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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:0007371 | Corpus callosum atrophy |
| HP:0001761 | Pes cavus |
| HP:0012864 | Abnormal sperm morphology |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0000789 | Infertility |
| HP:0003487 | Babinski sign |
| HP:0000020 | Urinary incontinence |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0000518 | Cataract |
| HP:0008003 | Jerky ocular pursuit movements |
