Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
GM1 gangliosidosis type 1
Summary
- Definition
- A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death.
- Super Class
- GM1 gangliosidosis
External Links
- Disease Ontology
- DOID:0080502
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P10619 | Lysosomal protective protein | |
| P15289 | Arylsulfatase A | |
| P16278 | Beta-galactosidase | |
| Q13231 | Chitotriosidase-1 | |
| Q99519 | Sialidase-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000924 | Abnormality of the skeletal system |
| HP:0000926 | Platyspondyly |
| HP:0000943 | Dysostosis multiplex |
| HP:0001007 | Hirsutism |
| HP:0001072 | Thickened skin |
| HP:0001230 | Broad metacarpals |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
