DISEASES

Disease-gene associations mined from literature

Human genes for abetalipoproteinemia

Abetalipoproteinemia [DOID:1386]

A hypolipoproteinemia that is characterized by an inablility 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:  abetalipoproteinemia,  DOID:1386,  abetalipoproteinemias,  familial hypobetalipoproteinemia,  microsomal triglyceride transfer protein deficiency disease ...

Linkouts:  OMIM #1 #2 #3