abetalipoproteinemia

Summary

DOID:1386 - abetalipoproteinemia

Disease Ontology Definition:A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS.

Synonyms: familial hypobetalipoproteinemia, microsomal triglyceride transfer protein deficiency disease

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

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

: mttp

MIM:

MIM:200100 - abetalipoproteinemia; abl

MIM:200100 - abetalipoproteinemia; abl

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

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

Parent(s): autosomal recessive disease (is_a), hypolipoproteinemia (is_a)