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hereditary spastic paraplegia 56

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.
Uniprot Description A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. In SPG56, upper limbs are often also affected. Some SPG56 patients may have a subclinical axonal neuropathy.
Disease Ontology Description A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25.
Mondo Term and Equivalent IDs
MONDO:0014015:  hereditary spastic paraplegia 56
Orphanet:320411: 
UMLS:C3539507: