familial lipase maturation factor 1 deficiency

Summary

DOID:0111422 - familial lipase maturation factor 1 deficiency

Disease Ontology Definition:A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3.

Synonyms: LPL and HL deficiency, LPL and HTGL deficiency, combined lipase deficiency, familial LMF1 deficiency, lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: lmf1

OMIM:

MIM:246650 - lipase deficiency, combined

MIM:246650 - lipase deficiency, combined

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), familial chylomicronemia syndrome (is_a)