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hereditary spastic paraplegia 46
Summary
- Synonym
-
- SPG46
- autosomal recessive spastic paraplegia 46
- autosomal recessive spastic paraplegia type 46
- Definition
- A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110798
- Mondo Disease Ontology
- ORDO
- OMIM
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:0003477 | Peripheral axonal neuropathy |
| HP:0012207 | Reduced sperm motility |
| HP:0002078 | Truncal ataxia |
| HP:0007340 | Lower limb muscle weakness |
| HP:0001249 | Intellectual disability |
| HP:0002495 | Impaired vibratory sensation |
| HP:0003621 | Juvenile onset |
| HP:0011463 | Childhood onset |
| HP:0002310 | Orofacial dyskinesia |
| HP:0002378 | Hand tremor |
