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hereditary sensory and autonomic neuropathy with spastic paraplegia

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.
Uniprot Description A disease characterized by spastic paraplegia and progressive distal sensory neuropathy leading to mutilating ulcerations of the upper and lower limbs.
Mondo Term and Equivalent IDs
MONDO:0009748:  hereditary sensory and autonomic neuropathy with spastic paraplegia
MESH:C564948: 
OMIM:256840: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE
Orphanet:139578: 
SCTID:717827000: 
UMLS:C1850395: 
UMLS:C4303565: