List of genetic disorders

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
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

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
achondroplasiaFGFR3 (4p16.3)dominant 1:2,000
Acute intermittent porphyriaHMBSdominant and recessive forms 1:500-50,000
adenylosuccinate lyase deficiencyADSL recessive 1:7,800,0000
AdrenoleukodystrophyABCD1 (X)recessive 1:17,000
Alagille syndromeJAG1, NOTCH2 dominant [4] 1:30,000-50,000
ADULT syndrome TP63 dominant
Aicardi–Goutières syndromeTREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1 1:19,500,000
Albinism 1:18,000-20,000
Alexander diseaseGFAP 1:15,600,000
alkaptonuriaHGD 1:250,000-1,000,000
Alport syndrome10q26.13 COL4A3, COL4A4, and COL4A5 1:5,000-10,000
Alternating hemiplegia of childhood ATP1A3 1:1,000,000
Amyotrophic lateral sclerosis – Frontotemporal dementiaC9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPT 1:100,000
Alström syndromeALMS1 1:8,600,000
Alzheimer's diseasePSEN1, 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 syndromeUBE3A 1:12,000-20,000
Apert syndrome FGFR2 1:65,000-80,000
Arthrogryposis–renal dysfunction–cholestasis syndromeVPS33B 1:78,000,000
Ataxia telangiectasiaATM 1:40,000-1,000,000
Axenfeld syndrome PITX2, FOXO1A, FOXC1, PAX6 1:200,000
Beare–Stevenson cutis gyrata syndrome10q26, FGFR2 1:390,000,000
Beckwith–Wiedemann syndrome IGF-2, CDKN1C, H19, KCNQ1OT1 1:15,000
Benjamin syndrome 1:20,000,000
biotinidase deficiencyBTD 1:110,000,000
Björnstad syndrome BCS1L 1:260,000,000
Bloom syndrome15q26.1 1:480,000
Birt–Hogg–Dubé syndrome17 FLCN 1:19,500,000
Brody myopathy ATP2A1 1:10,000,000
Brunner syndrome MAOA 1:500,000,000
CADASIL syndromeNOTCH3P 1:156,000,000
CRASIL syndrome HTRA1 1:156,000,000
Chronic granulomatous disorder 1:200,000
Campomelic dysplasiaX 17q24.3–q25.1C 1:40,000-200,000
Canavan diseaseASPA 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 fibrosisCFTR (7q31.2)D or S [5] 1:100,000
Charcot–Marie–Tooth diseasePMP22, MFN2 1:2,500
CHARGE syndromeCHD7 1:8,500-10,000
Chédiak–Higashi syndromeLYSTrecessive 1:39,000,000
Cleidocranial dysostosis RUNX2 1:7,800
Cockayne syndromeERCC6, ERCC8 1:2,600-3,900
Coffin–Lowry syndromeX RPS6KA3 1:40,000-50,000
Cohen syndromeCOH1 1:7,800,000
collagenopathy, types II and XICOL11A1, 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 syndromePTEN
CPO deficiency (coproporphyria)CPOX
Cranio-lenticulo-sutural dysplasia14q13–q21
Cri du chat5pD
Crohn's disease16q12P
Crouzon syndromeFGFR2, 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 syndrome18qD
Down Syndrome 21 C
Di George's syndrome22q11.2D
Distal hereditary motor neuropathies, multiple typesHSPB8, 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 syndromeSCN1A, SCN2A
Edwards Syndrome 18 trisomy
Ehlers–Danlos syndromeCOL1A1, 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
Fanconi anemia (FA) FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, FANCN, FANCP, FANCS, RAD51C, XPF
Fabry diseaseGLA (Xq22.1)P
Factor V Leiden thrombophilia
Fatal familial insomnia PRNP dominant
Familial adenomatous polyposisAPC
Familial dysautonomiaIKBKAP
Familial Creutzfeld–Jakob Disease PRNP dominant
Feingold syndrome MYCN
FG syndromeMED12
Fragile X syndrome FMR1 T
Friedreich's ataxiaFXN

T
G6PD deficiency
GalactosemiaGALT, GALK1, GALE
Gaucher diseaseGBA (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 syndromeMYO5A, RAB27A, MLPH
Hailey–Hailey disease ATP2C1 (3)
Harlequin type ichthyosisABCA12
Hemochromatosis, hereditaryHFE, HAMP, HFE2B, TFR2, TF, CP
HemophiliaFVIII
Hepatoerythropoietic porphyriaUROD
Hereditary coproporphyria3q12P
Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome)ENG, ACVRL1, MADH4 1:5,000 [11]
Hereditary inclusion body myopathyGNE, MYHC2A, VCP, HNRPA2B1, HNRNPA1
Hereditary multiple exostosesEXT1, 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 syndromeHPS1, HPS3, HPS4, HPS5, HPS6, HPS7, AP3B1
Hereditary neuropathy with liability to pressure palsies (HNPP)PMP22
Heterotaxy NODAL, NKX2-5, ZIC3, CCDC11, CFC1, SESN1
HomocystinuriaCBS (gene) recessive [12]
Huntington's diseasechromosome 4 HTT gene autosomal dominant [ 1:10,000 USA ]
Hunter syndrome IDS
Hurler syndrome IDUA
Hutchinson–Gilford progeria syndromeLMNA
Hyperlysinemia AASS recessive
Hyperoxaluria, primaryAGXT, GRHPR, DHDPSL
Hyperphenylalaninemia12q
Hypoalphalipoproteinemia (Tangier disease) ABCA1
HypochondrogenesisCOL2A1
Hypochondroplasia FGFR3 (4p16.3)
Immunodeficiency–centromeric instability–facial anomalies syndrome (ICF syndrome)20q11.2
Incontinentia pigmentiIKBKG (Xq28)P
Ischiopatellar dysplasiaTBX4dominant
Isodicentric 1515q11–14Inv dup 1:30,000 [13]
Jackson–Weiss syndromeFGFR2
Joubert syndromeINPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, TMEM138, TCTN3, ZNF423, AMRC9
Juvenile primary lateral sclerosis (JPLS)ALS2
Keloid disorder
Kniest dysplasiaCOL2A1
Kosaki overgrowth syndromePDGFRB
Krabbe diseaseGALC
Kufor–Rakeb syndrome ATP13A2
LCAT deficiency LCAT
Lesch–Nyhan syndromeHPRT (X)
Li–Fraumeni syndromeTP53
Limb-Girdle Muscular Dystrophy Multiple dominant or recessive [14][15]
Lynch syndromeMSH2, MLH1, MSH6, PMS2, PMS1, TGFBR2, MLH3
lipoprotein lipase deficiencyrecessive
Malignant hyperthermia RYR1 (19q13.2) dominant
Maple syrup urine disease BCKDHA, BCKDHB, DBT, DLD recessive
Marfan syndrome15dominant
Maroteaux–Lamy syndrome ARSB recessive
McCune–Albright syndrome20 q13.2–13.3
McLeod syndromeXK (X)
MEDNIK syndromeAP1S1D [16][17]
Mediterranean fever, familialMEFV
Menkes diseaseATP7A (Xq21.1)
Methemoglobinemia
Methylmalonic acidemiaMMAA, MMAB, MMACHC, MMADHC, LMBRD1, MUT recessive
Micro syndromeRAB3GAP (2q21.3)
MicrocephalyASPM (1q31)P
Morquio syndromeGALNS, GLB1
Mowat–Wilson syndromeZEB2 (2)
Muenke syndromeFGFR3
Multiple endocrine neoplasia type 1 (Wermer's syndrome)MEN1dominant
Multiple endocrine neoplasia type 2 RET dominant
Muscular dystrophymultiple

AR, AD, X-linked
Muscular dystrophy, Duchenne and Becker type
Myostatin-related muscle hypertrophyMSTN
myotonic dystrophyDMPK, CNBPdominant or T
Natowicz syndrome HYAL1
Neurofibromatosis type I17q11.2
Neurofibromatosis type II
Niemann–Pick diseaseSMPD1, NPA, NPB, NPC1, NPC2
Nonketotic hyperglycinemiaGLDC, AMT, GCSH recessive
Nonsyndromic deafness
Noonan syndromePTPN11, KRAS, SOS1, RAF1, NRAS, HRAS, BRAF, SHOC2, MAP2K1, MAP2K2, CBLdominant
Norman–Roberts syndrome RELN recessive
Ogden syndrome X P
Omenn syndrome RAG1, RAG2 recessive
Osteogenesis imperfectaCOL1A1, COL1A2, IFITM5 dominant
Pantothenate kinase-associated neurodegenerationPANK2 (20p13–p12.3)recessive
Patau syndrome (Trisomy 13)13trisomy
PCC deficiency (propionic acidemia)PCrecessive
Porphyria cutanea tarda (PCT)URODdominant
Pendred syndromePDS (7)recessive
Peutz–Jeghers syndromeSTK11 dominant
Pfeiffer syndromeFGFR1, FGFR2dominant
PhenylketonuriaPAHrecessive
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)
Porphyria
Prader–Willi syndrome15paternal imprinting
Primary ciliary dyskinesia (PCD)DNAI1, DNAH5, TXNDC3, DNAH11, DNAI2, KTU, RSPH4A, RSPH9, LRRC50 recessive
Primary pulmonary hypertension
Protein C deficiencyPROC dominant [18]
Protein S deficiencyPROS1 dominant
Pseudo-Gaucher disease
Pseudoxanthoma elasticumABCC6 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 syndromeMECP2 dominant, often de novo
Roberts syndrome ESCO2 recessive
Rubinstein–Taybi syndrome (RSTS)CREBBP dominant
Sandhoff diseaseHEXBrecessive
Sanfilippo syndrome SGSH, NAGLU, HGSNAT, GNS
Schwartz–Jampel syndromeHSPG2 recessive
Sjogren-Larsson syndrome ALDH3A2 Autosomal-recessive , ,
Spondyloepiphyseal dysplasia congenita (SED)COL2A1 dominant
Shprintzen–Goldberg syndromeFBN1dominant
Sickle cell anemia11p15P
Siderius X-linked mental retardation syndromePHF8X-Linked Recessive

[19]
Sideroblastic anemia ABCB7, SLC25A38, GLRX5 recessive
Sly syndrome GUSB recessive
Smith–Lemli–Opitz syndromeDHCR7 recessive
Smith–Magenis syndrome17p11.2 dominant
Snyder–Robinson syndromeXp21.3-p22.12 recessive
Spinal muscular atrophy5q
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, COL9A1dominant or recessive
Strudwick syndrome (spondyloepimetaphyseal dysplasia, Strudwick type)COL2A1dominant
Tay–Sachs diseaseHEXA (15)recessive
Tetrahydrobiopterin deficiencyGCH1, PCBD1, PTS, QDPR, MTHFR, DHFR recessive
Thanatophoric dysplasiaFGFR3dominant
Treacher Collins syndrome5q32–q33.1 (TCOF1, POLR1C, or POLR1D)dominant
Tuberous sclerosis complex (TSC) TSC1, TSC2 dominant
Turner syndromeXmonosomy 1:2,000-2,500 live female births
Usher syndromeMYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1recessive
Variegate porphyriaPPOXdominant
von Hippel–Lindau diseaseVHL dominant
von Willebrand diseaseVWFdominant
Waardenburg syndromePAX3, MITF, WS2B, WS2C, SNAI2, EDNRB, EDN3, SOX10 dominant
Weissenbacher–Zweymüller syndromeCOL11A2recessive
Williams syndrome7q11.23dominant 1:10,000
Wilson diseaseATP7Brecessive
Woodhouse–Sakati syndrome C2ORF37 (2q22.3–q35)recessive
Wolf–Hirschhorn syndrome4p16.3dominant, often de novo
Xeroderma pigmentosum15 ERCC4recessive
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 Xp11.2D

[20]

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
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

References
  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". www.orpha.net. Retrieved 2019-04-16.
  5. "FBR Model for Genetic Tests|ACCE|Genetic Testing|Genomics|CDC". www.cdc.gov. Retrieved 2017-10-24.
  6. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Congenital muscular dystrophy". www.orpha.net. 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". omim.org. 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.
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  13. https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1576
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  15. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal dominant limb girdle muscular dystrophy". www.orpha.net. Retrieved 2019-04-16.
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  17. http://www.ctv.ca/servlet/ArticleNews/story/CTVNews/20081204/Mutated_Gene_081204/20081204?hub=Health Archived 2008-12-07 at the Wayback Machine
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  20. "OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME". omim.org. Retrieved 2019-04-16.

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