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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.
Mondo Term and Equivalent IDs
MONDO:0013737:  hereditary spastic paraplegia 46
Orphanet:320391: 
SCTID:723822009: 
UMLS:C2828721: 
UMLS:C4510081: