← Gene index
LDLR
HGNC ↗1 article(s) in the watch · Constitutional genetics
LDLR encodes the LDL receptor. Loss of function causes familial hypercholesterolaemia, with high premature cardiovascular risk.
InheritanceDominant (co-dominant: severe homozygous forms)
Clinical spectrumHypercholesterolaemia, premature coronary disease
ManagementHigh-intensity statins, ezetimibe, PCSK9 inhibitors; cascade family screening.
Curated publications
Frequently asked questions
How is a LDLR-related condition inherited?+
Dominant (co-dominant: severe homozygous forms)
What is the clinical spectrum associated with LDLR?+
Hypercholesterolaemia, premature coronary disease
What is the management associated with LDLR?+
High-intensity statins, ezetimibe, PCSK9 inhibitors; cascade family screening.
How many Geno'X publications cover the LDLR gene?+
1 publication(s) on LDLR have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics).
