ORPHA:276198
Spinocerebellar ataxia type 36
Synonyms: Asidan · SCA36
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
An autosomal dominant cerebellar ataxia type 1 that characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 36 | Asidan · SCA36 |
| fr | Ataxie spinocérébelleuse type 36 | = en |
| de | Ataxie, spinozerebelläre, Typ 36 | SCA36 |
| es | Ataxia espinocerebelosa tipo 36 | = en |
| it | Atassia spinocerebellare tipo 36 | = en |
| nl | Spinocerebellaire ataxie type 36 | = en |
| pt | Ataxia espinocerebelosa tipo 36 | SCA36 |
| pl | Ataksja rdzeniowo-móżdżkowa typu 36 | SCA36 |
| cs | Spinocerebelární ataxie, typ 36 | = en |
| uk | Спіноцеребеллярна атаксія, тип 36 | Асідан · SCA36 |
| zh | 脊髓小脑性共济失调36型 | Asidan |
| tr | Spinoserebellar ataksi tip 36 | SCA36 · Asidan |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614153 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0013594 | E | validated | |
| UMLS | C3472711 | 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 |
|---|---|---|---|---|---|---|---|---|
| NOP56 | Disease-causing germline mutation(s) in | Assessed | HGNC:15911 | ENSG00000101361 | 614154 | 20p13 | NOP56 ribonucleoprotein |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 families | Worldwide | Family(ies) | Validated | 25101480[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_25101480[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.
6
HPO phenotypes
27 annotations · validated 2018-03-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0001260 | Dysarthria | |
| HP:0000365 | Hearing impairment | |
| HP:0002070 | Limb ataxia | |
| HP:0002078 | Truncal ataxia | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0000622 | Blurred vision | |
| HP:0001310 | Dysmetria | |
| HP:0002380 | Fasciculations | |
| HP:0001288 | Gait disturbance | |
| HP:0007001 | Loss of Purkinje cells in the cerebellar vermis | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0000514 | Slow saccadic eye movements | |
| HP:0012473 | Tongue atrophy | |
| HP:0001308 | Tongue fasciculations | |
| Occasional (29-5%) | ||
| HP:0001347 | Hyperreflexia | |
| HP:0000508 | Ptosis | |
| Very rare (<4-1%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0002607 | Bowel incontinence | |
| HP:0000651 | Diplopia | |
| HP:0002015 | Dysphagia | |
| HP:0002378 | Hand tremor | |
| HP:0002346 | Head tremor | |
| HP:0002080 | Intention tremor | |
| HP:0045084 | Limb myoclonus | |
| HP:0002076 | Migraine | |
| HP:0002321 | Vertigo | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 22492559[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276198
- This record as JSON: /data/d/276198.json