HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B

Question 1

What is  HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B?

Accepted Answer

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]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Familiäre Hypercholesterinämie, autosomal dominant

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 144010

Question 4

Which enzymes are involved?

Accepted Answer

Apolipoprotein B-100

Disease	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B
Synonym	APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE
OMIM	144010 OMIM = Online Mendelian Inheritance of Men
Orphanet	391665
Protein (UniProt)	Apolipoprotein B-100
Gene locus	2p24.1
ICD	E78.1
Summary	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