Spinocerebellar ataxia type 32
disease diseaseOn this page
Also known as cerebellar ataxia with azoospermia and intellectual disabilitySCA32spinocerebellar ataxia 32
Summary
Spinocerebellar ataxia type 32 (MONDO:0013486) is a disease and 1 clinical trial. A subtype of autosomal dominant cerebellar ataxia type I — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 6
- Clinical trials: 1
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 1 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
6 HPO clinical features (Orphanet curated; top 6 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000027 | Azoospermia | Frequent (30-79%) |
| HP:0000029 | Testicular atrophy | Frequent (30-79%) |
| HP:0001272 | Cerebellar atrophy | Frequent (30-79%) |
| HP:0002073 | Progressive cerebellar ataxia | Frequent (30-79%) |
| HP:0003251 | Male infertility | Frequent (30-79%) |
| HP:0100543 | Cognitive impairment | Frequent (30-79%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | spinocerebellar ataxia type 32 |
| Mondo ID | MONDO:0013486 |
| OMIM | 613909 |
| Orphanet | 276183 |
| ICD-11 | 1372046516 |
| SNOMED CT | 719254001 |
| UMLS | C3151343 |
| MedGen | 462693 |
| GARD | 0017276 |
| Is cancer (heuristic) | no |
Also known as: cerebellar ataxia with azoospermia and intellectual disability · SCA32 · spinocerebellar ataxia 32
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal dominant disease › autosomal dominant cerebellar ataxia › autosomal dominant cerebellar ataxia type I › spinocerebellar ataxia type 32
Related subtypes (29): Machado-Joseph disease, spinocerebellar ataxia type 29, spinocerebellar ataxia type 34, spinocerebellar ataxia type 1, spinocerebellar ataxia type 2, spinocerebellar ataxia type 4, cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, autosomal dominant cerebellar ataxia, deafness and narcolepsy, spinocerebellar ataxia type 12, spinocerebellar ataxia type 13, spinocerebellar ataxia type 14, spinocerebellar ataxia type 15/16, spinocerebellar ataxia type 17, spinocerebellar ataxia type 19/22, spinocerebellar ataxia type 21, spinocerebellar ataxia type 18, spinocerebellar ataxia type 20, spinocerebellar ataxia type 25, spinocerebellar ataxia type 8, spinocerebellar ataxia type 27, spinocerebellar ataxia type 23, spinocerebellar ataxia type 28, spinocerebellar ataxia type 35, spinocerebellar ataxia type 36, cerebellar dysfunction with variable cognitive and behavioral abnormalities, spinocerebellar ataxia type 37, spinocerebellar ataxia type 40, spinocerebellar ataxia 46, neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 1.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01793168 | Not specified | RECRUITING | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.