AD
MCID: ALZ056
MIFTS: 57

Alzheimer Disease 3 (AD)

Categories: Cardiovascular diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Alzheimer Disease 3

MalaCards integrated aliases for Alzheimer Disease 3:

Name: Alzheimer Disease 3 56 12 52 73
Alzheimer Disease, Type 3 56 29 13 6 39
Ad3 12 52 73
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia 29 6
Alzheimer's Disease 3 12 15
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques 6
Familial Alzheimer Disease 3 with Spastic Paraparesis and Unusual Plaques 73
Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual Plaques 56
Familial Alzheimer Disease 3 with Spastic Paraparesis and Apraxia 73
Alzheimer Disease, Protection Against, Due to Apoe3-Christchurch 56
Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia 56
Early-Onset Familial Alzheimer Disease 3 73
Alzheimer Disease Early Onset Type 3 52
Alzheimer Disease, Familial, Type 3 71
Alzheimer Disease 3, Early-Onset 56
Alzheimer Disease 3, Early Onset 12
Alzheimer Disease, Familial, 3 56
Alzheimer Disease Familial 3 12
Familial Alzheimer Disease 3 73
Alzheimer Disease Type 3 52
Ad 56

Characteristics:

OMIM:

56
Miscellaneous:
rapidly progressive
later onset has been reported
severe phenotype
onset in late twenties to thirties
a subset of patients have a 'visual variant'

Inheritance:
autosomal dominant


HPO:

31
alzheimer disease 3:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset rapidly progressive


Classifications:



Summaries for Alzheimer Disease 3

UniProtKB/Swiss-Prot : 73 Alzheimer disease 3: A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid- beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

MalaCards based summary : Alzheimer Disease 3, also known as alzheimer disease, type 3, is related to early-onset, autosomal dominant alzheimer disease and alzheimer disease 2, and has symptoms including seizures, myoclonus and abnormality of extrapyramidal motor function. An important gene associated with Alzheimer Disease 3 is PSEN1 (Presenilin 1), and among its related pathways/superpathways are Parkinson disease and Alzheimers Disease. The drugs Memantine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain and kidney, and related phenotypes are agnosia and gait disturbance

Disease Ontology : 12 An Alzheimer's disease that has material basis in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24.

More information from OMIM: 607822

Related Diseases for Alzheimer Disease 3

Diseases in the Alzheimer Disease family:

Alzheimer Disease 2 Alzheimer Disease 16
Alzheimer Disease 5 Alzheimer Disease 6
Alzheimer Disease 7 Alzheimer Disease 4
Alzheimer Disease 8 Alzheimer Disease 3
Alzheimer Disease 9 Alzheimer Disease 10
Alzheimer Disease 11 Alzheimer Disease 12
Alzheimer Disease 13 Alzheimer Disease 14
Alzheimer Disease 15 Alzheimer Disease 17
Alzheimer Disease 18 Alzheimer Disease 19
Alzheimer's Disease 1 Early-Onset, Autosomal Dominant Alzheimer Disease

Diseases related to Alzheimer Disease 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1566)
# Related Disease Score Top Affiliating Genes
1 early-onset, autosomal dominant alzheimer disease 32.6 PSEN2 PSEN1
2 alzheimer disease 2 32.4 PSEN2 PSEN1 APOE
3 semantic dementia 32.1 PSEN1 APOE
4 dementia, lewy body 31.8 PSEN2 PSEN1 APOE
5 pick disease of brain 31.8 PSEN2 PSEN1 APOE
6 gerstmann syndrome 31.7 PSEN2 APOE
7 frontotemporal dementia 31.0 PSEN2 PSEN1 GRIA3 APOE
8 supranuclear palsy, progressive, 1 29.7 PSEN2 PSEN1 APOE
9 cerebral amyloid angiopathy, cst3-related 29.6 PSEN2 PSEN1 APOE
10 amnestic disorder 29.6 PSEN1 APOE
11 aphasia 29.6 PSEN2 PSEN1 APOE
12 dementia 29.5 PSEN2 PSEN1 GRIA3 APOE
13 prion disease 29.4 PSEN2 PSEN1 APOE
14 normal pressure hydrocephalus 29.3 PSEN1 APOE
15 visual agnosia 29.0 PSEN2 PSEN1 APOE
16 alzheimer disease 4 29.0 PSEN2 PSEN1 APOE
17 tarp syndrome 28.5 GRIA4 GRIA3
18 hyper-ige recurrent infection syndrome 1, autosomal dominant 12.1
19 immunodeficiency 27b 11.9
20 myopathy, centronuclear, 1 11.9
21 renal tubular acidosis, distal, autosomal dominant 11.9
22 hypocalcemia, autosomal dominant 1 11.7
23 anauxetic dysplasia 1 11.7
24 alcohol dependence 11.6
25 dermatitis, atopic 11.6
26 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 11.5
27 alzheimer disease 6 11.5
28 polycystic liver disease 11.5
29 acute disseminated encephalomyelitis 11.4
30 alcohol use disorder 11.3
31 emery-dreifuss muscular dystrophy 7, autosomal dominant 11.3
32 rickets 11.3
33 parkinson disease, late-onset 11.3
34 posterior cortical atrophy 11.3
35 aortic dissection 11.3
36 keratomalacia 11.3
37 hypoascorbemia 11.3
38 hyper ige syndrome 11.3
39 churg-strauss syndrome 11.3
40 esophagitis, eosinophilic, 1 11.3
41 epidermolysis bullosa dystrophica, autosomal dominant 11.3
42 familial mediterranean fever, autosomal dominant 11.3
43 palmoplantar keratoderma i, striate, focal, or diffuse 11.3
44 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 11.3
45 slowed nerve conduction velocity, autosomal dominant 11.3
46 mitochondrial dna depletion syndrome 12a , autosomal dominant 11.3
47 distal renal tubular acidosis 11.2
48 immunodeficiency 27a 11.2
49 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.2
50 immunodeficiency 31a 11.2

Graphical network of the top 20 diseases related to Alzheimer Disease 3:



Diseases related to Alzheimer Disease 3

Symptoms & Phenotypes for Alzheimer Disease 3

Human phenotypes related to Alzheimer Disease 3:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 agnosia 31 occasional (7.5%) HP:0010524
2 gait disturbance 31 HP:0001288
3 dysphagia 31 HP:0002015
4 myoclonus 31 HP:0001336
5 memory impairment 31 HP:0002354
6 cerebral cortical atrophy 31 HP:0002120
7 dysarthria 31 HP:0001260
8 abnormality of extrapyramidal motor function 31 HP:0002071
9 dystonia 31 HP:0001332
10 babinski sign 31 HP:0003487
11 spastic tetraparesis 31 HP:0001285
12 dementia 31 HP:0000726
13 personality changes 31 HP:0000751
14 apraxia 31 HP:0002186
15 neurofibrillary tangles 31 HP:0002185
16 lower limb hyperreflexia 31 HP:0002395
17 alzheimer disease 31 HP:0002511
18 seizure 31 HP:0001250
19 optic ataxia 31 HP:0031868

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
dysphagia
myoclonus
dysarthria
dystonia
more
Neurologic Behavioral Psychiatric Manifestations:
personality changes
behavioral changes
social withdrawal
loss of attention
loss of executive functions

Abdomen Gastrointestinal:
dysphagia

Clinical features from OMIM:

607822

UMLS symptoms related to Alzheimer Disease 3:


seizures, myoclonus, abnormality of extrapyramidal motor function, personality changes, memory loss

MGI Mouse Phenotypes related to Alzheimer Disease 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.35 APOE GRIA3 GRIA4 PSEN1 PSEN2
2 vision/eye MP:0005391 9.02 APOE GRIA4 PDSS1 PSEN1 PSEN2

Drugs & Therapeutics for Alzheimer Disease 3

Drugs for Alzheimer Disease 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Memantine Approved, Investigational Phase 4 19982-08-2 4054
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3 Neurotransmitter Agents Phase 4
4 Excitatory Amino Acid Antagonists Phase 4
5 Antiparkinson Agents Phase 4
6 Dopamine Agents Phase 4
7
Donepezil Approved Phase 2 120014-06-4 3152
8 Cholinesterase Inhibitors Phase 2
9 Cholinergic Agents Phase 2
10 Pharmaceutical Solutions Phase 1
11
Ethanol Approved 64-17-5 702
12 Olive

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Changes of Biological Markers and Brain PET Imaging and Clinical Effects of Memantine for Patients With Moderate to Severe Alzheimer's Disease: a 24 Week Double-blind, Randomized, Placebo-Controlled Study Completed NCT00800709 Phase 4 Memantine
2 A Multi-centre, Double-blind, Double-dummy, Placebo Controlled Parallel Group Randomized Phase IIb Proof of Concept Study With 3 Oral Dose Groups of AZD3480 or Donepezil During 12 Weeks Treatment in Patients With Alzheimer's Disease Completed NCT00501111 Phase 2 AZD3480;Donepezil
3 A Phase 2 Clinical Study to Explore the Optimal Dosage/Administration of PM012 Tablet in Alzheimer's Disease: Double-Blind, Randomized Between Placebo Control Group and Dose Groups, Parallel-Design, Multicenter Study Completed NCT01715350 Phase 2 PM012;Placebo
4 3-Month, Single Site or Multi-Site, Double Blind, Randomized, Placebo-Controlled, Parallel-Group Trial to Evaluate the Safety Tolerability and Potential Effects of the Dietary Supplement Anatabloc(R) in Subjects With Alzheimer's Disease Terminated NCT01669876 Phase 2
5 An Investigator- And Subject-Blind Phase 1 Study To Evaluate The Safety, Tolerability And Pharmacokinetics Of PF-04447943 After Administration Of Single Oral Doses To Healthy Young Adult Japanese Subjects And Multiple Oral Doses To Healthy Elderly Japanese Subjects Completed NCT00959803 Phase 1 PF-04447943;PF-04447943;PF-04447943;Placebo;PF-04447943;Placebo
6 Gene-Environment Interactions in Alzheimer's Disease Completed NCT00018473
7 Effects of Exercise Training in Patients With Mild Cognitive Impairment and Early Alzheimer's Disease Completed NCT02119546
8 The Effect of the Practice of Tai Chi 6-Form Sports Apparatus and Mental Training on Cognition, Self Care, Mood and General Health in Patients With Mild and Moderate Alzheimer's Disease: a Prospective Study. Completed NCT02978768
9 Defining the Genetic Etiology of Alzheimer's Disease in the Faroe Islands Recruiting NCT03628404
10 Longitudinal Comparison of the Nature and Evolution of Mild Cognitive Impairment in Individuals With and Without Parkinson's Disease Characterized by Neuroimaging, Clinical Assessments and Genotyping Recruiting NCT02637089
11 Management of Dementia With Olive Oil Leaves - GOLDEN Active, not recruiting NCT04440020
12 Impact of Lifestyle Modification on Prevention of Dementia, Chronic Kidney Disease, Diabetes, Chronic Obstructive Pulmonary Disease, Cancers and Cardiovascular Disease in a Thai General Population: Cluster Randomized Controlled Trial Active, not recruiting NCT02967406

Search NIH Clinical Center for Alzheimer Disease 3

Genetic Tests for Alzheimer Disease 3

Genetic tests related to Alzheimer Disease 3:

# Genetic test Affiliating Genes
1 Alzheimer Disease, Type 3 29 PSEN1
2 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia 29

Anatomical Context for Alzheimer Disease 3

MalaCards organs/tissues related to Alzheimer Disease 3:

40
Brain, Kidney

Publications for Alzheimer Disease 3

Articles related to Alzheimer Disease 3:

(show top 50) (show all 75)
# Title Authors PMID Year
1
Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. 6 56
31686034 2019
2
Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation. 6 56
20164095 2010
3
Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype. 6 56
17502474 2007
4
The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families. 56 6
16897084 2006
5
Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families. 6 56
16628450 2006
6
Pick bodies in a family with presenilin-1 Alzheimer's disease. 6 56
15622541 2005
7
A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis. 56 6
15534188 2004
8
A presenilin 1 R278I mutation presenting with language impairment. 6 56
15534260 2004
9
Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis. 6 56
15159497 2004
10
PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier. 56 6
14557582 2003
11
Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred. 6 56
12891668 2003
12
Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia. 56 6
12810495 2003
13
Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities. 56 6
12370477 2002
14
Molecular evidence of presenilin 1 mutation in familial early onset dementia. 56 6
11920851 2002
15
A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. 56 6
9546792 1998
16
Early-onset Alzheimer's disease due to mutations of the presenilin-1 gene on chromosome 14: a 7-year follow-up of a patient with a mutation at codon 139. 56 6
9728730 1998
17
Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. 56 6
9052708 1997
18
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. 56 6
7550356 1995
19
Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease. 6 56
7623584 1995
20
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. 56 6
7596406 1995
21
Early-Onset Familial Alzheimer Disease – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6 61
20301414 1999
22
Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation. 6
25471389 2015
23
Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians. 6
24829003 2014
24
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 56
24121961 2014
25
EFNS guidelines for the diagnosis and management of Alzheimer's disease. 6
20831773 2010
26
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
27
Preventing Alzheimer's disease and cognitive decline. 6
21500874 2010
28
Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation. 6
17366635 2007
29
Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype. 56
16533963 2006
30
Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation. 56
16401857 2006
31
Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life. 6
16344340 2005
32
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. 56
16033913 2005
33
A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease. 6
15732120 2005
34
Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease. 6
15115757 2004
35
The role of presenilin cofactors in the gamma-secretase complex. 6
12660785 2003
36
A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease. 6
12484344 2002
37
Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production. 6
12048239 2002
38
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. 6
11710891 2001
39
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. 6
11524469 2001
40
Presenilin-1-associated abnormalities in regional cerebral perfusion. 6
11402113 2001
41
Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease. 6
11030797 2000
42
The presenilin 1 C92S mutation increases abeta 42 production. 6
11027672 2000
43
Variant Alzheimer's disease with spastic paraparesis: clinical characterization. 6
10720282 2000
44
Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. 6
10401002 1999
45
Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease. 6
9831473 1998
46
Alzheimer Disease Overview 6
20301340 1998
47
Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina. 6
9712537 1998
48
A 50-year perspective of a family with chromosome-14-linked Alzheimer's disease. 6
9544835 1998
49
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene. 6
9521423 1998
50
A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease. 6
9443865 1998

Variations for Alzheimer Disease 3

ClinVar genetic disease variations for Alzheimer Disease 3:

6 (show top 50) (show all 192) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PSEN1 NM_000021.4(PSEN1):c.869-2A>TSNV Pathogenic 579680 rs1566650594 14:73673092-73673092 14:73206384-73206384
2 PSEN1 NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn)SNV Pathogenic 659639 14:73640282-73640282 14:73173574-73173574
3 PSEN1 NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp)SNV Pathogenic 807473 14:73659420-73659420 14:73192712-73192712
4 PSEN1 NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe)SNV Pathogenic 845851 14:73685847-73685847 14:73219139-73219139
5 PSEN1 NM_000021.4(PSEN1):c.436A>C (p.Met146Leu)SNV Pathogenic 18123 rs63750306 14:73640371-73640371 14:73173663-73173663
6 PSEN1 NM_000021.4(PSEN1):c.488A>G (p.His163Arg)SNV Pathogenic 18124 rs63750590 14:73653568-73653568 14:73186860-73186860
7 PSEN1 NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)SNV Pathogenic 18125 rs63750526 14:73659540-73659540 14:73192832-73192832
8 PSEN1 NM_000021.4(PSEN1):c.856C>G (p.Leu286Val)SNV Pathogenic 18126 rs63751235 14:73664825-73664825 14:73198117-73198117
9 PSEN1 NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr)SNV Pathogenic 18127 rs661 14:73683933-73683933 14:73217225-73217225
10 PSEN1 NM_000021.4(PSEN1):c.415A>G (p.Met139Val)SNV Pathogenic 18128 rs63751037 14:73640350-73640350 14:73173642-73173642
11 PSEN1 NM_000021.4(PSEN1):c.436A>G (p.Met146Val)SNV Pathogenic 18129 rs63750306 14:73640371-73640371 14:73173663-73173663
12 PSEN1 NM_000021.4(PSEN1):c.487C>T (p.His163Tyr)SNV Pathogenic 18130 rs63749885 14:73653567-73653567 14:73186859-73186859
13 PSEN1 NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala)SNV Pathogenic 18131 rs63750231 14:73664808-73664808 14:73198100-73198100
14 PSEN1 NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly)SNV Pathogenic 18132 rs63750231 14:73664808-73664808 14:73198100-73198100
15 PSEN1 NM_000021.4(PSEN1):c.438G>A (p.Met146Ile)SNV Pathogenic 18137 rs63750391 14:73640373-73640373 14:73173665-73173665
16 PSEN1 NM_000021.4(PSEN1):c.749T>C (p.Leu250Ser)SNV Pathogenic 18138 rs63751163 14:73659552-73659552 14:73192844-73192844
17 PSEN1 PSEN1, IVS4DS, 1-BP DEL, Gdeletion Pathogenic 18140
18 PSEN1 NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys)indel Pathogenic 18141 rs281875357 14:73685893-73685894 14:73219185-73219186
19 PSEN1 NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser)SNV Pathogenic 18142 rs63751141 14:73637692-73637692 14:73170984-73170984
20 PSEN1 NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)SNV Pathogenic 18143 rs63750082 14:73659420-73659420 14:73192712-73192712
21 PSEN1 NM_000021.4(PSEN1):c.796G>A (p.Gly266Ser)SNV Pathogenic 18144 rs121917807 14:73664765-73664765 14:73198057-73198057
22 PSEN1 NM_000021.4(PSEN1):c.497T>C (p.Leu166Pro)SNV Pathogenic 18146 rs63750265 14:73653577-73653577 14:73186869-73186869
23 PSEN1 NM_000021.4(PSEN1):c.520C>A (p.Leu174Met)SNV Pathogenic 18147 rs63751144 14:73653600-73653600 14:73186892-73186892
24 PSEN1 NM_000021.4(PSEN1):c.811C>G (p.Leu271Val)SNV Pathogenic 18148 rs63750886 14:73664780-73664780 14:73198072-73198072
25 PSEN1 NM_000021.4(PSEN1):c.548G>T (p.Gly183Val)SNV Pathogenic 18149 rs63751068 14:73653628-73653628 14:73186920-73186920
26 PSEN1 NM_000021.4(PSEN1):c.1307C>A (p.Pro436Gln)SNV Pathogenic 18150 rs121917808 14:73685900-73685900 14:73219192-73219192
27 PSEN1 PSEN1, 6-BP INS, NT715insertion Pathogenic 18151
28 PSEN1 NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile)SNV Pathogenic 18152 rs63749891 14:73664802-73664802 14:73198094-73198094
29 PSEN1 NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro)SNV Pathogenic 18153 rs63750599 14:73637671-73637671 14:73170963-73170963
30 PSEN1 PSEN1, 3-BP DELdeletion Pathogenic 18154
31 PSEN1 NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)SNV Pathogenic 18155 rs63750083 14:73685885-73685885 14:73219177-73219177
32 PSEN1 NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)SNV Pathogenic 18157 rs63749824 14:73637653-73637653 14:73170945-73170945
33 PSEN1 NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe)SNV Pathogenic 18158 rs63750577 14:73653589-73653589 14:73186881-73186881
34 PSEN1 NM_000021.4(PSEN1):c.1175T>C (p.Leu392Pro)SNV Pathogenic 21026 rs63750218 14:73683879-73683879 14:73217171-73217171
35 PSEN1 NM_000021.4(PSEN1):c.265G>T (p.Val89Leu)SNV Pathogenic 21027 rs63750815 14:73637682-73637682 14:73170974-73170974
36 PSEN1 PSEN1, IVS8AS, G-T, -1deletion Pathogenic 18134
37 PSEN1 NM_000021.4(PSEN1):c.360A>T (p.Glu120Asp)SNV Pathogenic 18135 rs63751272 14:73640295-73640295 14:73173587-73173587
38 PSEN1 NM_000021.4(PSEN1):c.767A>C (p.Tyr256Ser)SNV Pathogenic 21029 rs63751320 14:73659570-73659570 14:73192862-73192862
39 PSEN1 NM_000021.4(PSEN1):c.806G>A (p.Arg269His)SNV Pathogenic 38297 rs63750900 14:73664775-73664775 14:73198067-73198067
40 PSEN1 NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)SNV Pathogenic 98015 rs63750450 14:73640279-73640279 14:73173571-73173571
41 PSEN1 NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr)SNV Pathogenic 98026 rs63750004 14:73640363-73640363 14:73173655-73173655
42 PSEN1 NM_000021.4(PSEN1):c.626G>T (p.Gly209Val)SNV Pathogenic 98053 rs63750053 14:73659429-73659429 14:73192721-73192721
43 PSEN1 NM_000021.4(PSEN1):c.1141C>G (p.Leu381Val)SNV Pathogenic 98101 rs63750687 14:73683845-73683845 14:73217137-73217137
44 PSEN1 NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser)SNV Pathogenic/Likely pathogenic 98022 rs63751278 14:73640339-73640339 14:73173631-73173631
45 PSEN1 NM_000021.4(PSEN1):c.697A>G (p.Met233Val)SNV Pathogenic/Likely pathogenic 21028 rs63751287 14:73659500-73659500 14:73192792-73192792
46 PSEN1 NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)SNV Likely pathogenic 18136 rs63751223 14:73685869-73685869 14:73219161-73219161
47 PSEN1 NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr)SNV Likely pathogenic 98065 rs63749836 14:73659494-73659494 14:73192786-73192786
48 PSEN1 NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe)SNV Likely pathogenic 120170 rs63750687 14:73683845-73683845 14:73217137-73217137
49 PSEN1 NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)SNV Likely pathogenic 18145 rs63751399 14:73637755-73637755 14:73171047-73171047
50 PSEN1 NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser)SNV Likely pathogenic 18133 rs63751229 14:73664768-73664768 14:73198060-73198060

UniProtKB/Swiss-Prot genetic disease variations for Alzheimer Disease 3:

73 (show top 50) (show all 95)
# Symbol AA change Variation ID SNP ID
1 PSEN1 p.Ala79Val VAR_006413 rs63749824
2 PSEN1 p.Val82Leu VAR_006414 rs63749967
3 PSEN1 p.Val96Phe VAR_006415 rs63750601
4 PSEN1 p.Tyr115Cys VAR_006416 rs63750450
5 PSEN1 p.Tyr115His VAR_006417
6 PSEN1 p.Glu120Asp VAR_006418 rs63751272
7 PSEN1 p.Glu120Lys VAR_006419 rs63750800
8 PSEN1 p.Met139Ile VAR_006420 rs63750522
9 PSEN1 p.Met139Thr VAR_006421 rs63751106
10 PSEN1 p.Met139Val VAR_006422 rs63751037
11 PSEN1 p.Ile143Phe VAR_006423 rs63750322
12 PSEN1 p.Ile143Thr VAR_006424 rs63750004
13 PSEN1 p.Met146Ile VAR_006425 rs63750391
14 PSEN1 p.Met146Leu VAR_006426 rs63750306
15 PSEN1 p.Met146Val VAR_006427 rs63750306
16 PSEN1 p.His163Arg VAR_006428 rs63750590
17 PSEN1 p.His163Tyr VAR_006429 rs63749885
18 PSEN1 p.Ser169Leu VAR_006430 rs63751210
19 PSEN1 p.Ser169Pro VAR_006431 rs63750418
20 PSEN1 p.Leu171Pro VAR_006432 rs63750963
21 PSEN1 p.Gly209Val VAR_006433 rs63750053
22 PSEN1 p.Ile213Thr VAR_006434 rs63751309
23 PSEN1 p.Ala231Thr VAR_006435 rs63749836
24 PSEN1 p.Ala231Val VAR_006436 rs63750799
25 PSEN1 p.Met233Thr VAR_006437 rs63751024
26 PSEN1 p.Leu235Pro VAR_006438 rs63749835
27 PSEN1 p.Ala246Glu VAR_006439 rs63750526
28 PSEN1 p.Leu250Ser VAR_006440 rs63751163
29 PSEN1 p.Ala260Val VAR_006441 rs63751420
30 PSEN1 p.Leu262Phe VAR_006442 rs63750248
31 PSEN1 p.Cys263Arg VAR_006443 rs63750543
32 PSEN1 p.Pro264Leu VAR_006444 rs63750301
33 PSEN1 p.Pro267Ser VAR_006445 rs63751229
34 PSEN1 p.Pro267Thr VAR_006446
35 PSEN1 p.Arg269Gly VAR_006447 rs63751019
36 PSEN1 p.Arg269His VAR_006448 rs63750900
37 PSEN1 p.Arg278Thr VAR_006449 rs63749891
38 PSEN1 p.Glu280Ala VAR_006450 rs63750231
39 PSEN1 p.Glu280Gly VAR_006451 rs63750231
40 PSEN1 p.Ala285Val VAR_006452 rs63751139
41 PSEN1 p.Leu286Val VAR_006453 rs63751235
42 PSEN1 p.Gly378Glu VAR_006455
43 PSEN1 p.Gly384Ala VAR_006456 rs63750646
44 PSEN1 p.Leu392Val VAR_006457 rs63751416
45 PSEN1 p.Cys410Tyr VAR_006458 rs661
46 PSEN1 p.Pro436Gln VAR_006460 rs121917808
47 PSEN1 p.Pro436Ser VAR_008141 rs63749925
48 PSEN1 p.Phe105Leu VAR_009208 rs63750321
49 PSEN1 p.Pro117Leu VAR_009209 rs63749805
50 PSEN1 p.Gly209Arg VAR_009210 rs63749880

Expression for Alzheimer Disease 3

Search GEO for disease gene expression data for Alzheimer Disease 3.

Pathways for Alzheimer Disease 3

GO Terms for Alzheimer Disease 3

Cellular components related to Alzheimer Disease 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.54 PSEN2 PSEN1 APOE
2 neuromuscular junction GO:0031594 9.48 PSEN2 PSEN1
3 endocytic vesicle membrane GO:0030666 9.46 GRIA4 GRIA3
4 integral component of presynaptic membrane GO:0099056 9.43 PSEN2 PSEN1
5 postsynaptic density membrane GO:0098839 9.4 GRIA4 GRIA3
6 synaptic membrane GO:0097060 9.32 PSEN2 PSEN1
7 dendritic shaft GO:0043198 9.26 PSEN2 PSEN1
8 AMPA glutamate receptor complex GO:0032281 9.16 GRIA4 GRIA3
9 ciliary rootlet GO:0035253 8.96 PSEN2 PSEN1
10 neuronal cell body GO:0043025 8.92 PSEN2 PSEN1 GRIA4 APOE

Biological processes related to Alzheimer Disease 3 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein processing GO:0016485 9.56 PSEN2 PSEN1
2 regulation of postsynaptic membrane potential GO:0060078 9.55 GRIA4 GRIA3
3 synaptic transmission, glutamatergic GO:0035249 9.54 GRIA4 GRIA3
4 regulation of NMDA receptor activity GO:2000310 9.52 GRIA4 GRIA3
5 positive regulation of dendritic spine development GO:0060999 9.51 PSEN1 APOE
6 ionotropic glutamate receptor signaling pathway GO:0035235 9.49 GRIA4 GRIA3
7 membrane protein ectodomain proteolysis GO:0006509 9.48 PSEN2 PSEN1
8 membrane protein intracellular domain proteolysis GO:0031293 9.46 PSEN2 PSEN1
9 glutamate receptor signaling pathway GO:0007215 9.43 GRIA4 GRIA3
10 amyloid-beta metabolic process GO:0050435 9.4 PSEN2 PSEN1
11 amyloid precursor protein metabolic process GO:0042982 9.37 PSEN1 APOE
12 positive regulation of catalytic activity GO:0043085 9.33 PSEN2 PSEN1 APOE
13 amyloid precursor protein catabolic process GO:0042987 9.32 PSEN2 PSEN1
14 Notch receptor processing GO:0007220 9.26 PSEN2 PSEN1
15 Notch receptor processing, ligand-dependent GO:0035333 8.96 PSEN2 PSEN1
16 positive regulation of amyloid fibril formation GO:1905908 8.62 PSEN1 APOE

Molecular functions related to Alzheimer Disease 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.43 GRIA4 GRIA3
2 ligand-gated ion channel activity GO:0015276 9.4 GRIA4 GRIA3
3 aspartic-type endopeptidase activity GO:0004190 9.37 PSEN2 PSEN1
4 glutamate receptor activity GO:0008066 9.32 GRIA4 GRIA3
5 ionotropic glutamate receptor activity GO:0004970 9.26 GRIA4 GRIA3
6 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 9.16 PSEN2 PSEN1
7 amyloid-beta binding GO:0001540 9.13 GRIA4 GRIA3 APOE
8 AMPA glutamate receptor activity GO:0004971 8.62 GRIA4 GRIA3

Sources for Alzheimer Disease 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....