ORPHA:276193
Spinocerebellar ataxia type 35
Synonyms: SCA35
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
An autosomal dominant cerebellar ataxia type 1 that is characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor of hands, hyperreflexia and spasmodic torticollis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 35 | SCA35 |
| fr | Ataxie spinocérébelleuse type 35 | = en |
| de | Ataxie, spinozerebelläre, Typ 35 | = en |
| es | Ataxia espinocerebelosa tipo 35 | |
| it | Atassia spinocerebellare tipo 35 | = en |
| nl | Spinocerebellaire ataxie type 35 | = en |
| pt | Ataxia espinocerebelosa tipo 35 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 35 | = en |
| cs | Spinocerebelární ataxie, typ 35 | = en |
| uk | Спіноцеребеллярна атаксія, тип 35 | = en |
| zh | 脊髓小脑性共济失调35型 | = en |
| tr | Spinoserebellar ataksi tip 35 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613908 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0013485 | E | validated | |
| UMLS | C3888031 | 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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TGM6 | Disease-causing germline mutation(s) in | Assessed | HGNC:16255 | ENSG00000166948 | 613900 | 20p13 | transglutaminase 6 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 28 cases | Worldwide | Case(s) | Validated | 30229425[PMID] | |
| 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
18 annotations · validated 2018-02-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002073 | Progressive cerebellar ataxia | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0002066 | Gait ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0001347 | Hyperreflexia | |
| HP:0002080 | Intention tremor | |
| HP:0002070 | Limb ataxia | |
| Occasional (29-5%) | ||
| HP:0000641 | Dysmetric saccades | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000467 | Neck muscle weakness | |
| HP:0007024 | Pseudobulbar paralysis | |
| HP:0000473 | Torticollis | |
| Excluded (0%) | ||
| HP:0000639 | Nystagmus | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0009830 | Peripheral neuropathy | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 21106500[PMiD]_25253745[PMID]_NBK1138[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276193
- This record as JSON: /data/d/276193.json