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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:0000657 | Oculomotor apraxia |
| HP:0000767 | Pectus excavatum |
| HP:0000823 | Delayed puberty |
| HP:0000974 | Hyperextensible skin |
| HP:0001058 | Poor wound healing |
| HP:0001081 | Cholelithiasis |
| HP:0001085 | Papilledema |
| HP:0001249 | Intellectual disability |
| HP:0001258 | Spastic paraplegia |
| HP:0001265 | Hyporeflexia |
