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GM1 gangliosidosis type 3
Summary
- Synonym
-
- adult-onset GM1 gangliosidosis
- Definition
- A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years.
- Super Class
- GM1 gangliosidosis
External Links
- Disease Ontology
- DOID:0080489
- 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:0001251 | Ataxia |
| HP:0008166 | Decreased beta-galactosidase activity |
| HP:0001336 | Myoclonus |
| HP:0002650 | Scoliosis |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002119 | Ventriculomegaly |
| HP:0003651 | Foam cells |
| HP:0001256 | Intellectual disability, mild |
| HP:0008430 | Anterior beaking of lumbar vertebrae |
| HP:0001347 | Hyperreflexia |
