Details of Disease | DrugMAP

General Information of Disease (ID: DISWMWIH)

Disease Name	Lipase deficiency, combined
Synonyms	lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency; LPL and HL deficiency; lipase deficiency combined; LPL and HTGL deficiency; lipase deficiency, combined; combined lipase deficiency
Definition	A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISFZN9R: Familial chylomicronemia syndrome DISWMWIH: Lipase deficiency, combined
Disease Identifiers	MONDO ID MONDO_0009527 MESH ID C535904 UMLS CUI C1855498 OMIM ID 246650 MedGen ID 340886 Orphanet ID 535453

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LMF1	OTOL14ZD	Strong	Autosomal recessive	[1]
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References

1	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.