PSEN2 gene related symptoms and diseases

All the information presented here about the PSEN2 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 PSEN2 gene

Symptoms // Phenotype % Cases
Dementia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Parkinsonism Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Dilated cardiomyopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PSEN2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Syncope
  • Neurofibrillary tangles
  • Alzheimer disease
  • Hallucinations
  • Cardiomyopathy
  • Cerebral cortical atrophy
  • Myoclonus
  • Rarely - Less than 30% cases

  • Ventricular arrhythmia

And 69 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PSEN2 gene

Here you will find a list of rare diseases related to the PSEN2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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

SOURCES: MESH OMIM

CARDIOMYOPATHY, DILATED, 1V; CMD1V


Most common symptoms of CARDIOMYOPATHY, DILATED, 1V; CMD1V

  • Cardiomyopathy
  • Congestive heart failure
  • Dementia
  • Dilated cardiomyopathy
  • Syncope


More info about CARDIOMYOPATHY, DILATED, 1V; CMD1V

SOURCES: OMIM MESH

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY


Alternate names

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated, cardiomyopathy, familial dilated, 1, cmpd1, familial or idiopathic dilated cardiomyopathy, fdc

Description

Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.

Most common symptoms of FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

  • Sensorineural hearing impairment
  • Feeding difficulties
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

SOURCES: OMIM ORPHANET

EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE


Alternate names

EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE Is also known as early-onset familial autosomal dominant alzheimer disease, eofad, familial alzheimer disease

Description

Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.

Most common symptoms of EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE

  • Intellectual disability
  • Seizures
  • Ataxia
  • Hypertonia
  • Dementia


More info about EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE

SOURCES: ORPHANET


Potential gene panels for PSEN2 gene

ADmark® PSEN2 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the PSEN2 gene.

More info about this panel

ADmark® Early Onset Alzheimer's Evaluation Panel

United States.

By Athena Diagnostics Inc ADmark® Early Onset Alzheimer's Evaluation that also includes the following genes: APP PSEN1 PSEN2

More info about this panel

Dementia Panel

United States.

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 panel

APOE, APP, PSEN1, PSEN2. NextGeneDx.Complete sequencing by NGS Panel

Spain.

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 panel

PSEN2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PSEN2 gene.

More info about this panel

ACTC1, DES, LDB3, MYH6, PSEN1, PSEN2, TCAP, TNNC1, TPM1, VCL. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica ACTC1, DES, LDB3, MYH6, PSEN1, PSEN2, TCAP, TNNC1, TPM1, VCL. NextGeneDx.Complete sequencing by NGS that also includes the following genes: TCAP TNNC1 TPM1 VCL ACTC1 LDB3 DES MYH6 PSEN1 PSEN2

More info about this panel

Alzheimer disease type 4 (sequence analysis of PSEN2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PSEN2 gene.

More info about this panel

Alzheimer disease types 1, 3 and 4 (sequence analysis of APP, PSEN1 and PSEN2 genes) Panel

Portugal.

By CGC Genetics Alzheimer disease types 1, 3 and 4 (sequence analysis of APP, PSEN1 and PSEN2 genes) that also includes the following genes: APP PSEN1 PSEN2

More info about this panel

Alzheimer disease (NGS panel for 8 genes) Panel

Portugal.

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 panel

Hereditary dementias (NGS panel for 28 genes) Panel

Portugal.

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 panel

Alzheimer disease type 1, 3 e 4 (deletions/duplications analysis of APP, PSEN1 and PSEN2 genes) Panel

Portugal.

By CGC Genetics Alzheimer disease type 1, 3 e 4 (deletions/duplications analysis of APP, PSEN1 and PSEN2 genes) that also includes the following genes: APP PSEN1 PSEN2

More info about this panel

Alzheimer disease type 1, 3 e 4 (deletions/duplications analysis of APP, PSEN1 and PSEN2 genes) Panel

Portugal.

By CGC Genetics Alzheimer disease type 1, 3 e 4 (deletions/duplications analysis of APP, PSEN1 and PSEN2 genes) that also includes the following genes: APP PSEN1 PSEN2

More info about this panel

Alzheimer's Disease, Familial via PSEN2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PSEN2 gene.

More info about this panel

Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection that also includes the following genes: SOD1 SQSTM1 TARDBP TBK1 UBQLN2 VAPB VCP OPTN CDH13 TREM2

More info about this panel

Alzheimer Disease, Familial, Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Alzheimer Disease, Familial, Sequencing Panel with CNV Detection that also includes the following genes: APP PSEN1 PSEN2

More info about this panel

Dementia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Dementia Sequencing Panel with CNV Detection that also includes the following genes: SQSTM1 TARDBP TYROBP UBQLN2 TREM2 CHMP2B C9orf72 FUS GRN APP

More info about this panel

Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK

More info about this panel

Alzheimer Disease Type 4 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the PSEN2 gene.

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

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 panel

Alzheimer´s disease Panel

Czech Republic.

By DNA Diagnostics Laboratory University Hospital Ostrava Alzheimer´s disease that also includes the following genes: APP PSEN1 PSEN2

More info about this panel

Alzheimer disease type 4 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PSEN2 gene.

More info about this panel

Alzheimer dementia and dementia panel Panel

Germany.

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 panel

AllNeuro panel Panel

Germany.

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 panel

Cardiomyopathy, dilated type 1V Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PSEN2 gene.

More info about this panel

Frontotemporal Dementia (FTD) Panel Panel

Germany.

By CeGaT GmbH Frontotemporal Dementia (FTD) Panel that also includes the following genes: ATXN2 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VCP CHCHD10 OPTN TREM2

More info about this panel

Alzheimer's disease Panel Panel

Germany.

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 panel

Dementia all Panel Panel

Germany.

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 panel

Single gene testing PSEN2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the PSEN2 gene.

More info about this panel

Alzheimer disease Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Alzheimer disease that also includes the following genes: SORL1 TREM2 GRN APP PSEN1 PSEN2

More info about this panel

Alzheimer Disease Type 4 (PSEN2) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the PSEN2 gene.

More info about this panel

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

Dilated Cardiomyopathy Panel Panel

Spain.

By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF TAZ TBX20 TCAP

More info about this panel

Cardiomyopathies Panel Panel

Spain.

By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1

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

Arrhythmia General Panel Panel

Spain.

By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2

More info about this panel

Cardiomyopathies General Panel Panel

Spain.

By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD

More info about this panel

Alzheimer Disease Type 4 Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the PSEN2 gene.

More info about this panel

Test for Alzheimer Disease Type 4 Panel

Spain.

By Secugen SL

This panel specifically test the PSEN2 gene.

More info about this panel

Alzheimer Disease Type 4, Alzheimer Disease, Early-Onset Familia Panel

Germany.

By ATG-GenMed ATG-GenMed

This panel specifically test the PSEN2 gene.

More info about this panel

Invitae Hereditary Alzheimer's Disease Panel Panel

United States.

By Invitae Invitae Hereditary Alzheimer's Disease Panel that also includes the following genes: APP PSEN1 PSEN2

More info about this panel

Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel Panel

United States.

By Invitae Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SNCA SOD1 SPG11 TARDBP TBK1 TFG UBQLN2 VAPB VCP CHCHD10

More info about this panel

Alzheimer (Presenilin 1 and 2): PSEN1 and PSEN2 genes sequence analysis (select exons) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Alzheimer (Presenilin 1 and 2): PSEN1 and PSEN2 genes sequence analysis (select exons) that also includes the following genes: PSEN1 PSEN2

More info about this panel

Alzheimer (Presenilin 2): PSEN2 gene sequence analysis (exons 5-6, 8) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PSEN2 gene.

More info about this panel

Alzheimer: Apo-E, PSEN1, PSEN2, A2M and APP genes sequence analysis (select exons) Panel

Spain.

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 panel

Alzheimer: Apo-E, PSEN1, PSEN2, APP, A2M and MAPT genes sequence analysis (select exons) Panel

Spain.

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 panel

Alzheimer (Presenilin 2): PSEN2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PSEN2 gene.

More info about this panel

CARDIOMYOPATHY, DILATED (DCM Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CARDIOMYOPATHY, DILATED (DCM that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN

More info about this panel

PSEN2 - Gene sequencing Panel

Netherlands.

By Genome Diagnostics VU University Medical Center

This panel specifically test the PSEN2 gene.

More info about this panel

NGS panel - dementia Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - dementia that also includes the following genes: SNCA SNCB SOD1 SORL1 SQSTM1 TARDBP TYROBP UBAP1 UBQLN2 VAPB

More info about this panel

Pan-Cardio NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Pan-Cardio NGS Panel that also includes the following genes: MRPL3 RYR2 SCN1B SCN4B SCN5A SDHA SGCD SNTA1 TAZ TBX1

More info about this panel

Parkinson-Alzheimer-Dementia NGS Panel Panel

United States.

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 panel

Sudden Death Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Sudden Death Syndrome NGS Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SGCD SLC25A4 SNTA1 TAZ TCAP TGFB3

More info about this panel

Early Onset Familial Alzheimer Disease (EOFAD) NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Early Onset Familial Alzheimer Disease (EOFAD) NGS Panel that also includes the following genes: APP PSEN1 PSEN2

More info about this panel

PSEN2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PSEN2 gene.

More info about this panel

Dementia Panel Panel

Finland.

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 panel

Cardiomyopathy, dilated type 1V Panel

Spain.

By Bioarray

This panel specifically test the PSEN2 gene.

More info about this panel

Early-onset autosomal dominant Alzheimer disease type 4 Panel

Spain.

By Bioarray

This panel specifically test the PSEN2 gene.

More info about this panel

Alzheimer Dementia (PSEN2 gene) Panel

Belgium.

By Diagnostic Service Facility University of Antwerp

This panel specifically test the PSEN2 gene.

More info about this panel

Comprehensive Cardiomyopathy Panel Panel

United States.

By ApolloGen, Inc. Comprehensive Cardiomyopathy Panel that also includes the following genes: SCN5A BMPR2 SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Dilated Cardiomyopathy Panel Panel

United States.

By ApolloGen, Inc. Dilated Cardiomyopathy Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNI3 TNNT2 TPM1 VCL ACTC1

More info about this panel

Cardiomyopathy Exome Panel Panel

United States.

By Northwest Clinical Genomics Laboratory University of Washington Cardiomyopathy Exome Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1

More info about this panel

FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL that also includes the following genes: MRPL3 SCN5A SGCD TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2

More info about this panel

ALZHEIMER DISEASE, EARLY- ONSET FAMILIAL Panel

Spain.

By Laboratorio de Genetica Clinica SL ALZHEIMER DISEASE, EARLY- ONSET FAMILIAL that also includes the following genes: APP PSEN1 PSEN2

More info about this panel

DEMENTIA & ALZHEIMER: NGS PANEL Panel

Spain.

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 panel

FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL that also includes the following genes: SCN5A SGCD TAZ TBX20 TBX5 TCAP TMPO TNNC1 TNNI3 TPM1

More info about this panel

Alzheimer Disease, Sequencing PSEN2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PSEN2 gene.

More info about this panel

Alzheimer Disease, Sequencing Exons (5,6,8) PSEN2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PSEN2 gene.

More info about this panel

Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 30 Genes Panel

Spain.

By Reference Laboratory Genetics Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR

More info about this panel

Alzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

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 panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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