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
Displaying all 7 entries
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)
Displaying 1 entry
Gene ID Gene Symbol Description Source
14466 Gba1 glucosylceramidase beta 1
Displaying all 4 entries
Gene ID Gene Symbol Description Source
173574 gba-1 Putative glucosylceramidase 1
177314 gba-4 Putative glucosylceramidase 4
178535 gba-3 Putative glucosylceramidase 3
183155 gba-2 Putative glucosylceramidase 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 56 in total
HPO ID HPO Term
HP:0000225 Gingival bleeding
HP:0000716 Depression
HP:0000790 Hematuria
HP:0000823 Delayed puberty
HP:0000938 Osteopenia
HP:0000939 Osteoporosis
HP:0000978 Bruising susceptibility
HP:0001081 Cholelithiasis
HP:0001300 Parkinsonism
HP:0001394 Cirrhosis
Displaying 1 entry
Gene ID Gene Symbol Description
2629 GBA1 glucosylceramidase beta 1

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Last updated: August 19, 2024