APP gene related symptoms and diseases
All the information presented here about the APP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to APP gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Dementia | Common - Between 50% and 80% cases |
| Stroke | Common - Between 50% and 80% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
| Cerebral hemorrhage | Uncommon - Between 30% and 50% cases |
| Behavioral abnormality | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with APP gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Myoclonus
- Intellectual disability
- Neurofibrillary tangles
- Alzheimer disease
- Memory impairment
- Mental deterioration
Rarely - Less than 30% cases
- Parkinsonism
- Encephalopathy
And 54 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to APP gene
Here you will find a list of rare diseases related to the APP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ABETA AMYLOIDOSIS, DUTCH TYPE
Alternate names
ABETA AMYLOIDOSIS, DUTCH TYPE Is also known as hchwad, amyloidosis, hereditary, with cerebral hemorrhage, dutch variant, hereditary cerebral hemorrhage with amyloidosis, dutch type, cerebral amyloid angiopathy, app-related, iowa variant, cerebral amyloid angiopathy, app-related, italian variant, hchwa, dut
Description
Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.
Most common symptoms of ABETA AMYLOIDOSIS, DUTCH TYPE
- Seizures
- Cognitive impairment
- Hypertension
- Behavioral abnormality
- Headache
More info about ABETA AMYLOIDOSIS, DUTCH TYPE
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
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
ABETAL34V AMYLOIDOSIS
Alternate names
ABETAL34V AMYLOIDOSIS Is also known as abetal34v-related amyloidosis, abeta amyloidosis, piedmont type, hchwa, piedmont type, hereditary cerebral hemorrhage with amyloidosis, piedmont type
Description
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.
Most common symptoms of ABETAL34V AMYLOIDOSIS
- Intellectual disability
- Global developmental delay
- Behavioral abnormality
- Dementia
- Stroke
More info about ABETAL34V AMYLOIDOSIS
SOURCES: ORPHANET
ABETA AMYLOIDOSIS, IOWA TYPE
Alternate names
ABETA AMYLOIDOSIS, IOWA TYPE Is also known as abetad23n amyloidosis, hchwa, iowa type, hereditary cerebral hemorrhage with amyloidosis, iowa type
Description
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.
Most common symptoms of ABETA AMYLOIDOSIS, IOWA TYPE
- Gait disturbance
- Dysphagia
- Behavioral abnormality
- Dementia
- Myoclonus
More info about ABETA AMYLOIDOSIS, IOWA TYPE
SOURCES: ORPHANET
ABETA AMYLOIDOSIS, ITALIAN TYPE
Alternate names
ABETA AMYLOIDOSIS, ITALIAN TYPE Is also known as hchwa, italian type, abetae22k amyloidosis, hereditary cerebral hemorrhage with amyloidosis, italian type
Description
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.
Most common symptoms of ABETA AMYLOIDOSIS, ITALIAN TYPE
- Seizures
- Dementia
- Mental deterioration
- Stroke
- Coma
More info about ABETA AMYLOIDOSIS, ITALIAN TYPE
SOURCES: ORPHANET
ABETAA21G AMYLOIDOSIS
Alternate names
ABETAA21G AMYLOIDOSIS Is also known as hchwa, flemish type, abeta amyloidosis, flemish type, abetaa21g-related amyloidosis, hereditary cerebral hemorrhage with amyloidosis, flemish type
Description
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.
More info about ABETAA21G AMYLOIDOSIS
SOURCES: ORPHANET
ABETA AMYLOIDOSIS, ARCTIC TYPE
Alternate names
ABETA AMYLOIDOSIS, ARCTIC TYPE Is also known as hereditary cerebral hemorrhage with amyloidosis, arctic type, abetae22g amyloidosis, hchwa, arctic type
Description
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.
Most common symptoms of ABETA AMYLOIDOSIS, ARCTIC TYPE
- Behavioral abnormality
- Febrile seizures
More info about ABETA AMYLOIDOSIS, ARCTIC TYPE
SOURCES: ORPHANET
Search interest in APP
Potential gene panels for APP gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
ADmark® APP DNA Sequencing/Duplication Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the APP gene.
More info about this panel United States.
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 United States.
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 United States.
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 Spain.
APP. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the APP gene.
More info about this panel Spain.
, APP. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the APP gene.
More info about this panel Spain.
APP. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the APP gene.
More info about this panel Spain.
Alzheimer disease type 1 (sequence analysis of APP gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the APP gene.
More info about this panel Portugal.
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 Portugal.
Cerebral amyloid angiopathy (sequence analysis of APP gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the APP gene.
More info about this panel Portugal.
Alzheimer disease type 1 (sequence analysis of exons 16 and 17 of APP gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the APP gene.
More info about this panel Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
Hereditary amyloidosis (NGS panel of 19 genes) Panel
Portugal.
By CGC Genetics Hereditary amyloidosis (NGS panel of 19 genes) that also includes the following genes: TACSTD2 TGFBI TNFRSF1A TTR NLRP3 IL31RA CST3 F10 FGA GSN
More info about this panel Portugal.
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 Portugal.
Hereditary amyloidosis (NGS panel of 19 genes) Panel
Portugal.
By CGC Genetics Hereditary amyloidosis (NGS panel of 19 genes) that also includes the following genes: TACSTD2 TGFBI TNFRSF1A TTR NLRP3 IL31RA CST3 F10 FGA GSN
More info about this panel Portugal.
Alzheimer Disease, Familial or Cerebral Amyloid Angiopathy via APP Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the APP gene.
More info about this panel United States.
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 United States.
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 United States.
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 United States.
Alzheimer Disease Type 1 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the APP gene.
More info about this panel Germany.
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 Germany.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
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 Czech Republic.
Alzheimer disease type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the APP gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
Single gene testing APP Panel
Germany.
By CeGaT GmbH
This panel specifically test the APP gene.
More info about this panel Germany.
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 Poland.
Alzheimer Disease Type 1 (APP) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the APP gene.
More info about this panel Germany.
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the APP gene.
More info about this panel Germany.
Alzheimer Disease Type 1 Panel
Germany.
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the APP gene.
More info about this panel Germany.
Test for Alzheimer Disease Type 1 Panel
Spain.
By Secugen SL
This panel specifically test the APP gene.
More info about this panel Spain.
Alzheimer Disease Type 1, Alzheimer Disease, Early-Onset Familial Panel
Germany.
By ATG-GenMed ATG-GenMed
This panel specifically test the APP gene.
More info about this panel Germany.
qChip Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panel Spain.
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 United States.
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 United States.
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 Spain.
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 Spain.
APP: APP gene sequence analysis (exons 16-17) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the APP gene.
More info about this panel Spain.
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 Netherlands.
APP - Select Exon Sequencing (APP) Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the APP gene.
More info about this panel Netherlands.
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 United States.
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 United States.
APP Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the APP gene.
More info about this panel United States.
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 Finland.
Early-onset autosomal dominant Alzheimer disease Panel
Spain.
By Bioarray
This panel specifically test the APP gene.
More info about this panel Spain.
Cerebral amyloid angiopathy, Panel
Spain.
By Bioarray
This panel specifically test the APP gene.
More info about this panel Spain.
Cerebral Amyloid Angiopathy (APP gene) Panel
Belgium.
By Diagnostic Service Facility University of Antwerp
This panel specifically test the APP gene.
More info about this panel Belgium.
Alzheimer Dementia (APP gene) Panel
Belgium.
By Diagnostic Service Facility University of Antwerp
This panel specifically test the APP gene.
More info about this panel Belgium.
AMYLOIDOSIS HEREDITARY NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL AMYLOIDOSIS HEREDITARY NGS PANEL that also includes the following genes: TACSTD2 TGFBI TNFRSF1A TTR NLRP3 IL31RA CST3 F10 FGA GSN
More info about this panel Spain.
CEREBRAL AMYLOID ANGIOPATHY Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the APP gene.
More info about this panel Spain.
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 Spain.
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 Spain.
Alzheimer Disease, Sequencing APP Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the APP gene.
More info about this panel Spain.
Alzheimer Disease, Sequencing Exons (16,17) APP Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the APP gene.
More info about this panel Spain.
Alzheimer Disease, Deletions-Duplications (MLPA) APP Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the APP gene.
More info about this panel Spain.
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 Spain.
Familial Alzheimer Disease Panel
Germany.
By Labor Dr. Wisplinghoff Familial Alzheimer Disease that also includes the following genes: APOE APP PSEN1
More info about this panel Germany.
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