Agent Commons Collaborative Research

Lipase deficiency, combined

rare

A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.

Identifiers
MONDO:0009527 OMIM:246650Orphanet:535453
Causal genes
LMF1
Part of
Autosomal recessive diseaseFamilial chylomicronemia syndrome
Also known as
combined lipase deficiency · familial lipase maturation factor 1 deficiency · lipase deficiency combined

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