Details of Disease

General Information of Disease (ID: DISTW5JG)

• Disease Name: Gaucher disease
• Synonyms: glucosyl cerebroside lipidosis; sphingolipidosis 1; Gaucher splenomegaly; kerasin lipoidosis; kerasin histiocytosis; cerebroside lipidosis syndrome; acute cerebral Gaucher disease; glucosylceramidase deficiency; Gaucher's disease; glucocerebrosidase deficiency; glucocerebrosidosis; kerasin thesaurismosis; lipoid histiocytosis (kerasin type); acid beta-glucosidase deficiency; glocucerebrosidase deficiency; Gaucher disease; Gaucher syndrome; glucosylceramide beta-glucosidase deficiency
• Disease Class: 5C56: Lysosomal disease
• Definition: Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).
• Disease Hierarchy:
  DISB52BH: Eye disorder
  DISEC08E: Sphingolipidosis
  DISTW5JG: Gaucher disease
• ICD Code:
  ICD-11: ICD-11: 5C56.0Y
  ICD-9: ICD-9: 272.7
  Expand ICD-11: '5C56.0Y
  Expand ICD-9: 272.7
• Disease Identifiers:
  MONDO ID: MONDO_0018150
  MESH ID: D005776
  UMLS CUI: C0017205
  MedGen ID: 42164
  Orphanet ID: 355
  SNOMED CT ID: 180485001

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 5 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Imiglucerase	DM3OJVX	Approved	NA	[1]
Miglustat	DM5J64S	Approved	Small molecular drug	[2]
Olipudase alfa	DMO8N8N	Approved	NA	[3]
Velaglucerase alfa	DM4BOAS	Approved	NA	[4]
Voglibose	DMUBP9O	Approved	Small molecular drug	[5]

This Disease is Treated as An Indication in 4 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AVR-RD-02	DM6ZXAX	Phase 2/3	Gene therapy	[6]
Venglustat	DMLPEZS	Phase 2	NA	[7]
PR001	DMQWR4N	Phase 1/2	Gene therapy	[8]
BEL-0218	DMYJXQY	Phase 1	NA	[7]

This Disease is Treated as An Indication in 1 Discontinued Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Afegostat	DMRWSKX	Discontinued in Phase 2	Small molecular drug	[9]

This Disease is Treated as An Indication in 2 Preclinical Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
N-Octyl-beta-valienamine	DM39C47	Preclinical	Small molecular drug	[9]
NCGC607	DMXG0O1	Preclinical	Small molecular drug	[10]

This Disease is Treated as An Indication in 4 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
DA-3811	DMUUMRV	Investigative	NA	[11]
GD-AAV8	DMSYJ4C	Investigative	NA	[11]
JR-101	DMSBWSL	Investigative	NA	[11]
Recombinant glucocerebrosidase enzyme	DMYI9JF	Investigative	NA	[11]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 17 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HEXA	TTJI5JW	Limited	Genetic Variation	[12]
ASPA	TT6TLZP	Strong	Genetic Variation	[12]
C5	TTKANGO	Strong	Biomarker	[13]
C5AR1	TTHXFA1	Strong	Biomarker	[13]
CHIT1	TTDYX6T	Strong	Biomarker	[14]
GALC	TT5IZRB	Strong	Biomarker	[15]
GLA	TTIS03D	Strong	Biomarker	[16]
GPNMB	TT7315J	Strong	Biomarker	[17]
HAX1	TT21BYA	Strong	Genetic Variation	[18]
ITCH	TT5SEWD	Strong	Biomarker	[19]
MGAM	TTXWASR	Strong	Genetic Variation	[15]
PKLR	TT31N4S	Strong	Genetic Variation	[20]
PPT1	TTSQC14	Strong	Biomarker	[15]
SLC25A1	TTTD730	Strong	Biomarker	[21]
SMPD1	TTJTM88	Strong	Altered Expression	[22]
SNCA	TT08OSU	Strong	Genetic Variation	[23]
GBA1	TTCYHJ4	Definitive	Autosomal recessive	[24]

This Disease Is Related to 8 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
SI	DE5EO4Y	Strong	Genetic Variation	[15]
UGT1A10	DEL5N6Y	Strong	Genetic Variation	[25]
UGT1A3	DEF2WXN	Strong	Genetic Variation	[25]
UGT1A4	DELOY3P	Strong	Genetic Variation	[25]
UGT1A5	DEPF954	Strong	Genetic Variation	[25]
UGT1A6	DESD26P	Strong	Genetic Variation	[25]
UGT1A8	DE2GB8N	Strong	Genetic Variation	[25]
UGT1A9	DE85D2P	Strong	Genetic Variation	[25]

This Disease Is Related to 25 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLN8	OT0D4CB5	Limited	Genetic Variation	[26]
ACE	OTDF1964	moderate	Biomarker	[27]
APELA	OTYY0P69	Strong	Biomarker	[28]
ATP13A2	OTKWBUGK	Strong	Genetic Variation	[29]
CD1D	OT3ROU4J	Strong	Biomarker	[30]
CHI3L1	OT2Z7VJH	Strong	Altered Expression	[14]
DCAF1	OT3ZDVOE	Strong	Biomarker	[31]
DNAJB11	OTDDK2SY	Strong	Genetic Variation	[32]
DVL1	OTD67RF1	Strong	Biomarker	[33]
GBA2	OTOZXG5D	Strong	Biomarker	[34]
GBA3	OT86XWU2	Strong	Biomarker	[35]
INPP5K	OTQFLQKA	Strong	Biomarker	[36]
ISLR	OTOLYLGI	Strong	Altered Expression	[37]
MAN1A1	OT6LIGJP	Strong	Biomarker	[38]
MPEG1	OT7DAO0F	Strong	Biomarker	[39]
OGA	OT7ZBWT1	Strong	Altered Expression	[40]
PSAP	OTUOEKY7	Strong	Biomarker	[41]
RNASE1	OTKZ7CO9	Strong	Genetic Variation	[42]
RPAIN	OTBMXAYK	Strong	Biomarker	[31]
RPS27	OTFXKY7P	Strong	Biomarker	[39]
SCARB2	OTN929M8	Strong	Biomarker	[43]
TCP1	OT1MGUX9	Strong	Altered Expression	[44]
TFEB	OTJUJJQY	Strong	Genetic Variation	[45]
THBS3	OTDKMUBD	Strong	Biomarker	[46]
GBA1	OT0XMD63	Definitive	Autosomal recessive	[24]

References

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• [2] Miglustat FDA Label
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• [33] 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.
• [34] Assay of -glucosidase 2 (GBA2) activity using lithocholic acid -3-O-glucoside substrate for cultured fibroblasts and glucosylceramide for brain tissue.Biol Chem. 2019 May 27;400(6):745-752. doi: 10.1515/hsz-2018-0438.
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