ORPHA:211067
Episodic ataxia type 5
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Episodic ataxia type 5 | |
| fr | Ataxie épisodique type 5 | |
| de | Ataxie, episodische, Typ 5 | |
| es | Ataxia episódica tipo 5 | |
| it | Atassia episodica, tipo 5 | |
| nl | Episodische ataxie type 5 | |
| pt | Ataxia episódica tipo 5 | |
| pl | Ataksja epizodyczna typu 5 | |
| cs | Epizodická ataxie, typ 5 | |
| uk | Епізодична атаксія, тип 5 | |
| zh | 发作性共济失调5型 | |
| tr | Epizodik ataksi tip 5 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613855 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.14 | NTBT | index | validated |
| MONDO | 0013464 | E | validated | |
| MeSH | C566601 | E | validated | |
| UMLS | C1866039 | 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:211062Hereditary episodic ataxia
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CACNB4 | Disease-causing germline mutation(s) in | Assessed | HGNC:1404 | ENSG00000182389 | 601949 | 2q23.3 | calcium voltage-gated channel auxiliary subunit beta 4 | 10762541[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | ORPHANET_16100538[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
6 annotations · validated 2018-05-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0001260 | Dysarthria | |
| HP:0000640 | Gaze-evoked nystagmus | |
| HP:0002172 | Postural instability | |
| HP:0002078 | Truncal ataxia | |
| HP:0002321 | Vertigo | |
Annotation source: 10762541[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/211067
- This record as JSON: /data/d/211067.json