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autosomal recessive complex spastic paraplegia type 9B
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 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. SPG9B is a complex form characterized by delayed psychomotor development, intellectual disability, and severe motor impairment. Dysmorphic facial features, tremor, and urinary incontinence are variably observed in SPG9B patients.
Disease Ontology Description A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
Mondo Term and Equivalent IDs
MONDO:0014702: autosomal recessive complex spastic paraplegia type 9B
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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.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110825
OMIM:616586
Orphanet:447760
UMLS:C4225272
MONDO:0014702
High level summary of knowledge for a disease, including descriptions and datasource references.