APOA5 gene related symptoms and diseases

All the information presented here about the APOA5 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 APOA5 gene

Symptoms // Phenotype % Cases
Diabetes mellitus Very Common - Between 80% and 100% cases
Decreased HDL cholesterol concentration Very Common - Between 80% and 100% cases
Increased VLDL cholesterol concentration Very Common - Between 80% and 100% cases
Atheroeruptive xanthoma Uncommon - Between 30% and 50% cases
Abnormal glucose tolerance Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with APOA5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Acute pancreatitis
  • Hyperlipoproteinemia
  • Precocious atherosclerosis
  • Hypopituitarism
  • Pancreatitis
  • Shock
  • Hyperlipidemia
  • Hypocalcemia

And 5 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to APOA5 gene

Here you will find a list of rare diseases related to the APOA5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPERLIPOPROTEINEMIA TYPE 5

Alternate names

HYPERLIPOPROTEINEMIA TYPE 5 Is also known as major hyperlipidemia, hyperlipemia, combined fat and carbohydrate-induced, hyperlipidemia, type v, hyperchylomicronemia, late-onset, hyperlipemia, mixed, hlp type 5, hyperchylomicronemia with hyperprebetalipoproteinemia, familial

Description

A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I .

Most common symptoms of HYPERLIPOPROTEINEMIA TYPE 5

  • Diabetes mellitus
  • Decreased HDL cholesterol concentration
  • Decreased LDL cholesterol concentration
  • Increased VLDL cholesterol concentration
  • Increased circulating chylomicron concentration


More info about HYPERLIPOPROTEINEMIA TYPE 5

SOURCES: MESH ORPHANET OMIM

HYPERTRIGLYCERIDEMIA, FAMILIAL

Description

Most individuals with familial hypertriglyceridemia have a hyperlipoproteinemia IV (OMIM ) phenotype. Relatives of affected persons (ascertained in a study of survivors of coronary occlusion) were found to have normal cholesterol distribution and bimodal triglyceride distribution (Goldstein et al., 1973). Hypertriglyceridemia is not completely expressed in affected children. Genetic Heterogeneity of HypertriglyceridemiaHypertriglyceridemia has many causes but, whatever its cause, there is evidence for its role as a coronary heart disease risk factor. Hypertriglyceridemia is commonly found in individuals with type II diabetes mellitus (OMIM ). Several genetic bases for hypertriglyceridemia have been identified. Familial combined hyperlipidemia (HYPLIP1 ) is due to variation in the USF1 gene (OMIM ) on chromosome 1q21-q23. Some mutations in the ABCA1 gene (OMIM ) caused Tangier disease (OMIM ), whereas others caused a mild disorder called type II familial high density lipoprotein deficiency, or hypoalphalipoproteinemia (OMIM ). Both disorders are associated with hypertriglyceridemia.

Most common symptoms of HYPERTRIGLYCERIDEMIA, FAMILIAL

  • Diabetes mellitus
  • Abnormality of the cardiovascular system
  • Hypertriglyceridemia
  • Hypocalcemia
  • Hyperlipidemia


More info about HYPERTRIGLYCERIDEMIA, FAMILIAL

SOURCES: OMIM


Potential gene panels for APOA5 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
United States.

APOA5 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the APOA5 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.

APOA5. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the APOA5 gene.

More info about this panel
Spain.

Hyperlipoproteinemia type 4 (sequence analysis of APOA5 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the APOA5 gene.

More info about this panel
Portugal.

Obesity genetic testing Panel

Portugal.

By CGC Genetics Obesity genetic testing that also includes the following genes: APOA5 INSIG2 FTO GNB3 MC4R

More info about this panel
Portugal.

HYPERLIPOPROTEINEMIA, TYPE V Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the APOA5 gene.

More info about this panel
Germany.

Hypertriglyceridemia Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the APOA5 gene.

More info about this panel
Germany.

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
Germany.

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
Norway.

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
United States.

Single gene testing APOA5 Panel

Germany.

By CeGaT GmbH

This panel specifically test the APOA5 gene.

More info about this panel
Germany.

Hyperlipoproteinemia, type 5 Panel

Estonia.

By Asper Biogene Asper Biogene LLC

This panel specifically test the APOA5 gene.

More info about this panel
Estonia.

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
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.

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.

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
Australia.

Major Hypertriglyceridemia: sequencing of APOA5 gene Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the APOA5 gene.

More info about this panel
Spain.

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
Spain.

APOA5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the APOA5 gene.

More info about this panel
United States.

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
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.

Familial hypertriglyceridemia Panel

Spain.

By Bioarray

This panel specifically test the APOA5 gene.

More info about this panel
Spain.

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
Canada.

HYPERLIPOPROTEINEMIA TYPE 5 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the APOA5 gene.

More info about this panel
Spain.

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
Spain.

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
Spain.

Major Hypertriglyceridemia, Sequencing APOA5 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the APOA5 gene.

More info about this panel
Spain.

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
Spain.

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