ORPHA:101112
Spinocerebellar ataxia type 26
Synonyms: SCA26
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 26 | SCA26 |
| fr | Ataxie spinocérébelleuse type 26 | = en |
| de | Ataxie, spinozerebelläre, Typ 26 | = en |
| es | Ataxia espinocerebolosa tipo 26 | = en |
| it | Atassia spinocerebellare tipo 26 | = en |
| nl | Spinocerebellaire ataxie type 26 | = en |
| pt | Ataxia espinocerebelosa tipo 26 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 26 | = en |
| cs | Spinocerebelární ataxie, typ 26 | = en |
| uk | Спіноцеребеллярна атаксія, тип 26 | = en |
| zh | 脊髓小脑共济失调26型 | = en |
| tr | Spinoserebellar ataksi tip 26 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609306 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0012246 | E | validated | |
| MeSH | C537203 | E | validated | |
| UMLS | C1836395 | E | validated | |
| GARD | 9995 | 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:94148Autosomal dominant cerebellar ataxia type III
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 |
|---|---|---|---|---|---|---|---|---|
| EEF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3214 | ENSG00000167658 | 130610 | 19p13.3 | eukaryotic translation elongation factor 2 | 23001565[PMID]_20301317[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 15732118[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15732118[PMID] |
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 2018-02-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001260 | Dysarthria | |
| HP:0001151 | Impaired horizontal smooth pursuit | |
| HP:0002070 | Limb ataxia | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0007240 | Progressive gait ataxia | |
| Frequent (79-30%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0000641 | Dysmetric saccades | |
| HP:0000639 | Nystagmus | |
| HP:0002078 | Truncal ataxia | |
| Occasional (29-5%) | ||
| HP:0003487 | Babinski sign | |
| HP:0007034 | Generalized hyperreflexia | |
| Excluded (0%) | ||
| HP:0002380 | Fasciculations | |
| HP:0003470 | Paralysis | |
| HP:0001250 | Seizure | |
| HP:0003474 | Somatic sensory dysfunction | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 23331413[PMID]_23001565[PMID]_15732118[PMID]_NBK1138[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101112
- This record as JSON: /data/d/101112.json