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lipase deficiency, combined

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.
Uniprot Description Characterized by repeated episodes of pancreatitis, tuberous xanthomas and lipodystrophy and is caused by deficiency of both lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL).
Mondo Term and Equivalent IDs
MONDO:0009527:  lipase deficiency, combined
DOID:0111422: 
GARD:0010244: 
MESH:C535904: 
NCIT:C126558: 
Orphanet:535453: 
UMLS:C1855498: