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.

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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

SOURCES: MESH 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 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

LDLRAP1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the LDLRAP1 gene.

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

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

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, AR (sequence analysis of LDLRAP1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LDLRAP1 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, 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

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

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 LDLRAP1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LDLRAP1 gene.

More info about this panel

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

Hypercholesterolemia AR Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LDLRAP1 gene.

More info about this panel

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

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

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

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

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

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 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

LDLRAP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LDLRAP1 gene.

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

Hypercholesterolemia, familial, autosomal recessive Panel

Spain.

By Bioarray

This panel specifically test the LDLRAP1 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

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

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

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

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

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

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


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