List of genetic disorders

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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.

Most common[edit]

Duchenne muscular dystrophy
A cherry red spot, which can be a feature of several storage disorders, including Tay–Sachs disease
Disorder Chromosome Mutation
Angelman syndrome 15 b DCP
Canavan disease 17p
Charcot–Marie–Tooth disease 17p12[1] Dup
Color blindness X P
Cri du chat syndrome 5 D
Cystic fibrosis 7q P
DiGeorge syndrome 22q D
Down syndrome 21 C
Duchenne muscular dystrophy Xp D
Familial hypercholesterolemia 19 P
Haemochromatosis type 1 6 P
Hemophilia X P
Klinefelter syndrome X C
Neurofibromatosis 17q/22q/?
Phenylketonuria 12q P
Polycystic kidney disease 16 (PKD1) or 4 (PKD2) P
Prader–Willi syndrome 15 DCP
Sickle cell disease 11p P
Spinal muscular atrophy 5q DP
Tay–Sachs disease 15 P
Turner syndrome X C

Full genetic disorders list[edit]

Disorder Chromosome or gene Type Reference Prevalence
1p36 deletion syndrome 1 D 1:7,500
1q21.1 deletion syndrome 1q21.1 D
2q37 deletion syndrome 2q37 D
5q deletion syndrome 5q D
5,10-methenyltetrahydrofolate synthetase deficiency MTHFS [2]
17q12 microdeletion syndrome 17q12 [3][4] 1:14,000-62,500
17q12 microduplication syndrome 17q12 [5]
18p deletion syndrome 18p D 1:50,000
21-hydroxylase deficiency 6p21.3 recessive 1:15,000
Alpha 1-antitrypsin deficiency 14q32 co-dominant, 1:2,500-5,000
AAA syndrome (achalasia–addisonianism–alacrima syndrome) AAAS recessive [6] 1:1,000,000
Aarskog–Scott syndrome FGD1 X-linked recessive 1:25,000
ABCD syndrome EDNRB recessive 1:18,000-20,000
Aceruloplasminemia CP (3p26.3) recessive 1:2,000,000
Acheiropodia LMBR1 recessive
Achondrogenesis type II COL2A1 (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 [7] 1:30,000-50,000
ADULT syndrome TP63 dominant
Aicardi–Goutières syndrome TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1 1:19,500,000
Albinism 1:18,000-20,000
Alexander disease GFAP 1:15,600,000
Alfi's syndrome 9p monosomy 1:50,000
alkaptonuria HGD 1:250,000-1,000,000
Alport syndrome 10q26.13 COL4A3, COL4A4, and COL4A5 1:5,000-10,000
Alternating hemiplegia of childhood ATP1A3 1:1,000,000
Amyotrophic lateral sclerosisFrontotemporal dementia C9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPT 1:100,000
Alström syndrome ALMS1 1:8,600,000
Alzheimer's disease PSEN1, PSEN2, APP, APOEε4 1:177
Amelogenesis imperfecta 1:14,000
Aminolevulinic acid dehydratase deficiency porphyria ALAD 1:780,000,000
Androgen insensitivity syndrome 1:20,000-50,000
Angelman syndrome UBE3A 1:12,000-20,000
Apert syndrome FGFR2 1:65,000-80,000
Arthrogryposis–renal dysfunction–cholestasis syndrome VPS33B 1:78,000,000
Ataxia telangiectasia ATM 1:40,000-1,000,000
Axenfeld syndrome PITX2, FOXO1A, FOXC1, PAX6 1:200,000
Beare–Stevenson cutis gyrata syndrome 10q26, FGFR2 1:390,000,000
Beckwith–Wiedemann syndrome IGF-2, CDKN1C, H19, KCNQ1OT1 1:15,000
Benjamin syndrome 1:20,000,000
biotinidase deficiency BTD 1:110,000,000
Björnstad syndrome BCS1L 1:260,000,000
Bloom syndrome 15q26.1 1:480,000
Birt–Hogg–Dubé syndrome 17 FLCN 1:19,500,000
Brody myopathy ATP2A1 1:10,000,000
Brunner syndrome MAOA 1:500,000,000
CADASIL syndrome NOTCH3 P 1:156,000,000
Cat eye syndrome 22 1:74,000
CRASIL syndrome HTRA1 1:156,000,000
Chronic granulomatous disorder 1:200,000
Campomelic dysplasia X 17q24.3–q25.1 C 1:40,000-200,000
Canavan disease ASPA 1:6,400-13,500
Carpenter Syndrome RAB23 1:1,000,000
CDKL5 deficiency disorder CDKL5 [8] 1:40,000-60,000[8]
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (CEDNIK) SNAP29 <1:1,000,000[9]
Cystic fibrosis CFTR (7q31.2) D or S [10] 1:100,000
Charcot–Marie–Tooth disease PMP22, MFN2 1:2,500
CHARGE syndrome CHD7 1:8,500-10,000
Chédiak–Higashi syndrome LYST recessive 1:39,000,000
Chondrodysplasia, Grebe type GDF5 autosomal recessive [11]
Cleidocranial dysostosis RUNX2 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, COL2A1
Congenital insensitivity to pain with anhidrosis (CIPA) NTRK1
Congenital Muscular Dystrophy multiple dominant or recessive [12]
Cornelia de Lange syndrome (CDLS) HDAC8, SMC1A, NIPBL, SMA3, RAD21 1:10,000-30,000
Cowden syndrome PTEN 1:200,000
CPO deficiency (coproporphyria) CPOX
Cranio-lenticulo-sutural dysplasia 14q13–q21
Cri du chat 5p15.2 D [13][14] 1:37,000-50,000
Crohn's disease 16q12 P
Crouzon syndrome FGFR2, FGFR3 1.6:100,000
Crouzonodermoskeletal syndrome (Crouzon syndrome with acanthosis nigricans) FGFR3 1:1,000,000
Currarino syndrome HLXB9 dominant 1:100,000
Darier's disease ATP2A2 1:30,000-100,000
Dent's disease (Genetic hypercalciuria) Xp11.22 CLCN5, OCRL
Denys–Drash syndrome WT1
De Grouchy syndrome 18q D
Down Syndrome 21 C 1:1,000-1,100
1:1,200 (U.S.)
DiGeorge syndrome 22q11.2 D 1:4,000
Distal hereditary motor neuropathies, multiple types HSPB8, HSPB1, HSPB3, GARS, REEP1, IGHMBP2, SLC5A7, DCTN1, TRPV4, SIGMAR1
Distal muscular dystrophy Dysferlin, TIA1, GNE (gene), MYH7, Titin, MYOT, MATR3, unknown Dominant or recessive [15]
Duchenne muscular dystrophy Dystrophin X-linked recessive [16]
Dravet syndrome SCN1A, SCN2A 1:20,000-40,000
Edwards Syndrome 18 trisomy 1:5,000
Ehlers–Danlos syndrome COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB, ADAMTS2, PLOD1, B4GALT7, DSE dominant 1:5,000
Emanuel syndrome 11, 22 partial trisomy
Emery–Dreifuss syndrome EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43
Epidermolysis bullosa KRT5, KRT14, DSP, PKP1, JUP, PLEC1, DST, EXPH5, TGM5, LAMA3, LAMB3, LAMC2, COL17A1, ITGA6, ITGA4, ITGA3, COL7A1, FERMT1 dominant or recessive [17][18] 11.08:1,000,000
Erythropoietic protoporphyria FECH 1:75,000-200,000
Fanconi anemia (FA) FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, FANCN, FANCP, FANCS, RAD51C, XPF 1:130,000
Fabry disease GLA (Xq22.1) P 1:117,000-476,000
Factor V Leiden thrombophilia
Fatal familial insomnia PRNP dominant
Familial adenomatous polyposis APC 1:10,000-15,000
Familial dysautonomia IKBKAP
Familial Creutzfeld–Jakob Disease PRNP dominant
Feingold syndrome MYCN
FG syndrome MED12
Fragile X syndrome FMR1 T 1:4,000 males

1:8,000 females

Friedreich's ataxia FXN T 1:50,000 (U.S.)
G6PD deficiency
Galactosemia GALT, GALK1, GALE
Gaucher disease GBA (1) 1:20,000
Gerstmann–Sträussler–Scheinker syndrome PRNP dominant
Gillespie syndrome PAX6
Glutaric aciduria, type I and type 2 GCDH, ETFA, ETFB, ETFDH recessive
GRACILE syndrome BCS1L
Griscelli syndrome MYO5A, RAB27A, MLPH
Hailey–Hailey disease ATP2C1 (3)
Harlequin type ichthyosis ABCA12
Hemochromatosis type 1 HFE (chromosome 6) recessive . 1:200 (Northern Europe), 1:300 (Northern America)
Hemochromatosis type 2A HJV (or HFE2A) (chromosome 1) recessive
Hemochromatosis type 2B HAMP (or HFE2B) (chromosome 19) recessive
Haemochromatosis type 3 TFR2 (or HFE3) (chromosome 7) recessive
Hemochromatosis type 4 SLC40A1 (or HFE4) (chromosome 2) dominant
Hemochromatosis type 5 FTH1 (chromosome 11) dominant
Hemophilia FVIII 1:7,500 males (hemophilia A)

1:40,000 males (hemophilia B)

Hepatoerythropoietic porphyria UROD
Hereditary coproporphyria 3q12 P
Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) ENG, ACVRL1, MADH4 1:5,000 [19]
Hereditary inclusion body myopathy GNE, MYHC2A, VCP, HNRPA2B1, HNRNPA1
Hereditary multiple exostoses EXT1, EXT2, EXT3 1:50,000
Hereditary spastic paraplegia (infantile-onset ascending hereditary spastic paralysis) AP4M1, AP4S1, AP4B1, AP4E1

autosomal dominant, autosomal recessive or X-linked recessive

2-6:100,000
Hermansky–Pudlak syndrome HPS1, HPS3, HPS4, HPS5, HPS6, HPS7, AP3B1 1:500,000
Hereditary neuropathy with liability to pressure palsies (HNPP) PMP22
Heterotaxy NODAL, NKX2-5, ZIC3, CCDC11, CFC1, SESN1
Homocystinuria CBS (gene) recessive [20]
Huntington's disease chromosome 4 HTT gene autosomal dominant 1:10,000 in USA
Hunter syndrome IDS 1:100,000-150,000 males
Hurler syndrome IDUA 1:100,000
Hutchinson–Gilford progeria syndrome LMNA 1:18,000,000
Hyperlysinemia AASS recessive
Hyperoxaluria, primary AGXT, GRHPR, DHDPSL
Hyperphenylalaninemia 12q
Hypoalphalipoproteinemia (Tangier disease) ABCA1
Hypochondrogenesis COL2A1
Hypochondroplasia FGFR3 (4p16.3)
Immunodeficiency–centromeric instability–facial anomalies syndrome (ICF syndrome) 20q11.2
Incontinentia pigmenti IKBKG (Xq28) P
Ischiopatellar dysplasia TBX4 dominant
Isodicentric 15 15q11–14 Inv dup 1:30,000 [21]
Jackson–Weiss syndrome FGFR2
Jacobsen syndrome 11 1:100,000
Joubert syndrome INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, TMEM138, TCTN3, ZNF423, AMRC9
Juvenile primary lateral sclerosis (JPLS) ALS2
Keloid disorder
KIF1A-Associated Neurological Disorder KIF1A (2q37.3) Dominant Negative
Kleefstra syndrome 9q34 D
Kniest dysplasia COL2A1 1:1,000,000
Kosaki overgrowth syndrome PDGFRB
Krabbe disease GALC 1:100,000
Kufor–Rakeb syndrome ATP13A2
LCAT deficiency LCAT
Lesch–Nyhan syndrome HPRT (X) 1:380,000
Li–Fraumeni syndrome TP53
Limb-Girdle Muscular Dystrophy Multiple dominant or recessive [22][23] 1:14,500-123,000
Lynch syndrome MSH2, MLH1, MSH6, PMS2, PMS1, TGFBR2, MLH3 1:279
lipoprotein lipase deficiency recessive 1:1,000,000
Malignant hyperthermia RYR1 (19q13.2) dominant 1:5,000-100,000
Maple syrup urine disease BCKDHA, BCKDHB, DBT, DLD recessive
Marfan syndrome 15 dominant 1:5,000-10,000
Maroteaux–Lamy syndrome ARSB recessive 1:43,261-1,505,160
McCune–Albright syndrome 20 q13.2–13.3 1:100,000-1,000,000
McLeod syndrome XK (X) 0.5-1:100,000
MEDNIK syndrome AP1S1 D [24][25]
Mediterranean fever, familial MEFV
Menkes disease ATP7A (Xq21.1) 1:100,000-250,000
Methemoglobinemia
Methylmalonic acidemia MMAA, MMAB, MMACHC, MMADHC, LMBRD1, MUT recessive 1:48,000
Micro syndrome RAB3GAP (2q21.3)
Microcephaly ASPM (1q31) P
Miller-Dieker syndrome 17p13.3 D 1:100,000
Morquio syndrome GALNS, GLB1 1:200,000-300,000
Mowat–Wilson syndrome ZEB2 (2)
Muenke syndrome FGFR3 1:30,000
Multiple endocrine neoplasia type 1 (Wermer's syndrome) MEN1 dominant
Multiple endocrine neoplasia type 2 RET dominant
Muscular dystrophy multiple AR, AD, X-linked
Muscular dystrophy, Duchenne and Becker type
Myostatin-related muscle hypertrophy MSTN
myotonic dystrophy DMPK, CNBP dominant or T 1:8,000
Natowicz syndrome HYAL1 <1:1,000,000
NEDAMSS NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES IRF2BPL(gene) 14q24.3
Neurofibromatosis type I 17q11.2
Neurofibromatosis type II NF2 (22q12.2)
Niemann–Pick disease SMPD1, NPA, NPB, NPC1, NPC2 1:250,000 (types A and B)

1:150,000 (type C)

Nonketotic hyperglycinemia GLDC, AMT, GCSH recessive 1:60,000
Nonsyndromic deafness
Noonan syndrome PTPN11, KRAS, SOS1, RAF1, NRAS, HRAS, BRAF, SHOC2, MAP2K1, MAP2K2, CBL dominant 1:1,000
Norman–Roberts syndrome RELN recessive
Ogden syndrome X P
Omenn syndrome RAG1, RAG2 recessive
Osteogenesis imperfecta COL1A1, COL1A2, IFITM5 dominant 1:15,000-20,000
Ostravik-Lindemann-Solberg syndrome 2p15 autosomal recessive [26]
Pantothenate kinase-associated neurodegeneration PANK2 (20p13–p12.3) recessive 1-3:1,000,000
Patau syndrome (Trisomy 13) 13 trisomy
PCC deficiency (propionic acidemia) PC recessive 1:250,000
Porphyria cutanea tarda (PCT) UROD dominant 1:10,000
Pendred syndrome PDS (7) recessive
Peutz–Jeghers syndrome STK11 dominant 1:25,000-300,000
Pfeiffer syndrome FGFR1, FGFR2 dominant 1:100,000
Phelan-McDermid syndrome 22q13 D
Phenylketonuria PAH recessive 1:12,000
Pipecolic acidemia AASDHPPT recessive
Pitt–Hopkins syndrome TCF4 (18) dominant, de novo 1:11,000-41,000
Polycystic kidney disease PKD1 (16) or PKD2 (4) P
Polycystic ovary syndrome (PCOS)
Porphyria 1-100:50,000
Prader–Willi syndrome 15 paternal imprinting 1:10,000-30,000
Primary ciliary dyskinesia (PCD) DNAI1, DNAH5, TXNDC3, DNAH11, DNAI2, KTU, RSPH4A, RSPH9, LRRC50 recessive 1:32,000
Primary pulmonary hypertension
Protein C deficiency PROC dominant [27] 1:20,000
Protein S deficiency PROS1 dominant
Proximal 18q deletion syndrome 18q D
Pseudo-Gaucher disease
Pseudoxanthoma elasticum ABCC6 recessive 1:25,000
Retinitis pigmentosa RP1, 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, CRX dominant or recessive 1:4,000
Rett syndrome MECP2 dominant, often de novo 1:8,500 females
Roberts syndrome ESCO2 recessive
Rubinstein–Taybi syndrome (RSTS) CREBBP dominant 1:125,000-300,000
Sandhoff disease HEXB recessive
Sanfilippo syndrome SGSH, NAGLU, HGSNAT, GNS 1:70,000
Schwartz–Jampel syndrome HSPG2 recessive
Sjogren-Larsson syndrome ALDH3A2 Autosomal-recessive [1], [2],[3]
Spondyloepiphyseal dysplasia congenita (SED) COL2A1 dominant
Shprintzen–Goldberg syndrome FBN1 dominant
Sickle cell anemia 11p15 P
Siderius X-linked mental retardation syndrome PHF8 X-Linked Recessive

[28]

Sideroblastic anemia ABCB7, SLC25A38, GLRX5 recessive
Sly syndrome GUSB recessive 1:250,000
Smith–Lemli–Opitz syndrome DHCR7 recessive 1:20,000-60,000
Smith–Magenis syndrome 17p11.2 dominant 1:15,000-25,000
Snyder–Robinson syndrome Xp21.3-p22.12 recessive <1:1,000,000
Spinal muscular atrophy 5q 1:10,000
Spinocerebellar ataxia (types 1–29) ATXN1, ATXN2, ATXN3, PLEKHG4, SPTBN2, CACNA1A, ATXN7, ATXN8OS, ATXN10, TTBK2, PPP2R2B, KCNC3, PRKCG, ITPR1, TBP, KCND3, FGF14 dominant, recessive or T
SSB syndrome (SADDAN) FGFR3 dominant
Stargardt disease (macular degeneration) ABCA4, CNGB3, ELOVL4, PROM1 dominant or recessive 1-1.28:10,000
Stickler syndrome (multiple forms) COL11A1, COL11A2, COL2A1, COL9A1 dominant or recessive 1:7,500-9,000 (U.S.)
Strudwick syndrome (spondyloepimetaphyseal dysplasia, Strudwick type) COL2A1 dominant
Tay–Sachs disease HEXA (15) recessive
Tetrahydrobiopterin deficiency GCH1, PCBD1, PTS, QDPR, MTHFR, DHFR recessive
Thanatophoric dysplasia FGFR3 dominant 1:60,000
Treacher Collins syndrome 5q32–q33.1 (TCOF1, POLR1C, or POLR1D) dominant 1:50,000
Tuberous sclerosis complex (TSC) TSC1, TSC2 dominant 7-12:100,000
Turner syndrome X monosomy 1:2,000-2,500 live female births
Usher syndrome MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1 recessive 3-6:100,000 (type I)
Variegate porphyria PPOX dominant
von Hippel–Lindau disease VHL dominant 1:36,000
von Willebrand disease VWF dominant 1:10,000
Waardenburg syndrome PAX3, MITF, WS2B, WS2C, SNAI2, EDNRB, EDN3, SOX10 dominant 1:42,000
Warkany syndrome 2 8 trisomy
Weissenbacher–Zweymüller syndrome COL11A2 recessive
Williams syndrome 7q11.23 dominant 1:10,000
Wilson disease ATP7B recessive 1:30,000
Woodhouse–Sakati syndrome C2ORF37 (2q22.3–q35) recessive
Wolf–Hirschhorn syndrome 4p16.3 dominant, often de novo 1:50,000
Xeroderma pigmentosum 15 ERCC4 recessive
X-linked intellectual disability and macroorchidism (fragile X syndrome) X
X-linked spinal-bulbar muscle atrophy (spinal and bulbar muscular atrophy) X
Xp11.2 duplication syndrome Xp11.2 D

[29]

1:1,000,000
X-linked severe combined immunodeficiency (X-SCID) X
X-linked sideroblastic anemia (XLSA) ALAS2 (X)
47,XXX (triple X syndrome) X C 1:1,000 females
XXXX syndrome (48, XXXX) X 1:50,000 females
XXXXX syndrome (49,XXXXX) X 1:85,000-250,000 females
XXXXY syndrome (49,XXXXY) X 1:85,000-100,000 males
XYY syndrome (47,XYY) Y 1:1,000 male births
XXYY syndrome (48,XXYY) X, Y 1:18,000-40,000 males
XYYY syndrome (48,XYYY) Y
XXXY syndrome (48,XXXY) X 1:50,000 males
XYYYY syndrome (49,XYYYY) Y 1:1,000,000 males
Zellweger syndrome PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26 recessive

References[edit]

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Further reading[edit]