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.
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
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 PCSK9
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 United States.
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 United States.
PCSK9 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PCSK9 gene.
More info about this panel Germany.
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 United States.
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.
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 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, familial (sequence analysis of PCSK9 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PCSK9 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, 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 Portugal.
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 Germany.
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 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.
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 United States.
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 Germany.
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 Germany.
Hypercholesterolemia 3 AD Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PCSK9 gene.
More info about this panel Germany.
Hypercholesterolemia, familial, PCSK9 Panel
Israel.
By GGA - Galil Genetic Analysis
This panel specifically test the PCSK9 gene.
More info about this panel Israel.
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 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.
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 Spain.
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.
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 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.
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 Belgium.
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.
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 Spain.
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 United States.
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 United States.
PCSK9 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PCSK9 gene.
More info about this panel United States.
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 United States.
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 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.
Familial hypercholesterolemia type 3 Panel
Spain.
By Bioarray
This panel specifically test the PCSK9 gene.
More info about this panel Spain.
Familial hypobetalipoproteinemia Panel
Spain.
By Bioarray
This panel specifically test the PCSK9 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.
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 United States.
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 United States.
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 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
United States.
By Color Familial Hypercholesterolemia that also includes the following genes: PCSK9 LDLR
More info about this panel United States.
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 Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL HYPOBETALIPOPROTEINEMIA that also includes the following genes: PCSK9 ANGPTL3 MTTP
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.
Familial Hypercholesterolemia , Sequencing PCSK9 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PCSK9 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.
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 Spain.
Hypercholesterolemia, autosomal dominant, 3 Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the PCSK9 gene.
More info about this panel Germany.
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.
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 United States.
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 Canada.
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