ORPHA:79135
Episodic ataxia type 3
Synonyms: Episodic ataxia-vertigo-tinnitus-myokymia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Episodic ataxia type 3 | Episodic ataxia-vertigo-tinnitus-myokymia syndrome |
| fr | Ataxie épisodique type 3 | Syndrome d'ataxie épisodique-vertige-acouphène-myokymie |
| de | Ataxie, episodische, Typ 3 | Ataxie, episodische - Vertigo - Tinnitus - Myokymie |
| es | Ataxia episódica tipo 3 | Ataxia episódica-vértigo-tinnitus-mioquimia |
| it | Atassia episodica, tipo 3 | Atassia episodica - vertigini - tinnito - miochimia |
| nl | Episodische ataxie type 3 | Episodische ataxie - vertigo - tinnitus - myokymie-syndroom |
| pt | Ataxia episódica tipo 3 | Síndrome de ataxia episódica-vertigens-tinnitus-mioquimia |
| pl | Epizodyczna ataksja typu 3 | Ataksja epizodyczna - zawroty głowy - szumy uzne - miokimia |
| cs | Epizodická ataxie, typ 3 | Syndrom zahrnující epizodickou ataxii, vertigo, tinnitus a myokymii |
| uk | Епізодична атаксія, тип 3 | Синдром епізодичної атаксії-вертиго-шуму у вухах-міокімії |
| zh | 发作性共济失调3型 | 发作性共济失调-眩晕-耳鸣-肌纤维颤搐综合征 |
| tr | Epizodik ataksi tip 3 | Epizodik ataksi-vertigo-tinnitus-miyokimi sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606554 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.14 | NTBT | index | validated |
| MONDO | 0011682 | E | validated | |
| MeSH | C564697 | E | validated | |
| UMLS | C1847839 | 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11673600[PMID] |
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 11673600[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
7 annotations · validated 2018-12-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002131 | Episodic ataxia | |
| HP:0002321 | Vertigo | |
| Frequent (79-30%) | ||
| HP:0002411 | Myokymia | |
| HP:0000360 | Tinnitus | |
| Occasional (29-5%) | ||
| HP:0002301 | Hemiplegia | |
| HP:0000639 | Nystagmus | |
| HP:0001250 | Seizure | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 19645908[PMID]_16009908[PMID]_11960817[PMID]_11673600[PMID]_20301317[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79135
- This record as JSON: /data/d/79135.json