ORPHA:101111
Spinocerebellar ataxia type 25
Synonyms: SCA25
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 25 | SCA25 |
| fr | Ataxie spinocérébelleuse type 25 | = en |
| de | Ataxie, spinozerebelläre, Typ 25 | = en |
| es | Ataxia espinocerebolosa tipo 25 | = en |
| it | Atassia spinocerebellare, tipo 25 | = en |
| nl | Spinocerebellaire ataxie type 25 | = en |
| pt | Ataxia espinocerebelosa tipo 25 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 25 | = en |
| cs | Spinocerebelární ataxie, typ 25 | = en |
| uk | Спіноцеребеллярна атаксія, тип 25 | = en |
| zh | 脊髓小脑共济失调25型 | = en |
| tr | Spinoserebellar ataksi tip 25 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608703 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0012103 | E | validated | |
| MeSH | C537202 | E | validated | |
| UMLS | C1837518 | E | validated | |
| GARD | 9996 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PNPT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:23166 | ENSG00000138035 | 610316 | 2p16.1 | polyribonucleotide nucleotidyltransferase 1 | 35411967[PMID] |
| SCA25 | Disease-causing germline mutation(s) in | Assessed | HGNC:20684 | 2p21-p15 | spinocerebellar ataxia 25 |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | 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
23 annotations · validated 2018-05-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002073 | Progressive cerebellar ataxia | |
| Frequent (79-30%) | ||
| HP:0031422 | Abnormal morphology of the cerebellar cortex | |
| HP:0002522 | Areflexia of lower limbs | |
| HP:0003487 | Babinski sign | |
| HP:0003387 | Decreased number of large peripheral myelinated nerve fibers | |
| HP:0100275 | Diffuse cerebellar atrophy | |
| HP:0002936 | Distal sensory impairment | |
| HP:0003445 | EMG: neuropathic changes | |
| HP:0011468 | Facial tics | |
| HP:0002066 | Gait ataxia | |
| HP:0006937 | Impaired distal tactile sensation | |
| HP:0007328 | Impaired pain sensation | |
| HP:0000639 | Nystagmus | |
| HP:0001761 | Pes cavus | |
| HP:0007663 | Reduced visual acuity | |
| HP:0002650 | Scoliosis | |
| HP:0000763 | Sensory neuropathy | |
| HP:0002464 | Spastic dysarthria | |
| HP:0000486 | Strabismus | |
| HP:0000012 | Urinary urgency | |
| Occasional (29-5%) | ||
| HP:0002574 | Episodic abdominal pain | |
| HP:0000317 | Facial myokymia | |
| HP:0002013 | Vomiting | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 14705117[PMID]_21619691[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101111
- This record as JSON: /data/d/101111.json