You are using an outdated browser. Please upgrade your browser to improve your experience.

hereditary spastic paraplegia 51

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.
Uniprot Description A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG51 is a non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication.
Disease Ontology Description A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21.
Mondo Term and Equivalent IDs
MONDO:0013401:  hereditary spastic paraplegia 51
GARD:0010999: 
UMLS:C3151056: