ORPHA:183518
Hereditary ataxia
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary ataxia | |
| fr | Ataxie héréditaire | |
| de | Ataxie, hereditäre | |
| es | Ataxia hereditaria | |
| it | Atassia ereditaria | |
| nl | Hereditaire ataxie | Erfelijke ataxie |
| pt | Ataxia hereditária | |
| pl | Rzadka dziedziczna ataksja | Dziedziczna ataksja |
| cs | Vzácné geneticky podmíněné ataxie | |
| uk | Спадкова атаксія | |
| zh | 罕见遗传性共济失调 | |
| tr | Nadir kalıtsal ataksi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0100309 | E | validated | |
| UMLS | C0004138 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:102002Rare ataxia
rare neurological diseases - ORPHA:71859Rare genetic neurological disorder
rare genetic diseases
Children (25):
- ORPHA:1180Ataxia-hypogonadism-choroidal dystrophy syndrome
- ORPHA:1184Ataxia-photosensitivity-short stature syndrome
- ORPHA:1178Ataxia-tapetoretinal degeneration syndrome
- ORPHA:99Autosomal dominant cerebellar ataxia
- ORPHA:1172Autosomal recessive cerebellar ataxia
- ORPHA:1368Cataract-ataxia-deafness syndrome
- ORPHA:1173Cerebellar ataxia-hypogonadism syndrome
- ORPHA:199343EAST syndrome
- ORPHA:211062Hereditary episodic ataxia
- ORPHA:599376Hypomyelination of early myelinating structures
- ORPHA:2274Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
- ORPHA:445062Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
- ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- ORPHA:2579Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
- ORPHA:2589Myoclonus-cerebellar ataxia-deafness syndrome
- ORPHA:2672Neuhauser-Eichner-Opitz syndrome
- ORPHA:572543RFVT2-related riboflavin transporter deficiency
- ORPHA:1399Richards-Rundle syndrome
- ORPHA:1236Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
- ORPHA:316226Spastic ataxia
- ORPHA:99013Spastic paraplegia type 7
- ORPHA:1185Spinocerebellar ataxia-dysmorphism syndrome
- ORPHA:3177Spinocerebellar degeneration-corneal dystrophy syndrome
- ORPHA:447896Tremor-ataxia-central hypomyelination syndrome
- ORPHA:247765X-linked cerebellar ataxia
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 22689585[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/183518
- This record as JSON: /data/d/183518.json