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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 |
|---|---|---|---|
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 2583 | B4GALNT1 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | |
| 3897 | L1CAM | L1 cell adhesion molecule | |
| 4099 | MAG | myelin associated glycoprotein | |
| 5833 | PCYT2 | phosphate cytidylyltransferase 2, ethanolamine | |
| 8398 | PLA2G6 | phospholipase A2 group VI | |
| 8869 | ST3GAL5 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | |
| 9197 | SLC33A1 | solute carrier family 33 member 1 | |
| 9420 | CYP7B1 | cytochrome P450 family 7 subfamily B member 1 | |
| 10908 | PNPLA6 | patatin like phospholipase domain containing 6 |
| 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 |
