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Gaucher's disease type III
Summary
- Synonym
-
- GD III
- Gaucher Disease, Chronic Neuronopathic Type
- Gaucher Disease, Juvenile And Adult, Cerebral
- Gaucher Disease, Subacute Neuronopathic Type
- Definition
- A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
- Super Class
- Gaucher's disease autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110959
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04062 | Lysosomal acid glucosylceramidase | |
| P12821 | Angiotensin-converting enzyme | |
| Q13231 | Chitotriosidase-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002797 | Osteolysis |
| HP:0001510 | Growth delay |
| HP:0010702 | Increased circulating antibody level |
| HP:0001744 | Splenomegaly |
| HP:0000823 | Delayed puberty |
| HP:0002240 | Hepatomegaly |
| HP:0000093 | Proteinuria |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0000602 | Ophthalmoplegia |
| HP:0004380 | Aortic valve calcification |
