Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hereditary spastic paraplegia 56
Summary
- Synonym
-
- SPG56
- autosomal recessive spastic paraplegia 56
- autosomal recessive spastic paraplegia type 56
- Definition
- A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110808
- 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:0002395 | Lower limb hyperreflexia |
| HP:0001332 | Dystonia |
| HP:0003487 | Babinski sign |
| HP:0001258 | Spastic paraplegia |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0001249 | Intellectual disability |
| HP:0002317 | Unsteady gait |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0001263 | Global developmental delay |
