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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:0001260 | Dysarthria |
| HP:0002495 | Impaired vibratory sensation |
| HP:0000079 | Abnormality of the urinary system |
| HP:0003484 | Upper limb muscle weakness |
| HP:0001761 | Pes cavus |
| HP:0007210 | Lower limb amyotrophy |
| HP:0001258 | Spastic paraplegia |
| HP:0002078 | Truncal ataxia |
| HP:0009129 | Upper limb amyotrophy |
| HP:0001271 | Polyneuropathy |
