ORPHA:589527
Spinocerebellar ataxia type 45
Synonyms: SCA45
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 45 | SCA45 |
| fr | Ataxie spinocérébelleuse type 45 | = en |
| de | Ataxie, spinozerebelläre, Typ 45 | = en |
| es | Ataxia espinocerebelosa tipo 45 | = en |
| it | Atassia spinocerebellare tipo 45 | = en |
| nl | Spinocerebellaire ataxie type 45 | = en |
| pt | Ataxia espinocerebelosa tipo 45 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typ 45 | SCA typ 45 |
| cs | Spinocerebelární ataxie typu 45 | = en |
| uk | Спіноцеребеллярна атаксія, тип 45 | = en |
| zh | Spinocerebellar ataxia type 45 | = en |
| tr | Spinocerebellar ataxia type 45 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617769 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | attributed | validated |
| MONDO | 0033480 | E | validated | |
| UMLS | C4540400 | 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:94148Autosomal dominant cerebellar ataxia type III
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 |
|---|---|---|---|---|---|---|---|---|
| FAT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3596 | ENSG00000086570 | 604269 | 5q33.1 | FAT atypical cadherin 2 | 29053796[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 29053796[PMID]_29847346[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29053796[PMID]_29847346[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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/589527
- This record as JSON: /data/d/589527.json