ORPHA:98096
Autosomal recessive metabolic cerebellar ataxia
- 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 metabolic cerebellar ataxia | |
| fr | Ataxie cérébelleuse autosomique récessive d'origine métabolique | |
| de | Ataxie, zerebelläre, autosomal-rezessive, metabolische | |
| es | Ataxia cerebelosa metabólica autosómica recesiva | |
| it | Atassia cerebellare metabolica, autosomica recessiva | |
| nl | Autosomaal recessieve metabole cerebellaire ataxie | |
| pt | Ataxia cerebelosa metabólica autossómica recessiva | |
| pl | Autosomalna recesywna metaboliczna ataksja możdżkowa | |
| cs | Autozomálně recesivní metabolická cerebelární ataxie | |
| uk | Аутосомно-рецесивна метаболічна мозочкова атаксія | |
| zh | 常染色体隐性遗传代谢性小脑共济失调 | |
| tr | Otozomal resesif metabolik serebellar ataksi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0020044 | E | validated | |
| UMLS | C5681517 | 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:1172Autosomal recessive cerebellar ataxia
rare genetic diseases; rare neurological diseases
Children (12):
- ORPHA:14Abetalipoproteinemia
- ORPHA:773Adult Refsum disease
- ORPHA:96Ataxia with vitamin E deficiency
- ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiency
- ORPHA:642954Autosomal recessive ataxia due to PEX16 deficiency
- ORPHA:642965Autosomal recessive ataxia due to PEX2 deficiency
- ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticity
- ORPHA:363429Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
- ORPHA:909Cerebrotendinous xanthomatosis
- ORPHA:772Infantile Refsum disease
- ORPHA:94125Recessive mitochondrial ataxia syndrome
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98096
- This record as JSON: /data/d/98096.json