ORPHA:209967
Episodic ataxia type 6
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Episodic ataxia type 6 | |
| fr | Ataxie épisodique type 6 | |
| de | Ataxie, episodische, Typ 6 | |
| es | Ataxia episódica tipo 6 | |
| it | Atassia episodica, tipo 6 | |
| nl | Episodische ataxie type 6 | |
| pt | Ataxia episódica tipo 6 | |
| pl | Ataksja epizodyczna typu 6 | |
| cs | Epizodická ataxie, typ 6 | |
| uk | Епізодична атаксія, тип 6 | |
| zh | 发作性共济失调6型 | |
| tr | Epizodik ataksi tip 6 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612656 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.14 | NTBT | index | validated |
| MONDO | 0012982 | E | validated | |
| MeSH | C567207 | E | validated | |
| UMLS | C2675211 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC1A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:10941 | ENSG00000079215 | 600111 | 5p13.2 | solute carrier family 1 member 3 | 19139306[PMID] |
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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 |
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | ORPHANET_19139306[PMID]_16116111[PMID]_23107647[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
14 annotations · validated 2018-04-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0002017 | Nausea and vomiting | |
| HP:0000613 | Photophobia | |
| HP:0002321 | Vertigo | |
| Frequent (79-30%) | ||
| HP:0002183 | Phonophobia | |
| Occasional (29-5%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0000651 | Diplopia | |
| HP:0000640 | Gaze-evoked nystagmus | |
| HP:0002315 | Headache | |
| HP:0002301 | Hemiplegia | |
| HP:0002076 | Migraine | |
| HP:0007663 | Reduced visual acuity | |
| HP:0001250 | Seizure | |
| HP:0001350 | Slurred speech | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 19139306[PMID]_16116111[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/209967
- This record as JSON: /data/d/209967.json