ORPHA:98765
Spinocerebellar ataxia type 4
Synonyms: SCA4
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 4 | SCA4 |
| fr | Ataxie spinocérébelleuse type 4 | = en |
| de | Ataxie, spinozerebelläre, Typ 4 | = en |
| es | Ataxia espinocerebelosa tipo 4 | = en |
| it | Atassia spinocerebellare, tipo 4 | = en |
| nl | Spinocerebellaire ataxie type 4 | = en |
| pt | Ataxia espinocerebelosa tipo 4 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 4 | = en |
| cs | Spinocerebelární ataxie, typ 4 | = en |
| uk | Спіноцеребеллярна атаксія, тип 4 | = en |
| zh | 脊髓小脑共济失调4型 | = en |
| tr | Spinoserebellar ataksi tip 4 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600223 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0010847 | E | validated | |
| UMLS | C0752122 | E | validated | |
| GARD | 9970 | 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 |
|---|---|---|---|---|---|---|---|---|
| PLEKHG4 | Candidate gene tested in | Not yet assessed | HGNC:24501 | ENSG00000196155 | 609526 | 16q22.1 | pleckstrin homology and RhoGEF domain containing G4 | 21267591[PMID]_18293026[PMID]_20301317[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
12 annotations · validated 2018-04-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003438 | Absent Achilles reflex | |
| HP:0010831 | Impaired proprioception | |
| HP:0010830 | Impaired tactile sensation | |
| HP:0002495 | Impaired vibratory sensation | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0001260 | Dysarthria | |
| HP:0001288 | Gait disturbance | |
| HP:0002333 | Motor deterioration | |
| Occasional (29-5%) | ||
| HP:0001284 | Areflexia | |
| HP:0007002 | Motor axonal neuropathy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0003390 | Sensory axonal neuropathy | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 8755926[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98765
- This record as JSON: /data/d/98765.json