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hereditary spastic paraplegia 42
Summary
- Synonym
-
- SPG42
- autosomal dominant spastic paraplegia 42
- autosomal dominant spastic paraplegia type 42
- Definition
- A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31.
- Super Class
- autosomal dominant disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110794
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 2583 | B4GALNT1 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | |
| 3897 | L1CAM | L1 cell adhesion molecule | |
| 4099 | MAG | myelin associated glycoprotein | |
| 5833 | PCYT2 | phosphate cytidylyltransferase 2, ethanolamine | |
| 8398 | PLA2G6 | phospholipase A2 group VI | |
| 8869 | ST3GAL5 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | |
| 9197 | SLC33A1 | solute carrier family 33 member 1 | |
| 9420 | CYP7B1 | cytochrome P450 family 7 subfamily B member 1 | |
| 10908 | PNPLA6 | patatin like phospholipase domain containing 6 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002314 | Degeneration of the lateral corticospinal tracts |
| HP:0012898 | Abnormal lower-limb motor evoked potentials |
| HP:0002061 | Lower limb spasticity |
| HP:0006895 | Lower limb hypertonia |
| HP:0001347 | Hyperreflexia |
| HP:0003457 | EMG abnormality |
| HP:0007210 | Lower limb amyotrophy |
| HP:0002166 | Impaired vibration sensation in the lower limbs |
| HP:0001250 | Seizure |
| HP:0003487 | Babinski sign |
