autosomal recessive hypercholesterolemia

Term ID

DOID:0090105

Synonyms

• ARH
• ARH1
• ARH2
• autosomal recessive hypercholesterolemia 1
• autosomal recessive hypercholesterolemia 2
• familial autosomal recessive hypercholesterolemia
• FHCB1
• FHCB2

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. (2)

References

• ICD10CM:E78.0
• OMIM:603813
• ORDO:391665

Ontology

Human Disease   ( DOID:0090105 )