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.
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
Search interest in LDLR
Potential gene panels for LDLR gene
LDLR Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the LDLR gene.
More info about this panelLDLR Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the LDLR gene.
More info about this panelLDLR Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the LDLR gene.
More info about this panelLDLR Sequence Analysis (Familial Mutation/Variant Analysis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the LDLR gene.
More info about this panelLDLR Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the LDLR gene.
More info about this panelHypercholesterolemia Panel
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 panelFamilial Hypercholesterolemia Panel
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the LDLR gene.
More info about this panelLDLR full gene sequencing Panel
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 panelLDLR Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the LDLR gene.
More info about this panelFamilial hypercholesterolemia Panel
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 panelFHNext Panel
By Ambry Genetics FHNext that also includes the following genes: SLCO1B1 LDLRAP1 PCSK9 LDLR
More info about this panelDyslipidemia NGS panel (29 genes), Sequence & CNV analysis Panel
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 panelLDLR. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the LDLR gene.
More info about this panelAPOB, PCSK9, LDLRAP1, LDLR. NextGeneDx. Complete sequencing by NGS Panel
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 panelHypercholesterolemia, familial (sequence analysis of LDLR gene) Panel
By CGC Genetics
This panel specifically test the LDLR gene.
More info about this panelHypercholesterolemia, familial (deletion/duplication analysis of LDLR gene) Panel
By CGC Genetics
This panel specifically test the LDLR gene.
More info about this panelHypercholesterolemia, familial (NGS panel for 15 genes) Panel
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 panelHypercholesterolemia, familial (NGS panel for 3 genes) Panel
By CGC Genetics Hypercholesterolemia, familial (NGS panel for 3 genes) that also includes the following genes: PCSK9 LDLR
More info about this panelFamilial hypercholesterolemia Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the LDLR gene.
More info about this panelFamilial Hypercholesterolemia, Autosomal Dominant, 2 Panel
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 panelLDL cholesterol level QTL2 Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the LDLR gene.
More info about this panelFamilial hypercholesterolemia Panel
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 panelFamilial Hypercholesterolemia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Familial Hypercholesterolemia Sequencing Panel with CNV Detection that also includes the following genes: LDLRAP1 PCSK9 LDLR
More info about this panelComprehensive Cardiology Sequencing Panel with CNV Detection Panel
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 panelFamilial Hypercholesterolemia via the LDLR Gene Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the LDLR gene.
More info about this panelFamilial Hypercholesterolemia Type B Panel
By MGZ Medical Genetics Center
This panel specifically test the LDLR gene.
More info about this panelFamilial Hypercholesterolemia Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the LDLR gene.
More info about this panelFamilial Hypercholesterolemia Panel
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 panelHypercholesterolemia due to LDL-receptor-disorder AD Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the LDLR gene.
More info about this panelFamilial Hypercholesterolemia Panel
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the LDLR gene.
More info about this panelSingle gene testing LDLR Panel
By CeGaT GmbH
This panel specifically test the LDLR gene.
More info about this panelHypercholesterolemia Panel
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the LDLR gene.
More info about this panelHypercholesterolemia, familial, LDLR Panel
By GGA - Galil Genetic Analysis
This panel specifically test the LDLR gene.
More info about this panelFamilial Hypercholesterolemia (FH, LDLR) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the LDLR gene.
More info about this panelAshkenazi Jewish diseases Panel
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 panelFamilial Hypercholesterolemia Panel
By Asper Biogene Asper Biogene LLC Familial Hypercholesterolemia that also includes the following genes: LDLRAP1 PCSK9 LDLR
More info about this panelFamilial hypercholesterolemia Panel
By Health in Code
This panel specifically test the LDLR gene.
More info about this panelInherited Cardiovascular Diseases and Sudden Death Panel Panel
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 panelCardiovascular Diseases_General Panel Panel
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 panelFamilialhypercholesterolemia Basic Panel Panel
By Health in Code Familialhypercholesterolemia Basic Panel that also includes the following genes: SLCO1B1 LDLRAP1 PCSK9 APOE LDLR
More info about this panelDyslipidemias / Early atherosclerosis Panel
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 panelFamilialhypercholesterolemia Extended Panel Panel
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 panelArrhythmia General Panel Panel
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 panelFamilial Hypercholesterolaemia Genetic Screen Panel
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 panelFamilial hypercholesterolemia (APOB, LDLR, PCSK9) Panel
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 panelHypercholesterolemia Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the LDLR gene.
More info about this panelLDLR Panel
By Division Human Genetics Medical University Innsbruck
This panel specifically test the LDLR gene.
More info about this panelqCarrier Plus Panel
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 panelHypercholesterolemia Panel
By MedGene
This panel specifically test the LDLR gene.
More info about this panelInvitae Familial Hypercholesterolemia Panel Panel
By Invitae Invitae Familial Hypercholesterolemia Panel that also includes the following genes: LDLRAP1 PCSK9 LDLR
More info about this panelHypercholesterolemia, Familial: LDLR gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the LDLR gene.
More info about this panelHypercholesterolemia Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hypercholesterolemia that also includes the following genes: LDLRAP1 PCSK9 LDLR
More info about this panelEarly-Onset Coronary Artery Disease/Familial Hypercholesterolemia Full Gene Sequencing Panel Panel
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 panelFamilial Hypercholesterolemia Profile Panel
By Integrated Genetics Westborough Integrated Genetics Familial Hypercholesterolemia Profile that also includes the following genes: PCSK9 LDLR
More info about this panelLDLR Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LDLR gene.
More info about this panelFamilial Hypercholesterolemia (FH) Panel Panel
By Quest Diagnostics Nichols Institute San Juan Capistrano Familial Hypercholesterolemia (FH) Panel that also includes the following genes: PCSK9 LDLR
More info about this panelFamilial Hypercholesterolemia (FH), Single Site Panel
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 panelHyperlipidemia Core Panel Panel
By Blueprint Genetics Hyperlipidemia Core Panel that also includes the following genes: LDLRAP1 PCSK9 LDLR
More info about this panelHyperlipidemia Panel Panel
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 panelGenetic Study of Familial Hypercholesterolemia Panel
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 panelFamilial hypercholesterolemia Panel
By Bioarray
This panel specifically test the LDLR gene.
More info about this panelFamilial Hypercholesterolemia NGS and Deletion/Duplication Panel Panel
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 panelFamilial Hypercholesterolemia, Autosomal Dominant NGS Panel Panel
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 panelLDLR Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the LDLR gene.
More info about this paneliGene Cardiac Panel Panel
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 panelFamilial Hypercholesterolemia Panel
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 panelFamilial Hypercholesterolemia Panel
By Color Familial Hypercholesterolemia that also includes the following genes: PCSK9 LDLR
More info about this panelFAMILIAL HYPERCHOLESTEROLEMIA Panel
By Laboratorio de Genetica Clinica SL FAMILIAL HYPERCHOLESTEROLEMIA that also includes the following genes: LDLRAP1 PCSK9 CYP7A1 LDLR
More info about this panelFAMILIAL HYPOBETALIPOPROTEINEMIA/FAMILIAL HYPERCHOLESTEROLEMIA NGS PANEL Panel
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 panelFamilial Hypercholesterolemia , Sequencing LDLR Gene Panel
By Reference Laboratory Genetics
This panel specifically test the LDLR gene.
More info about this panelFamilial Hypercholesterolemia , Deletions-Duplications (MLPA) LDLR Gene Panel
By Reference Laboratory Genetics
This panel specifically test the LDLR gene.
More info about this panelFamilial Hypercholesterolemia , Panel Massive Sequencing (NGS) 4 Genes Panel
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 panelFamilial hypercholesterolemia Panel
By Labor Dr. Wisplinghoff
This panel specifically test the LDLR gene.
More info about this panelPhosphorus Familial Hypercholesterolemia Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Familial Hypercholesterolemia Panel that also includes the following genes: LDLRAP1 PCSK9 LDLR
More info about this panelTempus xT assay Panel
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 panelTempus xO assay Panel
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 panelFamilial Hypercholesterolemia: gene sequencing panel Panel
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 panelFamilial hypercholesterinaemia Panel
By Genomic Laboratory Semmelweis University
This panel specifically test the LDLR gene.
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