APOE gene related symptoms and diseases
All the information presented here about the APOE gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to APOE gene
Symptoms // Phenotype | % Cases |
---|---|
Dementia | Common - Between 50% and 80% cases |
Edema | Common - Between 50% and 80% cases |
Neurofibrillary tangles | Uncommon - Between 30% and 50% cases |
Alzheimer disease | Uncommon - Between 30% and 50% cases |
Stroke | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with APOE gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hypertension
- Thrombocytopenia
- Senile plaques
- Parkinsonism
- Intellectual disability
- Seizures
- Hepatomegaly
Rarely - Less than 30% cases
- Splenomegaly
And 291 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to APOE gene
Here you will find a list of rare diseases related to the APOE. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ALZHEIMER DISEASE; AD
Alternate names
ALZHEIMER DISEASE; AD Is also known as presenile and senile dementia
Description
Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions (Sennvik et al., 2000). Terry and Davies (1980) pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT).Haines (1991) reviewed the genetics of AD. Selkoe (1996) reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. Theuns and Van Broeckhoven (2000) reviewed the transcriptional regulation of the genes involved in Alzheimer disease.
Most common symptoms of ALZHEIMER DISEASE; AD
- Intellectual disability
- Seizures
- Spasticity
- Cognitive impairment
- Edema
More info about ALZHEIMER DISEASE; AD
SOURCES: OMIM
MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
Alternate names
MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 Is also known as maculopathy, age-related, 1
Description
Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007).
Most common symptoms of MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
- Cataract
- Visual impairment
- Hypertension
- Blindness
- Visual loss
More info about MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
ALZHEIMER DISEASE 2; AD2
Alternate names
ALZHEIMER DISEASE 2; AD2 Is also known as alzheimer disease associated with apoe4, alzheimer disease 2, late-onset
Description
A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. [HPO:probinson]
Most common symptoms of ALZHEIMER DISEASE 2; AD2
- Hypertension
- Dementia
- Diabetes mellitus
- Stroke
- Parkinsonism
More info about ALZHEIMER DISEASE 2; AD2
ALZHEIMER DISEASE 4
Alternate names
ALZHEIMER DISEASE 4 Is also known as ad4, alzheimer disease, familial, 4
Description
Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.
Most common symptoms of ALZHEIMER DISEASE 4
- Seizures
- Tremor
- Depressivity
- Dementia
- Myoclonus
More info about ALZHEIMER DISEASE 4
DOWN SYNDROME
Alternate names
DOWN SYNDROME Is also known as trisomy 21
Description
Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.
Most common symptoms of DOWN SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
More info about DOWN SYNDROME
HYPERLIPOPROTEINEMIA TYPE 3
Alternate names
HYPERLIPOPROTEINEMIA TYPE 3 Is also known as dyslipidemia type 3, apolipoprotein e, deficiency or defect of, familial hypercholesterolemia with hyperlipemia, broad-betalipoproteinemia, hlp type 3, hyperlipidemia type 3, familial dysbetalipoproteinemia, familial hyperlipoproteinemia type 3, dysbetalipoprotei
Description
Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.
Most common symptoms of HYPERLIPOPROTEINEMIA TYPE 3
- Hepatomegaly
- Obesity
- Diabetes mellitus
- Hypothyroidism
- Hepatic steatosis
More info about HYPERLIPOPROTEINEMIA TYPE 3
SEA-BLUE HISTIOCYTOSIS
Alternate names
SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis, histiocytosis, sea-blue
Description
A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.
Most common symptoms of SEA-BLUE HISTIOCYTOSIS
- Seizures
- Ataxia
- Peripheral neuropathy
- Hepatomegaly
- Gait disturbance
More info about SEA-BLUE HISTIOCYTOSIS
WILSON DISEASE
Alternate names
WILSON DISEASE Is also known as wd, hepatolenticular degeneration, wnd
Description
Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.
Most common symptoms of WILSON DISEASE
- Intellectual disability
- Growth delay
- Neoplasm
- Failure to thrive
- Spasticity
More info about WILSON DISEASE
LIPOPROTEIN GLOMERULOPATHY
Alternate names
LIPOPROTEIN GLOMERULOPATHY Is also known as lpg
Description
Lipoprotein glomerulopathy is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries (Saito et al., 2006). It mainly affects people of Japanese and Chinese origin; in these populations, it is associated with mutations in the gene that encodes apolipoprotein E (APOE ). The disorder had rarely been described in Caucasians.
Most common symptoms of LIPOPROTEIN GLOMERULOPATHY
- Edema
- Renal insufficiency
- Carcinoma
- Proteinuria
- Abnormality of the kidney
More info about LIPOPROTEIN GLOMERULOPATHY
Search interest in APOE
Potential gene panels for APOE gene
ADmark® ApoE Genotype Analysis and Interpretation (Symptomatic) Panel
By Athena Diagnostics Inc
This panel specifically test the APOE gene.
More info about this panelDementia Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dementia that also includes the following genes: SORL1 TARDBP VCP FIG4 OPTN TREM2 CSF1R CHMP2B DCTN1 C9orf72
More info about this panelApolipoprotein E (APOE) Genotype Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the APOE gene.
More info about this panelAPOE Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the APOE gene.
More info about this panelAlzheimer Disease Risk Factor (APOE) Panel
By GENE Núcleo de Genética Médica de Minas Gerais
This panel specifically test the APOE gene.
More info about this panelCardiovascular Disease Risk Factor (Apolipoprotein E) Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the APOE gene.
More info about this panelDyslipidemia NGS panel (29 genes), Sequence & CNV analysis Panel
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 panelAPOE. Genotyping of the alleles E2, E3 and E4 Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the APOE gene.
More info about this panelAPOE, APP, PSEN1, PSEN2. NextGeneDx.Complete sequencing by NGS Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica APOE, APP, PSEN1, PSEN2. NextGeneDx.Complete sequencing by NGS that also includes the following genes: APOE APP PSEN1 PSEN2
More info about this panelAlzheimer disease type 2 (APOE gene, alleles E2, E3 and E4) Panel
By CGC Genetics
This panel specifically test the APOE gene.
More info about this panelThrombophilia (APOE genotyping) Panel
By CGC Genetics
This panel specifically test the APOE gene.
More info about this panelApolipoprotein E deficiency (sequence analysis of APOE gene) Panel
By CGC Genetics
This panel specifically test the APOE gene.
More info about this panelAlzheimer disease type 2 (APOE gene, alleles E2, E3 and E4) Panel
By CGC Genetics
This panel specifically test the APOE gene.
More info about this panelAlzheimer disease (NGS panel for 8 genes) Panel
By CGC Genetics Alzheimer disease (NGS panel for 8 genes) that also includes the following genes: SNCA SNCB SORL1 APOE APP PRNP PSEN1 PSEN2
More info about this panelHereditary dementias (NGS panel for 28 genes) Panel
By CGC Genetics Hereditary dementias (NGS panel for 28 genes) that also includes the following genes: SNCA SNCB SORL1 TARDBP TIMM8A TUBA4A TYROBP UBQLN2 VCP CHCHD10
More info about this panelAlzheimer Disease Risk Factor (APOE Genotype) Panel
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the APOE gene.
More info about this panelAlzheimer disease Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the APOE gene.
More info about this panelLipoprotein glomerulopathy Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the APOE gene.
More info about this panelApolipoprotein E (APOE) Genotype Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the APOE gene.
More info about this panelChylomicronemia Panel
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 panelComprehensive Cardiology Sequencing Panel with CNV Detection Panel
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 panelAlzheimer Disease Risk Factor (APOE Genotype) Panel
By MGZ Medical Genetics Center
This panel specifically test the APOE gene.
More info about this panelCardiovascular Disease Risk Factor (Apolipoprotein E) Panel
By MGZ Medical Genetics Center
This panel specifically test the APOE gene.
More info about this panelNeurogenetic Disorders - panels Panel
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panelCardiovascular Disease Risk Factor (Apolipoprotein E) Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the APOE gene.
More info about this panelCardiovascular Disease Risk Factor (Apolipoprotein E) Panel
By DNA Diagnostics Laboratory University Hospital Ostrava
This panel specifically test the APOE gene.
More info about this panelApolipoprotein E deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the APOE gene.
More info about this panelAlzheimer dementia and dementia panel Panel
By Centogene AG - the Rare Disease Company Alzheimer dementia and dementia panel that also includes the following genes: SORL1 TREM2 APOE APP PRNP PSEN1 PSEN2
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelLipoprotein glomerulopathy Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the APOE gene.
More info about this panelAlzheimer's disease Panel Panel
By CeGaT GmbH Alzheimer's disease Panel that also includes the following genes: TBP VPS35 MARK4 NLGN1 CD33 TOMM40 ABCA7 APOE APP PSEN1
More info about this panelDementia all Panel Panel
By CeGaT GmbH Dementia all Panel that also includes the following genes: ATXN2 SQSTM1 TARDBP TBK1 TBP TUBA4A UBQLN2 VCP VPS35 MARK4
More info about this panelSingle gene testing APOE Panel
By CeGaT GmbH
This panel specifically test the APOE gene.
More info about this panelAlzheimer Disease Risk Factor (APOE Genotype) Panel
By GGA - Galil Genetic Analysis
This panel specifically test the APOE gene.
More info about this panelCardiovascular Disease Risk Factor (Apolipoprotein E) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the APOE gene.
More info about this panelHyperlipoproteinemia, type 3 Panel
By Asper Biogene Asper Biogene LLC
This panel specifically test the APOE gene.
More info about this panelCardiovascular Diseases_General Panel Panel
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 panelFamilialhypercholesterolemia Basic Panel Panel
By Health in Code Familialhypercholesterolemia Basic Panel that also includes the following genes: SLCO1B1 LDLRAP1 PCSK9 APOE LDLR
More info about this panelDyslipidemias / Early atherosclerosis Panel
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 panelPrimary familial hypertriglyceridemias Panel
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 panelFamilialhypercholesterolemia Extended Panel Panel
By Health in Code Familialhypercholesterolemia Extended Panel that also includes the following genes: RYR1 SLCO1B1 SLC22A8 ABCG5 ABCG8 LDLRAP1 CH25H PCSK9 CPT2 COQ2
More info about this panelFamilial Hypercholesterolaemia Genetic Screen Panel
By Cardiovascular Genetics Laboratory PathWest Laboratory Medicine WA Familial Hypercholesterolaemia Genetic Screen that also includes the following genes: ABCG5 ABCG8 LDLRAP1 PCSK9 STAP1 APOE LDLR LIPA
More info about this panelHypertriglyceridaemia genetic screen Panel
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 panelTest for Alzheimer Disease Risk Factor (APOE Genotype) Panel
By Secugen SL
This panel specifically test the APOE gene.
More info about this panelApolipoprotein E deficiency Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the APOE gene.
More info about this panelApolipoprotein E Genotyping Panel
By Molecular Diagnosis Centre National University Hospital
This panel specifically test the APOE gene.
More info about this panelApolipoprotein E deficiency Panel
By MedGene
This panel specifically test the APOE gene.
More info about this panelAlzheimer: Apo-E, PSEN1, PSEN2, A2M and APP genes sequence analysis (select exons) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Alzheimer: Apo-E, PSEN1, PSEN2, A2M and APP genes sequence analysis (select exons) that also includes the following genes: APOE APP A2M PSEN1 PSEN2
More info about this panelAlzheimer: Apo-E, PSEN1, PSEN2, APP, A2M and MAPT genes sequence analysis (select exons) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Alzheimer: Apo-E, PSEN1, PSEN2, APP, A2M and MAPT genes sequence analysis (select exons) that also includes the following genes: APOE APP MAPT A2M PSEN1 PSEN2
More info about this panelAPOE: ApoE gene genotyping Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the APOE gene.
More info about this panelCardiac Medication Metabolism Panel
By Molecular Diagnostics and Toxicology Laboratory Cardiac Medication Metabolism that also includes the following genes: CYP2C19 CYP2C9 CYP2D6 F2 F5 APOE MTHFR
More info about this panelComprehensive Medication Metabolism Panel
By Molecular Diagnostics and Toxicology Laboratory Comprehensive Medication Metabolism that also includes the following genes: CYP2C19 CYP2C9 CYP2D6 F2 F5 APOE MTHFR
More info about this panelExpanded Comprehensive Medication Metabolism Panel
By Molecular Diagnostics and Toxicology Laboratory Expanded Comprehensive Medication Metabolism that also includes the following genes: CYP2C19 CYP2C9 CYP2D6 F2 F5 APOE MTHFR
More info about this panelParkinson-Alzheimer-Dementia NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Parkinson-Alzheimer-Dementia NGS Panel that also includes the following genes: SLC6A3 SNCA SNCB TAF1 TH TYROBP UCHL1 VPS35 FBXO7 AAAS
More info about this panelAPOE Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the APOE gene.
More info about this panelAPOE genotype Panel
By IBC Instituto de Bioquimica Clinica SRL IBC Instituto de Bioquimica Clinica SRL
This panel specifically test the APOE gene.
More info about this panelKidneySeq - 264 Genes Panel
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panelDementia Panel Panel
By Blueprint Genetics Dementia Panel that also includes the following genes: SNCA SORL1 TARDBP TUBA4A UBE3A UBQLN2 VCP TREM2 RNF216 CSF1R
More info about this panelHyperlipidemia Panel Panel
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 panelGenetic Study of Familial Hypercholesterolemia Panel
By HeartGenetics, Genetics and Biotechnology, SA Genetic Study of Familial Hypercholesterolemia that also includes the following genes: LDLRAP1 PCSK9 STAP1 APOE LDLR
More info about this panelEarly-onset autosomal dominant Alzheimer disease Panel
By Bioarray
This panel specifically test the APOE gene.
More info about this panelAPOE Panel
By Genomic Engenharia Molecular
This panel specifically test the APOE gene.
More info about this panelHYPERLIPOPROTEINEMIA TYPE 3 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the APOE gene.
More info about this panelDEMENTIA & ALZHEIMER: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL DEMENTIA & ALZHEIMER: NGS PANEL that also includes the following genes: SORL1 TARDBP VCP TREM2 CSF1R CHMP2B FUS GRN APOE ITM2B
More info about this panelAPOE genotyping Panel
By Alpha Genomix Laboratories
This panel specifically test the APOE gene.
More info about this panelMajor Hypertriglyceridemia, Panel Massive Sequencing (NGS) 7 Genes Panel
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 panelAlzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes Panel
By Reference Laboratory Genetics Alzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: C9orf72 GRN APOE APP MAPT A2M PSEN1 PSEN2
More info about this panelFamilial Alzheimer Disease Panel
By Labor Dr. Wisplinghoff Familial Alzheimer Disease that also includes the following genes: APOE APP PSEN1
More info about this panelApolipoprotein E Genotype Panel
By True Health Diagnostics
This panel specifically test the APOE gene.
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