autosomal recessive hypercholesterolemia (DOID:0090105)
Alliance: disease page
Synonyms: ARH; ARH1; ARH2; autosomal recessive hypercholesterolemia 1; autosomal recessive hypercholesterolemia 2; familial autosomal recessive hypercholesterolemia; FHCB1; FHCB2
Alt IDs: OMIM:603813, ICD10CM:E78.0, ORDO:391665
Definition: A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36.