General Information of Disease (ID: DIS87KKY)

Disease Name Gaucher disease type I
Synonyms
Gaucher disease type 1; Gaucher disease, type 1; Gaucher disease, type I; Gd 1; non-cerebral juvenile Gaucher disease; acid Beta-glucosidase deficiency; Gaucher disease type I; Gaucher disease, noncerebral juvenile; Gaucher's disease type I; GD I; Gba deficiency
Definition Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.
Disease Hierarchy
DISL4MMU: Familial restrictive cardiomyopathy
DISKV001: Osteonecrosis of genetic origin
DISH7JDC: Secondary avascular necrosis
DISZSG9R: Cerebral lipidosis with dementia
DISTW5JG: Gaucher disease
DIS87KKY: Gaucher disease type I
Disease Identifiers
MONDO ID
MONDO_0009265
MESH ID
D005776
UMLS CUI
C1961835
OMIM ID
230800
MedGen ID
409531
Orphanet ID
77259

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Velaglucerase alfa DM4BOAS Approved NA [1]
------------------------------------------------------------------------------------

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CHIT1 TTDYX6T Limited Biomarker [2]
CYP2D6 TTVG215 Disputed Genetic Variation [3]
ABCG5 TTKZ7WY Strong Biomarker [4]
GBA1 TTCYHJ4 Strong Autosomal recessive [5]
UGCG TTPHEX3 Strong Genetic Variation [6]
FBXO11 TT6G10V Definitive Genetic Variation [7]
------------------------------------------------------------------------------------
⏷ Show the Full List of 6 DTT(s)
This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SCARB2 OTN929M8 moderate GermlineModifyingMutation [8]
ABCG8 OTIJ76XW Strong Genetic Variation [4]
ACE OTDF1964 Strong Biomarker [9]
DVL1 OTD67RF1 Strong Altered Expression [10]
DVL2 OTMNYNCM Strong Altered Expression [10]
GBA1 OT0XMD63 Strong Autosomal recessive [5]
GBA3 OT86XWU2 Strong Genetic Variation [11]
MSH6 OT46FP09 Definitive Genetic Variation [7]
------------------------------------------------------------------------------------
⏷ Show the Full List of 8 DOT(s)

References

1 Velaglucerase alfa for the management of type 1 Gaucher disease. Clin Ther. 2012 Feb;34(2):259-71.
2 Modelling long-term evolution of chitotriosidase in non-neuronopathic Gaucher disease.Scand J Clin Lab Invest. 2017 Jul;77(4):275-282. doi: 10.1080/00365513.2017.1303191. Epub 2017 Mar 20.
3 Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial.Am J Hematol. 2019 Jan;94(1):29-38. doi: 10.1002/ajh.25300. Epub 2018 Oct 26.
4 Cholelithiasis in Patients with Gaucher Disease type 1: Risk Factors and the Role of ABCG5/ABCG8 Gene Variants.J Gastrointestin Liver Dis. 2016 Dec;25(4):447-455. doi: 10.15403/jgld.2014.1121.254.zim.
5 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
6 Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.Hum Mutat. 2013 Oct;34(10):1396-403. doi: 10.1002/humu.22381. Epub 2013 Aug 13.
7 Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis.Blood. 2012 May 17;119(20):4731-40. doi: 10.1182/blood-2011-10-386862. Epub 2012 Apr 4.
8 A mutation in SCARB2 is a modifier in Gaucher disease.Hum Mutat. 2011 Nov;32(11):1232-8. doi: 10.1002/humu.21566. Epub 2011 Sep 15.
9 Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy.Mol Genet Metab. 2002 Sep-Oct;77(1-2):91-8. doi: 10.1016/s1096-7192(02)00122-1.
10 A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models.Hum Mol Genet. 2020 Jan 15;29(2):274-285. doi: 10.1093/hmg/ddz293.
11 The cytosolic -glucosidase GBA3 does not influence type 1 Gaucher disease manifestation.Blood Cells Mol Dis. 2011 Jan 15;46(1):19-26. doi: 10.1016/j.bcmd.2010.07.009. Epub 2010 Aug 21.