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MIRAGE
hereditary spastic paraplegia 84
Summary
- Synonym
-
- SPG84
- spastic paraplegia 84 autosomal recessive
- Definition
- A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0112347
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P42356 | Phosphatidylinositol 4-kinase alpha |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100543 | Cognitive impairment |
| HP:0100280 | Crohn's disease |
| HP:0100702 | Arachnoid cyst |
