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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:0007204 | Diffuse white matter abnormalities |
| HP:0008166 | Decreased beta-galactosidase activity |
| HP:0008479 | Hypoplastic vertebral bodies |
| HP:0008807 | Acetabular dysplasia |
| HP:0008812 | Flattened femoral head |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0010729 | Cherry red spot of the macula |
| HP:0011951 | Aspiration pneumonia |
| HP:0011968 | Feeding difficulties |
| HP:0012307 | Spatulate ribs |
