ORPHA:276183
Spinocerebellar ataxia type 32
Synonyms: Cerebellar ataxia with azoospermia and intellectual disability · SCA32
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 32 | Cerebellar ataxia with azoospermia and intellectual disability · SCA32 |
| fr | Ataxie spinocérébelleuse type 32 | SCA32 · Ataxie cérébelleuse avec azoospermie et déficience intellectuelle |
| de | Ataxie, spinozerebelläre, Typ 32 | SCA32 · Zerebelläre Ataxie mit Azoospermie und Intelligenzminderung |
| es | Ataxia espinocerebelosa tipo 32 | Ataxia cerebelosa con azoospermia y discapacidad intelectual · SCA32 |
| it | Atassia spinocerebellare tipo 32 | Atassia cerebellare con azoospermia e deficit cognitivo · SCA32 |
| nl | Spinocerebellaire ataxie type 32 | Cerebellaire ataxie met azoöspermie en intellectuele achterstand · SCA32 |
| pt | Ataxia espinocerebelosa tipo 32 | Ataxia cerebelosa com azospermia e perturbação do desenvolvimento intelectual · SCA32 |
| pl | Ataksja rdzeniowo-móżdżkowa typu 32 | Ataksja móżdżkowa z azoospermią i niepełnosprawnością intelektualną · SCA32 |
| cs | Spinocerebelární ataxie, typ 32 | Cerebelární ataxie s azoospermií a mentální retardací · SCA32 |
| uk | Спіноцеребеллярна атаксія, тип 32 | Мозочкова атаксія з азооспермією та інтелектуальною недостатністю · SCA32 |
| zh | 脊髓小脑性共济失调32型 | 小脑共济失调伴无精症和智力障碍 |
| tr | Spinoserebellar ataksi tip 32 | SCA32 · Azospermi ve zihinsel yetersizlik ile seyreden serebellar ataksi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613909 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0013486 | E | validated | |
| UMLS | C3151343 | 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 (2):
- ORPHA:94145Autosomal dominant cerebellar ataxia type I
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
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 |
|---|---|---|---|---|---|---|---|---|
| SCA32 | Disease-causing germline mutation(s) in | Assessed | HGNC:37475 | 7q32-q33 | spinocerebellar ataxia 32 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | Jiang_Zhu_Gomez 2010[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
6 annotations · validated 2018-11-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000027 | Azoospermia | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0100543 | Cognitive impairment | |
| HP:0003251 | Male infertility | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0000029 | Testicular atrophy | |
Annotation source: ISBN:9780124051959[OTHER]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276183
- This record as JSON: /data/d/276183.json