hypercholesterolemia, familial, 1

Findings

No curated finding names hypercholesterolemia, familial, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance · Autosomal recessive inheritance

HPO, annotations 2026-09-02

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, annotations 2026-09-02.

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 hypercholesterolemia

Resolves to: hypercholesterolemia, familial, 1

Also called

FHCL1hypercholesterolemia, familialhypercholesterolemia, familial, due to ldlr defect, modifier ofhypercholesterolemia, familial, modifier ofhypercholesterolemic xanthomatosis, familialhyperlipoproteinemia, type 2hyperlipoproteinemia, type 2ALDL cholesterol level QTL2LDL receptor disorder