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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:0001903 | Anemia |
| HP:0001928 | Abnormality of coagulation |
| HP:0001971 | Hypersplenism |
| HP:0002027 | Abdominal pain |
| HP:0002039 | Anorexia |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0002176 | Spinal cord compression |
| HP:0002240 | Hepatomegaly |
| HP:0002653 | Bone pain |
| HP:0002750 | Delayed skeletal maturation |
