/hypercholesterolemia, familial, 4

hypercholesterolemia, familial, 4

Rare Disease

MONDO:0011374

Also Known As

ARHfamilial autosomal recessive hypercholesterolemiaARH1ARH2autosomal recessive hypercholesterolemia 1autosomal recessive hypercholesterolemia 2FHCB1FHCB1, formerlyFHCB2FHCB2, formerlyhypercholesterolemia, autosomal recessivehypercholesterolemia, autosomal recessive, 1hypercholesterolemia, autosomal recessive, 1, formerlyhypercholesterolemia, autosomal recessive, 2hypercholesterolemia, autosomal recessive, 2, formerly

Definition

An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.