HYPERCHOLESTEROLEMIA, FAMILIAL, 4 (FHCL4)

Question 1

What is  HYPERCHOLESTEROLEMIA, FAMILIAL, 4 (FHCL4)?

Accepted Answer

very rare

autosomal recessive

mutation in the ARH gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 603813

Question 3

Which enzymes are involved?

Accepted Answer

Low density lipoprotein receptor adapter protein 1

Disease	HYPERCHOLESTEROLEMIA, FAMILIAL, 4 (FHCL4)
Synonym	HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH
OMIM	603813 OMIM = Online Mendelian Inheritance of Men
Orphanet	391665
Protein (UniProt)	Low density lipoprotein receptor adapter protein 1
Gene locus	1p36.11
ICD	E78.0
Summary	very rare autosomal recessive mutation in the ARH gene
Laboratory findings	Apolipoprotein (Apo B) inc (plasma) HDL-Cholesterol n/d (plasma) LDL-Cholesterol inc (urine)
Symptoms	corneal arcus myocardial infarction, myocardial ischemia onset, adolescent xanthelasma xanthoma