List of genetic disorders

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search

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 disabilities to be created within the child.

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 17
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 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]

CDKL5 deficiency disorder
Disorder Chromosome or gene Type Reference Prevalence
1p36 deletion syndrome 1 D 1:7,500
17q12 microdeletion syndrome 17q12 [1][2] 1:14,000-62,500
17q12 microduplication syndrome 17q12 [3]
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
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 1:2,000
Acute intermittent porphyria HMBS dominant and recessive forms 1:500-50,000
adenylosuccinate lyase deficiency ADSL recessive 1:7,800,0000
Adrenoleukodystrophy ABCD1 (X) recessive 1:17,000
Alagille syndrome JAG1, NOTCH2 dominant [4] 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
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
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
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (SEDNIK) SNAP29 1:1,000,000,000
Cystic fibrosis CFTR (7q31.2) D or S [5] 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
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 [6]
Cornelia de Lange syndrome (CDLS) HDAC8, SMC1A, NIPBL, SMA3, RAD21
Cowden syndrome PTEN
CPO deficiency (coproporphyria) CPOX
Cranio-lenticulo-sutural dysplasia 14q13–q21
Cri du chat 5p D
Crohn's disease 16q12 P
Crouzon syndrome FGFR2, FGFR3
Crouzonodermoskeletal syndrome (Crouzon syndrome with acanthosis nigricans) FGFR3
Darier's disease ATP2A2
Dent's disease (Genetic hypercalciuria) Xp11.22 CLCN5, OCRL
Denys–Drash syndrome WT1
De Grouchy syndrome 18q D
Down Syndrome 21 C
Di George's syndrome 22q11.2 D
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 [7]
Duchenne muscular dystrophy Dystrophin X-linked recessive [8]
Dravet syndrome SCN1A, SCN2A
Edwards Syndrome 18 trisomy
Ehlers–Danlos syndrome COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB, ADAMTS2, PLOD1, B4GALT7, DSE dominant
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 [9][10] 11.08:1,000,000
Erythropoietic protoporphyria FECH
Fabry disease GLA (Xq22.1) P
Factor V Leiden thrombophilia
Fatal familial insomnia PRNP dominant
Familial adenomatous polyposis APC
Familial dysautonomia IKBKAP
Familial Creutzfeld–Jakob Disease PRNP dominant
Feingold syndrome MYCN
FG syndrome MED12
Fragile X syndrome FMR1 T
Friedreich's ataxia FXN


G6PD deficiency
Galactosemia GALT, GALK1, GALE
Gaucher disease GBA (1)
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, hereditary HFE, HAMP, HFE2B, TFR2, TF, CP
Hemophilia FVIII
Hepatoerythropoietic porphyria UROD
Hereditary coproporphyria 3q12 P
Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) ENG, ACVRL1, MADH4 1:5,000 [11]
Hereditary inclusion body myopathy GNE, MYHC2A, VCP, HNRPA2B1, HNRNPA1
Hereditary multiple exostoses EXT1, EXT2, EXT3
Hereditary spastic paraplegia (infantile-onset ascending hereditary spastic paralysis) AP4M1, AP4S1, AP4B1, AP4E1

autosomal dominant, autosomal recessive or X-linked recessive

Hermansky–Pudlak syndrome HPS1, HPS3, HPS4, HPS5, HPS6, HPS7, AP3B1
Hereditary neuropathy with liability to pressure palsies (HNPP) PMP22
Heterotaxy NODAL, NKX2-5, ZIC3, CCDC11, CFC1, SESN1
Homocystinuria CBS (gene) recessive [12]
Huntington's disease chromosome 4 HTT gene autosomal dominant [ 1:10,000 USA ]
Hunter syndrome IDS
Hurler syndrome IDUA
Hutchinson–Gilford progeria syndrome LMNA
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 [13]
Jackson–Weiss syndrome FGFR2
Joubert syndrome INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, TMEM138, TCTN3, ZNF423, AMRC9
Juvenile primary lateral sclerosis (JPLS) ALS2
Keloid disorder
Kniest dysplasia COL2A1
Kosaki overgrowth syndrome PDGFRB
Krabbe disease GALC
Kufor–Rakeb syndrome ATP13A2
LCAT deficiency LCAT
Lesch–Nyhan syndrome HPRT (X)
Li–Fraumeni syndrome TP53
Limb-Girdle Muscular Dystrophy Multiple dominant or recessive [14][15]
Lynch syndrome MSH2, MLH1, MSH6, PMS2, PMS1, TGFBR2, MLH3
lipoprotein lipase deficiency recessive
Malignant hyperthermia RYR1 (19q13.2) dominant
Maple syrup urine disease BCKDHA, BCKDHB, DBT, DLD recessive
Marfan syndrome 15 dominant
Maroteaux–Lamy syndrome ARSB recessive
McCune–Albright syndrome 20 q13.2–13.3
McLeod syndrome XK (X)
MEDNIK syndrome AP1S1 D [16][17]
Mediterranean fever, familial MEFV
Menkes disease ATP7A (Xq21.1)
Methylmalonic acidemia MMAA, MMAB, MMACHC, MMADHC, LMBRD1, MUT recessive
Micro syndrome RAB3GAP (2q21.3)
Microcephaly ASPM (1q31) P
Morquio syndrome GALNS, GLB1
Mowat–Wilson syndrome ZEB2 (2)
Muenke syndrome FGFR3
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
Natowicz syndrome HYAL1
Neurofibromatosis type I 17q11.2
Neurofibromatosis type II
Niemann–Pick disease SMPD1, NPA, NPB, NPC1, NPC2
Nonketotic hyperglycinemia GLDC, AMT, GCSH recessive
Nonsyndromic deafness
Noonan syndrome PTPN11, KRAS, SOS1, RAF1, NRAS, HRAS, BRAF, SHOC2, MAP2K1, MAP2K2, CBL dominant
Norman–Roberts syndrome RELN recessive
Ogden syndrome X P
Omenn syndrome RAG1, RAG2 recessive
Osteogenesis imperfecta COL1A1, COL1A2, IFITM5 dominant
Pantothenate kinase-associated neurodegeneration PANK2 (20p13–p12.3) recessive
Patau syndrome (Trisomy 13) 13 trisomy
PCC deficiency (propionic acidemia) PC recessive
Porphyria cutanea tarda (PCT) UROD dominant
Pendred syndrome PDS (7) recessive
Peutz–Jeghers syndrome STK11 dominant
Pfeiffer syndrome FGFR1, FGFR2 dominant
Phenylketonuria PAH recessive
Pipecolic acidemia AASDHPPT recessive
Pitt–Hopkins syndrome TCF4 (18) dominant, de novo
Polycystic kidney disease PKD1 (16) or PKD2 (4) P
Polycystic ovary syndrome (PCOS)
Prader–Willi syndrome 15 paternal imprinting
Primary ciliary dyskinesia (PCD) DNAI1, DNAH5, TXNDC3, DNAH11, DNAI2, KTU, RSPH4A, RSPH9, LRRC50 recessive
Primary pulmonary hypertension
Protein C deficiency PROC dominant [18]
Protein S deficiency PROS1 dominant
Pseudo-Gaucher disease
Pseudoxanthoma elasticum ABCC6 recessive
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
Rett syndrome MECP2 dominant, often de novo
Roberts syndrome ESCO2 recessive
Rubinstein–Taybi syndrome (RSTS) CREBBP dominant
Sandhoff disease HEXB recessive
Sanfilippo syndrome SGSH, NAGLU, HGSNAT, GNS
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


Sideroblastic anemia ABCB7, SLC25A38, GLRX5 recessive
Sly syndrome GUSB recessive
Smith–Lemli–Opitz syndrome DHCR7 recessive
Smith–Magenis syndrome 17p11.2 dominant
Snyder–Robinson syndrome Xp21.3-p22.12 recessive
Spinal muscular atrophy 5q
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
Stickler syndrome (multiple forms) COL11A1, COL11A2, COL2A1, COL9A1 dominant or recessive
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
Treacher Collins syndrome 5q32–q33.1 (TCOF1, POLR1C, or POLR1D) dominant
Tuberous sclerosis complex (TSC) TSC1, TSC2 dominant
Turner syndrome X monosomy 1:2,000-2,500 live female births
Usher syndrome MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1 recessive
Variegate porphyria PPOX dominant
von Hippel–Lindau disease VHL dominant
von Willebrand disease VWF dominant
Waardenburg syndrome PAX3, MITF, WS2B, WS2C, SNAI2, EDNRB, EDN3, SOX10 dominant
Weissenbacher–Zweymüller syndrome COL11A2 recessive
Williams syndrome 7q11.23 dominant 1:10,000
Wilson disease ATP7B recessive
Woodhouse–Sakati syndrome C2ORF37 (2q22.3–q35) recessive
Wolf–Hirschhorn syndrome 4p16.3 dominant, often de novo
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


X-linked severe combined immunodeficiency (X-SCID) X
X-linked sideroblastic anemia (XLSA) ALAS2 (X)
47,XXX (triple X syndrome) X C
XXXX syndrome (48, XXXX) X
XXXXX syndrome (49, XXXXX) X
XYY syndrome (47,XYY) X
Zellweger syndrome PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26 recessive


  1. ^ Mitchel, Marissa W.; Moreno-De-Luca, Daniel; Myers, Scott M.; Levy, Rebecca V.; Turner, Stefanie; Ledbetter, David H.; Martin, Christa L. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "17q12 Recurrent Deletion Syndrome", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 27929632, retrieved 2021-02-16
  2. ^ Roehlen, Natascha; Hilger, Hanna; Stock, Friedrich; Gläser, Birgitta; Guhl, Johannes; Schmitt-Graeff, Annette; Seufert, Jochen; Laubner, Katharina (2018-10-01). "17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5". The Journal of Clinical Endocrinology & Metabolism. 103 (10): 3601–3610. doi:10.1210/jc.2018-00955. ISSN 0021-972X.
  3. ^ Wan, Shanning; Zheng, Yunyun; Dang, Yinghui; Song, Tingting; Chen, Biliang; Zhang, Jianfang (2019-05-17). "Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities". Molecular Cytogenetics. 12 (1): 19. doi:10.1186/s13039-019-0431-7. ISSN 1755-8166. PMC 6525371. PMID 31131025.
  4. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Alagille syndrome". Retrieved 2019-04-16.
  5. ^ "FBR Model for Genetic Tests|ACCE|Genetic Testing|Genomics|CDC". Retrieved 2017-10-24.
  6. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Congenital muscular dystrophy". Retrieved 2019-04-16.
  7. ^ "Distal Myopathies - Types of Distal MD". Muscular Dystrophy Association. 2015-12-18. Retrieved 2019-04-16.
  8. ^ "OMIM Entry - # 310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD". Retrieved 2019-04-16.
  9. ^ Uitto, Jouni; Has, Cristina; Vahidnezhad, Hassan; Youssefian, Leila; Bruckner-Tuderman, Leena (January 2017). "Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa". Matrix Biology. 57–58: 76–85. doi:10.1016/j.matbio.2016.07.009. PMID 27496350.
  10. ^ Fine, Jo-David (November 2016). "Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry". JAMA Dermatology. 152 (11): 1231–1238. doi:10.1001/jamadermatol.2016.2473. PMID 27463098.
  11. ^ Faughnan, Marie E.; Mager, Johannes J.; Hetts, Steven W.; Palda, Valerie A.; Lang-Robertson, Kelly; Buscarini, Elisabetta; Deslandres, Erik; Kasthuri, Raj S.; Lausman, Andrea; Poetker, David; Ratjen, Felix; Chesnutt, Mark S.; Clancy, Marianne; Whitehead, Kevin J.; Al-Samkari, Hanny; Chakinala, Murali; Conrad, Miles; Cortes, Daniel; Crocione, Claudia; Darling, Jama; De Gussem, Els; Derksen, Carol; Dupuis-Girod, Sophie; Foy, Patrick; Geisthoff, Urban; Gossage, James R.; Hammill, Adrienne; Heimdal, Ketil; Henderson, Katharine; et al. (2020). "Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia". Annals of Internal Medicine. doi:10.7326/M20-1443. PMID 32894695.
  12. ^ "OMIM Entry – # 236200 – Homocystinuria Due to Cystathionine Beta-Synthase Deficiency". Retrieved 2018-03-01.
  13. ^
  14. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal recessive limb girdle muscular dystrophy". Retrieved 2019-04-16.
  15. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal dominant limb girdle muscular dystrophy". Retrieved 2019-04-16.
  16. ^ "'MEDNIK': A novel genetic syndrome". EurekAlert!. Retrieved 2017-10-24.
  17. ^ Archived 2008-12-07 at the Wayback Machine
  18. ^ "OMIM Entry – # 176860 – Thrombophilia Due to Protein C Deficiency, Autosomal Dominant; THPH3". Retrieved 2018-03-01.
  19. ^ "OMIM Entry - # 300263 - SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD". Retrieved 2019-04-16.
  20. ^ "OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME". Retrieved 2019-04-16.

Further reading[edit]