DISEASES

Disease-gene associations mined from literature

Human genes for autosomal recessive hypercholesterolemia

Autosomal recessive hypercholesterolemia [DOID:0090105]

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.

Synonyms:  autosomal recessive hypercholesterolemia,  DOID:0090105,  autosomal recessive hypercholesterolemias,  ARH,  ARH1 ...