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abetalipoproteinemia

Disease Summary
Associated Targets (5)
Tclin

4

Tchem

1


GARD Rare
Mondo Description Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.
Uniprot Description An autosomal recessive disorder of lipoprotein metabolism. Affected individuals produce virtually no circulating apolipoprotein B-containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein(A)). Malabsorption of the antioxidant vitamin E occurs, leading to spinocerebellar and retinal degeneration.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0008692:  abetalipoproteinemia
GARD:0000005: 
MESH:D000012: 
NCIT:C84525: 
Orphanet:14: 
SCTID:190787008: 
UMLS:C0000744: