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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:0002506 | Diffuse cerebral atrophy |
| HP:0002652 | Skeletal dysplasia |
| HP:0002684 | Thickened calvaria |
| HP:0002690 | Large sella turcica |
| HP:0002869 | Flared iliac wing |
| HP:0003026 | Short long bone |
| HP:0003541 | Urinary glycosaminoglycan excretion |
| HP:0004562 | Beaking of vertebral bodies T12-L3 |
| HP:0005280 | Depressed nasal bridge |
| HP:0006371 | Broad long bone diaphyses |
