Details of Disease | DrugMAP

General Information of Disease (ID: DISJFH8S)

Disease Name	Gaucher disease type III
Synonyms	Gaucher disease type 3; Gaucher disease, type III; Gaucher disease, type 3; Gaucher disease, type 3B; Gaucher disease, Norrbottnian type; Gaucher disease, type 3A; Gd 3; Gaucher disease, juvenile and adult, cerebral; Gaucher disease type III; Gaucher's disease type III; cerebral juvenile and adult form of Gaucher disease; Gaucher disease, Subacute neuronopathic type; Gaucher disease, subacute neuronopathic type; GD III; chronic neuronopathic Gaucher disease; Gaucher disease, chronic neuronopathic type
Definition	Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.
Disease Hierarchy	DISTW5JG: Gaucher disease DISJFH8S: Gaucher disease type III
Disease Identifiers	MONDO ID MONDO_0009267 MESH ID D005776 UMLS CUI C0268251 OMIM ID 231000 MedGen ID 78653 Orphanet ID 77261 SNOMED CT ID 5963005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GBA	TT1B5PU	Limited	Biomarker	[1]
SNCA	TT08OSU	Limited	Biomarker	[2]
CHIT1	TTDYX6T	Strong	Biomarker	[3]
GBA1	TTCYHJ4	Strong	Autosomal recessive	[4]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACE	OTDF1964	Strong	Biomarker	[5]
GBA1	OT0XMD63	Strong	Autosomal recessive	[4]
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References

1	Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31.
2	Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice.Hum Mol Genet. 2014 Aug 1;23(15):3943-57. doi: 10.1093/hmg/ddu105. Epub 2014 Mar 5.
3	Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.Hum Mutat. 2007 Sep;28(9):866-73. doi: 10.1002/humu.20524.
4	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.
5	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.