go back

HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B

HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B
APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE
144010
OMIM = Online Mendelian Inheritance of Men
391665
Apolipoprotein B-100
2p24.1
E78.1
rare
autosomal dominant
Mutations in the apolipoprotein B-100 gene (APOB) can result in a phenotype that is clinically indistinguishable from familial hypercholesterolemia [Austin MA et al. 2004]
Laboratory findings   Cholesterol inc (serum)
   HDL-Cholesterol n/d (plasma)
   LDL-Cholesterol inc (plasma)
    Low-density lipoprotein (LDL) inc (serum)
Symptoms    corneal arcus
    coronary heart disease
    myocardial infarction, myocardial ischemia
    onset, adolescent
    onset, childhood
    onset, infancy
    xanthelasma
    xanthoma