List of genetic disorders

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

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 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 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
achondroplasiaFGFR3 (4p16.3)dominant
Acute intermittent porphyriaHMBSdominant and recessive forms
adenylosuccinate lyase deficiencyADSL recessive
AdrenoleukodystrophyABCD1 (X)recessive
Alagille syndromeJAG1, NOTCH2 dominant [1]
ADULT syndrome TP63 dominant
Aicardi–Goutières syndromeTREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1
Albinism
Alexander diseaseGFAP
alkaptonuriaHGD
Alport syndrome10q26.13 COL4A3, COL4A4, and COL4A5 1:5000-10000
Alternating hemiplegia of childhood ATP1A3

1:1,000,000

Amyotrophic lateral sclerosisFrontotemporal dementiaC9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPT
Alström syndromeALMS1
Alzheimer's diseasePSEN1, PSEN2, APP, APOEε4
Amelogenesis imperfecta
Aminolevulinic acid dehydratase deficiency porphyria ALAD
Androgen insensitivity syndrome
Angelman syndromeUBE3A
Apert syndrome FGFR2
Arthrogryposis–renal dysfunction–cholestasis syndromeVPS33B
Ataxia telangiectasiaATM
Axenfeld syndrome PITX2, FOXO1A, FOXC1, PAX6
Beare–Stevenson cutis gyrata syndrome10q26, FGFR2
Beckwith–Wiedemann syndrome IGF-2, CDKN1C, H19, KCNQ1OT1
Benjamin syndrome
biotinidase deficiencyBTD
Björnstad syndrome BCS1L
Bloom syndrome15q26.1
Birt–Hogg–Dubé syndrome17 FLCN
Brody myopathy ATP2A1
Brunner syndrome MAOA
CADASIL syndromeNOTCH3P
CARASIL syndrome HTRA1
Chronic granulomatous disorder
Campomelic dysplasiaX 17q24.3–q25.1C
Canavan diseaseASPA
Carpenter Syndrome RAB23
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (SEDNIK)SNAP29
Cystic fibrosisCFTR (7q31.2)D or S [2]
Charcot–Marie–Tooth diseasePMP22, MFN2
CHARGE syndromeCHD7
Chédiak–Higashi syndromeLYSTrecessive
Cleidocranial dysostosis RUNX2
Cockayne syndromeERCC6, ERCC8
Coffin–Lowry syndromeX RPS6KA3
Cohen syndromeCOH1
collagenopathy, types II and XICOL11A1, 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 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 [4]
Duchenne muscular dystrophy Dystrophin X-linked recessive [5]
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 [6][7] 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
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 [8]
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
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 [9][10]
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 [11][12]
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 [13]
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

[14]

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
Usher syndromeMYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1recessive
Variegate porphyriaPPOXdominant
von Hippel–Lindau diseaseVHL dominant
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

[15]

1:1000000
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. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Alagille syndrome". www.orpha.net. Retrieved 2019-04-16.
  2. "FBR Model for Genetic Tests|ACCE|Genetic Testing|Genomics|CDC". www.cdc.gov. Retrieved 2017-10-24.
  3. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Congenital muscular dystrophy". www.orpha.net. 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". omim.org. 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. PMID 27496350.
  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. PMID 27463098.
  8. "OMIM Entry – # 236200 – Homocystinuria Due to Cystathionine Beta-Synthase Deficiency". omim.org. Retrieved 2018-03-01.
  9. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal recessive limb girdle muscular dystrophy". www.orpha.net. Retrieved 2019-04-16.
  10. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal dominant limb girdle muscular dystrophy". www.orpha.net. Retrieved 2019-04-16.
  11. "'MEDNIK': A novel genetic syndrome". EurekAlert!. Retrieved 2017-10-24.
  12. http://www.ctv.ca/servlet/ArticleNews/story/CTVNews/20081204/Mutated_Gene_081204/20081204?hub=Health
  13. "OMIM Entry – # 176860 – Thrombophilia Due to Protein C Deficiency, Autosomal Dominant; THPH3". omim.org. Retrieved 2018-03-01.
  14. "OMIM Entry - # 300263 - SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD". omim.org. Retrieved 2019-04-16.
  15. "OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME". omim.org. Retrieved 2019-04-16.

Further reading

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