hypobetalipoproteinemia

GPTKB entity

Statements (19)
Predicate Object
gptkbp:instanceOf genetic disorder
metabolic disorder
gptkbp:affects lipid metabolism
gptkbp:causedBy mutations in the APOB gene
gptkbp:characterizedBy low levels of LDL cholesterol
gptkbp:diagnosedBy blood lipid panel
https://www.w3.org/2000/01/rdf-schema#label hypobetalipoproteinemia
gptkbp:ICD-10_code E78.6
gptkbp:inheritance autosomal dominant
autosomal recessive
gptkbp:relatedTo gptkb:abetalipoproteinemia
gptkbp:symptom gptkb:fat-soluble_vitamin_deficiency
fat malabsorption
steatorrhea
gptkbp:treatment dietary modification
vitamin supplementation
gptkbp:bfsParent gptkb:apolipoprotein_B-100
gptkb:APOB_gene
gptkbp:bfsLayer 7