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autosomal recessive spinocerebellar ataxia 16
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene.
Uniprot Description Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR16 is characterized by truncal and limb ataxia resulting in gait instability. Additionally, patients may show dysarthria, nystagmus, spasticity of the lower limbs, and mild peripheral sensory neuropathy.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080029
OMIM:615768
Orphanet:412057
UMLS:C4014261
MONDO:0014339
High level summary of knowledge for a disease, including descriptions and datasource references.