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Gaucher's disease type IIIC
Summary
- Synonym
-
- GD3C
- Gaucher disease type 3C
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- Gaucher-like disease
- cardiovascular Gaucher disease
- Definition
- A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22.
- Super Class
- Gaucher's disease type III
External Links
- Disease Ontology
- DOID:0112250
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04062 | Lysosomal acid glucosylceramidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001873 | Thrombocytopenia |
| HP:0001876 | Pancytopenia |
| HP:0001903 | Anemia |
| HP:0002040 | Esophageal varix |
| HP:0002070 | Limb ataxia |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0002119 | Ventriculomegaly |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002136 | Broad-based gait |
