ORPHA:209970
Episodic ataxia type 7
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Episodic ataxia type 7 | |
| fr | Ataxie épisodique type 7 | |
| de | Ataxie, episodische, Typ 7 | |
| es | Ataxia episódica tipo 7 | |
| it | Atassia episodica, tipo 7 | |
| nl | Episodische ataxie type 7 | |
| pt | Ataxia episódica tipo 7 | |
| pl | Ataksja epizodyczna typu 7 | |
| cs | Epizodická ataxie, typ 7 | |
| uk | Епізодична атаксія, тип 7 | |
| zh | 发作性共济失调7型 | |
| tr | Epizodik ataksi tip 7 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611907 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.14 | NTBT | index | validated |
| MONDO | 0012755 | E | validated | |
| MeSH | C567459 | E | validated | |
| UMLS | C2677843 | 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
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | ORPHANET_17502476[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
11 annotations · validated 2018-05-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001260 | Dysarthria | |
| HP:0002131 | Episodic ataxia | |
| HP:0001324 | Muscle weakness | |
| HP:0002321 | Vertigo | |
| Frequent (79-30%) | ||
| HP:0000639 | Nystagmus | |
| Occasional (29-5%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0000651 | Diplopia | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0002076 | Migraine | |
| HP:0002411 | Myokymia | |
| HP:0000360 | Tinnitus | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 17502476[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/209970
- This record as JSON: /data/d/209970.json