ORPHA:316240
Autosomal recessive spastic ataxia
Synonyms: AR-SPAX
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- 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 | Autosomal recessive spastic ataxia | AR-SPAX |
| fr | Ataxie spastique autosomique récessive | |
| de | Spastische Ataxie, autosomal-rezessive | = en |
| es | Ataxia espástica autosómica recesiva | = en |
| it | Atassia spastica autosomica recessiva | = en |
| nl | Autosomaal recessieve spastische ataxie | = en |
| pt | Ataxia espástica autossómica recessiva | = en |
| pl | Autosomalna recesywna ataksja spastyczna | = en |
| cs | Autozomálně recesivní spastická ataxie | = en |
| uk | Аутосомно-рецесивна спастична атаксія | = en |
| zh | 常染色体隐性遗传痉挛性共济失调 | 常染色体隐性SPAX |
| tr | Otozomal resesif spastik ataksi | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017847 | E | validated | |
| MONDO | 17847 | E | validated | |
| UMLS | C5679900 | 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 (1):
- ORPHA:316226Spastic ataxia
rare genetic diseases; rare neurological diseases
Children (8):
- ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- ORPHA:314603Autosomal recessive spastic ataxia with leukoencephalopathy
- ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
- ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
- ORPHA:728432PLA2G6-related neurodegeneration, juvenile-onset
- ORPHA:2572Spastic ataxia-corneal dystrophy syndrome
- ORPHA:557056Spastic ataxia-dysarthria due to glutaminase deficiency
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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/316240
- This record as JSON: /data/d/316240.json