Hyperlipoproteinemia, Type V

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 .

Clinical Features

Phenotypes and symptoms related to Hyperlipoproteinemia, Type V

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

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Hyperlipoproteinemia, Type V Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CREB3L3.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CREB3L3
Specificity
100 %
Genes
34 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, TTR, GAA, COL3A1, ELN, EYA4, JAG1, DSP, SLC25A4, CRYAB, HADHA, RAF1, FBN1, GCKR, DNAJC19, SCO2, TAZ, COX15, CBS, ALMS1 , (...)

View the complete list with 144 more genes
Specificity
2 %
Genes
100 %
MAJOR HYPERTRIGLYCERIDEMIA.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

APOA5, LPL, LMF1, APOC2, GPIHBP1, CREB3L3, LIPI
Specificity
43 %
Genes
100 %
CREB3L3.

By Fulgent Genetics Fulgent Genetics in United States.

CREB3L3
Specificity
100 %
Genes
34 %
Cholestasis Panel.

By Blueprint Genetics in Finland.

EPCAM, ABCB11, ABCB4, ATP8B1, TRMU, JAG1, NPHP3, NPHP1, NPHP4, SLC25A13, SMPD1, DGUOK, FAH, MKS1, CFTR, NPC1, NPC2, PEX2, SERPINA1, UGT1A1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
34 %
Hyperlipidemia Panel.

By Blueprint Genetics in Finland.

ALMS1, LDLR, LIPA, APOE, ABCG5, ABCG8, APOA1, PCSK9, LDLRAP1, APOB, APOA5, LPL, LMF1, APOC2, GPIHBP1, ABCA1, APOC3, CREB3L3
Specificity
17 %
Genes
100 %
Hypertriglyceridemias Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

APOA5, LPL, LMF1, APOC2, GPIHBP1
Specificity
40 %
Genes
67 %
APOA5.

By Institute for Human Genetics University Clinic Freiburg in Germany.

APOA5
Specificity
100 %
Genes
34 %
Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

CYP27A1, LDLR, LIPA, MTTP, APOE, ABCG5, ABCG8, CETP, SCARB1, APOA1, PCSK9, LDLRAP1, APOB, APOA5, LPL, LMF1, APOC2, GPIHBP1, ANGPTL3, LCAT , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
67 %
APOA5. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

APOA5
Specificity
100 %
Genes
34 %
Hyperlipoproteinemia type 4 (sequence analysis of APOA5 gene).

By CGC Genetics in Portugal.

APOA5
Specificity
100 %
Genes
34 %
Obesity genetic testing.

By CGC Genetics in Portugal.

MC4R, GNB3, APOA5, ADRB2, INSIG2, FTO
Specificity
17 %
Genes
34 %
HYPERLIPOPROTEINEMIA, TYPE V.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

APOA5
Specificity
100 %
Genes
34 %
Hypertriglyceridemia.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

APOA5
Specificity
100 %
Genes
34 %
Chylomicronemia.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

APOE, APOA5, LPL, APOC2, GPIHBP1
Specificity
40 %
Genes
67 %
Type 3 hyperlipoproteinemia.

By Unit for Cardiac and Cardiavasular Genetics Oslo University Hospital HF - Ullevaal in Norway.

APOA5, LPL, LMF1, APOC2, GPIHBP1
Specificity
40 %
Genes
67 %
Single gene testing APOA5.

By CeGaT GmbH in Germany.

APOA5
Specificity
100 %
Genes
34 %
Hyperlipoproteinemia, type 5.

By Asper Biogene Asper Biogene LLC in Estonia.

APOA5
Specificity
100 %
Genes
34 %
Hypertriglyceridemia.

By Asper Biogene Asper Biogene LLC in Estonia.

GPD1, APOA5, LPL, LMF1, APOC2, GPIHBP1
Specificity
34 %
Genes
67 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
34 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
67 %
Dyslipidemias / Early atherosclerosis.

By Health in Code in Spain.

HNF1A, NEUROD1, PPARG, HNF1B, CPT2, WFS1, PCDH15, GCK, GPD1, CAVIN1, PNPLA2, MEF2A, COQ2, PYGM, LDLR, LEP, LIPA, MTTP, LMNA, APOE , (...)

View the complete list with 64 more genes
Specificity
3 %
Genes
67 %
Primary familial hypertriglyceridemias.

By Health in Code in Spain.

PCDH15, GPD1, PNPLA2, APOE, APOA5, LPL, LMF1, APOC2, GPIHBP1, APOC3, SLC25A40, TRIB1
Specificity
17 %
Genes
67 %
Hypertriglyceridaemia genetic screen.

By Cardiovascular Genetics Laboratory PathWest Laboratory Medicine WA in Australia.

APOE, APOA5, LPL, LMF1, APOC2, GPIHBP1
Specificity
34 %
Genes
67 %
Major Hypertriglyceridemia: sequencing of APOA5 gene.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

APOA5
Specificity
100 %
Genes
34 %
APOA5.

By Fulgent Genetics Fulgent Genetics in United States.

APOA5
Specificity
100 %
Genes
34 %
Pancreatitis Panel.

By Blueprint Genetics in Finland.

CFTR, SPINK1, PRSS1, CTRC, APOA5, APOC2, GPIHBP1, CPA1, UBR1
Specificity
12 %
Genes
34 %
Familial hypertriglyceridemia.

By Bioarray in Spain.

APOA5
Specificity
100 %
Genes
34 %
Hypertriglyceridemia.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

APOA5, LPL, LMF1, APOC2, GPIHBP1
Specificity
40 %
Genes
67 %
HYPERLIPOPROTEINEMIA TYPE 5.

By Laboratorio de Genetica Clinica SL in Spain.

APOA5
Specificity
100 %
Genes
34 %
MAJOR HYPERTRIGLYCERIDEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

APOA5, LPL, LMF1, APOC2, GPIHBP1, LIPI
Specificity
34 %
Genes
67 %
Major Hypertriglyceridemia, Sequencing APOA5 Gene.

By Reference Laboratory Genetics in Spain.

APOA5
Specificity
100 %
Genes
34 %
Major Hypertriglyceridemia, Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

APOE, APOA5, LPL, LMF1, APOC2, GPIHBP1, LIPI
Specificity
29 %
Genes
67 %
LPL Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

LPL
Specificity
100 %
Genes
34 %
LPL.

By Institute for Human Genetics University Clinic Freiburg in Germany.

LPL
Specificity
100 %
Genes
34 %
LPL. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

LPL
Specificity
100 %
Genes
34 %
LPL. Detection of the mutation p.Gly188Glu by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

LPL
Specificity
100 %
Genes
34 %
LPL. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

LPL
Specificity
100 %
Genes
34 %
Lipoprotein Lipase De¬ciency (LPL): mutations Pro207Leu (p.Pro234Leu) and Gly188Glu (p.Gly215Glu).

By Molecular Diagnostics Laboratory Hospital Sainte-Justine in Canada.

LPL
Specificity
100 %
Genes
34 %
Lipase deficiency (sequence analysis of LPL gene).

By CGC Genetics in Portugal.

LPL
Specificity
100 %
Genes
34 %
Lipase deficiency (deletion/duplication analysis of LPL gene).

By CGC Genetics in Portugal.

LPL
Specificity
100 %
Genes
34 %
Hyperlipoproteinemia, type I.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

LPL
Specificity
100 %
Genes
34 %
Combined hyperlipidemia, familial.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

LPL
Specificity
100 %
Genes
34 %
Familial Lipoprotein Lipase Deficiency via LPL Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LPL
Specificity
100 %
Genes
34 %
Hyperlipoproteinemia type I.

By Centogene AG - the Rare Disease Company in Germany.

LPL
Specificity
100 %
Genes
34 %
Familial Lipoprotein Lipase Deficiency.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

LPL
Specificity
100 %
Genes
34 %
Familial Lipoprotein Lipase Deficiency.

By Asper Biogene Asper Biogene LLC in Estonia.

LPL
Specificity
100 %
Genes
34 %
LPL.

By Division Human Genetics Medical University Innsbruck in Austria.

LPL
Specificity
100 %
Genes
34 %
Lipoprotein lipase deficiency: LPL gene mutation analysis (G188E).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LPL
Specificity
100 %
Genes
34 %
Lipoprotein lipase deficiency: LPL gene regulatory region sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LPL
Specificity
100 %
Genes
34 %
Lipoprotein lipase deficiency: LPL gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LPL
Specificity
100 %
Genes
34 %
Major Hypertriglyceridemia: sequencing of LPL gene.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LPL
Specificity
100 %
Genes
34 %
LPL.

By Fulgent Genetics Fulgent Genetics in United States.

LPL
Specificity
100 %
Genes
34 %
Familial lipoprotein lipase deficiency.

By Bioarray in Spain.

LPL
Specificity
100 %
Genes
34 %
Familial lipoprotein lipase deficiency.

By Bioarray in Spain.

LPL
Specificity
100 %
Genes
34 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
34 %
HYPERLIPOPROTEINEMIA TYPE 1.

By Laboratorio de Genetica Clinica SL in Spain.

LPL, LMF1, APOC2, GPIHBP1
Specificity
25 %
Genes
34 %
Major Hypertriglyceridemia, Sequencing LPL Gene.

By Reference Laboratory Genetics in Spain.

LPL
Specificity
100 %
Genes
34 %
Lipoprotein Lipase Deficiency , Sequencing Regulatory Area LPL Gene.

By Reference Laboratory Genetics in Spain.

LPL
Specificity
100 %
Genes
34 %
Major Hypertriglyceridemia, Deletions-Duplications (MLPA) LPL Gene.

By Reference Laboratory Genetics in Spain.

LPL
Specificity
100 %
Genes
34 %

Alternate names

Hyperlipoproteinemia, Type V Is also known as hyperlipidemia, type v, hyperchylomicronemia, late-onset, hyperchylomicronemia with hyperprebetalipoproteinemia, familial, hyperlipemia, mixed, hyperlipemia, combined fat and carbohydrate-induced;hlp type 5; major hyperlipidemia.



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