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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 |
|---|---|---|
| P16278 | Beta-galactosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011968 | Feeding difficulties |
| HP:0003541 | Urinary glycosaminoglycan excretion |
| HP:0002376 | Developmental regression |
| HP:0007313 | Cerebral degeneration |
| HP:0002808 | Kyphosis |
| HP:0002240 | Hepatomegaly |
| HP:0003593 | Infantile onset |
| HP:0003510 | Severe short stature |
| HP:0002650 | Scoliosis |
| HP:0004568 | Beaking of vertebral bodies |
