Hyperlipoproteinemia, Type Iii

Description

Hyperlipoproteinemia type III, also called dysbetalipoproteinemia, is characterized by hyperlipidemia due to accumulation of remnants of the triglyceride (TG)-rich lipoproteins (TGRL), very low density lipoporteins (VLDL), and chylomicrons (CM), in response to dysfunctional genetic variants of apolipolipoprotein E or absence of apoE (summary by Blum, 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperlipoproteinemia, Type Iii

  • Pica
  • Milia
  • Hepatomegaly
  • Obesity
  • Erythema
  • Acidosis
  • Diabetes mellitus
  • Hypothyroidism
  • Hepatic steatosis
  • Abnormality of the skin
And another 29 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Hyperlipoproteinemia, Type Iii have a estimated prevalence of 10 per 100k in Europe.


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Hyperlipoproteinemia, Type Iii Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ADmark® ApoE Genotype Analysis and Interpretation (Symptomatic).

By Athena Diagnostics Inc in United States.

APOE
Specificity
100 %
Genes
100 %
Dementia.

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

APP, PSEN1, OPTN, VCP, GRN, FIG4, PSEN2, MAPT, APOE, C9orf72, ALS2, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, CSF1R, TREM2, PRNP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Apolipoprotein E (APOE) Genotype.

By Molecular Diagnostics Laboratory Duke University Health System in United States.

APOE
Specificity
100 %
Genes
100 %
APOE.

By Institute for Human Genetics University Clinic Freiburg in Germany.

APOE
Specificity
100 %
Genes
100 %
Alzheimer Disease Risk Factor (APOE).

By GENE Núcleo de Genética Médica de Minas Gerais in Brazil.

APOE
Specificity
100 %
Genes
100 %
Cardiovascular Disease Risk Factor (Apolipoprotein E).

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

APOE
Specificity
100 %
Genes
100 %
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
4 %
Genes
100 %
APOE. Genotyping of the alleles E2, E3 and E4.

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

APOE
Specificity
100 %
Genes
100 %
APOE, APP, PSEN1, PSEN2. NextGeneDx.Complete sequencing by NGS.

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

APP, PSEN1, PSEN2, APOE
Specificity
25 %
Genes
100 %
Alzheimer disease type 2 (APOE gene, alleles E2, E3 and E4).

By CGC Genetics in Portugal.

APOE
Specificity
100 %
Genes
100 %
Thrombophilia (APOE genotyping).

By CGC Genetics in Portugal.

APOE
Specificity
100 %
Genes
100 %
Apolipoprotein E deficiency (sequence analysis of APOE gene).

By CGC Genetics in Portugal.

APOE
Specificity
100 %
Genes
100 %
Alzheimer disease type 2 (APOE gene, alleles E2, E3 and E4).

By CGC Genetics in Portugal.

APOE
Specificity
100 %
Genes
100 %
Alzheimer disease (NGS panel for 8 genes).

By CGC Genetics in Portugal.

APP, PSEN1, SNCB, PSEN2, APOE, SNCA, PRNP, SORL1
Specificity
13 %
Genes
100 %
Hereditary dementias (NGS panel for 28 genes).

By CGC Genetics in Portugal.

TYROBP, APP, PSEN1, VCP, GRN, TIMM8A, SNCB, PSEN2, MAPT, APOE, NOTCH3, SNCA, FUS, CHMP2B, TARDBP, UBQLN2, ATP13A2, DNMT1, CSF1R, TREM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Alzheimer Disease Risk Factor (APOE Genotype).

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

APOE
Specificity
100 %
Genes
100 %
Alzheimer disease.

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

APOE
Specificity
100 %
Genes
100 %
Lipoprotein glomerulopathy.

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

APOE
Specificity
100 %
Genes
100 %
Apolipoprotein E (APOE) Genotype.

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

APOE
Specificity
100 %
Genes
100 %
Chylomicronemia.

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

APOE, APOA5, LPL, APOC2, GPIHBP1
Specificity
20 %
Genes
100 %
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
1 %
Genes
100 %
Alzheimer Disease Risk Factor (APOE Genotype).

By MGZ Medical Genetics Center in Germany.

APOE
Specificity
100 %
Genes
100 %
Cardiovascular Disease Risk Factor (Apolipoprotein E).

By MGZ Medical Genetics Center in Germany.

APOE
Specificity
100 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Cardiovascular Disease Risk Factor (Apolipoprotein E).

By Bioscientia GmbH Center for Human Genetics in Germany.

APOE
Specificity
100 %
Genes
100 %
Cardiovascular Disease Risk Factor (Apolipoprotein E).

By DNA Diagnostics Laboratory University Hospital Ostrava in Czech Republic.

APOE
Specificity
100 %
Genes
100 %
Apolipoprotein E deficiency.

By Centogene AG - the Rare Disease Company in Germany.

APOE
Specificity
100 %
Genes
100 %
Alzheimer dementia and dementia panel.

By Centogene AG - the Rare Disease Company in Germany.

APP, PSEN1, PSEN2, APOE, TREM2, PRNP, SORL1
Specificity
15 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Lipoprotein glomerulopathy.

By Centogene AG - the Rare Disease Company in Germany.

APOE
Specificity
100 %
Genes
100 %
Alzheimer's disease Panel.

By CeGaT GmbH in Germany.

APP, PSEN1, PSEN2, APOE, TBP, NLGN1, VPS35, ABCA7, TOMM40, MARK4, CD33
Specificity
10 %
Genes
100 %
Dementia all Panel.

By CeGaT GmbH in Germany.

APP, PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, APOE, C9orf72, NOTCH3, ATXN2, TBP, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Single gene testing APOE.

By CeGaT GmbH in Germany.

APOE
Specificity
100 %
Genes
100 %
Alzheimer Disease Risk Factor (APOE Genotype).

By GGA - Galil Genetic Analysis in Israel.

APOE
Specificity
100 %
Genes
100 %
Cardiovascular Disease Risk Factor (Apolipoprotein E).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

APOE
Specificity
100 %
Genes
100 %
Hyperlipoproteinemia, type 3.

By Asper Biogene Asper Biogene LLC in Estonia.

APOE
Specificity
100 %
Genes
100 %
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
100 %
Familial hypercholesterolemia Basic Panel.

By Health in Code in Spain.

LDLR, APOE, PCSK9, LDLRAP1, APOB, SLCO1B1
Specificity
17 %
Genes
100 %
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
2 %
Genes
100 %
Primary familial hypertriglyceridemias.

By Health in Code in Spain.

PCDH15, GPD1, PNPLA2, APOE, APOA5, LPL, LMF1, APOC2, GPIHBP1, APOC3, SLC25A40, TRIB1
Specificity
9 %
Genes
100 %
Familial hypercholesterolemia Extended Panel.

By Health in Code in Spain.

CPT2, COQ2, PYGM, LDLR, LIPA, APOE, RYR1, ABCB1, AMPD1, ABCG5, ABCG8, CYP2D6, NPC1L1, PCSK9, LDLRAP1, APOB, SLCO1B1, CYP3A4, CYP3A5, SLC22A8 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Familial Hypercholesterolaemia Genetic Screen.

By Cardiovascular Genetics Laboratory PathWest Laboratory Medicine WA in Australia.

LDLR, LIPA, APOE, ABCG5, ABCG8, PCSK9, LDLRAP1, APOB, STAP1
Specificity
12 %
Genes
100 %
Hypertriglyceridaemia genetic screen.

By Cardiovascular Genetics Laboratory PathWest Laboratory Medicine WA in Australia.

APOE, APOA5, LPL, LMF1, APOC2, GPIHBP1
Specificity
17 %
Genes
100 %
Test for Alzheimer Disease Risk Factor (APOE Genotype).

By Secugen SL in Spain.

APOE
Specificity
100 %
Genes
100 %
Apolipoprotein E deficiency.

By Praxis fuer Humangenetik Wien in Austria.

APOE
Specificity
100 %
Genes
100 %
Apolipoprotein E Genotyping.

By Molecular Diagnosis Centre National University Hospital in Singapore.

APOE
Specificity
100 %
Genes
100 %
Apolipoprotein E deficiency.

By MedGene in Slovakia.

APOE
Specificity
100 %
Genes
100 %
Alzheimer: Apo-E, PSEN1, PSEN2, A2M and APP genes sequence analysis (select exons).

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

APP, PSEN1, PSEN2, APOE, A2M
Specificity
20 %
Genes
100 %
Alzheimer: Apo-E, PSEN1, PSEN2, APP, A2M and MAPT genes sequence analysis (select exons).

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

APP, PSEN1, PSEN2, MAPT, APOE, A2M
Specificity
17 %
Genes
100 %
APOE: ApoE gene genotyping.

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

APOE
Specificity
100 %
Genes
100 %
Cardiac Medication Metabolism.

By Molecular Diagnostics and Toxicology Laboratory in United States.

F2, F5, MTHFR, APOE, CYP2C19, CYP2D6, CYP2C9
Specificity
15 %
Genes
100 %
Comprehensive Medication Metabolism.

By Molecular Diagnostics and Toxicology Laboratory in United States.

F2, F5, MTHFR, APOE, CYP2C19, CYP2D6, CYP2C9
Specificity
15 %
Genes
100 %
Expanded Comprehensive Medication Metabolism.

By Molecular Diagnostics and Toxicology Laboratory in United States.

F2, F5, MTHFR, APOE, CYP2C19, CYP2D6, CYP2C9
Specificity
15 %
Genes
100 %
Parkinson-Alzheimer-Dementia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TYROBP, APP, PSEN1, POLG, HTRA2, GRN, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, PSEN2, MAPT, APOE, GCH1, LRRK2, SNCA, DCTN1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
APOE.

By Fulgent Genetics Fulgent Genetics in United States.

APOE
Specificity
100 %
Genes
100 %
APOE genotype.

By IBC Instituto de Bioquimica Clinica SRL IBC Instituto de Bioquimica Clinica SRL in Argentina.

APOE
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Dementia Panel.

By Blueprint Genetics in Finland.

UBE3A, APP, PSEN1, VCP, GRN, PSEN2, MAPT, APOE, SNCA, SIGMAR1, FUS, CHMP2B, TARDBP, UBQLN2, CSF1R, TREM2, PRNP, SORL1, RNF216, TUBA4A , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
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
6 %
Genes
100 %
Genetic Study of Familial Hypercholesterolemia.

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

LDLR, APOE, PCSK9, LDLRAP1, APOB, STAP1
Specificity
17 %
Genes
100 %
Early-onset autosomal dominant Alzheimer disease.

By Bioarray in Spain.

APOE
Specificity
100 %
Genes
100 %
APOE.

By Genomic Engenharia Molecular in Brazil.

APOE
Specificity
100 %
Genes
100 %
HYPERLIPOPROTEINEMIA TYPE 3.

By Laboratorio de Genetica Clinica SL in Spain.

APOE
Specificity
100 %
Genes
100 %
DEMENTIA & ALZHEIMER: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

APP, PSEN1, VCP, GRN, PSEN2, MAPT, APOE, FUS, CHMP2B, TARDBP, CSF1R, TREM2, PRNP, ITM2B
Specificity
8 %
Genes
100 %
APOE genotyping.

By Alpha Genomix Laboratories in United States.

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

By Reference Laboratory Genetics in Spain.

APOE, APOA5, LPL, LMF1, APOC2, GPIHBP1, LIPI
Specificity
15 %
Genes
100 %
Alzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

APP, PSEN1, GRN, PSEN2, MAPT, APOE, C9orf72, A2M
Specificity
13 %
Genes
100 %
Familial Alzheimer Disease.

By Labor Dr. Wisplinghoff in Germany.

APP, PSEN1, APOE
Specificity
34 %
Genes
100 %
Apolipoprotein E Genotype.

By True Health Diagnostics in United States.

APOE
Specificity
100 %
Genes
100 %

Alternate names

Hyperlipoproteinemia, Type Iii Is also known as apolipoprotein e, deficiency or defect of, dysbetalipoproteinemia due to defect in apolipoprotein e-d, familial hyperbeta- and prebetalipoproteinemia, familial hypercholesterolemia with hyperlipemia, hyperlipemia with familial hypercholesterolemic xanthomatosis, broad-betalipoproteinemia, floating-betalipoproteinemia;broad-betalipoproteinemia; dyslipidemia type 3; familial dysbetalipoproteinemia; familial hyperlipoproteinemia type 3; hlp type 3; hyperlipidemia type 3; remnant disease.



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