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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
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 379299 | b4galnt1.L | beta-1,4-N-acetyl-galactosaminyl transferase 1 L homeolog | Xenopus laevis (African clawed frog) | |
| 100145208 | b4galnt1 | beta-1,4-N-acetyl-galactosaminyl transferase 1 | Xenopus tropicalis (tropical clawed frog) | |
| 108709867 | b4galnt1.S | beta-1,4-N-acetyl-galactosaminyl transferase 1 S homeolog | Xenopus laevis (African clawed frog) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000079 | Abnormality of the urinary system |
| HP:0000518 | Cataract |
| HP:0001249 | Intellectual disability |
| HP:0001265 | Hyporeflexia |
| HP:0001288 | Gait disturbance |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0001324 | Muscle weakness |
| HP:0001332 | Dystonia |
| HP:0001347 | Hyperreflexia |
| HP:0001761 | Pes cavus |
