LDLR gene related symptoms and diseases

All the information presented here about the LDLR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LDLR gene

Symptoms // Phenotype % Cases
Peripheral arterial stenosis Very Common - Between 80% and 100% cases
Supravalvular aortic stenosis Very Common - Between 80% and 100% cases
Myocardial infarction Very Common - Between 80% and 100% cases
Hypercholesterolemia Very Common - Between 80% and 100% cases
Optic neuropathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with LDLR gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Left ventricular failure
  • Increased LDL cholesterol concentration
  • Premature coronary artery atherosclerosis
  • Renal artery stenosis
  • Tendon xanthomatosis
  • Renal steatosis
  • Calcification of the aorta
  • Pain

And 30 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LDLR gene

Here you will find a list of rare diseases related to the LDLR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPERCHOLESTEROLEMIA, FAMILIAL


Alternate names

HYPERCHOLESTEROLEMIA, FAMILIAL Is also known as fh, ldl receptor disorder, hyper-low-density-lipoproteinemia, hypercholesterolemic xanthomatosis, familial, fhc, hyperlipoproteinemia, type iia, hyperlipoproteinemia, type ii

Description

Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL), which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis). The disorder occurs in 2 clinical forms: homozygous and heterozygous (summary by Hobbs et al., 1992).

Most common symptoms of HYPERCHOLESTEROLEMIA, FAMILIAL

  • Pain
  • Peripheral neuropathy
  • Dilatation
  • Stroke
  • Myocardial infarction


More info about HYPERCHOLESTEROLEMIA, FAMILIAL

SOURCES: OMIM

HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA


Alternate names

HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA Is also known as hofh

Most common symptoms of HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

  • Hypertension
  • Dyspnea
  • Arthralgia
  • Hepatic steatosis
  • Sudden cardiac death


More info about HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

SOURCES: ORPHANET


Potential gene panels for LDLR gene

LDLR Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the LDLR gene.

More info about this panel

LDLR Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the LDLR gene.

More info about this panel

LDLR Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the LDLR gene.

More info about this panel

LDLR Sequence Analysis (Familial Mutation/Variant Analysis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the LDLR gene.

More info about this panel

LDLR Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the LDLR gene.

More info about this panel

Hypercholesterolemia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hypercholesterolemia that also includes the following genes: LDLRAP1 PCSK9 LDLR

More info about this panel

Familial Hypercholesterolemia Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the LDLR gene.

More info about this panel

LDLR full gene sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the LDLR gene.

More info about this panel

LDLR Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the LDLR gene.

More info about this panel

Familial hypercholesterolemia Panel

United States.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children Familial hypercholesterolemia that also includes the following genes: PCSK9 LDLR

More info about this panel

FHNext Panel

United States.

By Ambry Genetics FHNext that also includes the following genes: SLCO1B1 LDLRAP1 PCSK9 LDLR

More info about this panel

Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis that also includes the following genes: SAR1B SLCO1B1 ABCG5 ABCG8 LMF1 SCARB1 APOA5 LDLRAP1 CETP PCSK9

More info about this panel

LDLR. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the LDLR gene.

More info about this panel

APOB, PCSK9, LDLRAP1, LDLR. NextGeneDx. Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica APOB, PCSK9, LDLRAP1, LDLR. NextGeneDx. Complete sequencing by NGS that also includes the following genes: LDLRAP1 PCSK9 LDLR

More info about this panel

Hypercholesterolemia, familial (sequence analysis of LDLR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LDLR gene.

More info about this panel

Hypercholesterolemia, familial (deletion/duplication analysis of LDLR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LDLR gene.

More info about this panel

Hypercholesterolemia, familial (NGS panel for 15 genes) Panel

Portugal.

By CGC Genetics Hypercholesterolemia, familial (NGS panel for 15 genes) that also includes the following genes: ABCG5 ABCG8 APTX PPP1R17 LDLRAP1 PCSK9 EPHX2 GHR ITIH4 LDLR

More info about this panel

Hypercholesterolemia, familial (NGS panel for 3 genes) Panel

Portugal.

By CGC Genetics Hypercholesterolemia, familial (NGS panel for 3 genes) that also includes the following genes: PCSK9 LDLR

More info about this panel

Familial hypercholesterolemia Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the LDLR gene.

More info about this panel

Familial Hypercholesterolemia, Autosomal Dominant, 2 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Familial Hypercholesterolemia, Autosomal Dominant, 2 that also includes the following genes: GHR LDLR

More info about this panel

LDL cholesterol level QTL2 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the LDLR gene.

More info about this panel

Familial hypercholesterolemia Panel

Norway.

By Unit for Cardiac and Cardiavasular Genetics Oslo University Hospital HF - Ullevaal Familial hypercholesterolemia that also includes the following genes: LDLRAP1 PCSK9 LDLR

More info about this panel

Familial Hypercholesterolemia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Familial Hypercholesterolemia Sequencing Panel with CNV Detection that also includes the following genes: LDLRAP1 PCSK9 LDLR

More info about this panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF

More info about this panel

Familial Hypercholesterolemia via the LDLR Gene Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LDLR gene.

More info about this panel

Familial Hypercholesterolemia Type B Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the LDLR gene.

More info about this panel

Familial Hypercholesterolemia Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the LDLR gene.

More info about this panel

Familial Hypercholesterolemia Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Familial Hypercholesterolemia that also includes the following genes: PCSK9 LDLR

More info about this panel

Hypercholesterolemia due to LDL-receptor-disorder AD Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LDLR gene.

More info about this panel

Familial Hypercholesterolemia Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the LDLR gene.

More info about this panel

Single gene testing LDLR Panel

Germany.

By CeGaT GmbH

This panel specifically test the LDLR gene.

More info about this panel

Hypercholesterolemia Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center

This panel specifically test the LDLR gene.

More info about this panel

Hypercholesterolemia, familial, LDLR Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the LDLR gene.

More info about this panel

Familial Hypercholesterolemia (FH, LDLR) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the LDLR gene.

More info about this panel

Ashkenazi Jewish diseases Panel

Estonia.

By Asper Biogene Asper Biogene LLC Ashkenazi Jewish diseases that also includes the following genes: BLM BRCA1 BRCA2 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 LRRK2 CFTR

More info about this panel

Familial Hypercholesterolemia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Familial Hypercholesterolemia that also includes the following genes: LDLRAP1 PCSK9 LDLR

More info about this panel

Familial hypercholesterolemia Panel

Spain.

By Health in Code

This panel specifically test the LDLR gene.

More info about this panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Spain.

By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Familialhypercholesterolemia Basic Panel Panel

Spain.

By Health in Code Familialhypercholesterolemia Basic Panel that also includes the following genes: SLCO1B1 LDLRAP1 PCSK9 APOE LDLR

More info about this panel

Dyslipidemias / Early atherosclerosis Panel

Spain.

By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1

More info about this panel

Familialhypercholesterolemia Extended Panel Panel

Spain.

By Health in Code Familialhypercholesterolemia Extended Panel that also includes the following genes: RYR1 SLCO1B1 SLC22A8 ABCG5 ABCG8 LDLRAP1 CH25H PCSK9 CPT2 COQ2

More info about this panel

Arrhythmia General Panel Panel

Spain.

By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2

More info about this panel

Familial Hypercholesterolaemia Genetic Screen Panel

Australia.

By Cardiovascular Genetics Laboratory PathWest Laboratory Medicine WA Familial Hypercholesterolaemia Genetic Screen that also includes the following genes: ABCG5 ABCG8 LDLRAP1 PCSK9 STAP1 APOE LDLR LIPA

More info about this panel

Familial hypercholesterolemia (APOB, LDLR, PCSK9) Panel

Belgium.

By Center for Human Genetics Cliniques Universitaires Saint Luc Familial hypercholesterolemia (APOB, LDLR, PCSK9) that also includes the following genes: PCSK9 LDLR

More info about this panel

Hypercholesterolemia Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the LDLR gene.

More info about this panel

LDLR Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the LDLR gene.

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Hypercholesterolemia Panel

Slovakia.

By MedGene

This panel specifically test the LDLR gene.

More info about this panel

Invitae Familial Hypercholesterolemia Panel Panel

United States.

By Invitae Invitae Familial Hypercholesterolemia Panel that also includes the following genes: LDLRAP1 PCSK9 LDLR

More info about this panel

Hypercholesterolemia, Familial: LDLR gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the LDLR gene.

More info about this panel

Hypercholesterolemia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hypercholesterolemia that also includes the following genes: LDLRAP1 PCSK9 LDLR

More info about this panel

Early-Onset Coronary Artery Disease/Familial Hypercholesterolemia Full Gene Sequencing Panel Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Early-Onset Coronary Artery Disease/Familial Hypercholesterolemia Full Gene Sequencing Panel that also includes the following genes: PCSK9 APOC3 LDLR PON2

More info about this panel

Familial Hypercholesterolemia Profile Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Familial Hypercholesterolemia Profile that also includes the following genes: PCSK9 LDLR

More info about this panel

LDLR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LDLR gene.

More info about this panel

Familial Hypercholesterolemia (FH) Panel Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano Familial Hypercholesterolemia (FH) Panel that also includes the following genes: PCSK9 LDLR

More info about this panel

Familial Hypercholesterolemia (FH), Single Site Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano Familial Hypercholesterolemia (FH), Single Site that also includes the following genes: PCSK9 LDLR

More info about this panel

Hyperlipidemia Core Panel Panel

Finland.

By Blueprint Genetics Hyperlipidemia Core Panel that also includes the following genes: LDLRAP1 PCSK9 LDLR

More info about this panel

Hyperlipidemia Panel Panel

Finland.

By Blueprint Genetics Hyperlipidemia Panel that also includes the following genes: ABCG5 ABCG8 LMF1 APOA5 LDLRAP1 CREB3L3 PCSK9 GPIHBP1 ALMS1 APOC2

More info about this panel

Genetic Study of Familial Hypercholesterolemia Panel

Portugal.

By HeartGenetics, Genetics and Biotechnology, SA Genetic Study of Familial Hypercholesterolemia that also includes the following genes: LDLRAP1 PCSK9 STAP1 APOE LDLR

More info about this panel

Familial hypercholesterolemia Panel

Spain.

By Bioarray

This panel specifically test the LDLR gene.

More info about this panel

Familial Hypercholesterolemia NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Familial Hypercholesterolemia NGS and Deletion/Duplication Panel that also includes the following genes: LDLRAP1 PCSK9 LDLR

More info about this panel

Familial Hypercholesterolemia, Autosomal Dominant NGS Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Familial Hypercholesterolemia, Autosomal Dominant NGS Panel that also includes the following genes: PCSK9 LDLR

More info about this panel

LDLR Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the LDLR gene.

More info about this panel

iGene Cardiac Panel Panel

United States.

By ApolloGen, Inc. iGene Cardiac Panel that also includes the following genes: RYR2 SCN5A TNNI3 TNNT2 TPM1 TTN ACTC1 PCSK9 COL3A1 DSG2

More info about this panel

Familial Hypercholesterolemia Panel

Canada.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute Familial Hypercholesterolemia that also includes the following genes: LDLRAP1 PCSK9 LDLR

More info about this panel

Familial Hypercholesterolemia Panel

United States.

By Color Familial Hypercholesterolemia that also includes the following genes: PCSK9 LDLR

More info about this panel

FAMILIAL HYPERCHOLESTEROLEMIA Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HYPERCHOLESTEROLEMIA that also includes the following genes: LDLRAP1 PCSK9 CYP7A1 LDLR

More info about this panel

FAMILIAL HYPOBETALIPOPROTEINEMIA/FAMILIAL HYPERCHOLESTEROLEMIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HYPOBETALIPOPROTEINEMIA/FAMILIAL HYPERCHOLESTEROLEMIA NGS PANEL that also includes the following genes: LDLRAP1 PCSK9 CYP7A1 ANGPTL3 LDLR MTTP

More info about this panel

Familial Hypercholesterolemia , Sequencing LDLR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LDLR gene.

More info about this panel

Familial Hypercholesterolemia , Deletions-Duplications (MLPA) LDLR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LDLR gene.

More info about this panel

Familial Hypercholesterolemia , Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Hypercholesterolemia , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: LDLRAP1 PCSK9 LDLR

More info about this panel

Familial hypercholesterolemia Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the LDLR gene.

More info about this panel

Phosphorus Familial Hypercholesterolemia Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Familial Hypercholesterolemia Panel that also includes the following genes: LDLRAP1 PCSK9 LDLR

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

Familial Hypercholesterolemia: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Familial Hypercholesterolemia: gene sequencing panel that also includes the following genes: PCSK9 LDLR

More info about this panel

Familial hypercholesterinaemia Panel

Hungary.

By Genomic Laboratory Semmelweis University

This panel specifically test the LDLR gene.

More info about this panel


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