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hereditary spastic paraplegia 5A
Summary
- Synonym
-
- SPG5A
- autosomal recessive spastic paraplegia 5A
- autosomal recessive spastic paraplegia type 5A
- Definition
- A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110810
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002174 | Postural tremor |
| HP:0002406 | Limb dysmetria |
| HP:0003107 | Abnormal circulating cholesterol concentration |
| HP:0003596 | Middle age onset |
| HP:0003621 | Juvenile onset |
| HP:0003676 | Progressive |
| HP:0006858 | Impaired distal proprioception |
| HP:0011462 | Young adult onset |
| HP:0011463 | Childhood onset |
| HP:0100543 | Cognitive impairment |
