ORPHA:79136
Episodic ataxia type 4
Synonyms: PATX · Periodic vestibulocerebellar ataxia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Episodic ataxia type 4 | PATX · Periodic vestibulocerebellar ataxia |
| fr | Ataxie épisodique type 4 | Ataxie vestibulo-cérébelleuse périodique |
| de | Ataxie, episodische, Typ 4 | Periodische vestibulo-zerebelläre Ataxie (PATX) |
| es | Ataxia episódica tipo 4 | |
| it | Atassia episodica, tipo 4 | Atassia vestibolocerebellare periodica · PATX |
| nl | Episodische ataxie type 4 | PATX · Periodieke vestibulocerebellaire ataxie |
| pt | Ataxia episódica tipo 4 | Ataxia vestibulocerebelosa periódica · PATX |
| pl | Epizodyczna ataksja typu 4 | Okresowa ataksja przedsionkowo-móżdżkowa · PATX |
| cs | Epizodická ataxie, typ 4 | PATX · Periodická vestibulocerebelární ataxie |
| uk | Епізодична атаксія, тип 4 | PATX · Періодична вестибуло-мозочкова атаксія |
| zh | 发作性共济失调4型 | 周期性前庭小脑共济失调 |
| tr | Epizodik ataksi tip 4 | PATX · Periyodik vestibüloserebellar ataksi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606552 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.14 | NTBT | index | validated |
| MONDO | 0011681 | E | validated | |
| MeSH | C564698 | E | validated | |
| UMLS | C1847843 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:211062Hereditary episodic ataxia
rare genetic diseases; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 8929156[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8929156[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.
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HPO phenotypes
10 annotations · validated 2018-02-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| Frequent (79-30%) | ||
| HP:0002457 | Abnormal head movements | |
| HP:0000617 | Abnormality of ocular smooth pursuit | |
| HP:0000651 | Diplopia | |
| HP:0002359 | Frequent falls | |
| HP:0000640 | Gaze-evoked nystagmus | |
| HP:0002311 | Incoordination | |
| HP:0002172 | Postural instability | |
| HP:0002321 | Vertigo | |
| Occasional (29-5%) | ||
| HP:0002018 | Nausea | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 13944410[PMID]_26264377[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79136
- This record as JSON: /data/d/79136.json