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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 51302 | CYP39A1 | cytochrome P450 family 39 subfamily A member 1 | |
| 57704 | GBA2 | glucosylceramidase beta 2 | |
| 84188 | FAR1 | fatty acyl-CoA reductase 1 | |
| 85465 | SELENOI | selenoprotein I | |
| 113612 | CYP2U1 | cytochrome P450 family 2 subfamily U member 1 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002650 | Scoliosis |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0011448 | Ankle clonus |
| HP:0000639 | Nystagmus |
| HP:0006986 | Upper limb spasticity |
| HP:0002070 | Limb ataxia |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0003487 | Babinski sign |
| HP:0002015 | Dysphagia |
| HP:0007340 | Lower limb muscle weakness |
