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MIRAGE
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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00400 | Acetyl-coenzyme A transporter 1 |
- 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 |
