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]

Disorder Chromosome Mutation
22q11.2 deletion syndrome 22q D
Angelman syndrome 15 DCP
Canavan disease 17p
Charcot–Marie–Tooth disease
Color blindness X P
Cri du chat 5 D
Cystic fibrosis 7q P
Down syndrome 21 C
Duchenne muscular dystrophy Xp D
Familial Hypercholesterolemia 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]

Disorder Chromosome or gene Type
1p36 deletion syndrome 1p36 D
18p deletion syndrome 18p D
21-hydroxylase deficiency 6p21.3
Alpha 1-antitrypsin deficiency 14q32
AAA syndrome (achalasia-addisonianism-alacrima) AAAS
Aarskog–Scott syndrome FGD1
ABCD syndrome EDNRB
Aceruloplasminemia CP (3p26.3)
Acheiropodia LMBR1
Achondrogenesis type II COL2A1 (12q13.11)
achondroplasia 4p16.3 S
Acute intermittent porphyria HMBS
adenylosuccinate lyase deficiency ADSL
Adrenoleukodystrophy ABCD1
Alagille syndrome JAG1, NOTCH2
ADULT syndrome TP63
Alexander disease GFAP
alkaptonuria HGD
Alport syndrome 10q26.13
Alternating hemiplegia of childhood ATP1A3 
Amyotrophic lateral sclerosis
Alström syndrome ALMS1
Alzheimer's disease
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[1] CFTR (7q31.2) D or S
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 COL11A1COL11A2, COL2A1
Congenital insensitivity to pain with anhidrosis (CIPA) NTRK1
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
Di George's syndrome 22q11.2 D
Distal hereditary motor neuropathies, multiple types HSPB8, HSPB1, HSPB3, GARS, REEP1, IGHMBP2, SLC5A7,


Ehlers–Danlos syndrome
Emery–Dreifuss syndrome EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43
Erythropoietic protoporphyria FECH



Fabry disease GLA (Xq22.1) P
factor V Leiden thrombophilia
familial adenomatous polyposis APC
familial dysautonomia IKBKAP
Feingold syndrome MYCN
FG syndrome MED12
Friedreich's ataxia FXN
G6PD deficiency
galactosemia GALT, GALK1, GALE
Gaucher disease GBA (1)
Gillespie syndrome PAX6
Glutaric aciduria, type I and type 2 GCDH, ETFAETFB,  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
Hepatoerythropoietic porphyria UROD
Hereditary coproporphyria 3q12 P
Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) ENG, ACVRL1, MADH4
Hereditary Inclusion Body Myopathy GNE, MYHC2A, VCPHNRPA2B1HNRNPA1
Hereditary multiple exostoses EXT1, EXT2, EXT3
Hereditary spastic paraplegia (infantile-onset ascending hereditary spastic paralysis)
Hermansky–Pudlak syndrome  HPS1HPS3HPS4HPS5HPS6HPS7, AP3B1
Hereditary neuropathy with liability to pressure palsies (HNPP) PMP22
Huntington's disease HD T
Hunter syndrome IDS
Hurler syndrome IDUA
Hutchinson-Gilford progeria syndrome
Hyperlysinemia AASS recessive
hyperoxaluria, primary AGXT, GRHPR, DHDPSL
Hypoalphalipoproteinemia (Tangier disease) ABCA1
Hypochondrogenesis COL2A1
Hypochondroplasia FGFR3 (4p16.3)
Immunodeficiency, centromere instability and 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
Lynch Syndrome MSH2, MLH1, MSH6, PMS2, PMS1, TGFBR2, MLH3
lipoprotein lipase deficiency, familial
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[2][3] AP1S1 D
Mediterranean fever, familial MEFV
Menkes disease ATP7A (Xq21.1)
methylmalonic acidemia
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 and type 2)
Muscular dystrophy
Muscular dystrophy, Duchenne and Becker type
Myostatin-related muscle hypertrophy
myotonic dystrophy
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, NRASHRASBRAFSHOC2MAP2K1MAP2K2, CBL dominant
Norman–Roberts syndrome RELN recessive
Ogden syndrome X P
osteogenesis imperfecta
Pantothenate kinase-associated neurodegeneration PANK2 (20p13-p12.3) recessive
Patau Syndrome (Trisomy 13) (13) trisomy
PCC deficiency (propionic acidemia) 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 Ovarian Syndrome (PCOS)
Prader-Willi syndrome 15 paternal imprinting
Primary ciliary dyskinesia (PCD)
primary pulmonary hypertension
protein C deficiency dominant
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
spondyloepiphyseal dysplasia congenita (SED) COL2A1  dominant
Shprintzen–Goldberg syndrome FBN1 dominant
sickle cell anemia 11p15 P
Siderius X-linked mental retardation syndrome Xp11.22, PHF8 PD
Sideroblastic anemia ABCB7, SLC25A38, GLRX5 recessive
Sly syndrome GUSB recessive
Smith-Lemli-Opitz syndrome DHCR7 recessive
Smith Magenis Syndrome 17p11.2 dominant
Spinal muscular atrophy
Spinocerebellar ataxia (types 1-29) ATXN1, ATXN2, ATXN3, PLEKHG4, SPTBN2, CACNA1A, ATXN7, ATXN8OS, ATXN10, TTBK2, PPP2R2B, KCNC3, PRKCG, ITPR1, TBP, KCND3, FGF14 dominant or recessive
SSB syndrome (SADDAN) FGFR3 dominant
Stargardt disease (macular degeneration) ABCA4, CNGB3ELOVL4PROM1 dominant or recessive
Stickler syndrome (multiple forms) COL11A1COL11A2COL2A1, COL9A1 dominant or recessive
Strudwick syndrome (spondyloepimetaphyseal dysplasia, Strudwick type) COL2A1 dominant
Tay-Sachs disease HEXA (15) recessive
Tetrahydrobiopterin deficiency GCH1PCBD1PTSQDPR, MTHFR, DHFR  recessive
Thanatophoric dysplasia FGFR3 dominant
Treacher Collins syndrome 5q32-q33.1 (TCOF1POLR1C, 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 chromosome 7 dominant
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
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) X C
XXXX syndrome (48, XXXX) X
XXXXX syndrome (49, XXXXX) X
XYY syndrome (47,XYY) X
Zellweger syndrome PEX1PEX2PEX3PEX5PEX6PEX10PEX12PEX13PEX14PEX16PEX19, PEX26 recessive


Further reading[edit]