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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:0002061 | Lower limb spasticity |
| HP:0002070 | Limb ataxia |
| HP:0002078 | Truncal ataxia |
| HP:0002495 | Impaired vibratory sensation |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002650 | Scoliosis |
| HP:0003484 | Upper limb muscle weakness |
| HP:0003487 | Babinski sign |
| HP:0006827 | Atrophy of the spinal cord |
| HP:0006986 | Upper limb spasticity |
