ORPHA:101108
Spinocerebellar ataxia type 23
Synonyms: SCA23
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 23 | SCA23 |
| fr | Ataxie spinocérébelleuse type 23 | = en |
| de | Ataxie, spinozerebelläre, Typ 23 | = en |
| es | Ataxia espinocerebelosa tipo 23 | = en |
| it | Atassia spinocerebellare, tipo 23 | = en |
| nl | Spinocerebellaire ataxie type 23 | = en |
| pt | Ataxia espinocerebelosa tipo 23 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 23 | = en |
| cs | Spinocerebelární ataxie, typ 23 | = en |
| uk | Спіноцеребеллярна атаксія, тип 23 | = en |
| zh | 脊髓小脑共济失调23型 | = en |
| tr | Spinoserebellar ataksi tip 23 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610245 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0012449 | E | validated | |
| MeSH | C537201 | E | validated | |
| UMLS | C1853250 | E | validated | |
| GARD | 9950 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PDYN | Disease-causing germline mutation(s) in | Assessed | HGNC:8820 | ENSG00000101327 | 131340 | 20p13 | prodynorphin |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 families | Worldwide | Family(ies) | 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.
6
HPO phenotypes
10 annotations · validated 2018-03-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002066 | Gait ataxia | |
| HP:0001347 | Hyperreflexia | |
| HP:0002070 | Limb ataxia | |
| HP:0002073 | Progressive cerebellar ataxia | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0006886 | Impaired distal vibration sensation | |
| HP:0010831 | Impaired proprioception | |
| HP:0000514 | Slow saccadic eye movements | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 15306549[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101108
- This record as JSON: /data/d/101108.json