HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (FHCL1)

Question 1

What is  HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (FHCL1)?

Accepted Answer

rare

autosomal dominant

autosomal recessive

mutation in the low density lipoprotein receptor gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Familiäre Hypercholesterinämie bei homozygoter Mutation

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 143890

Question 4

Which enzymes are involved?

Accepted Answer

Apolipoprotein E, Low-density lipoprotein receptor, Growth hormone receptor

Disease	HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (FHCL1)
Synonym	HYPERLIPOPROTEINEMIA, TYPE II; HYPERLIPOPROTEINEMIA, TYPE IIA
OMIM	143890 OMIM = Online Mendelian Inheritance of Men
Orphanet	391665
Protein (UniProt)	Apolipoprotein E, Low-density lipoprotein receptor, Growth hormone receptor
ExPASy	---
Gene locus	1q23.3, 3p21.1, 5p13-p12, 7p14.3, 8p21.2-p22, 9q31.1, 19p13.2
ICD	E78.0
Summary	rare autosomal dominant autosomal recessive mutation in the low density lipoprotein receptor gene
Laboratory findings	Cholesterol inc (plasma) HDL-Cholesterol n/d (plasma) LDL-Cholesterol inc (plasma) Low-density lipoprotein (LDL) inc (plasma)
Symptoms	arthritis atherosclerosis corneal arcus corneal deposits coronary heart disease heart failure, cardiac failure hypertension myocardial infarction, myocardial ischemia onset, adolescent xanthelasma xanthoma