ORPHA:211017
Spinocerebellar ataxia type 30
Synonyms: SCA30
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Elderly
- Status
- active
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 30 | SCA30 |
| fr | Ataxie spinocérébelleuse type 30 | = en |
| de | Ataxie, spinozerebelläre, Typ 30 | = en |
| es | Ataxia espinocerebolosa tipo 30 | = en |
| it | Atassia spinocerebellare tipo 30 | = en |
| nl | Spinocerebellaire ataxie type 30 | = en |
| pt | Ataxia espinocerebelosa tipo 30 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 30 | = en |
| cs | Spinocerebelární ataxie, typ 30 | = en |
| uk | Спіноцеребеллярна атаксія, тип 30 | = en |
| zh | 脊髓小脑共济失调30型 | = en |
| tr | Spinoserebellar ataksi tip 30 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613371 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0013241 | E | validated | |
| MeSH | C575214 | E | validated | |
| UMLS | C2936793 | E | validated | |
| GARD | 4950 | 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 |
|---|---|---|---|---|---|---|---|---|
| SCA30 | Disease-causing germline mutation(s) in | Assessed | HGNC:33445 | 4q34.3-q35.1 | spinocerebellar ataxia 30 | 18996908[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 18996908[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18996908[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
6 annotations · validated 2018-04-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001260 | Dysarthria | |
| HP:0002066 | Gait ataxia | |
| HP:0002070 | Limb ataxia | |
| Occasional (29-5%) | ||
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0000640 | Gaze-evoked nystagmus | |
| HP:0002395 | Lower limb hyperreflexia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 18996908[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/211017
- This record as JSON: /data/d/211017.json