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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
External Links
- Disease Ontology
- DOID:0110957
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1118 | CHIT1 | chitinase 1 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 5660 | PSAP | prosaposin | |
| 7357 | UGCG | UDP-glucose ceramide glucosyltransferase | |
| 57733 | GBA3 | glucosylceramidase beta 3 (gene/pseudogene) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04062 | Lysosomal acid glucosylceramidase | |
| P07602 | Prosaposin | |
| P12821 | Angiotensin-converting enzyme | |
| P43034 | Platelet-activating factor acetylhydrolase IB subunit beta | |
| Q13231 | Chitotriosidase-1 | |
| Q9H227 | Cytosolic beta-glucosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000953 | Hyperpigmentation of the skin |
| HP:0007401 | Macular atrophy |
| HP:0001653 | Mitral regurgitation |
| HP:0002113 | Pulmonary infiltrates |
| HP:0000478 | Abnormality of the eye |
