ORPHA:98758
Spinocerebellar ataxia type 6
Synonyms: SCA6
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Elderly
- Status
- active
An autosomal dominant cerebellar ataxia type III that is characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 6 | SCA6 |
| fr | Ataxie spinocérébelleuse type 6 | = en |
| de | Ataxie, spinozerebelläre, Typ 6 | = en |
| es | Ataxia espinocerebelosa tipo 6 | = en |
| it | Atassia spinocerebellare tipo 6 | = en |
| nl | Spinocerebellaire ataxie type 6 | = en |
| pt | Ataxia espinocerebelosa, tipo 6 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 6 | = en |
| cs | Spinocerebelární ataxie, typ 6 | = en |
| uk | Спіноцеребеллярна атаксія, тип 6 | = en |
| zh | 脊髓小脑共济失调6型 | = en |
| tr | Spinoserebellar ataksi tip 6 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 183086 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0008457 | E | validated | |
| UMLS | C0752124 | E | validated | |
| GARD | 10351 | 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:94148Autosomal dominant cerebellar ataxia type III
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) in | Assessed | HGNC:1388 | ENSG00000141837 | 601011 | 19p13.13 | calcium voltage-gated channel subunit alpha1 A | 20301317[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only | Validated | 23331413[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.7 / 100 000 | Japan | Value and class | Validated | 19169038[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
19 annotations · validated 2018-02-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030511 | Bradyopsia | |
| HP:0002066 | Gait ataxia | |
| HP:0007979 | Gaze-evoked horizontal nystagmus | |
| HP:0002311 | Incoordination | |
| HP:0002080 | Intention tremor | |
| HP:0000639 | Nystagmus | |
| HP:0002172 | Postural instability | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0002317 | Unsteady gait | |
| Frequent (79-30%) | ||
| HP:0000504 | Abnormality of vision | |
| HP:0003487 | Babinski sign | |
| HP:0030842 | Choking episodes | |
| HP:0000651 | Diplopia | |
| HP:0002015 | Dysphagia | |
| HP:0001347 | Hyperreflexia | |
| HP:0010544 | Vertical nystagmus | |
| Occasional (29-5%) | ||
| HP:0000643 | Blepharospasm | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 20301319[PMID]_12700909[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98758
- This record as JSON: /data/d/98758.json