APOC3 gene related symptoms and diseases

All the information presented here about the APOC3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to APOC3 gene

Symptoms // Phenotype % Cases
Increased HDL cholesterol concentration Very Common - Between 80% and 100% cases
Hypotriglyceridemia Very Common - Between 80% and 100% cases
Decreased LDL cholesterol concentration Uncommon - Between 30% and 50% cases
Hyperlipidemia Uncommon - Between 30% and 50% cases
Hypercholesterolemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with APOC3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Precocious atherosclerosis
  • Hyperlipoproteinemia
  • Tendon xanthomatosis

Rare diseases associated to APOC3 gene

Here you will find a list of rare diseases related to the APOC3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


APOLIPOPROTEIN C-III DEFICIENCY

Alternate names

APOLIPOPROTEIN C-III DEFICIENCY Is also known as hyperalphalipoproteinemia 2, halp2

Most common symptoms of APOLIPOPROTEIN C-III DEFICIENCY

  • Decreased LDL cholesterol concentration
  • Increased HDL cholesterol concentration
  • Hypotriglyceridemia


More info about APOLIPOPROTEIN C-III DEFICIENCY

SOURCES: MESH OMIM

CHOLESTEROL-ESTER TRANSFER PROTEIN DEFICIENCY

Alternate names

CHOLESTEROL-ESTER TRANSFER PROTEIN DEFICIENCY Is also known as cept deficiency, familial hyperalphalipoproteinemia

Most common symptoms of CHOLESTEROL-ESTER TRANSFER PROTEIN DEFICIENCY

  • Hyperlipidemia
  • Hypercholesterolemia
  • Precocious atherosclerosis
  • Hyperlipoproteinemia
  • Tendon xanthomatosis


More info about CHOLESTEROL-ESTER TRANSFER PROTEIN DEFICIENCY

SOURCES: ORPHANET


Potential gene panels for APOC3 gene

APOC3 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the APOC3 gene.

More info about this panel
Germany.

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.

APOC3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the APOC3 gene.

More info about this panel
Spain.

Hyperalphalipoproteinemia 2 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the APOC3 gene.

More info about this panel
Germany.

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.

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.

Primary familial hypertriglyceridemias Panel

Spain.

By Health in Code Primary familial hypertriglyceridemias that also includes the following genes: LMF1 PCDH15 TRIB1 APOA5 GPIHBP1 SLC25A40 PNPLA2 GPD1 APOC2 APOC3

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.

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.

APOC3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the APOC3 gene.

More info about this panel
United States.

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.

Hyperalphalipoproteinemia 2 Panel

Spain.

By Bioarray

This panel specifically test the APOC3 gene.

More info about this panel
Spain.

Hyperalphalipoproteinemia Type 2 , Sequencing APOC3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the APOC3 gene.

More info about this panel
Spain.

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