hypercholesterolemia, familial, 4
Findings
No curated finding names hypercholesterolemia, familial, 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.
Definition from the Mondo Disease Ontology (MONDO:0011374), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 features
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.
- Decreased circulating LDL-C concentrationHPOHP:0003563
- 3 of 3 reported patients
- HypercholesterolemiaHPOHP:0003124
- 3 of 3 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 3 of 3 reported patients
- Tendon xanthomatosisHPOHP:0010874
- 3 of 3 reported patients
Genes
1 gene
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.
- LDLRAP1HGNC:18640
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: hypercholesterolemia, familial, 4
- Also called
- ARH