List of genetic disorders
The following is a list of genetic disorders and if known, causal type of mutation and the chromosome involved.An example is down syndrome. The list of human genes includes genes not listed here, which also affect predisposition toward certain diseases.
- 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 chromosomal aberrations
- T - Trinucleotide repeat disorders - gene is extended in length
More common disorders
| Disorder | Mutation | Chromosome |
|---|---|---|
| 22q11.2 deletion syndrome | D | SAM K |
| Angelman syndrome | DCP | 15 |
| Canavan disease | 17p | |
| Celiac disease | ||
| Charcot-Marie-Tooth disease | ||
| Color blindness | P | X |
| Cri du chat | D | 5 |
| Cystic fibrosis | P | 7q |
| Down syndrome | C | 21 |
| Duchenne muscular dystrophy | D | Xp |
| Haemophilia | P | X |
| Klinefelter syndrome | C | X |
| Neurofibromatosis | 17q/22q/? | |
| Phenylketonuria | P | 12q |
| Prader-Willi syndrome | DC | 15 |
| Sickle-cell disease | P | 11p |
| Tay-Sachs disease | P | 15 |
| Turner syndrome | C | X |
0–9
| Disorder | Mutation | Chromosome |
|---|---|---|
| 1p36 deletion syndrome | D | 1p37 |
| 18p deletion syndrome | D | 18p |
| 21-hydroxylase deficiency | 6p21.3 | |
| 45,X see Turner syndrome |
C | X |
| 47,XX,+21 see Down syndrome |
C | 21 |
| 47,XXX see triple X syndrome |
C | X |
| 47,XXY see Klinefelter syndrome |
C | X |
| 47,XY,+21 see Down syndrome |
C | 21 |
| 47,XYY syndrome | C | Y |
| 5-ALA dehydratase-deficient porphyria see ALA dehydratase deficiency |
||
| 5-aminolaevulinic dehydratase deficiency porphyria see ALA dehydratase deficiency |
||
| 5p deletion syndrome see Cri du chat |
D | 5p |
| 5p- syndrome see Cri du chat |
D | 5p |
A
B
| Disorder | Mutation | Chromosome |
|---|---|---|
| B variant of the Hexosaminidase GM2 gangliosidosis see Sandhoff disease |
||
| BANF see neurofibromatosis 2 |
||
| Beare-Stevenson cutis gyrata syndrome | 10q26 | |
| Benign paroxysmal peritonitis see Mediterranean fever, familial |
||
| Benjamin syndrome | ||
| beta thalassemia | ||
| BH4 Deficiency see tetrahydrobiopterin deficiency |
||
| Bilateral Acoustic Neurofibromatosis see neurofibromatosis 2 |
||
| biotinidase deficiency | ||
| bladder cancer | ||
| Bleeding disorders see factor V Leiden thrombophilia |
||
| Bloch-Sulzberger syndrome see incontinentia pigmenti |
||
| Bloom syndrome | 15q26.1 | |
| Bone diseases | ||
| Bone marrow diseases see X-linked sideroblastic anemia |
||
| Bonnevie-Ullrich syndrome see Turner syndrome |
||
| Bourneville disease see tuberous sclerosis |
||
| Bourneville phakomatosis see tuberous sclerosis |
||
| Brain diseases see prion disease |
||
| breast cancer | ||
| Birt-Hogg-Dubé syndrome | 17 | |
| Brittle bone disease see osteogenesis imperfecta |
||
| Broad Thumb-Hallux syndrome see Rubinstein-Taybi syndrome |
||
| Bronze Diabetes see hemochromatosis |
||
| Bronzed cirrhosis see hemochromatosis |
||
| Bulbospinal muscular atrophy, X-linked see Kennedy disease |
||
| Burger-Grutz syndrome see lipoprotein lipase deficiency, familial |
C
| Disorder | Mutation | Chromosome |
|---|---|---|
| CADASIL | P | 3 |
| CGD Chronic Granulomatous Disorder | ||
| Camptomelic dysplasia | C | 17q24.3-q25.1 |
| Canavan disease | ||
| Cancer | ||
| Cancer Family syndrome see hereditary nonpolyposis colorectal cancer |
||
| Cancer of breast see breast cancer |
||
| Cancer of the bladder see bladder cancer |
||
| Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency |
P | 3 |
| Cardiomyopathy see Noonan syndrome |
||
| Cat cry syndrome see Cri du chat |
||
| CAVD see congenital bilateral absence of vas deferens |
||
| Caylor cardiofacial syndrome see 22q11.2 deletion syndrome |
D | 22q |
| CBAVD see congenital bilateral absence of vas deferens |
||
| Celiac Disease | ||
| CEP see congenital erythropoietic porphyria |
||
| Ceramide trihexosidase deficiency see Fabry disease |
X | |
| Cerebelloretinal Angiomatosis, familial see von Hippel-Lindau disease |
P | 3 (p26-p25) |
| Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy see CADASIL |
P | 3 |
| Cerebral autosomal dominant ateriopathy with subcortical infarcts and leukoencephalopathy see CADASIL |
P | 3 |
| Cerebral sclerosis see tuberous sclerosis |
9 (q34), 16 (p13.3) | |
| Cerebroatrophic Hyperammonemia see Rett syndrome |
X | |
| Cerebroside Lipidosis syndrome see Gaucher disease |
P | 1(q21) |
| CF see cystic fibrosis |
D (most common); or substitution |
CFTR (7q31.2) |
| CH see congenital hypothyroidism |
||
| Charcot disease see amyotrophic lateral sclerosis |
||
| Charcot-Marie-Tooth disease | ||
| Chondrodystrophia see achondroplasia |
||
| Chondrodystrophy syndrome see achondroplasia |
||
| Chondrodystrophy with sensorineural deafness see otospondylomegaepiphyseal dysplasia |
||
| Chondrogenesis imperfecta see achondrogenesis, type II |
||
| Choreoathetosis self-mutilation hyperuricemia syndrome see Lesch-Nyhan syndrome |
P | X |
| Classic Galactosemia see galactosemia |
P | 9 (p13) |
| Classical Ehlers-Danlos syndrome see Ehlers-Danlos syndrome#classical type |
||
| Classical Phenylketonuria see phenylketonuria |
||
| Cleft lip and palate see Stickler syndrome |
||
| Cloverleaf skull with thanatophoric dwarfism see Thanatophoric dysplasia#type 2 |
||
| CLS see Coffin-Lowry syndrome |
||
| CMT see Charcot-Marie-Tooth disease |
||
| Cockayne syndrome | ||
| Coffin-Lowry syndrome | ||
| collagenopathy, types II and XI | ||
| Colon Cancer, familial Nonpolyposis see hereditary nonpolyposis colorectal cancer |
||
| Colon cancer, familial see familial adenomatous polyposis |
||
| Colorectal Cancer | ||
| Complete HPRT deficiency see Lesch-Nyhan syndrome |
||
| Complete hypoxanthine-guanine phosphoribosy transferase deficiency see Lesch-Nyhan syndrome |
||
| Compression neuropathy see hereditary neuropathy with liability to pressure palsies |
||
| Congenital adrenal hyperplasia see 21-hydroxylase deficiency |
||
| congenital bilateral absence of vas deferens see Congenital absence of the vas deferens |
||
| Congenital erythropoietic porphyria | ||
| Congenital heart disease | ||
| Congenital hypomyelination see Charcot-Marie-Tooth disease#Type 1 see Charcot-Marie-Tooth disease#Type 4 |
||
| Congenital hypothyroidism | ||
| Congenital methemoglobinemia see Methemoglobinemia#Congenital methaemoglobinaemia |
||
| Congenital osteosclerosis see achondroplasia |
||
| Congenital sideroblastic anaemia see X-linked sideroblastic anemia |
X | |
| Connective tissue disease | ||
| Conotruncal anomaly face syndrome see 22q11.2 deletion syndrome |
D | 22q |
| Cooley's Anemia see beta thalassemia |
||
| Copper storage disease see Wilson disease |
13 (q14.3) | |
| Copper transport disease see Menkes disease |
||
| Coproporphyria, hereditary see hereditary coproporphyria |
||
| Coproporphyrinogen oxidase deficiency see hereditary coproporphyria |
||
| Cowden syndrome | ||
| CPO deficiency see hereditary coproporphyria |
||
| CPRO deficiency see hereditary coproporphyria |
||
| CPX deficiency see hereditary coproporphyria |
||
| Craniofacial dysarthrosis see Crouzon syndrome |
||
| Craniofacial Dysostosis see Crouzon syndrome |
||
| Cretinism see congenital hypothyroidism |
||
| Creutzfeldt-Jakob disease see prion disease |
||
| Cri du chat | D | 5p |
| Crohn's disease, fibrostenosing | P | 16q12 |
| Crouzon syndrome | FGFR2 (10q25.3-q26) | |
| Crouzon syndrome with acanthosis nigricans see Crouzonodermoskeletal syndrome |
||
| Crouzonodermoskeletal syndrome | ||
| CS see Cockayne syndrome see Cowden syndrome |
||
| Curschmann-Batten-Steinert syndrome see myotonic dystrophy |
||
| cutis gyrata syndrome of Beare-Stevenson see Beare-Stevenson cutis gyrata syndrome |
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 |
||
| Genetic hypercalciuria see Dent's disease |
Xp11.22 | |
| 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 | ||
| de Grouchy syndrome 1 see De Grouchy Syndrome |
D | 18p |
| Dejerine-Sottas syndrome see Charcot-Marie-Tooth disease |
||
| Delta-aminolevulinate dehydratase deficiency porphyria see ALA dehydratase deficiency |
||
| 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 |
||
| DiGeorge syndrome | D | 22q |
| Dihydrotestosterone receptor deficiency see androgen insensitivity syndrome |
X | |
| distal spinal muscular atrophy, type V | ||
| DM1 see Myotonic dystrophy#type 1 |
T | 19 |
| DM2 see Myotonic dystrophy#type 2 |
T | 3 |
| Down syndrome | 21 | |
| 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 |
T | 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
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 Neonatal hemochromatosis |
||
| 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 |
||
| Glycine encephalopathy see Nonketotic hyperglycinemia |
||
| 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 |
||
| Harlequin Ichthyosis | ||
| 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 | P | 3q12 |
| Hereditary dystopic lipidosis see Fabry disease |
||
| Hereditary hemochromatosis (HHC) see hemochromatosis |
||
| Hereditary Inclusion Body Myopathy see skeletal muscle regeneration | |
||
| 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 Multiple Exostoses | ||
| Hereditary nonpolyposis colorectal cancer | DNA mismatch repair dysfunction usually in MSH2 and MLH1 genes |
usually chromosomes 2 and 3 |
| Hereditary periodic fever syndrome 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 Progeria |
||
| 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's disease | T | 4p16.3 |
| Hutchinson-Gilford progeria syndrome see progeria |
||
| 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 |
I
| Disorder | Mutation | Chromosome |
|---|---|---|
| IAHSP see infantile-onset ascending hereditary spastic paralysis |
||
| idiopathic hemochromatosis see hemochromatosis, type 3 |
||
| Idiopathic neonatal hemochromatosis see hemochromatosis, neonatal |
||
| Idiopathic pulmonary hypertension see primary pulmonary hypertension |
||
| Immune system disorders see X-linked severe combined immunodeficiency |
||
| Incontinentia Pigmenti | P | Xq28 |
| Infantile cerebral Gaucher's disease see Gaucher disease type 2 |
||
| Infantile Gaucher disease see Gaucher disease type 2 |
||
| infantile-onset ascending hereditary spastic paralysis | ||
| Infertility | ||
| inherited emphysema see alpha-1 antitrypsin deficiency |
||
| Inherited human transmissible spongiform encephalopathies see prion disease |
||
| inherited tendency to pressure palsies see hereditary neuropathy with liability to pressure palsies |
||
| Insley-Astley syndrome see otospondylomegaepiphyseal dysplasia |
||
| Intermittent acute porphyria syndrome see acute intermittent porphyria |
||
| Intestinal polyposis-cutaneous pigmentation syndrome see Peutz-Jeghers syndrome |
||
| IP see incontinentia pigmenti |
||
| Iron storage disorder see hemochromatosis |
||
| Isodicentric 15 see idic15 |
Inv dup | 15q11-14 |
| Isolated deafness see nonsyndromic deafness |
J
| Disorder | Mutation | Chromosome |
|---|---|---|
| Jackson-Weiss syndrome | ||
| JH see Haemochromatosis#type 2 |
||
| Joubert syndrome | ||
| JPLS see Juvenile Primary Lateral Sclerosis |
ALS2 | |
| juvenile amyotrophic lateral sclerosis see Amyotrophic lateral sclerosis#type 2 |
||
| Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome |
||
| juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome |
||
| JWS see Jackson-Weiss syndrome |
K
| Disorder | Mutation | Chromosome |
|---|---|---|
| KD see X-linked spinal-bulbar muscle atrophy |
||
| Kennedy disease see X-linked spinal-bulbar muscle atrophy |
||
| Kennedy spinal and bulbar muscular atrophy see X-linked spinal-bulbar muscle atrophy |
||
| Kerasin histiocytosis see Gaucher disease |
||
| Kerasin lipoidosis see Gaucher disease |
||
| Kerasin thesaurismosis see Gaucher disease |
||
| ketotic glycinemia see propionic acidemia |
||
| ketotic hyperglycinemia see propionic acidemia |
||
| Kidney diseases see hyperoxaluria, primary |
||
| Klinefelter syndrome | ||
| Klinefelter's syndrome see Klinefelter syndrome |
||
| Kniest dysplasia | ||
| Krabbe disease |
L
| Disorder | Mutation | Chromosome |
|---|---|---|
| Lacunar dementia see CADASIL |
||
| Langer-Saldino achondrogenesis see achondrogenesis, type II |
||
| Langer-Saldino dysplasia see achondrogenesis, type II |
||
| Late-onset Alzheimer disease see Alzheimer disease#type 2 |
||
| Late-onset familial Alzheimer disease (AD2) see Alzheimer disease#type 2 |
||
| late-onset Krabbe disease (LOKD) see Krabbe disease |
||
| Learning Disorders see Learning disability |
||
| Lentiginosis, perioral see Peutz-Jeghers syndrome |
||
| Lesch-Nyhan syndrome | ||
| Leukodystrophies | ||
| leukodystrophy with Rosenthal fibers see Alexander disease |
||
| Leukodystrophy, spongiform see Canavan disease |
||
| LFS see Li-Fraumeni syndrome |
||
| Li-Fraumeni syndrome | ||
| Lipase D deficiency see lipoprotein lipase deficiency, familial |
||
| LIPD deficiency see lipoprotein lipase deficiency, familial |
||
| Lipidosis, cerebroside see Gaucher disease |
||
| Lipidosis, ganglioside, infantile see Tay-Sachs disease |
||
| Lipoid histiocytosis (kerasin type) see Gaucher disease |
||
| lipoprotein lipase deficiency, familial | ||
| Liver diseases see galactosemia |
||
| Lou Gehrig disease see amyotrophic lateral sclerosis |
||
| Louis-Bar syndrome see ataxia-telangiectasia |
||
| Lynch syndrome see hereditary nonpolyposis colorectal cancer |
||
| Lysyl-hydroxylase deficiency see Ehlers-Danlos syndrome#kyphoscoliosis type |
M
| Disorder | Mutation | Chromosome |
|---|---|---|
| Machado-Joseph disease see Spinocerebellar ataxia#type 3 |
||
| Male breast cancer see breast cancer |
||
| Male genital disorders | ||
| Male Turner syndrome see Noonan syndrome |
||
| Malignant neoplasm of breast see breast cancer |
||
| malignant tumor of breast see breast cancer |
||
| Malignant tumor of urinary bladder see bladder cancer |
||
| Mammary cancer see breast cancer |
||
| Marfan syndrome | 15 | |
| Marker X syndrome see fragile X syndrome |
||
| Martin-Bell syndrome see fragile X syndrome |
||
| McCune-Albright syndrome | 20 q13.2-13.3 | |
| McLeod syndrome | X | |
| MEDNIK[1][2] | D | AP1S1 |
| Mediterranean Anemia see beta thalassemia |
||
| Mediterranean fever, familial | ||
| Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia |
||
| Menkea syndrome see Menkes syndrome |
||
| Menkes syndrome | ||
| Mental retardation with osteocartilaginous abnormalities see Coffin-Lowry syndrome |
||
| Metabolic disorders | ||
| Metatropic dwarfism, type II see Kniest dysplasia |
||
| Metatropic dysplasia type II see Kniest dysplasia |
||
| Methemoglobinemia#beta-globin type | ||
| methylmalonic acidemia | ||
| MFS see Marfan syndrome |
||
| MHAM see Cowden syndrome |
||
| MK see Menkes syndrome |
||
| Micro syndrome | 2q21.3 | |
| Microcephaly | P | 1q31 (ASPM) |
| MMA see methylmalonic acidemia |
||
| MNK see Menkes syndrome |
||
| Monosomy 1p36 syndrome see 1p36 deletion syndrome |
D | 1p36 |
| monosomy X see Turner syndrome |
||
| Motor neuron disease, amyotrophic lateral sclerosis see amyotrophic lateral sclerosis |
||
| Movement disorders | ||
| Mowat-Wilson syndrome | ||
| Mucopolysaccharidosis (MPS I) | ||
| Mucoviscidosis see cystic fibrosis |
||
| Muenke syndrome | ||
| Multi-Infarct dementia see CADASIL |
||
| Multiple carboxylase deficiency, late-onset see biotinidase deficiency |
||
| Multiple hamartoma syndrome see Cowden syndrome |
||
| Multiple neurofibromatosis see neurofibromatosis |
||
| Muscular dystrophy | ||
| Muscular dystrophy, Duchenne and Becker type | ||
| Myotonia atrophica see myotonic dystrophy |
||
| Myotonia dystrophica see myotonic dystrophy |
||
| myotonic dystrophy | ||
| Myxedema, congenital see congenital hypothyroidism |
N
O
| Disorder | Mutation | Chromosome |
|---|---|---|
| Ochronosis see alkaptonuria |
||
| Ochronotic arthritis see alkaptonuria |
||
| OI see osteogenesis imperfecta |
||
| OSMED see otospondylomegaepiphyseal dysplasia |
||
| osteogenesis imperfecta | ||
| Osteopsathyrosis see osteogenesis imperfecta |
||
| Osteosclerosis congenita see achondroplasia |
||
| Oto-spondylo-megaepiphyseal dysplasia see otospondylomegaepiphyseal dysplasia |
||
| otospondylomegaepiphyseal dysplasia | ||
| Oxalosis see hyperoxaluria, primary |
||
| Oxaluria, primary see hyperoxaluria, primary |
P
R
| Disorder | Mutation | Chromosome |
|---|---|---|
| Rb see retinoblastoma |
||
| Recklinghausen disease, nerve see neurofibromatosis 1 |
||
| Recurrent polyserositis see Mediterranean fever, familial |
||
| Retinal disorders | ||
| Retinitis pigmentosa-deafness syndrome see Usher syndrome |
||
| Retinoblastoma | ||
| Rett syndrome | ||
| RFALS type 3 see Amyotrophic lateral sclerosis#type 2 |
||
| Ricker syndrome see Myotonic dystrophy#type 2 |
||
| Riley-Day syndrome see familial dysautonomia |
||
| Roussy-Levy syndrome see Charcot-Marie-Tooth disease |
||
| RSTS see Rubinstein-Taybi syndrome |
||
| RTS see Rett syndrome see Rubinstein-Taybi syndrome |
||
| RTT see Rett syndrome |
||
| Rubinstein-Taybi syndrome |
S
T
| Disorder | Mutation | Chromosome |
|---|---|---|
| Tay-Sachs disease | ||
| TD - thanatophoric dwarfism see thanatophoric dysplasia |
||
| TD with straight femurs and cloverleaf skull see thanatophoric dysplasia#Type 2 |
||
| Telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia |
||
| Testicular feminization syndrome see androgen insensitivity syndrome |
||
| tetrahydrobiopterin deficiency | ||
| TFM - testicular feminization syndrome see androgen insensitivity syndrome |
||
| thalassemia intermedia see beta thalassemia |
||
| Thalassemia Major see beta thalassemia |
||
| thanatophoric dysplasia | ||
| thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness | ||
| Thrombophilia due to deficiency of cofactor for activated protein C, Leiden type see factor V Leiden thrombophilia |
||
| Thyroid disease | ||
| Tomaculous neuropathy see hereditary neuropathy with liability to pressure palsies |
||
| Total HPRT deficiency see Lesch-Nyhan syndrome |
||
| Total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome Tourette's Syndrome |
||
| Transmissible dementias see prion disease |
||
| Transmissible spongiform encephalopathies see prion disease |
||
| Treacher Collins syndrome | 5q32-q33.1 | |
| Trias fragilitis ossium see osteogenesis imperfecta#Type I |
||
| triple X syndrome | ||
| Triplo X syndrome see triple X syndrome |
||
| Trisomy 21 see Down syndrome |
||
| Trisomy X see triple X syndrome |
||
| Troisier-Hanot-Chauffard syndrome see hemochromatosis |
||
| TS see Turner syndrome |
||
| TSD see Tay-Sachs disease |
||
| TSEs see prion disease |
||
| tuberose sclerosis see tuberous sclerosis |
||
| tuberous sclerosis | ||
| Turner syndrome | ||
| Turner syndrome in female with X chromosome see Noonan syndrome |
||
| Turner's phenotype, karyotype normal see Noonan syndrome |
||
| Turner's syndrome see Turner syndrome |
||
| Turner-like syndrome see Noonan syndrome |
||
| Type 2 Gaucher disease see Gaucher disease type 2 |
||
| Type 3 Gaucher disease see Gaucher disease type 3 |
U
| Disorder | Mutation | Chromosome |
|---|---|---|
| UDP-galactose-4-epimerase deficiency disease see galactosemia |
||
| UDP glucose 4-epimerase deficiency disease see galactosemia |
||
| UDP glucose hexose-1-phosphate uridylyltransferase deficiency see galactosemia |
||
| Ullrich-Noonan syndrome see Noonan syndrome |
||
| Ullrich-Turner syndrome see Turner syndrome |
||
| Undifferentiated deafness see nonsyndromic deafness |
||
| UPS deficiency see acute intermittent porphyria |
||
| Urinary bladder cancer see bladder cancer |
||
| UROD deficiency see porphyria cutanea tarda |
||
| Uroporphyrinogen decarboxylase deficiency see porphyria cutanea tarda |
||
| Uroporphyrinogen synthase deficiency see acute intermittent porphyria |
||
| UROS deficiency see congenital erythropoietic porphyria |
||
| Usher syndrome | ||
| UTP hexose-1-phosphate uridylyltransferase deficiency see galactosemia |
V
| Disorder | Mutation | Chromosome |
|---|---|---|
| Van Bogaert-Bertrand syndrome see Canavan disease |
||
| Van der Hoeve syndrome see osteogenesis imperfecta#Type I |
||
| variegate porphyria | ||
| Velocardiofacial syndrome see 22q11.2 deletion syndrome |
D | 22q |
| VHL syndrome see von Hippel-Lindau disease |
||
| Vision impairment and blindness see Alstrom syndrome |
||
| Von Bogaert-Bertrand disease see Canavan disease |
||
| von Hippel-Lindau disease | ||
| Von Recklenhausen-Applebaum disease see hemochromatosis |
||
| von Recklinghausen disease see neurofibromatosis 1 |
||
| VP see variegate porphyria |
||
| Vrolik disease see osteogenesis imperfecta |
W
| Disorder | Mutation | Chromosome |
|---|---|---|
| Waardenburg syndrome | ||
| Warburg Sjo Fledelius Syndrome see Micro syndrome |
2q21.3 | |
| WD see Wilson disease |
||
| Weissenbacher-Zweymüller syndrome | ||
| Wilson disease | ||
| Wilson's disease see Wilson disease |
||
| Wolf-Hirschhorn syndrome | D | 4p |
| Wolff Periodic disease see Mediterranean fever, familial |
||
| WZS see Weissenbacher-Zweymüller syndrome |
X
| Disorder | Mutation | Chromosome |
|---|---|---|
| Xeroderma Pigmentosum | ERCC4 | 15 |
| X-linked mental retardation and macroorchidism see fragile X syndrome |
||
| X-linked primary hyperuricemia see Lesch-Nyhan syndrome |
||
| X-linked severe combined immunodeficiency | ||
| X-linked sideroblastic anemia | ||
| X-linked spinal-bulbar muscle atrophy see Kennedy disease |
||
| X-linked uric aciduria enzyme defect see Lesch-Nyhan syndrome |
||
| X-SCID see X-linked severe combined immunodeficiency |
||
| XLSA see X-linked sideroblastic anemia |
||
| XSCID see X-linked severe combined immunodeficiency |
||
| XXX syndrome see triple X syndrome |
||
| XXXX syndrome see 48, XXXX |
||
| XXXXX syndrome see 49, XXXXX |
||
| XXY syndrome see Klinefelter syndrome |
||
| XXY trisomy see Klinefelter syndrome |
||
| XYY karyotype see 47,XYY syndrome |
||
| XYY syndrome see 47,XYY syndrome |
Y
| Disorder | Mutation | Chromosome |
|---|---|---|
| YY syndrome see 47,XYY syndrome |