AD
MCID: ALZ056
MIFTS: 55

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 57 12 20 73
Alzheimer Disease, Type 3 57 29 13 6 39
Ad3 12 20 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 57
Familial Alzheimer Disease 3 with Spastic Paraparesis and Apraxia 73
Alzheimer Disease, Protection Against, Due to Apoe3-Christchurch 57
Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia 57
Early-Onset Familial Alzheimer Disease 3 73
Alzheimer Disease Early Onset Type 3 20
Alzheimer Disease, Familial, Type 3 71
Alzheimer Disease 3, Early-Onset 57
Alzheimer Disease 3, Early Onset 12
Alzheimer Disease, Familial, 3 57
Alzheimer Disease Familial 3 12
Familial Alzheimer Disease 3 73
Alzheimer Disease Type 3 20
Ad 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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 mild cognitive impairment, 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 Pathways of neurodegeneration - multiple diseases and CREB Pathway. Affiliated tissues include brain, and related phenotypes are agnosia and dysarthria

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 15
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 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 75)
# Related Disease Score Top Affiliating Genes
1 early-onset, autosomal dominant alzheimer disease 32.0 PSEN2 PSEN1 APP APOE
2 mild cognitive impairment 29.9 BACE1 APP APOE
3 alzheimer disease 28.2 PSEN2 PSEN1 GRIA4 GRIA3 GRIA2 GRIA1
4 residual stage of open angle glaucoma 10.4 APP APOE
5 senile plaque formation 10.4 APP APOE
6 anosognosia 10.3 PSEN1 APOE
7 nominal aphasia 10.3 PSEN1 APOE
8 ideomotor apraxia 10.3 PSEN2 APOE
9 alzheimer's disease 1 10.3 APP APOE
10 gerstmann syndrome 10.3 PSEN2 PSEN1 APOE
11 simultanagnosia 10.3 PSEN2 PSEN1 APOE
12 alexia 10.3 PSEN2 APOE
13 visual agnosia 10.3 PSEN2 PSEN1 APOE
14 semantic dementia 10.3 PSEN1 APOE
15 cerebral amyloid angiopathy, itm2b-related, 1 10.2 PSEN2 PSEN1 APP
16 gerstmann-straussler disease 10.2 PSEN2 PSEN1 APP
17 binswanger's disease 10.2 APP APOE
18 normal pressure hydrocephalus 10.2 PSEN1 APP APOE
19 cerebellar ataxia type 41 10.2 GRM1 CACNA1G
20 alzheimer disease 2 10.2 PSEN2 PSEN1 APP APOE
21 communicating hydrocephalus 10.2 PSEN2 PSEN1 APP APOE
22 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 10.2 PSEN2 PSEN1 APP APOE
23 aphasia 10.2 PSEN2 PSEN1 APP APOE
24 basal ganglia calcification 10.2 PSEN2 PSEN1 APP APOE
25 speech and communication disorders 10.1 PSEN2 PSEN1 APP APOE
26 t cell and nk cell immunodeficiency 10.1 ORAI1 CACNA1C
27 amnestic disorder 10.1 PSEN1 GRIA1 APP APOE
28 tarp syndrome 10.0 GRIA4 GRIA3 GRIA2 GRIA1
29 central nervous system disease 10.0 PSEN1 GRM1 APP APOE
30 retrograde amnesia 10.0 GRIA2 GRIA1
31 frontotemporal dementia 10.0 PSEN2 PSEN1 GRIA3 APP APOE
32 alzheimer disease 4 10.0 PSEN2 PSEN1 BACE1 APOE
33 depression 10.0 GRM1 GRIA3 GRIA2 GRIA1
34 childhood absence epilepsy 10.0 GRM1 GRIA4 GRIA1 CACNA1G
35 vascular dementia 10.0 PSEN1 BACE1 APP APOE
36 amyloidosis 9.9 PSEN1 BACE1 APP APOE
37 fragile x syndrome 9.9 GRM1 GRIA2 GRIA1 APP
38 autosomal dominant cerebellar ataxia 9.9 GRM1 CACNA1G CACNA1C APP
39 psychotic disorder 9.9 PSEN1 GRM1 GRIA1 CACNA1C
40 burkitt lymphoma 9.9
41 alzheimer disease 14 9.9
42 plasmacytoma 9.9
43 lymphopenia 9.9
44 hypoxia 9.9
45 rare tumor 9.9
46 cerebral amyloid angiopathy, app-related 9.9 PSEN2 PSEN1 BACE1 APP APOE
47 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 9.9 PSEN2 PSEN1 BACE1 APP APOE
48 supranuclear palsy, progressive, 1 9.9 PSEN2 PSEN1 BACE1 APP APOE
49 cerebral amyloid angiopathy, cst3-related 9.9 PSEN2 PSEN1 BACE1 APP APOE
50 dementia, lewy body 9.9 PSEN2 PSEN1 BACE1 APP APOE

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 dysarthria 31 HP:0001260
3 gait disturbance 31 HP:0001288
4 dysphagia 31 HP:0002015
5 myoclonus 31 HP:0001336
6 cerebral cortical atrophy 31 HP:0002120
7 abnormality of extrapyramidal motor function 31 HP:0002071
8 dystonia 31 HP:0001332
9 memory impairment 31 HP:0002354
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®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
dysarthria
dysphagia
myoclonus
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 (Updated 05-Mar-2021)

UMLS symptoms related to Alzheimer Disease 3:


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

GenomeRNAi Phenotypes related to Alzheimer Disease 3 according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.02 ITGB3
2 Decreased viability GR00055-A-2 10.02 ITGB3
3 Decreased viability GR00055-A-3 10.02 ITGB3
4 Decreased viability GR00106-A-0 10.02 SRSF1
5 Decreased viability GR00221-A-2 10.02 ITGB3
6 Decreased viability GR00221-A-4 10.02 ITGB3
7 Decreased viability GR00249-S 10.02 BACE1 CACNA1C GRIA3 ITGB3 PSEN1 SRSF1
8 Decreased viability GR00381-A-1 10.02 CACNA1G CYP2C19 SRSF1
9 Decreased viability GR00381-A-3 10.02 CACNA1G
10 Decreased viability GR00386-A-1 10.02 APOE CACNA1G GYPA PSEN2
11 Decreased viability GR00402-S-2 10.02 BACE1 ORAI1 SRSF1
12 Increased the percentage of infected cells GR00402-S-1 8.32 ORAI1

MGI Mouse Phenotypes related to Alzheimer Disease 3:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.41 APOE APP BACE1 CACNA1C CACNA1G CDKN1A
2 behavior/neurological MP:0005386 10.39 APOE APP BACE1 CACNA1C CACNA1G CDKN1A
3 cellular MP:0005384 10.37 APOE APP BACE1 CACNA1C CDKN1A FUT4
4 homeostasis/metabolism MP:0005376 10.35 APOE APP BACE1 CACNA1C CACNA1G CDKN1A
5 cardiovascular system MP:0005385 10.28 APOE APP CACNA1C CACNA1G CDKN1A FUT4
6 integument MP:0010771 10.28 APOE APP BACE1 CACNA1C CDKN1A GRIA1
7 mortality/aging MP:0010768 10.25 APOE APP BACE1 CACNA1C CDKN1A GDNF
8 nervous system MP:0003631 10.25 APOE APP BACE1 CACNA1C CACNA1G CDKN1A
9 hematopoietic system MP:0005397 10.24 APOE APP CACNA1C CDKN1A FUT4 GDNF
10 immune system MP:0005387 10.2 APOE APP CACNA1C CDKN1A FUT4 GDNF
11 muscle MP:0005369 10.07 APOE APP BACE1 CACNA1C CDKN1A GDNF
12 no phenotypic analysis MP:0003012 9.91 APOE APP BACE1 CACNA1G CDKN1A GRIA1
13 renal/urinary system MP:0005367 9.76 APOE CDKN1A FUT4 GDNF GRM1 ITGB3
14 reproductive system MP:0005389 9.65 APOE APP CACNA1C CDKN1A GDNF GRIA2
15 vision/eye MP:0005391 9.28 APOE CDKN1A GRIA4 GRM1 ITGB3 ORAI1

Drugs & Therapeutics for Alzheimer Disease 3

Search Clinical Trials , 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

Publications for Alzheimer Disease 3

Articles related to Alzheimer Disease 3:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. 57 6
31686034 2019
2
Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation. 57 6
20164095 2010
3
Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype. 6 57
17502474 2007
4
The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families. 6 57
16897084 2006
5
Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families. 6 57
16628450 2006
6
Pick bodies in a family with presenilin-1 Alzheimer's disease. 57 6
15622541 2005
7
A presenilin 1 R278I mutation presenting with language impairment. 57 6
15534260 2004
8
A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis. 6 57
15534188 2004
9
Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis. 57 6
15159497 2004
10
PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier. 6 57
14557582 2003
11
Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred. 6 57
12891668 2003
12
Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia. 6 57
12810495 2003
13
Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities. 57 6
12370477 2002
14
Molecular evidence of presenilin 1 mutation in familial early onset dementia. 6 57
11920851 2002
15
A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. 57 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. 6 57
9728730 1998
17
Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. 6 57
9052708 1997
18
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. 57 6
7550356 1995
19
Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease. 6 57
7623584 1995
20
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. 57 6
7596406 1995
21
Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation. 6
25471389 2015
22
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. 57
24121961 2014
23
Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation. 6
17366635 2007
24
Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype. 57
16533963 2006
25
Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation. 57
16401857 2006
26
Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life. 6
16344340 2005
27
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. 57
16033913 2005
28
A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease. 6
15732120 2005
29
Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease. 6
15115757 2004
30
The role of presenilin cofactors in the gamma-secretase complex. 6
12660785 2003
31
A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease. 6
12484344 2002
32
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
33
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. 6
11710891 2001
34
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. 6
11524469 2001
35
Presenilin-1-associated abnormalities in regional cerebral perfusion. 6
11402113 2001
36
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
37
The presenilin 1 C92S mutation increases abeta 42 production. 6
11027672 2000
38
Variant Alzheimer's disease with spastic paraparesis: clinical characterization. 6
10720282 2000
39
Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. 6
10401002 1999
40
Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease. 6
9831473 1998
41
Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina. 6
9712537 1998
42
A 50-year perspective of a family with chromosome-14-linked Alzheimer's disease. 6
9544835 1998
43
A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease. 6
9443865 1998
44
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene. 6
9521423 1998
45
Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene. 6
9436726 1998
46
Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype. 6
9172170 1997
47
Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Pedigree but not mutation specific age at onset provides evidence for a further genetic factor. 6
9126060 1997
48
A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis. 6
8931704 1996
49
Familial Alzheimer's disease co-segregates with a Met146I1e substitution in presenilin-1. 6
9007311 1996
50
The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology. 6
8837617 1996

Variations for Alzheimer Disease 3

ClinVar genetic disease variations for Alzheimer Disease 3:

6 (show top 50) (show all 219)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PSEN1 PSEN1, 6-BP INS, NT715 Insertion Pathogenic 18151
2 PSEN1 PSEN1, 3-BP DEL Deletion Pathogenic 18154
3 PSEN1 NM_000021.4(PSEN1):c.796G>A (p.Gly266Ser) SNV Pathogenic 18144 rs121917807 14:73664765-73664765 14:73198057-73198057
4 PSEN1 NM_000021.4(PSEN1):c.520C>A (p.Leu174Met) SNV Pathogenic 18147 rs63751144 14:73653600-73653600 14:73186892-73186892
5 PSEN1 NM_000021.4(PSEN1):c.1307C>A (p.Pro436Gln) SNV Pathogenic 18150 rs121917808 14:73685900-73685900 14:73219192-73219192
6 PSEN1 NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) SNV Pathogenic 18152 rs63749891 14:73664802-73664802 14:73198094-73198094
7 PSEN1 NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe) SNV Pathogenic 18158 rs63750577 14:73653589-73653589 14:73186881-73186881
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.1141C>G (p.Leu381Val) SNV Pathogenic 98101 rs63750687 14:73683845-73683845 14:73217137-73217137
10 PSEN1 NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp) SNV Pathogenic 807473 rs63750082 14:73659420-73659420 14:73192712-73192712
11 PSEN1 NM_000021.4(PSEN1):c.415A>G (p.Met139Val) SNV Pathogenic 18128 rs63751037 14:73640350-73640350 14:73173642-73173642
12 PSEN1 NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro) SNV Pathogenic 18153 rs63750599 14:73637671-73637671 14:73170963-73170963
13 PSEN1 NM_000021.4(PSEN1):c.799C>A (p.Pro267Thr) SNV Pathogenic 992565 14:73664768-73664768 14:73198060-73198060
14 PSEN1 NM_000021.4(PSEN1):c.436A>C (p.Met146Leu) SNV Pathogenic 18123 rs63750306 14:73640371-73640371 14:73173663-73173663
15 PSEN1 NM_000021.4(PSEN1):c.488A>G (p.His163Arg) SNV Pathogenic 18124 rs63750590 14:73653568-73653568 14:73186860-73186860
16 PSEN1 NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) SNV Pathogenic 18125 rs63750526 14:73659540-73659540 14:73192832-73192832
17 PSEN1 NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) SNV Pathogenic 18127 rs661 14:73683933-73683933 14:73217225-73217225
18 PSEN1 NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) SNV Pathogenic 18145 rs63751399 14:73637755-73637755 14:73171047-73171047
19 PSEN1 NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) SNV Pathogenic 18157 rs63749824 14:73637653-73637653 14:73170945-73170945
20 PSEN1 NM_000021.4(PSEN1):c.488A>G (p.His163Arg) SNV Pathogenic 18124 rs63750590 14:73653568-73653568 14:73186860-73186860
21 PSEN1 NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) SNV Pathogenic 18125 rs63750526 14:73659540-73659540 14:73192832-73192832
22 PSEN1 NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) SNV Pathogenic 98053 rs63750053 14:73659429-73659429 14:73192721-73192721
23 PSEN1 NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) SNV Pathogenic 18127 rs661 14:73683933-73683933 14:73217225-73217225
24 PSEN1 NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) SNV Pathogenic 18155 rs63750083 14:73685885-73685885 14:73219177-73219177
25 PSEN1 NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) SNV Pathogenic 18143 rs63750082 14:73659420-73659420 14:73192712-73192712
26 PSEN1 NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) SNV Pathogenic 98015 rs63750450 14:73640279-73640279 14:73173571-73173571
27 PSEN1 NM_000021.4(PSEN1):c.806G>A (p.Arg269His) SNV Pathogenic 38297 rs63750900 14:73664775-73664775 14:73198067-73198067
28 PSEN1 NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) SNV Pathogenic 18131 rs63750231 14:73664808-73664808 14:73198100-73198100
29 PSEN1 NM_000021.4(PSEN1):c.869-2A>T SNV Pathogenic 579680 rs1566650594 14:73673092-73673092 14:73206384-73206384
30 PSEN1 NM_000021.4(PSEN1):c.767A>C (p.Tyr256Ser) SNV Pathogenic 21029 rs63751320 14:73659570-73659570 14:73192862-73192862
31 PSEN1 NM_000021.4(PSEN1):c.548G>T (p.Gly183Val) SNV Pathogenic 18149 rs63751068 14:73653628-73653628 14:73186920-73186920
32 PSEN1 NM_000021.4(PSEN1):c.265G>T (p.Val89Leu) SNV Pathogenic 21027 rs63750815 14:73637682-73637682 14:73170974-73170974
33 PSEN1 NM_000021.4(PSEN1):c.1175T>C (p.Leu392Pro) SNV Pathogenic 21026 rs63750218 14:73683879-73683879 14:73217171-73217171
34 PSEN1 NM_000021.4(PSEN1):c.497T>C (p.Leu166Pro) SNV Pathogenic 18146 rs63750265 14:73653577-73653577 14:73186869-73186869
35 PSEN1 NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser) SNV Pathogenic 18142 rs63751141 14:73637692-73637692 14:73170984-73170984
36 PSEN1 PSEN1, IVS4DS, 1-BP DEL, G Deletion Pathogenic 18140
37 PSEN1 NM_000021.4(PSEN1):c.749T>C (p.Leu250Ser) SNV Pathogenic 18138 rs63751163 14:73659552-73659552 14:73192844-73192844
38 PSEN1 NM_000021.4(PSEN1):c.360A>T (p.Glu120Asp) SNV Pathogenic 18135 rs63751272 14:73640295-73640295 14:73173587-73173587
39 PSEN1 PSEN1, IVS8AS, G-T, -1 Deletion Pathogenic 18134
40 PSEN1 NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser) SNV Pathogenic 18133 rs63751229 14:73664768-73664768 14:73198060-73198060
41 PSEN1 NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) SNV Pathogenic 18132 rs63750231 14:73664808-73664808 14:73198100-73198100
42 PSEN1 NM_000021.4(PSEN1):c.487C>T (p.His163Tyr) SNV Pathogenic 18130 rs63749885 14:73653567-73653567 14:73186859-73186859
43 PSEN1 NM_000021.4(PSEN1):c.436A>G (p.Met146Val) SNV Pathogenic 18129 rs63750306 14:73640371-73640371 14:73173663-73173663
44 PSEN1 NM_000021.4(PSEN1):c.697A>G (p.Met233Val) SNV Pathogenic 21028 rs63751287 14:73659500-73659500 14:73192792-73192792
45 PSEN1 NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn) SNV Pathogenic 659639 rs63750730 14:73640282-73640282 14:73173574-73173574
46 PSEN1 NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) SNV Pathogenic 18157 rs63749824 14:73637653-73637653 14:73170945-73170945
47 PSEN1 NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) SNV Pathogenic 18155 rs63750083 14:73685885-73685885 14:73219177-73219177
48 PSEN1 NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) SNV Pathogenic 18143 rs63750082 14:73659420-73659420 14:73192712-73192712
49 PSEN1 NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) SNV Pathogenic 18136 rs63751223 14:73685869-73685869 14:73219161-73219161
50 PSEN1 NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) SNV Pathogenic 18131 rs63750231 14:73664808-73664808 14:73198100-73198100

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

Pathways related to Alzheimer Disease 3 according to GeneCards Suite gene sharing:

(show all 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.29 PSEN2 PSEN1 GRM1 GRIA4 GRIA3 GRIA2
2
Show member pathways
13.27 GRM1 GRIA4 GRIA3 GRIA2 GRIA1 CACNA1G
3
Show member pathways
12.74 GRM1 GRIA4 GRIA3 GRIA2 GRIA1 CACNA1G
4
Show member pathways
12.61 GRM1 GRIA4 GRIA3 GRIA2 GRIA1
5
Show member pathways
12.53 GRM1 GRIA4 GRIA3 GRIA2 GRIA1 CACNA1C
6 12.36 ORAI1 GRM1 GDNF CACNA1G CACNA1C
7 12.33 GRIA4 GRIA3 GRIA2 GRIA1 CACNA1C
8 12.29 ORAI1 GRIA4 GRIA3 GRIA2 GRIA1 CACNA1C
9
Show member pathways
12.19 GRIA4 GRIA3 GRIA2 GRIA1
10 12.07 GRM1 GRIA3 GRIA2 GRIA1
11
Show member pathways
12.01 GRM1 GRIA4 GRIA3 GRIA1
12 12 GRIA4 GRIA3 GRIA2 APOE
13
Show member pathways
11.98 GRIA4 GRIA3 GRIA2 GRIA1 CACNA1C
14 11.97 PSEN2 PSEN1 CACNA1C BACE1 APP APOE
15 11.89 CYP2C19 CACNA1C APP
16 11.89 PSEN2 PSEN1 CACNA1G CACNA1C BACE1 APP
17 11.86 PSEN2 PSEN1 GRM1 GRIA4 GRIA3 GRIA2
18
Show member pathways
11.81 GRM1 GRIA4 GRIA3 GRIA2 GRIA1
19
Show member pathways
11.79 GRIA4 GRIA3 GRIA2 GRIA1
20 11.63 GRM1 GRIA3 GRIA2 GRIA1
21 11.58 CDKN1A CACNA1G CACNA1C
23
Show member pathways
11.47 GRM1 GRIA4 GRIA3 GRIA2 GRIA1 CACNA1C
24 11.4 GRIA4 GRIA3 GRIA2 GRIA1
25 11.35 GDNF CACNA1G CACNA1C
26 11.21 PSEN2 PSEN1 BACE1 APP APOE
27 11.13 GRIA4 GRIA3 GRIA2 GRIA1
28 11.07 GRIA4 GRIA3 GRIA1
29 11.07 PSEN2 PSEN1 BACE1 APP
30
Show member pathways
10.55 CACNA1G CACNA1C
31 10.32 PSEN2 PSEN1

GO Terms for Alzheimer Disease 3

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.48 PSEN2 PSEN1 ORAI1 ITGB3 GYPA GRM1
2 integral component of membrane GO:0016021 10.4 PSEN2 PSEN1 ORAI1 ITGB3 GYPA GRM1
3 plasma membrane GO:0005886 10.35 PSEN2 PSEN1 ORAI1 ITGB3 GYPA GRM1
4 Golgi apparatus GO:0005794 10.16 PSEN2 PSEN1 GDNF FUT4 BACE1 APP
5 cell projection GO:0042995 10.13 PSEN1 ITGB3 GRIA4 GRIA1 CACNA1C BACE1
6 cell junction GO:0030054 10.11 PSEN1 ITGB3 GRIA4 GRIA3 GRIA2 GRIA1
7 integral component of plasma membrane GO:0005887 10.07 PSEN2 PSEN1 ORAI1 ITGB3 GYPA GRM1
8 cell surface GO:0009986 10.05 PSEN2 PSEN1 ITGB3 GRIA1 FUT4 BACE1
9 neuron projection GO:0043005 10 PSEN1 GRM1 GRIA1 CACNA1G APP
10 membrane raft GO:0045121 9.93 PSEN2 PSEN1 ORAI1 BACE1 APP
11 early endosome GO:0005769 9.92 PSEN1 BACE1 APP APOE
12 postsynaptic density GO:0014069 9.92 GRM1 GRIA2 GRIA1 CACNA1C
13 synaptic vesicle GO:0008021 9.88 PSEN1 GRIA1 BACE1 APP
14 neuronal cell body GO:0043025 9.87 PSEN2 PSEN1 GRIA4 GRIA2 GRIA1 BACE1
15 dendritic spine GO:0043197 9.85 GRIA4 GRIA3 GRIA2 GRIA1 APP
16 endocytic vesicle membrane GO:0030666 9.8 GRIA4 GRIA3 GRIA2 GRIA1
17 neuromuscular junction GO:0031594 9.78 PSEN2 PSEN1 APP
18 dendritic shaft GO:0043198 9.73 PSEN2 PSEN1 APP
19 postsynaptic membrane GO:0045211 9.73 ITGB3 GRIA4 GRIA3 GRIA2 GRIA1 CACNA1C
20 postsynaptic density membrane GO:0098839 9.71 GRM1 GRIA2 GRIA1 CACNA1C
21 ciliary rootlet GO:0035253 9.61 PSEN2 PSEN1 APP
22 synapse GO:0045202 9.61 PSEN1 ITGB3 GRIA4 GRIA3 GRIA2 GRIA1
23 gamma-secretase complex GO:0070765 9.59 PSEN2 PSEN1
24 AMPA glutamate receptor complex GO:0032281 9.46 GRIA4 GRIA3 GRIA2 GRIA1
25 dendrite GO:0030425 9.23 PSEN1 GRM1 GRIA4 GRIA2 GRIA1 CACNA1C

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10 ORAI1 GRIA4 GRIA3 GRIA2 GRIA1 CACNA1G
2 negative regulation of gene expression GO:0010629 9.97 PSEN1 CDKN1A APP APOE
3 chemical synaptic transmission GO:0007268 9.95 GRM1 GRIA2 GRIA1 CACNA1G
4 cellular protein metabolic process GO:0044267 9.93 PSEN1 BACE1 APP APOE
5 ion transmembrane transport GO:0034220 9.92 GRIA4 GRIA3 GRIA2 GRIA1 CACNA1G
6 Notch signaling pathway GO:0007219 9.85 PSEN2 PSEN1 APP
7 calcium ion transmembrane transport GO:0070588 9.84 PSEN1 ORAI1 CACNA1G CACNA1C
8 protein processing GO:0016485 9.81 PSEN2 PSEN1 BACE1
9 calcium ion transport GO:0006816 9.77 PSEN2 PSEN1 ORAI1 CACNA1G CACNA1C
10 regulation of postsynaptic membrane potential GO:0060078 9.76 GRM1 GRIA3 GRIA1
11 cellular response to amyloid-beta GO:1904646 9.74 PSEN1 BACE1 APP
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.67 CACNA1G CACNA1C
13 calcium ion import GO:0070509 9.67 ORAI1 CACNA1G CACNA1C
14 astrocyte activation GO:0048143 9.66 PSEN1 APP
15 glutamate receptor signaling pathway GO:0007215 9.66 GRIA4 GRIA3
16 negative regulation of long-term synaptic potentiation GO:1900272 9.65 APP APOE
17 regulation of postsynaptic cytosolic calcium ion concentration GO:0099566 9.65 GRM1 GRIA1
18 membrane protein ectodomain proteolysis GO:0006509 9.65 PSEN2 PSEN1 BACE1
19 amyloid precursor protein metabolic process GO:0042982 9.64 PSEN1 APOE
20 neuron projection maintenance GO:1990535 9.64 PSEN1 APP
21 L-glutamate import across plasma membrane GO:0098712 9.62 PSEN1 GRM1
22 modulation of age-related behavioral decline GO:0090647 9.62 PSEN1 APP
23 cellular response to manganese ion GO:0071287 9.61 BACE1 APP
24 positive regulation of adenylate cyclase activity GO:0045762 9.61 ORAI1 CACNA1C
25 amyloid-beta metabolic process GO:0050435 9.61 PSEN2 PSEN1 BACE1
26 Notch receptor processing GO:0007220 9.6 PSEN2 PSEN1
27 Notch receptor processing, ligand-dependent GO:0035333 9.59 PSEN2 PSEN1
28 membrane depolarization during AV node cell action potential GO:0086045 9.58 CACNA1G CACNA1C
29 amyloid precursor protein catabolic process GO:0042987 9.58 PSEN2 PSEN1 BACE1
30 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.56 PSEN1 APP
31 astrocyte activation involved in immune response GO:0002265 9.55 PSEN1 APP
32 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.51 PSEN1 APP
33 amyloid-beta formation GO:0034205 9.5 PSEN2 PSEN1 BACE1
34 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.43 PSEN1 ITGB3 APP
35 regulation of NMDA receptor activity GO:2000310 9.35 GRIA4 GRIA3 GRIA2 GRIA1 APP
36 positive regulation of amyloid fibril formation GO:1905908 9.33 PSEN1 APP APOE
37 ionotropic glutamate receptor signaling pathway GO:0035235 9.02 GRIA4 GRIA3 GRIA2 GRIA1 APP

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 9.8 GRIA4 GRIA3 GRIA2 GRIA1
2 ion channel activity GO:0005216 9.73 GRIA4 GRIA3 GRIA2 GRIA1 CACNA1G CACNA1C
3 endopeptidase activity GO:0004175 9.7 PSEN2 PSEN1 BACE1
4 calcium channel activity GO:0005262 9.67 PSEN1 ORAI1 CACNA1G CACNA1C
5 ligand-gated ion channel activity GO:0015276 9.62 GRIA4 GRIA3 GRIA2 GRIA1
6 aspartic-type endopeptidase activity GO:0004190 9.58 PSEN2 PSEN1 BACE1
7 glutamate receptor activity GO:0008066 9.54 GRM1 GRIA1
8 growth factor receptor binding GO:0070851 9.51 PSEN1 APP
9 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 9.48 PSEN2 PSEN1
10 neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration GO:0099583 9.46 GRM1 GRIA1
11 ionotropic glutamate receptor activity GO:0004970 9.46 GRIA4 GRIA3 GRIA2 GRIA1
12 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.43 CACNA1G CACNA1C
13 amyloid-beta binding GO:0001540 9.43 GRIA4 GRIA3 GRIA2 GRIA1 BACE1 APOE
14 AMPA glutamate receptor activity GO:0004971 8.92 GRIA4 GRIA3 GRIA2 GRIA1

Sources for Alzheimer Disease 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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