HYPERCHOLESTEROLEMIA, FAMILIAL, 3 (FHCL3)

Question 1

What is  HYPERCHOLESTEROLEMIA, FAMILIAL, 3 (FHCL3)?

Accepted Answer

very rare

autosomal dominant

mutation in the PCSK9 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 603776

Question 3

Which enzymes are involved?

Accepted Answer

Proprotein convertase subtilisin/kexin type 9

Disease	HYPERCHOLESTEROLEMIA, FAMILIAL, 3 (FHCL3)
Synonym	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
OMIM	603776 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Proprotein convertase subtilisin/kexin type 9
ExPASy	3.4.21.61
Gene locus	1p32.3
ICD
Summary	very rare autosomal dominant mutation in the PCSK9 gene
Laboratory findings	Apolipoprotein (Apo B) inc (plasma) HDL-Cholesterol n/d (plasma) LDL-Cholesterol inc (plasma)
Symptoms	corneal arcus myocardial infarction, myocardial ischemia onset, adulthood xanthelasma xanthoma