PCSK9 gene related symptoms and diseases

All the information presented here about the PCSK9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PCSK9 gene

Symptoms // Phenotype % Cases
Hypercholesterolemia Very Common - Between 80% and 100% cases
Increased LDL cholesterol concentration Uncommon - Between 30% and 50% cases
Abnormal internal carotid artery morphology Uncommon - Between 30% and 50% cases
Myocardial steatosis Uncommon - Between 30% and 50% cases
Cerebral artery atherosclerosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PCSK9 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormal tendon morphology
  • Aortic atherosclerosis
  • Premature arteriosclerosis
  • Abnormality of nervous system physiology
  • Coronary artery aneurysm
  • Calcification of the aorta
  • Renal steatosis
  • Tendon xanthomatosis

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to PCSK9 gene

Here you will find a list of rare diseases related to the PCSK9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3


Alternate names

HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 Is also known as fh3

Most common symptoms of HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3

  • Hypercholesterolemia


More info about HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3

SOURCES: OMIM MESH

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 PCSK9 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

Hypolipidemia and Hypocholesterolemia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hypolipidemia and Hypocholesterolemia that also includes the following genes: PCSK9 ANGPTL3 MTTP

More info about this panel

PCSK9 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the PCSK9 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

PCSK9. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PCSK9 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 PCSK9 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PCSK9 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, Autosomal Dominant, 3 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the PCSK9 gene.

More info about this panel

Low density lipoprotein cholesterol level QTL 1 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the PCSK9 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

Familial Hypercholesterolemia via PCSK9 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PCSK9 gene.

More info about this panel

Familial Hypercholesterolemia, Autosomal Dominant, 3 Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the PCSK9 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 3 AD Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PCSK9 gene.

More info about this panel

Hypercholesterolemia, familial, PCSK9 Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the PCSK9 gene.

More info about this panel

Familial Hypercholesterolemia, Autosomal Dominant, 3 (PCSK9) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the PCSK9 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

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

Hypolipidemias Panel

Spain.

By Health in Code Hypolipidemias that also includes the following genes: SAR1B PCSK9 MYLIP ANGPTL3 APOC3 LCAT ABCG1 MTTP

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

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

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

Hypobetalipoproteinemia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hypobetalipoproteinemia that also includes the following genes: PCSK9 ANGPTL3 MTTP

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

PCSK9 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PCSK9 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 type 3 Panel

Spain.

By Bioarray

This panel specifically test the PCSK9 gene.

More info about this panel

Familial hypobetalipoproteinemia Panel

Spain.

By Bioarray

This panel specifically test the PCSK9 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

PCSK9 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 PCSK9 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 Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HYPOBETALIPOPROTEINEMIA that also includes the following genes: PCSK9 ANGPTL3 MTTP

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 PCSK9 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PCSK9 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 Hypobetalipoproteinemia , Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Hypobetalipoproteinemia , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: PCSK9 ANGPTL3 MTTP

More info about this panel

Hypercholesterolemia, autosomal dominant, 3 Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the PCSK9 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 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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ASMT

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more