ORPHA:1168
Ataxia-oculomotor apraxia type 1
Synonyms: AOA1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ataxia-oculomotor apraxia type 1 | AOA1 |
| fr | Syndrome d'ataxie-apraxie oculo-motrice type 1 | = en |
| de | Ataxie mit okulomotorischer Apraxie Typ 1 | = en |
| es | Ataxia-apraxia oculomotora tipo 1 | = en |
| it | Atassia-aprassia oculomotoria tipo 1 | AOA |
| nl | Ataxie - oculomotorische apraxie type 1 | = en |
| pt | Ataxia-apraxia oculo-motora tipo 1 | AOA |
| pl | Ataksja - apraksja gałkoruchowa typu 1 | = en |
| cs | Ataxie a okulomotorická apraxie, typ 1 | = en |
| uk | Атаксія-окуломоторна апраксія, тип 1 | = en |
| zh | 共济失调动眼运用不能I型 | AOA1型 |
| tr | Ataksi-okülomotor apraksi tip 1 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 208920 | E | validated | |
| ICD-10 | G11.3 | NTBT | attributed | validated |
| ICD-11 | 5C53.22 | NTBT | index | validated |
| MONDO | 0008842 | E | validated | |
| MeSH | C538013 | E | validated | |
| UMLS | C1859598 | E | validated | |
| GARD | 9283 | 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 (3):
- ORPHA:98097Autosomal recessive cerebellar ataxia due to a DNA repair defect
rare genetic diseases; rare neurological diseases - ORPHA:519341Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare ophthalmic disorders - ORPHA:522506Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| APTX | Disease-causing germline mutation(s) in | Assessed | HGNC:15984 | ENSG00000137074 | 606350 | 9p21.1 | aprataxin | 20301629[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001251 | Ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0010747 | Medial flaring of the eyebrow | |
| HP:0009830 | Peripheral neuropathy | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1168
- This record as JSON: /data/d/1168.json