List of genetic disorders

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The following is a list of genetic disorders and if known, type of mutation and the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in these genes that causes the disease.

Most common disorders[edit]

Duchenne muscular dystrophy
A cherry red spot, which can be a feature of several storage disorders, including Tay–Sachs disease
Disorder Chromosome Mutation
22q11.2 deletion syndrome 22q D
Angelman syndrome 15 DCP
Canavan disease 17p
Charcot–Marie–Tooth disease 17
Color blindness X P
Cri du chat 5 D
Cystic fibrosis 7q P
Down syndrome 21 C
Duchenne muscular dystrophy Xp D
Familial hypercholesterolemia 19 P
Haemochromatosis 6 P
Haemophilia 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 1p36 D 1:7500
18p deletion syndrome 18p D
21-hydroxylase deficiency 6p21.3 recessive
Alpha 1-antitrypsin deficiency 14q32 co-dominant, 1:2500-5000
AAA syndrome (achalasia–addisonianism–alacrima syndrome) AAAS recessive
Aarskog–Scott syndrome FGD1
ABCD syndrome EDNRB recessive
Aceruloplasminemia CP (3p26.3) recessive
Acheiropodia LMBR1 recessive
Achondrogenesis type II COL2A1 (12q13.11) dominant
achondroplasia FGFR3 (4p16.3) dominant
Acute intermittent porphyria HMBS dominant and recessive forms
adenylosuccinate lyase deficiency ADSL recessive
Adrenoleukodystrophy ABCD1 (X) recessive
Alagille syndrome JAG1, NOTCH2 dominant [1]
ADULT syndrome TP63 dominant
Aicardi–Goutières syndrome TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1
Alexander disease GFAP
alkaptonuria HGD
Alport syndrome 10q26.13 COL4A3, COL4A4, and COL4A5 1:5000-10000
Alternating hemiplegia of childhood ATP1A3


Amyotrophic lateral sclerosisFrontotemporal dementia C9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPT
Alström syndrome ALMS1
Alzheimer's disease PSEN1, PSEN2, APP, APOEε4
Amelogenesis imperfecta
Aminolevulinic acid dehydratase deficiency porphyria ALAD
Androgen insensitivity syndrome
Angelman syndrome UBE3A
Apert syndrome FGFR2
Arthrogryposis–renal dysfunction–cholestasis syndrome VPS33B
Ataxia telangiectasia ATM
Axenfeld syndrome PITX2, FOXO1A, FOXC1, PAX6
Beare–Stevenson cutis gyrata syndrome 10q26, FGFR2
Beckwith–Wiedemann syndrome IGF-2, CDKN1C, H19, KCNQ1OT1
Benjamin syndrome
biotinidase deficiency BTD
Björnstad syndrome BCS1L
Bloom syndrome 15q26.1
Birt–Hogg–Dubé syndrome 17 FLCN
Brody myopathy ATP2A1
Brunner syndrome MAOA
CARASIL syndrome HTRA1
Chronic granulomatous disorder
Campomelic dysplasia X 17q24.3–q25.1 C
Canavan disease ASPA
Carpenter Syndrome RAB23
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (SEDNIK) SNAP29
Cystic fibrosis CFTR (7q31.2) D or S [2]
Charcot–Marie–Tooth disease PMP22, MFN2
CHARGE syndrome CHD7
Chédiak–Higashi syndrome LYST recessive
Cleidocranial dysostosis RUNX2
Cockayne syndrome ERCC6, ERCC8
Coffin–Lowry syndrome X RPS6KA3
Cohen syndrome COH1
collagenopathy, types II and XI COL11A1, COL11A2, COL2A1
Congenital insensitivity to pain with anhidrosis (CIPA) NTRK1
Congenital Muscular Dystrophy multiple dominant or recessive [3]
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 [4]
Duchenne muscular dystrophy Dystrophin X-linked recessive [5]
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 [6][7] 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
Hereditary inclusion body myopathy GNE, MYHC2A, VCP, HNRPA2B1, HNRNPA1
Hereditary multiple exostoses EXT1, EXT2, EXT3
Hereditary spastic paraplegia (infantile-onset ascending hereditary spastic paralysis)
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 [8]
Huntington's disease HD T
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
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 [9][10]
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 [11][12]
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 [13]
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
Usher syndrome MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1 recessive
Variegate porphyria PPOX dominant
von Hippel–Lindau disease VHL 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. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Alagille syndrome". Retrieved 2019-04-16.
  2. ^ "FBR Model for Genetic Tests|ACCE|Genetic Testing|Genomics|CDC". Retrieved 2017-10-24.
  3. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Congenital muscular dystrophy". Retrieved 2019-04-16.
  4. ^ "Distal Myopathies - Types of Distal MD". Muscular Dystrophy Association. 2015-12-18. Retrieved 2019-04-16.
  5. ^ "OMIM Entry - # 310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD". Retrieved 2019-04-16.
  6. ^ 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.
  7. ^ 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.
  8. ^ "OMIM Entry – # 236200 – Homocystinuria Due to Cystathionine Beta-Synthase Deficiency". Retrieved 2018-03-01.
  9. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal recessive limb girdle muscular dystrophy". Retrieved 2019-04-16.
  10. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal dominant limb girdle muscular dystrophy". Retrieved 2019-04-16.
  11. ^ "'MEDNIK': A novel genetic syndrome". EurekAlert!. Retrieved 2017-10-24.
  12. ^
  13. ^ "OMIM Entry – # 176860 – Thrombophilia Due to Protein C Deficiency, Autosomal Dominant; THPH3". Retrieved 2018-03-01.
  14. ^ "OMIM Entry - # 300263 - SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD". Retrieved 2019-04-16.
  15. ^ "OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME". Retrieved 2019-04-16.

Further reading[edit]