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hereditary spastic paraplegia 33
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 ZFYVE27 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. 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.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110784
MESH:C565214
OMIM:610244
UMLS:C1853251
MONDO:0012448
High level summary of knowledge for a disease, including descriptions and datasource references.