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 51 - 56 of 56 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
2629 GBA1 glucosylceramidase beta 1

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024