Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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: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 |
