ORPHA:98771
Spinocerebellar ataxia type 18
Synonyms: SCA18
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 18 | SCA18 |
| fr | Ataxie spinocérébelleuse type 18 | = en |
| de | Ataxie, spinozerebelläre, Typ 18 | = en |
| es | Ataxia espinocerebelosa tipo 18 | = en |
| it | Atassia spinocerebellare, tipo 18 | = en |
| nl | Spinocerebellaire ataxie type 18 | = en |
| pt | Ataxia espinocerebelosa tipo 18 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 18 | = en |
| cs | Spinocerebelární ataxie, typ 18 | = en |
| uk | Спіноцеребеллярна атаксія, тип 18 | = en |
| zh | 脊髓小脑共济失调18型 | = en |
| tr | Spinoserebellar ataksi tip 18 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607458 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0011834 | E | validated | |
| MeSH | C537197 | E | validated | |
| UMLS | C1843884 | E | validated | |
| GARD | 9976 | 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 |
|---|---|---|---|---|---|---|---|---|
| IFRD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5456 | ENSG00000006652 | 603502 | 7q31.1 | interferon related developmental regulator 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 26 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.
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HPO phenotypes
18 annotations · validated 2018-04-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001284 | Areflexia | |
| HP:0002066 | Gait ataxia | |
| HP:0001324 | Muscle weakness | |
| HP:0003474 | Somatic sensory dysfunction | |
| Frequent (79-30%) | ||
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0000365 | Hearing impairment | |
| HP:0002600 | Hyporeflexia of lower limbs | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0010546 | Muscle fibrillation | |
| HP:0001761 | Pes cavus | |
| HP:0007141 | Sensorimotor neuropathy | |
| Occasional (29-5%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0002346 | Head tremor | |
| HP:0000639 | Nystagmus | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0030187 | Titubation | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 11992570[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98771
- This record as JSON: /data/d/98771.json