familial hypercholesterolemia

Findings

No curated finding names familial hypercholesterolemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• familial hyperlipidemia
• hyperlipoproteinemia

Narrower terms (5)

• homozygous familial hypercholesterolemia
• hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• hypercholesterolemia, autosomal dominant, 3
• hypercholesterolemia, autosomal dominant, type B
• hypercholesterolemia, familial, 1

Resolves to: familial hypercholesterolemia

Also called

hyperlipoproteinemia type II