Details of Disease | DrugMAP

General Information of Disease (ID: DIS1K1WK)

Disease Name	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Synonyms	Gaucher disease, type 3C; pseudo Gaucher disease; Gaucher disease, type IIIC; Gaucher disease - ophthalmoplegia - cardiovascular calcification; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type 3C; cardiovascular Gaucher disease; Gaucher-like disease
Definition	Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.
Disease Hierarchy	DISTW5JG: Gaucher disease DIS1K1WK: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Disease Identifiers	MONDO ID MONDO_0009268 MESH ID C565553 UMLS CUI C1856476 OMIM ID 231005 MedGen ID 341563 Orphanet ID 2072

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

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

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GBA1	OT0XMD63	Strong	Autosomal recessive	[2]
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References

1	Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
2	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.