LDLRAP1 gene related symptoms and diseases
All the information presented here about the LDLRAP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LDLRAP1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Tendon xanthomatosis | Very Common - Between 80% and 100% cases |
| Arthralgia | Very Common - Between 80% and 100% cases |
| Hyperlipidemia | Very Common - Between 80% and 100% cases |
| Hypercholesterolemia | Very Common - Between 80% and 100% cases |
| Xanthomatosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with LDLRAP1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Precocious atherosclerosis
- Supravalvular aortic stenosis
Not very common - Between 30% and 50% cases
- Abnormality of nervous system physiology
- Premature coronary artery atherosclerosis
- Renal artery stenosis
- Renal steatosis
- Calcification of the aorta
- Coronary artery aneurysm
And 26 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LDLRAP1 gene
Here you will find a list of rare diseases related to the LDLRAP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH
Alternate names
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH Is also known as fhcb2, formerly, arh2, formerly, fhcb1, formerly, hypercholesterolemia, autosomal recessive, 1, formerly, arh1, formerly, hypercholesterolemia, autosomal recessive, 2, formerly
Description
Autosomal recessive hypercholesterolemia is a rare monogenic disease characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease (summary by Sanchez-Hernandez et al., 2018).
Most common symptoms of HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH
- Pain
- Arthralgia
- Abnormality of the cardiovascular system
- Hypertriglyceridemia
- Aortic valve stenosis
More info about HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH
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 LDLRAP1
Potential gene panels for LDLRAP1 gene
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 United States.
LDLRAP1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the LDLRAP1 gene.
More info about this panel Germany.
FHNext Panel
United States.
By Ambry Genetics FHNext that also includes the following genes: SLCO1B1 LDLRAP1 PCSK9 LDLR
More info about this panel United States.
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 Netherlands.
LDLRAP1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the LDLRAP1 gene.
More info about this panel Spain.
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 Spain.
Hypercholesterolemia, AR (sequence analysis of LDLRAP1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the LDLRAP1 gene.
More info about this panel Portugal.
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 Portugal.
Hypercholesterolemia, autosomal recessive Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the LDLRAP1 gene.
More info about this panel Germany.
Hypercholesterolemia, familial, autosomal recessive Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the LDLRAP1 gene.
More info about this panel Germany.
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 Norway.
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 United States.
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 United States.
Familial Hypercholesterolemia via LDLRAP1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the LDLRAP1 gene.
More info about this panel United States.
Familial Hypercholesterolemia, Autosomal Recessive Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the LDLRAP1 gene.
More info about this panel Germany.
Hypercholesterolemia AR Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the LDLRAP1 gene.
More info about this panel Germany.
Familial Hypercholesterolemia, Autosomal Recessive (ARH, LDLRAP1) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the LDLRAP1 gene.
More info about this panel Germany.
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 Estonia.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Australia.
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 Spain.
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 United States.
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 Spain.
LDLRAP1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LDLRAP1 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Portugal.
Hypercholesterolemia, familial, autosomal recessive Panel
Spain.
By Bioarray
This panel specifically test the LDLRAP1 gene.
More info about this panel Spain.
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 United States.
LDLRAP1 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 LDLRAP1 gene.
More info about this panel United States.
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 Canada.
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 Spain.
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 Spain.
Autosomal Recessive Familial Hypercholesterolemia, Sequencing LDLRAP1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the LDLRAP1 gene.
More info about this panel Spain.
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 Spain.
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 United States.
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