ORPHA:98768
Spinocerebellar ataxia type 13
Synonyms: SCA13
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 13 | SCA13 |
| fr | Ataxie spinocérébelleuse type 13 | = en |
| de | Ataxie, spinozerebelläre, Typ 13 | = en |
| es | Ataxia espinocerebelosa tipo 13 | = en |
| it | Atassia spinocerebellare, tipo 13 | = en |
| nl | Spinocerebellaire ataxie type 13 | = en |
| pt | Ataxia espinocerebelosa tipo 13 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 13 | = en |
| cs | Spinocerebelární ataxie, typ 13 | = en |
| uk | Спіноцеребеллярна атаксія, тип 13 | = en |
| zh | 脊髓小脑共济失调13型 | = en |
| tr | Spinoserebellar ataksi tip 13 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605259 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0011529 | E | validated | |
| MeSH | C537195 | E | validated | |
| UMLS | C1854488 | E | validated | |
| GARD | 9611 | 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:94145Autosomal dominant cerebellar ataxia type I
rare genetic diseases; rare neurological diseases - ORPHA:98746Neurological channelopathy of the central nervous system due to a genetic potassium 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 |
|---|---|---|---|---|---|---|---|---|
| KCNC3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6235 | ENSG00000131398 | 176264 | 19q13.33 | potassium voltage-gated channel subfamily C member 3 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
32 annotations · validated 2018-04-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0009046 | Difficulty running | |
| HP:0001260 | Dysarthria | |
| HP:0002066 | Gait ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0006886 | Impaired distal vibration sensation | |
| HP:0010794 | Impaired visuospatial constructive cognition | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002070 | Limb ataxia | |
| HP:0001270 | Motor delay | |
| HP:0000639 | Nystagmus | |
| HP:0030187 | Titubation | |
| Occasional (29-5%) | ||
| HP:0002312 | Clumsiness | |
| HP:0002015 | Dysphagia | |
| HP:0000365 | Hearing impairment | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0008003 | Jerky ocular pursuit movements | |
| HP:0001336 | Myoclonus | |
| HP:0000648 | Optic atrophy | |
| HP:0000543 | Optic disc pallor | |
| HP:0002172 | Postural instability | |
| HP:0000473 | Torticollis | |
| HP:0000020 | Urinary incontinence | |
| HP:0000012 | Urinary urgency | |
| Very rare (<4-1%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002067 | Bradykinesia | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0025331 | Upgaze palsy | |
Annotation source: 10820125[PMID]_16135769[PMID]_23912307[PMID]_25981959[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98768
- This record as JSON: /data/d/98768.json