autosomal recessive hypercholesterolemia

MeSH: C566331ORPHA: 391665

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

familial hypercholesterolemia characterized by autosomal inheritance that has material basis in homozygous mutation in the LDLRAP1 gene on chromosome 1p36

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with autosomal recessive hypercholesterolemia, sourced from HPO and Orphanet clinical annotations.

HyperlipidemiaHypercholesterolemiaIncreased LDL cholesterol concentrationPrecocious atherosclerosisPremature arteriosclerosisHypertensionHepatic steatosisSudden cardiac deathMyocardial infarctionCoronary artery atherosclerosisAngina pectorisRenal artery stenosisDyspneaPeripheral arterial stenosisAbnormal left ventricular functionPremature coronary artery atherosclerosisMyocardial steatosisCerebral artery atherosclerosisAortic atherosclerotic lesionHeart murmurAbnormal tendon morphologyAbnormal internal carotid artery morphologyRenal steatosisXanthomatosisMitral regurgitationArthralgiaSupravalvular aortic stenosisCalcification of the aortaTendon xanthomatosisOptic neuropathyAbnormal eye physiologyAbnormal nervous system physiologyCoronary artery aneurysm

Classification & Codes

MeSH Code

C566331

Orphanet Code

ORPHA:391665

autosomal recessive hypercholesterolemia

MeSH	`C566331`
Orphanet	`ORPHA:391665`
Treatments	0 drug(s)
Symptoms on record	33 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO