List of genetic disorders
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The following is a list of genetic disorders and their origins. Beside most disorders is a code that indicates the type of mutation and the chromosome involved.
Common disorders
| Disorder | Mutation | Chromosome |
|---|---|---|
| Angelman syndrome | DCP | 15 |
| Canavan disease | 17p | |
| Charcot-Marie-Tooth disease | ||
| color blindness | P | X |
| Cri du Chat | D | 5 |
| Cystic fibrosis | P | 7q |
| Down syndrome | C | 21 |
| Duchenne's Muscular Dystrophy | D | Xp |
| Hemophilia | P | X |
| Joubert syndrome | ||
| Klinefelter syndrome | C | X |
| Neurofibromatosis | ||
| Pelizaeus-Merzbacher disease | ||
| Phenylketonuria | P | 12q |
| Prader-Willi syndrome | DC | 15 |
| Sickle Cell Anemia | P | 11p |
| Spina bifida | P | 1 |
| Tay-Sachs disease | P | 15 |
| Turner syndrome | C | X |
Legend:
- 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
- Trinucleotide repeat disorders - gene is extended in length
Full list
0–9
| Disorder | Mutation | Chromosome |
|---|---|---|
| 21-hydroxylase deficiency | ||
| 45,X see Turner syndrome | ||
| 47,XX,+21 see Down syndrome | ||
| 47,XXX see triple X syndrome | ||
| 47,XXY see Klinefelter syndrome | ||
| 47,XY,+21 see Down syndrome | ||
| 47,XYY syndrome | ||
| 5-ALA dehydratase-deficient porphyria see ALAD deficiency porphyria | ||
| 5-aminolaevulinic dehydratase deficiency porphyria see ALAD deficiency porphyria | ||
| 5p deletion syndrome see Cri du chat | ||
| 5p- syndrome see Cri du chat |
A
| Disorder | Mutation | Chromosome |
|---|---|---|
| A-T see ataxia-telangiectasia | ||
| AAT see alpha-1 antitrypsin deficiency | ||
| Absence of vas deferens see congenital bilateral absence of vas deferens | ||
| Absent vasa see congenital bilateral absence of vas deferens | ||
| ACG2 see achondrogenesis, type II | ||
| ACH see achondroplasia | ||
| achondrogenesis, type II | ||
| achondroplasia | substitution | 4p16.3 |
| Acid beta-glucosidase deficiency see Gaucher disease type 1 | ||
| Acrocephalosyndactyly (Apert) see Apert syndrome | ||
| acrocephalosyndactyly, type V see Pfeiffer syndrome | ||
| Acrocephaly see Apert syndrome | ||
| Acute cerebral Gaucher's disease see Gaucher disease type 2 | ||
| acute intermittent porphyria | ||
| ACY2 deficiency see Canavan disease | ||
| AD | ||
| Adelaide-type craniosynostosis see Muenke syndrome | ||
| Adenomatous Polyposis Coli see familial adenomatous polyposis | ||
| Adenomatous Polyposis of the Colon see familial adenomatous polyposis | ||
| ADP see ALAD deficiency porphyria | ||
| Adenylosuccinate Lyase Deficiency | ||
| Adrenal Gland Disorders see 21-hydroxylase deficiency | ||
| Adrenogenital syndrome see 21-hydroxylase deficiency | ||
| Adrenoleukodystrophy | ||
| AIP see acute intermittent porphyria | ||
| AIS see androgen insensitivity syndrome | ||
| AKU see alkaptonuria | ||
| ALA dehydratase porphyria see ALAD deficiency porphyria | ||
| ALA-D porphyria see ALAD deficiency porphyria | ||
| ALAD deficiency porphyria | ||
| Alcaptonuria see alkaptonuria | ||
| Alexander disease | ||
| alkaptonuria | ||
| Alkaptonuric ochronosis see alkaptonuria | ||
| alpha-1 antitrypsin deficiency | ||
| alpha-1 proteinase inhibitor see alpha-1 antitrypsin deficiency | ||
| alpha-1 related emphysema see alpha-1 antitrypsin deficiency | ||
| Alpha-galactosidase A deficiency see Fabry disease | ||
| ALS see amyotrophic lateral sclerosis | ||
| Alström syndrome | ||
| ALX see Alexander disease | ||
| Alzheimer disease | ||
| Alzheimer's disease see Alzheimer disease | ||
| Amelogenesis Imperfecta see Amelogenesis imperfecta | ||
| Amino levulinic acid dehydratase deficiency see ALAD deficiency porphyria | ||
| Aminoacylase 2 deficiency see Canavan disease | ||
| amyotrophic lateral sclerosis | ||
| Anderson-Fabry disease see Fabry disease | ||
| androgen insensitivity syndrome | ||
| Anemia | ||
| Anemia, hereditary sideroblastic see X-linked sideroblastic anemia | ||
| Anemia, sex-linked hypochromic sideroblastic see X-linked sideroblastic anemia | ||
| Anemia, splenic, familial see Gaucher disease | ||
| Angelman syndrome | ||
| Angiokeratoma Corporis Diffusum see Fabry disease | ||
| Angiokeratoma diffuse see Fabry disease | ||
| Angiomatosis retinae see von Hippel-Lindau disease | ||
| ANH1 see X-linked sideroblastic anemia | ||
| APC resistance, Leiden type see factor V Leiden thrombophilia | ||
| Apert syndrome | ||
| AR deficiency see androgen insensitivity syndrome | ||
| AR-CMT2 see Charcot-Marie-Tooth disease, type 2 | ||
| Arachnodactyly see Marfan syndrome | ||
| ARNSHL see nonsyndromic deafness, autosomal recessive | ||
| Arthro-ophthalmopathy, hereditary progressive see Stickler syndrome, COL2A1 | ||
| Arthrochalasis multiplex congenita see Ehlers-Danlos syndrome, arthrochalasia type | ||
| AS see Angelman syndrome | ||
| Asp deficiency see Canavan disease | ||
| Aspa deficiency see Canavan disease | ||
| Aspartoacylase deficiency see Canavan disease | ||
| ataxia-telangiectasia | ||
| Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome see Rett syndrome | ||
| autosomal dominant juvenile ALS see amyotrophic lateral sclerosis, type 4 | ||
| autosomal recessive form of juvenile ALS type 3 see amyotrophic lateral sclerosis, type 2 | ||
| Autosomal recessive nonsyndromic hearing loss see nonsyndromic deafness, autosomal recessive | ||
| Autosomal Recessive Sensorineural Hearing Impairment and Goiter see Pendred syndrome | ||
| AxD see Alexander disease | ||
| Ayerza syndrome see primary pulmonary hypertension |
B
C
D
| Disorder | Mutation | Chromosome |
|---|---|---|
| D-glycerate dehydrogenase deficiency see hyperoxaluria, primary | ||
| Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type | ||
| DAT - Dementia Alzheimer's type see Alzheimer disease | ||
| DBMD see muscular dystrophy, Duchenne and Becker types | ||
| Deafness with goiter see Pendred syndrome | ||
| Deafness-retinitis pigmentosa syndrome see Usher syndrome | ||
| Deficiency disease, Phenylalanine Hydroxylase see phenylketonuria | P | 12q |
| Degenerative Nerve diseases | ||
| Dejerine-Sottas syndrome see Charcot-Marie-Tooth disease | ||
| Delta-aminolevulinate dehydratase deficiency porphyria see ALAD deficiency porphyria | ||
| Dementia see CADASIL | ||
| demyelinogenic leukodystrophy see Alexander disease | ||
| Dermatosparactic type of Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, dermatosparaxis type | ||
| Dermatosparaxis see Ehlers-Danlos syndrome, dermatosparaxis type | ||
| Developmental Disabilities | ||
| dHMN see amyotrophic lateral sclerosis, type 4 | ||
| DHMN-V see distal spinal muscular atrophy, type V | ||
| DHTR deficiency see androgen insensitivity syndrome | X | |
| Diffuse Globoid Body Sclerosis see Krabbe disease | ||
| Dihydrotestosterone receptor deficiency see androgen insensitivity syndrome | X | |
| distal spinal muscular atrophy, type V | ||
| DM1 see myotonic dystrophy, type 1 | Trinucleotide repeat | 19 |
| DM2 see myotonic dystrophy, type 2 | Trinucleotide repeat | 3 |
| Down syndrome | ||
| DSMAV see distal spinal muscular atrophy, type V | ||
| DSN see Charcot-Marie-Tooth disease, type 4 | ||
| DSS see Charcot-Marie-Tooth disease, type 4 | ||
| Duchenne/Becker muscular dystrophy see muscular dystrophy, Duchenne and Becker types | ||
| Dwarf, achondroplastic see achondroplasia | 3 | |
| Dwarf, thanatophoric see thanatophoric dysplasia | ||
| Dwarfism | ||
| Dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome | ||
| dysmyelinogenic leukodystrophy see Alexander disease | ||
| Dystrophia myotonica see myotonic dystrophy | Trinucleotide repeat | 19 |
| dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome |
E
| Disorder | Mutation | Chromosome |
|---|---|---|
| Early-Onset familial Alzheimer disease (EOFAD) see Alzheimer disease, type 1 see Alzheimer disease, type 3 see Alzheimer disease, type 4 | ||
| EDS see Ehlers-Danlos syndrome | ||
| Ehlers-Danlos syndrome | ||
| Ekman-Lobstein disease see osteogenesis imperfecta | ||
| entrapment neuropathy see hereditary neuropathy with liability to pressure palsies | ||
| Epiloia see tuberous sclerosis | ||
| EPP see erythropoietic protoporphyria | ||
| Erythroblastic Anemia see beta thalassemia | ||
| Erythrohepatic protoporphyria see erythropoietic protoporphyria | ||
| Erythroid 5-aminolevulinate synthetase deficiency see X-linked sideroblastic anemia | ||
| Erythropoietic Porphyria see congenital erythropoietic porphyria | ||
| erythropoietic protoporphyria | ||
| Erythropoietic uroporphyria see congenital erythropoietic porphyria | ||
| Eye cancer see retinoblastoma FA - Friedreich ataxia see Friedreich ataxia |
F
| Disorder | Mutation | Chromosome |
|---|---|---|
| Fabry disease | ||
| Facial Injuries and Disorders | ||
| factor V Leiden thrombophilia | ||
| FALS see amyotrophic lateral sclerosis | ||
| familial Acoustic Neuromas see neurofibromatosis 2 | ||
| familial adenomatous polyposis | ||
| familial Alzheimer disease (FAD) see Alzheimer disease | ||
| familial amyotrophic lateral sclerosis see amyotrophic lateral sclerosis | ||
| familial dysautonomia | ||
| familial fat-induced hypertriglyceridemia see lipoprotein lipase deficiency, familial | ||
| familial Hemochromatosis see hemochromatosis | ||
| familial LPL deficiency see lipoprotein lipase deficiency, familial | ||
| familial nonpolyposis colon cancer see hereditary nonpolyposis colorectal cancer | ||
| familial paroxysmal polyserositis see Mediterranean fever, familial | ||
| familial PCT see porphyria cutanea tarda | ||
| familial pressure sensitive neuropathy see hereditary neuropathy with liability to pressure palsies | ||
| familial primary pulmonary hypertension (FPPH) see primary pulmonary hypertension | ||
| familial Turner syndrome see Noonan syndrome | ||
| familial vascular leukoencephalopathy see CADASIL | ||
| FAP see familial adenomatous polyposis | ||
| FD see familial dysautonomia | ||
| Female Pseudo-Turner syndrome see Noonan syndrome | ||
| Ferrochelatase deficiency see erythropoietic protoporphyria | ||
| ferroportin disease see hemochromatosis, type 4 | ||
| Fever see Mediterranean fever, familial | ||
| FGFR3-associated coronal synostosis see Muenke syndrome | ||
| fibrinoid degeneration of astrocytes see Alexander disease | ||
| Fibrocystic disease of Pancreas see cystic fibrosis | ||
| FMF see Mediterranean fever, familial | ||
| Folling disease see phenylketonuria | ||
| fra(X) syndrome see fragile X syndrome | ||
| fragile X syndrome | ||
| Fragilitas ossium see osteogenesis imperfecta | ||
| FRAXA syndrome see fragile X syndrome | ||
| FRDA see Friedreich ataxia | ||
| Friedreich ataxia | ||
| FXS see fragile X syndrome |
G
| Disorder | Mutation | Chromosome | |
|---|---|---|---|
| G6PD deficiency | |||
| Galactokinase Deficiency disease see galactosemia | |||
| Galactose-1-Phosphate Uridyl-Transferase Deficiency disease see galactosemia | |||
| galactosemia | |||
| Galactosylceramidase Deficiency disease see Krabbe disease | |||
| Galactosylceramide lipidosis see Krabbe disease | |||
| galactosylcerebrosidase deficiency see Krabbe disease | |||
| galactosylsphingosine lipidosis see Krabbe disease | |||
| GALC deficiency see Krabbe disease | |||
| GALT Deficiency see galactosemia | |||
| Gaucher disease | |||
| Gaucher-Like disease see pseudo-Gaucher disease | |||
| GBA deficiency see Gaucher disease type 1 | |||
| GD see Gaucher's disease | |||
| Genetic Brain Disorders | |||
| genetic emphysema see alpha-1 antitrypsin deficiency | |||
| genetic hemochromatosis see hemochromatosis | |||
| Giant cell hepatitis, neonatal see hemochromatosis, neonatal | |||
| GLA deficiency see Fabry disease | |||
| Glioblastoma, retinal see retinoblastoma | |||
| Glioma, retinal see retinoblastoma | |||
| globoid cell leukodystrophy (GCL, GLD) see Krabbe disease | |||
| globoid cell leukoencephalopathy see Krabbe disease | |||
| Glucocerebrosidase deficiency see Gaucher disease | |||
| Glucocerebrosidosis see Gaucher disease | |||
| Glucosyl cerebroside lipidosis see Gaucher disease | |||
| Glucosylceramidase deficiency see Gaucher disease | |||
| Glucosylceramide beta-glucosidase deficiency see Gaucher disease | |||
| Glucosylceramide lipidosis see Gaucher disease | |||
| glyceric aciduria see hyperoxaluria, primary | |||
| glycolic aciduria see hyperoxaluria, primary | |||
| GM2 gangliosidosis, type 1 see Tay-Sachs disease | |||
| Goiter-deafness syndrome see Pendred syndrome | |||
| Graefe-Usher syndrome see Usher syndrome | |||
| Gronblad-Strandberg syndrome see pseudoxanthoma elasticum | |||
| Guenther porphyria see congenital erythropoietic porphyria | |||
| Gunther disease see congenital erythropoietic porphyria |
H
| Disorder | Mutation | Chromosome |
|---|---|---|
| Haemochromatosis see hemochromatosis | ||
| Hallgren syndrome see Usher syndrome | ||
| Hb S disease see sickle cell anemia | ||
| HCH see hypochondroplasia | ||
| HCP see hereditary coproporphyria | ||
| Head and Brain Malformations | ||
| Hearing Disorders and Deafness | ||
| Hearing Problems in Children | ||
| HEF2A see hemochromatosis, type 2 | ||
| HEF2B see hemochromatosis, type 2 | ||
| Hematoporphyria see porphyria | ||
| Heme synthetase deficiency see erythropoietic protoporphyria | ||
| Hemochromatoses see hemochromatosis | ||
| hemochromatosis | ||
| hemoglobin M disease see methemoglobinemia, beta-globin type | ||
| Hemoglobin S disease see sickle cell anemia | ||
| hemophilia | ||
| HEP see hepatoerythropoietic porphyria | ||
| hepatic AGT deficiency see hyperoxaluria, primary | ||
| hepatoerythropoietic porphyria | ||
| Hepatolenticular degeneration syndrome see Wilson disease | ||
| hereditary arthro-ophthalmopathy see Stickler syndrome | ||
| hereditary coproporphyria | ||
| hereditary dystopic lipidosis see Fabry disease | ||
| hereditary Hemochromatosis (HHC) see hemochromatosis | ||
| hereditary iron-loading anemia see X-linked sideroblastic anemia | ||
| hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease | ||
| hereditary motor neuronopathy see spinal muscular atrophy | ||
| hereditary motor neuronopathy, type V see distal spinal muscular atrophy, type V | ||
| hereditary neuropathy with liability to pressure palsies | ||
| hereditary nonpolyposis colorectal cancer | DNA mismatch repair dysfunction usually in MSH2 and MLH1 genes | usually chromosomes 2 and 3 |
| hereditary Periodic Fever syndromes see Mediterranean fever, familial | ||
| hereditary Polyposis Coli see familial adenomatous polyposis | ||
| hereditary pulmonary emphysema see alpha-1 antitrypsin deficiency | ||
| hereditary resistance to activated protein C see factor V Leiden thrombophilia | ||
| hereditary sensory and autonomic neuropathy type III see familial dysautonomia | ||
| hereditary Spastic Paraplegia see infantile-onset ascending hereditary spastic paralysis | ||
| hereditary spinal ataxia see Friedreich ataxia | ||
| hereditary Spinal Sclerosis see Friedreich ataxia | ||
| Herrick's anemia see sickle cell anemia | ||
| Heterozygous OSMED see Weissenbacher-Zweymüller syndrome | ||
| Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymüller syndrome | ||
| HexA deficiency see Tay-Sachs disease | ||
| Hexosaminidase A deficiency see Tay-Sachs disease | ||
| Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease | ||
| HFE-associated hemochromatosis see hemochromatosis | ||
| HGPS see Hutchinson-Gilford progeria syndrome | ||
| Hippel-Lindau disease see von Hippel-Lindau disease | ||
| HLAH see hemochromatosis | ||
| HMN V see distal spinal muscular atrophy, type V | ||
| HMSN see Charcot-Marie-Tooth disease | ||
| HNPCC see hereditary nonpolyposis colorectal cancer | ||
| HNPP see hereditary neuropathy with liability to pressure palsies | ||
| homocystinuria | ||
| Homogentisic acid oxidase deficiency see alkaptonuria | ||
| Homogentisic acidura see alkaptonuria | ||
| Homozygous porphyria cutanea tarda see hepatoerythropoietic porphyria | ||
| HP1 see hyperoxaluria, primary | ||
| HP2 see hyperoxaluria, primary | ||
| HPA see hyperphenylalaninemia | ||
| HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome | ||
| HSAN Type III see familial dysautonomia | ||
| HSAN3 see familial dysautonomia | ||
| HSN-III see familial dysautonomia | ||
| Human dermatosparaxis see Ehlers-Danlos syndrome, dermatosparaxis type | ||
| Huntington disease | Trinucleotide repeat | gene IT-15 on chromosome 4 |
| Huntington's disease see Huntington disease | ||
| Hutchinson-Gilford progeria syndrome | ||
| Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency see 21-hydroxylase deficiency | ||
| Hyperchylomicronemia, familial see lipoprotein lipase deficiency, familial | ||
| hyperglycinemia with ketoacidosis and leukopenia see propionic acidemia | ||
| Hyperlipoproteinemia Type I see lipoprotein lipase deficiency, familial | ||
| hyperoxaluria, primary | ||
| hyperphenylalaninaemia see hyperphenylalaninemia | ||
| hyperphenylalaninemia | ||
| Hypochondrodysplasia see hypochondroplasia | ||
| hypochondrogenesis | ||
| hypochondroplasia | ||
| Hypochromic anemia see X-linked sideroblastic anemia | ||
| Hypocupremia, Congenital see Menkes syndrome | ||
| hypoxanthine phosphoribosyltransferse (HPRT) deficiency see Lesch-Nyhan syndrome |
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