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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:0007759 | Opacification of the corneal stroma |
| HP:0000623 | Supranuclear ophthalmoplegia |
| HP:0002240 | Hepatomegaly |
| HP:0001250 | Seizure |
| HP:0007975 | Hypometric horizontal saccades |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001640 | Cardiomegaly |
| HP:0007885 | Slowed horizontal saccades |
| HP:0000666 | Horizontal nystagmus |
