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MIRAGE
hereditary spastic paraplegia 26
Summary
- Synonym
-
- GM2 synthase deficiency
- SPG26
- autosomal recessive spastic paraplegia 26
- autosomal recessive spastic paraplegia type 26
- Definition
- A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110777
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q00973 | Beta-1,4 N-acetylgalactosaminyltransferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002061 | Lower limb spasticity |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002650 | Scoliosis |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003487 | Babinski sign |
| HP:0006938 | Impaired vibration sensation at ankles |
| HP:0007024 | Pseudobulbar paralysis |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0008209 | Premature ovarian insufficiency |
| HP:0100660 | Dyskinesia |
