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Gaucher's disease type I
Summary
- Synonym
-
- Acid Beta-Glucosidase Deficiency
- GD I
- GD1
- Gaucher Disease, Noncerebral Juvenile
- Gba Deficiency
- Glucocerebrosidase Deficiency
- Definition
- A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
- Super Class
- Gaucher's disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04062 | Lysosomal acid glucosylceramidase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| A0A0G2JDK2 | Glucosylceramidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002756 | Pathologic fracture |
| HP:0002758 | Osteoarthritis |
| HP:0002797 | Osteolysis |
| HP:0002953 | Vertebral compression fracture |
| HP:0003233 | Decreased HDL cholesterol concentration |
| HP:0003281 | Increased circulating ferritin concentration |
| HP:0003656 | Decreased beta-glucocerebrosidase level |
| HP:0004322 | Short stature |
| HP:0004975 | Erlenmeyer flask deformity of the femurs |
| HP:0005230 | Biliary tract obstruction |
