RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
An autosomal recessive disorder of lipid metabolism. It is 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). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.
Synonyms:
exact_synonym:
ABL; Acanthocytosis; Bassen Kornzweig Disease; Bassen Kornzweig Syndrome; Betalipoprotein Deficiency Disease; MTP deficiency; Microsomal Triglyceride Transfer Protein Deficiency; acanthocytoses; betalipoprotein deficiency diseases; microsomal triglyceride transfer protein deficiency disease
DNA:missense mutations:cds:multiple (human) ClinVar Annotator: match by term: Betalipoprotein deficiency disease DNA:mutations:cds:multiple (human) DNA:insertion:cds:c.419-420insA (human) ClinVar Annotator: match by OMIM:200100 ClinVar Annotator: match by term: Abetalipoproteinemia