ORPHA:98769
Spinocerebellar ataxia type 15/16
Synonyms: SCA15/16
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Elderly
- Status
- active
Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 15/16 | SCA15/16 |
| fr | Ataxie spinocérébelleuse type 15/16 | = en |
| de | Ataxie, spinozerebelläre, Typ 15/16 | = en |
| es | Ataxia espinocerebelosa tipo 15/16 | = en |
| it | Atassia spinocerebellare, tipo 15/16 | = en |
| nl | Spinocerebellaire ataxie type 15/16 | = en |
| pt | Ataxia espinocerebelosa tipo 15/16 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 15/16 | = en |
| cs | Spinocerebelární ataxie, typ 15/16 | = en |
| uk | Спіноцеребеллярна атаксія, тип 15/16 | = en |
| zh | 脊髓小脑共济失调15/16型 | = en |
| tr | Spinoserebellar ataksi tipi 15/16 | SCA15 / 16 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606658 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0011694 | E | validated | |
| UMLS | C1847725 | E | validated | |
| GARD | 10477 | 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:94145Autosomal dominant cerebellar ataxia type I
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:98770Spinocerebellar ataxia type 16 moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ITPR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6180 | ENSG00000150995 | 147265 | 3p26.1 | inositol 1,4,5-trisphosphate receptor type 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 80 cases | Worldwide | Case(s) | Validated | Dr Shinsuke FUJIOKA[EXPERT]_Dr Nathaniel WHALEY[EXPERT]_Dr Zbigniew WSZOLEK[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
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
8 annotations · validated 2018-04-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| Frequent (79-30%) | ||
| HP:0002345 | Action tremor | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002066 | Gait ataxia | |
| HP:0002346 | Head tremor | |
| HP:0001347 | Hyperreflexia | |
| HP:0030188 | Tremor by anatomical site | |
| HP:0007351 | Upper limb postural tremor | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 11723290[PMID]_14981189[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98769
- This record as JSON: /data/d/98769.json