Details of Disease

Disease Name

Gaucher disease type I

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

General Information of Disease (ID: DIS87KKY)

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]
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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]
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⏷ 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]
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⏷ 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.