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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 |
|---|---|---|---|
| 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: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 |
