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
- P – Point mutation, or any insertion/deletion entirely inside one gene
- D – Deletion of a gene or genes
- C – Whole chromosome extra, missing, or both (see chromosome abnormality)
- T – Trinucleotide repeat disorders: gene is extended in length
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 | |||
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 | ||||
Albinism | |||||
Alexander disease | GFAP | ||||
alkaptonuria | HGD | ||||
Alport syndrome | 10q26.13 COL4A3, COL4A4, and COL4A5 | 1:5000-10000 | |||
Alternating hemiplegia of childhood | ATP1A3 |
1:1,000,000 | |||
Amyotrophic lateral sclerosis – Frontotemporal 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 | ||||
CADASIL syndrome | NOTCH3 | P | |||
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 | ||||
Fanconi anemia (FA) | FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, FANCN, FANCP, FANCS, RAD51C, XPF | ||||
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 |
T | |||
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) | 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 | [8] | ||
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 | |||
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) | ||||
Methemoglobinemia | |||||
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) | |||||
Porphyria | |||||
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 | , , | ||
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 | 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
- RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Alagille syndrome". www.orpha.net. Retrieved 2019-04-16.
- "FBR Model for Genetic Tests|ACCE|Genetic Testing|Genomics|CDC". www.cdc.gov. Retrieved 2017-10-24.
- RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Congenital muscular dystrophy". www.orpha.net. Retrieved 2019-04-16.
- "Distal Myopathies - Types of Distal MD". Muscular Dystrophy Association. 2015-12-18. Retrieved 2019-04-16.
- "OMIM Entry - # 310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD". omim.org. Retrieved 2019-04-16.
- 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.
- 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.
- "OMIM Entry – # 236200 – Homocystinuria Due to Cystathionine Beta-Synthase Deficiency". omim.org. Retrieved 2018-03-01.
- RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal recessive limb girdle muscular dystrophy". www.orpha.net. Retrieved 2019-04-16.
- RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal dominant limb girdle muscular dystrophy". www.orpha.net. Retrieved 2019-04-16.
- "'MEDNIK': A novel genetic syndrome". EurekAlert!. Retrieved 2017-10-24.
- http://www.ctv.ca/servlet/ArticleNews/story/CTVNews/20081204/Mutated_Gene_081204/20081204?hub=Health
- "OMIM Entry – # 176860 – Thrombophilia Due to Protein C Deficiency, Autosomal Dominant; THPH3". omim.org. Retrieved 2018-03-01.
- "OMIM Entry - # 300263 - SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD". omim.org. Retrieved 2019-04-16.
- "OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME". omim.org. Retrieved 2019-04-16.
Further reading
- "Specific Genetic Disorders". National Human Genome Research Institute (NHGRI). genome.gov. Retrieved 15 November 2017.
- "Congenital and Genetic Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. NIH.gov. Retrieved 15 November 2017.
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