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hereditary spastic paraplegia 73
Summary
- Synonym
-
- SPG73
- autosomal dominant spastic paraplegia 73
- autosomal dominant spastic paraplegia type 73
- Definition
- A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13.
- Super Class
- autosomal dominant disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110818
- 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 | |
| 126129 | CPT1C | carnitine palmitoyltransferase 1C |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002064 | Spastic gait |
| HP:0007199 | Progressive spastic paraparesis |
| HP:0001250 | Seizure |
| HP:0002921 | Abnormal cerebrospinal fluid morphology |
| HP:0000020 | Urinary incontinence |
| HP:0003487 | Babinski sign |
| HP:0001761 | Pes cavus |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0002314 | Degeneration of the lateral corticospinal tracts |
| HP:0000012 | Urinary urgency |
