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词条 List of genetic disorders
释义

  1. Most common disorders

  2. Full genetic disorders list

  3. References

  4. Further reading

{{medical citations needed|date=November 2017}}

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
22q11.2 deletion syndrome 22q D
Angelman syndrome 15 DCP
Canavan disease 17p
Charcot–Marie–Tooth disease17
Color blindness X P
Cri du chat 5 D
Cystic fibrosis 7q P
Down syndrome 21 C
Duchenne muscular dystrophy Xp D
Familial hypercholesterolemia19P
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 15DCP
Sickle cell disease 11p P
Spinal muscular atrophy 5q DP
Tay–Sachs disease 15 P
Turner syndrome X C

Full genetic disorders list

DisorderChromosome or geneTypeprevalence (approx.)
1p36 deletion syndrome 1p36 D 1:7500
18p deletion syndrome 18p D
21-hydroxylase deficiency 6p21.3 recessive
Alpha 1-antitrypsin deficiency14q32
AAA syndrome (achalasia–addisonianism–alacrima syndrome)AAAS
Aarskog–Scott syndromeFGD1
ABCD syndromeEDNRB recessive
AceruloplasminemiaCP (3p26.3) recessive
AcheiropodiaLMBR1recessive
Achondrogenesis type IICOL2A1 (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 1:100000
ADULT syndromeTP63dominant
Aicardi–Goutières syndrome TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1
Albinism
Alexander disease GFAP
alkaptonuria HGD
Alport syndrome 10q26.13
Alternating hemiplegia of childhoodATP1A3
Amyotrophic lateral sclerosis – Frontotemporal dementiaC9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPT
Alström syndrome ALMS1
Alzheimer's disease PSEN1, PSEN2, APP, APOEε4
Amelogenesis imperfecta
Aminolevulinic acid dehydratase deficiency porphyriaALAD
Androgen insensitivity syndrome
Angelman syndrome UBE3A
Apert syndromeFGFR2
Arthrogryposis–renal dysfunction–cholestasis syndrome VPS33B
Ataxia telangiectasia ATM
Axenfeld syndromePITX2, FOXO1A, FOXC1, PAX6
Beare–Stevenson cutis gyrata syndrome 10q26, FGFR2
Beckwith–Wiedemann syndrome IGF-2, CDKN1C, H19, KCNQ1OT1
Benjamin syndrome
biotinidase deficiency BTD
Björnstad syndromeBCS1L
Bloom syndrome 15q26.1
Birt–Hogg–Dubé syndrome 17 FLCN
Brody myopathyATP2A1
Brunner syndromeMAOA
CADASIL syndrome NOTCH3 P
CARASIL syndromeHTRA1
Chronic granulomatous disorder
Campomelic dysplasia X 17q24.3–q25.1 C
Canavan disease ASPA
Carpenter SyndromeRAB23
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (SEDNIK) SNAP29
Cystic fibrosis CFTR (7q31.2) D or S[1]
Charcot–Marie–Tooth disease PMP22, MFN2
CHARGE syndrome CHD7
Chédiak–Higashi syndrome LYSTrecessive
Cleidocranial dysostosisRUNX2
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
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 diseaseATP2A2
Dent's disease (Genetic hypercalciuria) Xp11.22 CLCN5, OCRL
Denys–Drash syndromeWT1
De Grouchy syndrome 18q D
Down Syndrome21C
Di George's syndrome 22q11.2 D
Distal hereditary motor neuropathies, multiple types HSPB8, HSPB1, HSPB3, GARS, REEP1, IGHMBP2, SLC5A7, DCTN1, TRPV4, SIGMAR1
Dravet syndrome SCN1A, SCN2A
Edwards Syndrome18trisomy
Ehlers–Danlos syndrome COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB, ADAMTS2, PLOD1, B4GALT7, DSEdominant
Emery–Dreifuss syndromeEMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43
Erythropoietic protoporphyriaFECH
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 insomniaPRNPdominant
Familial adenomatous polyposis APC
Familial dysautonomia IKBKAP
Familial Creutzfeld–Jakob DiseasePRNPdominant
Feingold syndromeMYCN
FG syndrome MED12
Fragile X syndromeFMR1T
Friedreich's ataxiaFXN

T

G6PD deficiency
Galactosemia GALT, GALK1, GALE
Gaucher disease GBA (1)
Gerstmann–Sträussler–Scheinker syndromePRNPdominant
Gillespie syndromePAX6
Glutaric aciduria, type I and type 2GCDH, ETFA, ETFB, ETFDHrecessive
GRACILE syndromeBCS1L
Griscelli syndrome MYO5A, RAB27A, MLPH
Hailey–Hailey diseaseATP2C1 (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
HeterotaxyNODAL, NKX2-5, ZIC3, CCDC11, CFC1, SESN1
Homocystinuria CBS (gene)recessive[2]
Huntington's disease HD T
Hunter syndromeIDS
Hurler syndromeIDUA
Hutchinson–Gilford progeria syndrome LMNA
HyperlysinemiaAASSrecessive
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 syndromeATP13A2
LCAT deficiencyLCAT
Lesch–Nyhan syndrome HPRT (X)
Li–Fraumeni syndrome TP53
Lynch syndrome MSH2, MLH1, MSH6, PMS2, PMS1, TGFBR2, MLH3
lipoprotein lipase deficiency recessive
Malignant hyperthermia RYR1 (19q13.2) dominant
Maple syrup urine diseaseBCKDHA, BCKDHB, DBT, DLDrecessive
Marfan syndrome 15 dominant
Maroteaux–Lamy syndromeARSBrecessive
McCune–Albright syndrome 20 q13.2–13.3
McLeod syndrome XK (X)
MEDNIK syndrome AP1S1 D[3][4]
Mediterranean fever, familial MEFV
Menkes disease ATP7A (Xq21.1)
Methemoglobinemia
Methylmalonic acidemia MMAA, MMAB, MMACHC, MMADHC, LMBRD1, MUTrecessive
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) MEN1dominant
Multiple endocrine neoplasia type 2RETdominant
Muscular dystrophy
Muscular dystrophy, Duchenne and Becker type
Myostatin-related muscle hypertrophy MSTN
myotonic dystrophy DMPK, CNBPdominant or T
Natowicz syndromeHYAL1
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, CBLdominant
Norman–Roberts syndromeRELNrecessive
Ogden syndrome X P
Omenn syndromeRAG1, RAG2recessive
Osteogenesis imperfecta COL1A1, COL1A2, IFITM5dominant
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 STK11dominant
Pfeiffer syndrome FGFR1, FGFR2 dominant
Phenylketonuria PAH recessive
Pipecolic acidemiaAASDHPPTrecessive
Pitt–Hopkins syndromeTCF4 (18)dominant, de novo
Polycystic kidney disease PKD1 (16) or PKD2 (4) P
Polycystic ovary syndrome (PCOS)
Porphyria
Prader–Willi syndrome 15paternal imprinting
Primary ciliary dyskinesia (PCD) DNAI1, DNAH5, TXNDC3, DNAH11, DNAI2, KTU, RSPH4A, RSPH9, LRRC50 recessive
Primary pulmonary hypertension
Protein C deficiency PROC dominant[5]
Protein S deficiency PROS1dominant
Pseudo-Gaucher disease
Pseudoxanthoma elasticum ABCC6recessive
Retinitis pigmentosaRP1, 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, CRXdominant or recessive
Rett syndrome MECP2dominant, often de novo
Roberts syndromeESCO2recessive
Rubinstein–Taybi syndrome (RSTS) CREBBPdominant
Sandhoff disease HEXB recessive
Sanfilippo syndromeSGSH, NAGLU, HGSNAT, GNS
Schwartz–Jampel syndrome HSPG2recessive
Spondyloepiphyseal dysplasia congenita (SED) COL2A1dominant
Shprintzen–Goldberg syndrome FBN1 dominant
Sickle cell anemia 11p15 P
Siderius X-linked mental retardation syndrome Xp11.22, PHF8 PD
Sideroblastic anemiaABCB7, SLC25A38, GLRX5recessive
Sly syndromeGUSBrecessive
Smith–Lemli–Opitz syndrome DHCR7recessive
Smith–Magenis syndrome 17p11.2 dominant
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, PROM1dominant 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, DHFRrecessive
Thanatophoric dysplasia FGFR3dominant
Treacher Collins syndrome 5q32–q33.1 (TCOF1, POLR1C, or POLR1D) dominant
Tuberous sclerosis complex (TSC)TSC1, TSC2dominant
Turner syndrome X monosomy
Usher syndrome MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1 recessive
Variegate porphyria PPOX dominant
von Hippel–Lindau disease VHLdominant
Waardenburg syndrome PAX3, MITF, WS2B, WS2C, SNAI2, EDNRB, EDN3, SOX10 dominant
Weissenbacher–Zweymüller syndrome COL11A2 recessive
Williams syndrome 7q11.23 dominant 1:10000
Wilson disease ATP7Brecessive
Woodhouse–Sakati syndromeC2ORF37 (2q22.3–q35) recessive
Wolf–Hirschhorn syndrome 4p16.3 dominant, often de novo
Xeroderma pigmentosum 15 ERCC4recessive
X-linked mental retardation and macroorchidism (fragile X syndrome) X
X-linked spinal-bulbar muscle atrophy (spinal and bulbar muscular atrophy) X
Xp11.22 deletion X CENPVL1, CENPVL2, GSPT2, MAGED1 D
X-linked severe combined immunodeficiency (X-SCID) X
X-linked sideroblastic anemia (XLSA) ALAS2 (X)
47,XXX (triple X syndrome)XC
XXXX syndrome (48, XXXX) X
XXXXX syndrome (49, XXXXX) X
XYY syndrome (47,XYY) X
Zellweger syndromePEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26recessive

References

1. ^{{cite web|url=https://www.cdc.gov/genomics/gtesting/ACCE/FBR/|title=FBR Model for Genetic Tests{{!}}ACCE{{!}}Genetic Testing{{!}}Genomics{{!}}CDC|website=www.cdc.gov|access-date=2017-10-24}}
2. ^{{cite web|url=https://omim.org/entry/236200|title=OMIM Entry – # 236200 – Homocystinuria Due to Cystathionine Beta-Synthase Deficiency|website=omim.org|access-date=2018-03-01}}
3. ^{{cite web|url=http://www.eurekalert.org/pub_releases/2008-12/plos-an120308.php|title='MEDNIK': A novel genetic syndrome|website=EurekAlert!|language=en|access-date=2017-10-24}}
4. ^http://www.ctv.ca/servlet/ArticleNews/story/CTVNews/20081204/Mutated_Gene_081204/20081204?hub=Health
5. ^{{cite web|url=https://omim.org/entry/176860|title=OMIM Entry – # 176860 – Thrombophilia Due to Protein C Deficiency, Autosomal Dominant; THPH3|website=omim.org|access-date=2018-03-01}}

Further reading

  • {{cite web|title=Specific Genetic Disorders|url=https://www.genome.gov/10001204/specific-genetic-disorders/|website=National Human Genome Research Institute (NHGRI)|publisher=genome.gov|accessdate=15 November 2017}}
  • {{cite web|title=Congenital and Genetic Diseases {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|url=https://rarediseases.info.nih.gov/diseases/diseases-by-category/5/congenital-and-genetic-diseases|website=rarediseases.info.nih.gov|publisher=NIH.gov|accessdate=15 November 2017|language=en}}
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3 : Lists of diseases|Genetic diseases and disorders|Medical lists
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