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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:0012753 | T2 hypointense basal ganglia |
| HP:0100767 | Abnormal placenta morphology |
| HP:3000050 | Abnormal odontoid tissue morphology |
| HP:0003510 | Severe short stature |
| HP:0000470 | Short neck |
| HP:0001654 | Abnormal heart valve morphology |
| HP:0001071 | Angiokeratoma corporis diffusum |
| HP:0001522 | Death in infancy |
| HP:0000023 | Inguinal hernia |
| HP:0004568 | Beaking of vertebral bodies |
