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spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
Disease Summary
Associated Targets (4)
Tchem
2
Tbio
2
Uniprot Description Spinocerebellar ataxia is 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. SCAN1 is an autosomal recessive cerebellar ataxia (ARCA) associated with peripheral axonal motor and sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait as seen in Charcot-Marie-Tooth neuropathy. All affected individuals have normal intelligence.
Mondo Term and Equivalent IDs
MONDO:0020771: spinocerebellar ataxia, autosomal recessive, with axonal 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 UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIMPS:607250
MONDO:0020771
High level summary of knowledge for a disease, including descriptions and datasource references.