abetalipoproteinemia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description 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 caused by mutation of 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). (Human Disease Ontology, DOID_1386)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008181
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Genes

1 genes associated with the abetalipoproteinemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
MTTP microsomal triglyceride transfer protein