APOC2 gene related symptoms and diseases

All the information presented here about the APOC2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to APOC2 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Hypertriglyceridemia Very Common - Between 80% and 100% cases
Lipemia retinalis Very Common - Between 80% and 100% cases
Eruptive xanthomas Very Common - Between 80% and 100% cases
Epigastric pain Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with APOC2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Chronic pancreatitis
  • Hyperlipoproteinemia
  • Episodic abdominal pain
  • Hypercholesterolemia
  • Pancreatitis
  • Lethargy
  • Pain
  • Abnormality of the nervous system

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to APOC2 gene

Here you will find a list of rare diseases related to the APOC2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY


Alternate names

FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY Is also known as apoc2 deficiency, hyperlipoproteinemia, type ib, familial apoc-ii deficiency, c-ii anapolipoproteinemia

Most common symptoms of FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY

  • Global developmental delay
  • Pain
  • Hepatomegaly
  • Macrocephaly
  • Splenomegaly


More info about FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY

SOURCES: ORPHANET OMIM


Potential gene panels for APOC2 gene

Hypertriglyceridemias Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hypertriglyceridemias Panel that also includes the following genes: LMF1 APOA5 GPIHBP1 APOC2

More info about this panel

APOC2 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the APOC2 gene.

More info about this panel

APOC2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the APOC2 gene.

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

APOC2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the APOC2 gene.

More info about this panel

Apolipoprotein C-II deficiency (sequence analysis of APOC2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the APOC2 gene.

More info about this panel

Apolipoprotein C2 deficienc Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the APOC2 gene.

More info about this panel

Chylomicronemia Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Chylomicronemia that also includes the following genes: APOA5 GPIHBP1 APOC2 APOE

More info about this panel

Type 3 hyperlipoproteinemia Panel

Norway.

By Unit for Cardiac and Cardiavasular Genetics Oslo University Hospital HF - Ullevaal Type 3 hyperlipoproteinemia that also includes the following genes: LMF1 APOA5 GPIHBP1 APOC2

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

Apolipoprotein C-II deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the APOC2 gene.

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Apolipoprotein C-II Deficiency Panel

Estonia.

By Asper Biogene Asper Biogene LLC

This panel specifically test the APOC2 gene.

More info about this panel

Hypertriglyceridemia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Hypertriglyceridemia that also includes the following genes: LMF1 APOA5 GPIHBP1 GPD1 APOC2

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

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

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

Hypertriglyceridaemia genetic screen Panel

Australia.

By Cardiovascular Genetics Laboratory PathWest Laboratory Medicine WA Hypertriglyceridaemia genetic screen that also includes the following genes: LMF1 APOA5 GPIHBP1 APOC2 APOE

More info about this panel

Hyperlipoproteinemia, type Ib: sequencing APOC2 gene. Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the APOC2 gene.

More info about this panel

MAJOR HYPERTRIGLYCERIDEMIA Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases MAJOR HYPERTRIGLYCERIDEMIA that also includes the following genes: LMF1 APOA5 LIPI CREB3L3 GPIHBP1 APOC2

More info about this panel

APOC2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the APOC2 gene.

More info about this panel

Pancreatitis Panel Panel

Finland.

By Blueprint Genetics Pancreatitis Panel that also includes the following genes: SPINK1 UBR1 APOA5 CFTR CPA1 GPIHBP1 CTRC APOC2 PRSS1

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

Familial apolipoprotein C-II deficiency Panel

Spain.

By Bioarray

This panel specifically test the APOC2 gene.

More info about this panel

Hypertriglyceridemia Panel

Canada.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute Hypertriglyceridemia that also includes the following genes: LMF1 APOA5 GPIHBP1 APOC2

More info about this panel

HYPERLIPOPROTEINEMIA TYPE 1 Panel

Spain.

By Laboratorio de Genetica Clinica SL HYPERLIPOPROTEINEMIA TYPE 1 that also includes the following genes: LMF1 GPIHBP1 APOC2

More info about this panel

APOLIPOPROTEIN C2 DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the APOC2 gene.

More info about this panel

MAJOR HYPERTRIGLYCERIDEMIA Panel

Spain.

By Laboratorio de Genetica Clinica SL MAJOR HYPERTRIGLYCERIDEMIA that also includes the following genes: LMF1 APOA5 LIPI GPIHBP1 APOC2

More info about this panel

MAJOR HYPERTRIGLYCERIDEMIA SANGER PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL MAJOR HYPERTRIGLYCERIDEMIA SANGER PANEL that also includes the following genes: LMF1 APOA5 LIPI GPIHBP1 APOC2

More info about this panel

Major Hypertriglyceridemia, Sequencing APOC2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the APOC2 gene.

More info about this panel

Major Hypertriglyceridemia, Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Major Hypertriglyceridemia, Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: LMF1 APOA5 LIPI GPIHBP1 APOC2 APOE

More info about this panel


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