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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 |
|---|---|---|---|
| 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 |
| 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) |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001332 | Dystonia |
| HP:0006938 | Impaired vibration sensation at ankles |
| HP:0001265 | Hyporeflexia |
| HP:0100660 | Dyskinesia |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0000518 | Cataract |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0001761 | Pes cavus |
