ORPHA:208513
Spinocerebellar ataxia type 29
Synonyms: Congenital nonprogressive spinocerebellar ataxia · SCA29
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 29 | Congenital nonprogressive spinocerebellar ataxia · SCA29 |
| fr | Ataxie spinocérébelleuse type 29 | Ataxie spinocérébelleuse non progressive congénitale · SCA29 |
| de | Ataxie, spinozerebelläre, Typ 29 | Ataxie, kongenitale nonprogressive spinozerebelläre · SCA29 |
| es | Ataxia espinocerebelosa tipo 29 | Ataxia espinocerebelosa no progresiva congénita · SCA29 |
| it | Atassia spinocerebellare tipo 29 | Atassia spinocerebellare non progressiva congenita · SCA29 |
| nl | Spinocerebellaire ataxie type 29 | Congenitale niet-progressieve spinocerebellaire ataxie · SCA29 |
| pt | Ataxia espinocerebelosa tipo 29 | Ataxia espinocerebelosa congénita não progressiva · SCA29 |
| pl | Ataksja rdzeniowo-móżdżkowa typu 29 | SCA29 · Wrodzona niepostępująca ataksja rdzeniowo-móżdżkowa |
| cs | Spinocerebelární ataxie, typ 29 | Vrozená neprogresivní spinocerebelární ataxie · SCA29 |
| uk | Спіноцеребеллярна атаксія, тип 29 | Вроджена непрогресуюча спіноцеребеллярна атаксія · SCA29 |
| zh | 脊髓小脑共济失调29型 | 先天性非进行性脊髓小脑性共济失调 |
| tr | Spinoserebellar ataksi tip 29 | SCA29 · Doğumsal ilerleyici olmayan spinoserebellar ataksi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 117360 | E | validated | |
| ICD-10 | G11.0 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0007298 | E | validated | |
| MeSH | C537206 | E | validated | |
| UMLS | C1861732 | E | validated | |
| GARD | 10480 | 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 |
|---|---|---|---|---|---|---|---|---|
| ITPR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6180 | ENSG00000150995 | 147265 | 3p26.1 | inositol 1,4,5-trisphosphate receptor type 1 | 22986007[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | ORPHANET_[EXPERT] | |
| Point prevalence | Unknown | — | 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
20 annotations · validated 2018-03-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010862 | Delayed fine motor development | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0002066 | Gait ataxia | |
| HP:0002080 | Intention tremor | |
| Frequent (79-30%) | ||
| HP:0000570 | Abnormal saccadic eye movements | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0100543 | Cognitive impairment | |
| HP:0012434 | Delayed social development | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001270 | Motor delay | |
| HP:0000639 | Nystagmus | |
| HP:0000657 | Oculomotor apraxia | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0001263 | Global developmental delay | |
| HP:0025405 | Visual fixation instability | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 28659154[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/208513
- This record as JSON: /data/d/208513.json