ORPHA:97
Familial paroxysmal ataxia
Synonyms: Episodic ataxia type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial paroxysmal ataxia | Episodic ataxia type 2 |
| fr | Ataxie paroxystique familiale | Ataxie épisodique type 2 |
| de | Ataxie, paroxysmale, familiäre | Ataxie, episodische, Typ 2 |
| es | Ataxia paroxística familiar | Ataxia episódica tipo 2 |
| it | Atassia parossistica familiare | Atassia episodica, tipo 2 |
| nl | Familiale paroxysmale ataxie | Episodische ataxie type 2 |
| pt | Ataxia paroxística familiar | Ataxia episódica tipo 2 |
| pl | Rodzinna ataksja napadowa | Ataksja okresowa typu 2 |
| cs | Familiární paroxysmální ataxie | Epizodická ataxie, typ 2 |
| uk | Сімейна пароксизмальна атаксія | Епізодична атаксія типу 2 |
| zh | 家族性发作性共济失调 | 发作性共济失调2型 |
| tr | Ailesel paroksismal ataksi | Epizodik ataksi tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 108500 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.14 | NTBT | index | validated |
| MONDO | 0007163 | E | validated | |
| UMLS | C1720416 | E | validated | |
| GARD | 9602 | 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 (2):
- ORPHA:211062Hereditary episodic ataxia
rare genetic diseases; rare neurological diseases - ORPHA:98745Neurological channelopathy of the central nervous system due to a genetic calcium channel defect
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CACNA1A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1388 | ENSG00000141837 | 601011 | 19p13.13 | calcium voltage-gated channel subunit alpha1 A | 20301674[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | United States | Class only | Not yet validated | 20301674[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
14 annotations · validated 2018-02-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0000639 | Nystagmus | |
| HP:0002321 | Vertigo | |
| Frequent (79-30%) | ||
| HP:0000651 | Diplopia | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0002301 | Hemiplegia | |
| HP:0002076 | Migraine | |
| HP:0002017 | Nausea and vomiting | |
| HP:0000360 | Tinnitus | |
| Occasional (29-5%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0001249 | Intellectual disability | |
| HP:0000473 | Torticollis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20301674[PMID]_20129625[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97
- This record as JSON: /data/d/97.json