q12 P Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) ENG, ACVRL1, MADH4 1:5,000 Hereditary inclusion body myopathyGNE, MYHC2A, VCP, HNRPA2B1, HNRNPA1 Hereditary multiple exostosesEXT1, EXT2, EXT31:50,000 Hereditary spastic paraplegia (infantile onset ascending hereditary spastic paralysis) AP4M1, AP4S1, AP4B1, AP4E1autosomal dominant, autosomal recessive or X linked recessive2 6:100,000 Hermansky–Pudlak syndromeHPS1, HPS3, HPS4, HPS5, HPS6, HPS7, AP3B11:500,000 Hereditary neuropathy with liability to pressure palsies (HNPP) PMP22HeterotaxyNODAL, NKX2 5, ZIC3, CCDC11, CFC1, SESN1 HomocystinuriaCBS (gene)recessiveHuntington's diseasechromosome 4 HTT geneautosomal dominant 1:10,000 in US Hunter syndromeIDS1:100,000 150,000 malesHurler syndromeIDUA1:100,000Hutchinson–Gilford progeria syndromeLMNA1:18,000,000HyperlysinemiaAASSrecessive Hyperoxaluria, primaryAGXT, GRHPR, DHDPSL Hyperphenylalaninemia12qHypoalphalipoproteinemia (Tangier disease)ABCA1 HypochondrogenesisCOL2A1 HypochondroplasiaFGFR3 (4p16.3) Immunodeficiency–centromeric instability–facial anomalies syndrome (ICF syndrome) 20q11.2 Incontinentia pigmentiIKBKG (Xq28) PInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyMED17recessive Ischiopatellar dysplasiaTBX4 dominant Isodicentric 15 15q11–14 Inv dup 1:30,000 PRICKLE1 related progressive myoclonus epilepsy with ataxiaPRICKLE1dominant or recessive Jackson–Weiss syndromeFGFR2Jacobsen syndrome111:100,000 Joubert syndromeINPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, TMEM138, TCTN3, ZNF423, AMRC9Juvenile onset dystoniaACTB, IMPDH2dominant Juvenile primary lateral sclerosis (JPLS) ALS2 Keloid disorder KIF1A Associated neurological disorderKIF1A (2q37.3)Dominant negativeKleefstra syndrome9q34D Kniest dysplasiaCOL2A11:1,000,000 Kosaki overgrowth syndromePDGFRB Krabbe diseaseGALC1:100,000Kufor–Rakeb syndromeATP13A2LCAT deficiencyLCATLesch–Nyhan syndromeHPRT (X) 1:380,000Li–Fraumeni syndromeTP53Limb Girdle Muscular DystrophyMultipledominant or recessive1:14,500 123,000Lynch syndromeMSH2, MLH1, MSH6, PMS2, PMS1, TGFBR2, MLH31:279lipoprotein lipase deficiency recessive1:1,000,000 Malignant hyperthermiaRYR1 (19q13.2) dominant1:5,000 100,000Maple syrup urine diseaseBCKDHA, BCKDHB, DBT, DLDrecessive Marfan syndrome 15q dominant1:5,000 10,000Maroteaux–Lamy syndromeARSBrecessive1:43,261 1,505,160 McCune–Albright syndrome 20 q13.2–13.31:100,000 1,000,000McLeod syndromeXK (X)0.5 1:100,000 MEDNIK syndromeAP1S1 D Mediterranean fever, familialMEFV Menkes diseaseATP7A (Xq21.1) 1:100,000 250,000Methemoglobinemia Methylmalonic acidemiaMMAA, MMAB, MMACHC, MMADHC, LMBRD1, MUTrecessive1:48,000 Micro syndromeRAB3GAP (2q21.3) MicrocephalyASPM (1q31) PMiller Dieker syndrome17p13.3 D1:100,000Morquio syndromeGALNS, GLB11:200,000 300,000 Mowat–Wilson syndromeZEB2 (2) Muenke syndromeFGFR31:30,000 Multiple endocrine neoplasia type 1 (Wermer's syndrome) MEN1dominantMultiple endocrine neoplasia type 2RETdominantMuscular dystrophymultipleAR, AD, X linked Muscular dystrophy, Duchenne and Becker type Myostatin related muscle hypertrophyMSTN Myotonic dystrophyDMPK, CNBPdominant or T1:8,000Natowicz syndromeHYAL1<1:1,000,000 Neurofibromatosis type I 17q11.2 Neurofibromatosis type II NF2 (22q12.2) Niemann–Pick diseaseSMPD1, NPA, NPB, NPC1, NPC21:250,000 (types A and B)
1:150,000 (type C)Nonketotic hyperglycinemiaGLDC, AMT, GCSH recessive1:60,000 Nonsyndromic deafness Noonan syndromePTPN11, KRAS, SOS1, RAF1, NRAS, HRAS, BRAF, SHOC2, MAP2K1, MAP2K2, CBLdominant1:1,000Norman–Roberts syndromeRELNrecessiveOgden syndrome X POmenn syndromeRAG1, RAG2recessive Osteogenesis imperfectaCOL1A1, COL1A2, IFITM5dominant1:15,000 20,000Ostravik Lindemann Solberg syndrome2p15autosomal recessive Pantothenate kinase associated neurodegenerationPANK2 (20p13–p12.3) recessive1 3:1,000,000 Patau syndrome (Trisomy 13) 13 trisomyPCC deficiency (propionic acidemia) PC recessive1:250,000 Porphyria cutanea tarda (PCT) URODdominant1:10,000 Pendred syndromePDS (7) recessive Peutz–Jeghers syndromeSTK11dominant1:25,000 300,000 Pfeiffer syndromeFGFR1, FGFR2dominant1:100,000Phelan McDermid syndrome22q13 D PhenylketonuriaPAH recessive1:12,000Pipecolic acidemiaAASDHPPTrecessivePitt–Hopkins syndromeTCF4 (18)dominant, de novo1:11,000 41,000 Polycystic kidney diseasePKD1 (16) or PKD2 (4) P Polycystic ovary syndrome (PCOS) Porphyria 1 100:50,000 Prader–Willi syndrome15paternal imprinting1:10,000 30,000 Primary ciliary dyskinesia (PCD) DNAI1, DNAH5, TXNDC3, DNAH11, DNAI2, KTU, RSPH4A, RSPH9, LRRC50 recessive1:32,000 Primary pulmonary hypertension Protein C deficiencyPROC dominant1:20,000 Protein S deficiencyPROS1dominantProximal 18q deletion syndrome18qD Pseudo Gaucher disease Pseudoxanthoma elasticumABCC6recessive1:25,000Retinitis pigmentosaRP1, RP2, RPGR, PRPH2, IMPDH1, PRPF31, CRB1, PRPF8, TULP1, CA4, HPRPF3, ABCA4, EYS, CERKL, FSCN2, TOPORS, SNRNP200, PRCD, NR2E3, MERTK, USH2A, PROM1, KLHL7, CNGB1, TTC8, ARL6, DHDDS, BEST1, LRAT, SPARA7, CRXdominant or recessive1:4,000 Rett syndromeMECP2dominant, often de novo1:8,500 femalesRoberts syndromeESCO2recessive Rubinstein–Taybi syndrome (RSTS) CREBBPdominant1:125,000 300,000 Sandhoff diseaseHEXB recessiveSanfilippo syndromeSGSH, NAGLU, HGSNAT, GNS1:70,000Scheuermann's disease1q21 q22 or 7q22autosomal dominant1:45 Schwartz–Jampel syndromeHSPG2recessiveSjogren Larsson syndromeALDH3A2Autosomal recessive, , Skin fragility woolly hair palmoplantar keratoderma syndromeDSP Spondyloepiphyseal dysplasia congenita (SED) COL2A1dominant Shprintzen–Goldberg syndromeFBN1 dominant Sickle cell anemia 11p15 P Siderius X linked mental retardation syndromePHF8 X Linked RecessiveSideroblastic anemiaABCB7, SLC25A38, GLRX5recessiveSly syndromeGUSBrecessive1:250,000Smith–Lemli–Opitz syndromeDHCR7recessive1:20,000 60,000 Smith–Magenis syndrome17p11.2 dominant1:15,000 25,000 Snyder–Robinson syndromeXp21.3 p22.12 recessive<1:1,000,000 Spinal muscular atrophy5q1:10,000Spinocerebellar ataxia (types 1–29) ATXN1, ATXN2, ATXN3, PLEKHG4, SPTBN2, CACNA1A, ATXN7, ATXN8OS, ATXN10, TTBK2, PPP2R2B, KCNC3, PRKCG, ITPR1, TBP, KCND3, FGF14 dominant, recessive or TSplit hand split foot nystagmus syndromedominant SSB syndrome (SADDAN) FGFR3 dominantStargardt disease (macular degeneration)ABCA4, CNGB3, ELOVL4, PROM1dominant or recessive1 1.28:10,000 Stickler syndrome (multiple forms) COL11A1, COL11A2, COL2A1, COL9A1dominant or recessive1:7,500 9,000 (U. S.) Strudwick syndrome (spondyloepimetaphyseal dysplasia, Strudwick type) COL2A1dominantTay–Sachs diseaseHEXA (15) recessive Tetrahydrobiopterin deficiencyGCH1, PCBD1, PTS, QDPR, MTHFR, DHFRrecessive Thanatophoric dysplasiaFGFR3dominant1:60,000Thickened earlobes conductive deafness syndrome Treacher Collins syndrome 5q32–q33.1 (TCOF1, POLR1C, or POLR1D) dominant1:50,000Tuberous sclerosis complex (TSC)TSC1, TSC2dominant7 12:100,000 Turner syndrome X monosomy 1:2,000 2,500 live female births Usher syndromeMYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1 recessive3 6:100,000 (type I) Variegate porphyriaPPOXdominantViljoen Kallis Voges syndromerecessive von Hippel–Lindau diseaseVHLdominant1:36,000 von Willebrand diseaseVWFdominant1:10,000 Waardenburg syndromePAX3, MITF, WS2B, WS2C, SNAI2, EDNRB, EDN3, SOX10 dominant1:42,000Warkany syndrome 28trisomy Weissenbacher–Zweymüller syndromeCOL11A2recessiveWeyer's ulnar ray/oligodactyly syndromerecessive Williams syndrome7q11.23 dominant 1:10,000Wilson diseaseATP7Brecessive1:30,000Woodhouse–Sakati syndromeC2ORF37 (2q22.3–q35) recessive Wolf–Hirschhorn syndrome 4p16.3 dominant, often de novo1:50,000 Xeroderma pigmentosum 15 ERCC4recessive X linked intellectual disability and macroorchidism (fragile X syndrome) X X linked spinal bulbar muscle atrophy (spinal and bulbar muscular atrophy) XXp11.2 duplication syndrome Xp11.2 D 1:1,000,000X linked severe combined immunodeficiency (X SCID) XX linked sideroblastic anemia (XLSA) ALAS2 (X)47,XXX (triple X syndrome)XC1:1,000 femalesXXXX syndrome (48, XXXX) X1:50,000 femalesXXXXX syndrome (49,XXXXX) X1:85,000 250,000 femalesXXXXY syndrome (49,XXXXY)X1:85,000 100,000 malesXYY syndrome (47,XYY)Y1:1,000 male birthsXXYY syndrome (48,XXYY)X, Y1:18,000 40,000 malesXYYY syndrome (48,XYYY)YXXXY syndrome (48,XXXY)X1:50,000 malesXYYYY syndrome (49,XYYYY)Y1:1,000,000 malesZellweger syndromePEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26recessive