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hereditary spastic paraplegia 64

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.
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. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
Disease Ontology Description A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24.
Mondo Term and Equivalent IDs
MONDO:0014303:  hereditary spastic paraplegia 64
Orphanet:401810: 
SCTID:726609005: 
UMLS:C3810289: 
UMLS:C4511960: