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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:0001387 | Joint stiffness |
| HP:0002650 | Scoliosis |
| HP:0000316 | Hypertelorism |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0000457 | Depressed nasal ridge |
| HP:0002808 | Kyphosis |
| HP:0001252 | Hypotonia |
| HP:0007313 | Cerebral degeneration |
