ORPHA:98763
Spinocerebellar ataxia type 14
Synonyms: SCA14
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 14 | SCA14 |
| fr | Ataxie spinocérébelleuse type 14 | = en |
| de | Ataxie, spinozerebelläre, Typ 14 | = en |
| es | Ataxia espinocerebelosa tipo 14 | = en |
| it | Atassia spinocerebellare, tipo 14 | = en |
| nl | Spinocerebellaire ataxie type 14 | = en |
| pt | Ataxia espinocerebelosa tipo 14 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 14 | = en |
| cs | Spinocerebelární ataxie, typ 14 | = en |
| uk | Спіноцеребеллярна атаксія, тип 14 | = en |
| zh | 脊髓小脑共济失调14型 | = en |
| tr | Spinoserebellar ataksi tip 14 | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605361 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0011540 | E | validated | |
| MeSH | C537196 | E | validated | |
| UMLS | C1854369 | E | validated | |
| GARD | 9867 | 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:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
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 |
|---|---|---|---|---|---|---|---|---|
| PRKCG | Disease-causing germline mutation(s) in | Assessed | HGNC:9402 | ENSG00000126583 | 176980 | 19q13.42 | protein kinase C gamma |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 families | Worldwide | Family(ies) | Validated | 20301573[PMID]_[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
15 annotations · validated 2018-04-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002066 | Gait ataxia | |
| Frequent (79-30%) | ||
| HP:0005109 | Abnormality of the Achilles tendon | |
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002070 | Limb ataxia | |
| HP:0002073 | Progressive cerebellar ataxia | |
| Occasional (29-5%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0001260 | Dysarthria | |
| HP:0000640 | Gaze-evoked nystagmus | |
| HP:0002600 | Hyporeflexia of lower limbs | |
| HP:0001336 | Myoclonus | |
| HP:0002063 | Rigidity | |
| HP:0001152 | Saccadic smooth pursuit | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0001337 | Tremor | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 10939565[PMID]_20301573[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98763
- This record as JSON: /data/d/98763.json