You are using an outdated browser. Please upgrade your browser to improve your experience.
hereditary spastic paraplegia 46
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.
Uniprot Description A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging.
Disease Ontology Description A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p.
Download Data for hereditary spastic paraplegia 46
data still loading...
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.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110798
OMIM:614409
Orphanet:320391
SCTID:723822009
UMLS:C2828721
UMLS:C4510081
MONDO:0013737
High level summary of knowledge for a disease, including descriptions and datasource references.