Summary Literature (0)

DOID:1386 - abetalipoproteinemia

Disease Ontology Definition:A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_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 (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL).

Synonyms: familial hypobetalipoproteinemia, microsomal triglyceride transfer protein deficiency disease,

Echinobase Genes : mttp


OMIM:

MIM:200100 - abetalipoproteinemia; abl

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

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