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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:0004963 | Calcification of the aorta |
| HP:0005619 | Thoracolumbar kyphosis |
| HP:0006530 | Abnormal pulmonary interstitial morphology |
| HP:0006689 | Bacterial endocarditis |
| HP:0007957 | Corneal opacity |
| HP:0010543 | Opsoclonus |
| HP:0011968 | Feeding difficulties |
| HP:0012389 | Appendicular hypotonia |
| HP:0200042 | Skin ulcer |
| HP:0001718 | Mitral stenosis |
