AD4
MCID: ALZ054
MIFTS: 44

Alzheimer Disease 4 (AD4)

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

Aliases & Classifications for Alzheimer Disease 4

MalaCards integrated aliases for Alzheimer Disease 4:

Name: Alzheimer Disease 4 57 12 20 72 70
Ad4 57 12 20 72
Alzheimer Disease, Type 4 29 6 39
Alzheimer's Disease 4 12 15
Alzheimer Disease-4 57 13
Alzheimer's Disease 4, Early Onset 12
Alzheimer Disease Familial Type 4 20
Alzheimer Disease, Familial, 4 57
Alzheimer Disease, Familial4 12
Alzheimer Disease Type 4 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
early onset, between 35-60 years
accounts for <2% of patients with alzheimer's disease
see entry for general information on alzheimer disease


HPO:

31
alzheimer disease 4:
Inheritance autosomal dominant inheritance
Onset and clinical course middle age onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110040
OMIM® 57 606889
MeSH 44 D000544
MedGen 41 C1847200
UMLS 70 C1847200

Summaries for Alzheimer Disease 4

UniProtKB/Swiss-Prot : 72 Alzheimer disease 4: 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 4, also known as ad4, is related to early-onset, autosomal dominant alzheimer disease and anosognosia. An important gene associated with Alzheimer Disease 4 is PSEN2 (Presenilin 2), and among its related pathways/superpathways are Neuroscience and Alzheimers Disease. Affiliated tissues include cortex and heart, and related phenotypes are memory impairment and dementia

Disease Ontology : 12 An Alzheimer's disease that has material basis in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42.

More information from OMIM: 606889

Related Diseases for Alzheimer Disease 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 early-onset, autosomal dominant alzheimer disease 31.7 PSEN2 PSEN1 APOE ABCA7
2 anosognosia 10.2 PSEN1 APOE
3 ideomotor apraxia 10.2 PSEN2 APOE
4 froelich syndrome 10.2 MS4A6E MS4A4A
5 basophil adenoma 10.2 MS4A6E MS4A4A
6 nominal aphasia 10.2 PSEN1 APOE
7 semantic dementia 10.2 PSEN1 APOE
8 gerstmann syndrome 10.2 PSEN2 PSEN1 APOE
9 visual agnosia 10.2 PSEN2 PSEN1 APOE
10 alzheimer disease 2 10.2 PSEN2 PSEN1 APOE
11 cerebral amyloid angiopathy, app-related 10.2 PSEN2 PSEN1 APOE
12 aphasia 10.1 PSEN2 PSEN1 APOE
13 communicating hydrocephalus 10.1 PSEN1 APOE
14 alexia 10.1 PSEN2 APOE ABCA7
15 cerebral amyloid angiopathy, itm2b-related, 1 10.0 PSEN2 PSEN1
16 speech and communication disorders 10.0 PSEN2 PSEN1 APOE
17 mild cognitive impairment 10.0 BACE1 APOE
18 alzheimer disease 9 10.0 PSEN1 ABCA7
19 alzheimer's disease 1 10.0 PICALM EXOC3L2 APOE
20 toxic encephalopathy 10.0 PSEN1 BACE1 APOE
21 vascular dementia 9.9 PSEN1 BACE1 APOE
22 tardive dyskinesia 9.9
23 sickle cell anemia 9.9
24 beta-thalassemia 9.9
25 sex cord-gonadal stromal tumor 9.9
26 hemoglobinopathy 9.9
27 thalassemia 9.9
28 alzheimer disease 3 9.9 PSEN2 PSEN1 BACE1 APOE
29 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 9.9 PSEN2 PSEN1 BACE1 APOE
30 cerebral amyloid angiopathy, cst3-related 9.9 PSEN2 PSEN1 BACE1 APOE
31 chromosomal duplication syndrome 9.9 PSEN2 PSEN1 BACE1 APOE
32 chromosomal disease 9.9 PSEN2 PSEN1 BACE1 APOE
33 frontotemporal dementia 9.9 PSEN2 PSEN1 APOE ABCA7
34 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 9.8 PSEN2 PSEN1 MS4A4A APOE ABCA7
35 simultanagnosia 9.7 PSEN2 PSEN1 BIN1 APOE ABCA7
36 dementia 9.7 PSEN2 PSEN1 BACE1 APOE ABCA7
37 amyloidosis 9.6 PSEN1 BACE1 APOE
38 supranuclear palsy, progressive, 1 9.6 PSEN2 PSEN1 PICALM BACE1 APOE
39 pick disease of brain 9.6 PSEN2 PSEN1 PICALM BACE1 APOE
40 dementia, lewy body 9.2 PSEN2 PSEN1 PICALM BIN1 BACE1 APOE
41 disease of mental health 8.9 PSEN2 PSEN1 PICALM CD2AP BIN1 BACE1
42 alzheimer disease 8.5 PSEN2 PSEN1 PICALM MTHFD1L EXOC3L2 CR1

Graphical network of the top 20 diseases related to Alzheimer Disease 4:



Diseases related to Alzheimer Disease 4

Symptoms & Phenotypes for Alzheimer Disease 4

Human phenotypes related to Alzheimer Disease 4:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 memory impairment 31 very rare (1%) HP:0002354
2 dementia 31 very rare (1%) HP:0000726
3 apraxia 31 very rare (1%) HP:0002186
4 cerebral amyloid angiopathy 31 very rare (1%) HP:0011970
5 neurofibrillary tangles 31 HP:0002185
6 senile plaques 31 HP:0100256
7 alzheimer disease 31 HP:0002511
8 sleep-wake cycle disturbance 31 HP:0006979
9 parietal hypometabolism in fdg pet 31 HP:0012662

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
sleep-wake cycle disturbance
presenile dementia

Laboratory Abnormalities:
neurofibrillary tangles and neuritic senile plaques rare
severe amyloid angiopathy

Clinical features from OMIM®:

606889 (Updated 05-Apr-2021)

Drugs & Therapeutics for Alzheimer Disease 4

Search Clinical Trials , NIH Clinical Center for Alzheimer Disease 4

Genetic Tests for Alzheimer Disease 4

Genetic tests related to Alzheimer Disease 4:

# Genetic test Affiliating Genes
1 Alzheimer Disease, Type 4 29 APOE PSEN2

Anatomical Context for Alzheimer Disease 4

MalaCards organs/tissues related to Alzheimer Disease 4:

40
Cortex, Heart

Publications for Alzheimer Disease 4

Articles related to Alzheimer Disease 4:

(show all 39)
# Title Authors PMID Year
1
Alois Alzheimer's case, Auguste D., did not carry the N141I mutation in PSEN2 characteristic of Alzheimer disease in Volga Germans. 57 6
21911706 2011
2
The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease. 6 57
20457965 2010
3
A novel PSEN2 mutation associated with a peculiar phenotype. 57 6
18427071 2008
4
Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype. 6 57
16533963 2006
5
A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease. 6 57
12925374 2003
6
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. 6 57
7651536 1995
7
Candidate gene for the chromosome 1 familial Alzheimer's disease locus. 57 6
7638622 1995
8
Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease. 6
26166204 2015
9
Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis. 6
24928124 2014
10
Novel presenilin mutations within Moroccan patients with Early-Onset Alzheimer's Disease. 6
24704512 2014
11
MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins. 6
22115042 2012
12
Mutant presenilin 2 increases β-secretase activity through reactive oxygen species-dependent activation of extracellular signal-regulated kinase. 6
22249458 2012
13
Presenilin-2 mutation causes early amyloid accumulation and memory impairment in a transgenic mouse model of Alzheimer's disease. 6
21234330 2011
14
Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. 6
20375137 2010
15
Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes. 6
20634584 2010
16
Three-year follow-up of a patient with early-onset Alzheimer's disease with presenilin-2 N141I mutation - case report and review of the literature. 6
19073399 2008
17
Molecular signatures of neurodegeneration in the cortex of PS1/PS2 double knockout mice. 6
18834536 2008
18
[Familial Alzheimer's disease with presenilin 2 N141I mutation. A case report]. 6
18833506 2008
19
Mutations of presenilin genes in dilated cardiomyopathy and heart failure. 6
17186461 2006
20
Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations. 6
16959576 2006
21
Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios. 6
15663477 2005
22
APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation. 6
15389756 2005
23
Atypical dementia associated with a novel presenilin-2 mutation. 6
14681895 2003
24
Identification of new presenilin gene mutations in early-onset familial Alzheimer disease. 6
14623725 2003
25
A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease. 6
11723295 2001
26
Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I. 57
10822446 2000
27
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. 6
10631141 2000
28
Alzheimer's disease-linked mutation of presenilin 2 (N141I-PS2) drastically lowers APPalpha secretion: control by the proteasome. 6
9813158 1998
29
Amyloid angiopathy in a Volga German family with Alzheimer's disease and a presenilin-2 mutation (N141I). 57
9450781 1998
30
The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue. 6
9050898 1997
31
Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice. 6
8986743 1997
32
Wide range in age of onset for chromosome 1--related familial Alzheimer's disease. 57
9007102 1996
33
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. 6
7550356 1995
34
A familial Alzheimer's disease locus on chromosome 1. 57
7638621 1995
35
Absence of linkage of chromosome 21q21 markers to familial Alzheimer's disease. 57
3420406 1988
36
Familial Alzheimer's disease in American descendants of the Volga Germans: probable genetic founder effect. 57
3345066 1988
37
Frailty as a Predictor of Alzheimer Disease, Vascular Dementia, and All Dementia Among Community-Dwelling Older People: A Systematic Review and Meta-Analysis. 61
27324809 2016
38
Early-Onset Familial Alzheimer Disease – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301414 1999
39
Growth properties and in vitro life span of Alzheimer disease and Down syndrome fibroblasts. A blind study. 61
2139155 1990

Variations for Alzheimer Disease 4

ClinVar genetic disease variations for Alzheimer Disease 4:

6 (show top 50) (show all 90)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PSEN1 nsv1067886 Deletion Pathogenic 38296 GRCh37: 14:73671470-73676025
GRCh38: 14:73204762-73209317
2 PSEN2 NC_000001.11:g.(?_226881888)_(226895599_?)del Deletion Pathogenic 533784 GRCh37: 1:227069589-227083300
GRCh38: 1:226881888-226895599
3 PSEN2 NM_000447.3(PSEN2):c.715A>G (p.Met239Val) SNV Pathogenic 8846 rs28936379 GRCh37: 1:227076678-227076678
GRCh38: 1:226888977-226888977
4 PSEN2 NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) SNV Pathogenic 8847 rs63750110 GRCh37: 1:227083249-227083249
GRCh38: 1:226895548-226895548
5 PSEN2 NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met) SNV Pathogenic 8848 rs63750666 GRCh37: 1:227083222-227083222
GRCh38: 1:226895521-226895521
6 PSEN2 NM_000447.3(PSEN2):c.717G>A (p.Met239Ile) SNV Pathogenic 8850 rs63749884 GRCh37: 1:227076680-227076680
GRCh38: 1:226888979-226888979
7 PSEN2 NM_000447.3(PSEN2):c.365C>G (p.Thr122Arg) SNV Pathogenic 8851 rs28936380 GRCh37: 1:227073247-227073247
GRCh38: 1:226885546-226885546
8 PSEN2 NM_000447.3(PSEN2):c.254C>T (p.Ala85Val) SNV Pathogenic 8853 rs63750048 GRCh37: 1:227071518-227071518
GRCh38: 1:226883817-226883817
9 PSEN2 NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) SNV Pathogenic 8845 rs63750215 GRCh37: 1:227073304-227073304
GRCh38: 1:226885603-226885603
10 PSEN2 NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) SNV Pathogenic 8849 rs63749851 GRCh37: 1:227073246-227073246
GRCh38: 1:226885545-226885545
11 PSEN1 NM_000021.4(PSEN1):c.806G>A (p.Arg269His) SNV Pathogenic 38297 rs63750900 GRCh37: 14:73664775-73664775
GRCh38: 14:73198067-73198067
12 PSEN2 NM_000447.3(PSEN2):c.557dup (p.Tyr187fs) Duplication Pathogenic 998187 GRCh37: 1:227075849-227075850
GRCh38: 1:226888148-226888149
13 APOE NM_000041.4(APOE):c.388T>C (p.Cys130Arg) SNV Pathogenic 17864 rs429358 GRCh37: 19:45411941-45411941
GRCh38: 19:44908684-44908684
14 PSEN2 NM_000447.3(PSEN2):c.886+2_886+4del Deletion Likely pathogenic 465218 rs1553268799 GRCh37: 1:227077836-227077838
GRCh38: 1:226890135-226890137
15 PSEN2 NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) SNV Conflicting interpretations of pathogenicity 295989 rs200610057 GRCh37: 1:227071600-227071600
GRCh38: 1:226883899-226883899
16 PSEN2 NM_000447.3(PSEN2):c.690C>G (p.Ala230=) SNV Conflicting interpretations of pathogenicity 295991 rs145010538 GRCh37: 1:227076653-227076653
GRCh38: 1:226888952-226888952
17 PSEN2 NM_000447.3(PSEN2):c.1304G>A (p.Arg435Gln) SNV Uncertain significance 876474 GRCh37: 1:227083237-227083237
GRCh38: 1:226895536-226895536
18 PSEN2 NM_000447.3(PSEN2):c.401G>A (p.Arg134His) SNV Uncertain significance 1021859 GRCh37: 1:227073283-227073283
GRCh38: 1:226885582-226885582
19 PSEN2 NM_000447.3(PSEN2):c.184C>T (p.Arg62Cys) SNV Uncertain significance 567646 rs150400387 GRCh37: 1:227071448-227071448
GRCh38: 1:226883747-226883747
20 PSEN2 NM_000447.3(PSEN2):c.928T>C (p.Ser310Pro) SNV Uncertain significance 947401 GRCh37: 1:227079020-227079020
GRCh38: 1:226891319-226891319
21 APOE NM_000041.4(APOE):c.137T>C (p.Leu46Pro) SNV Uncertain significance 242765 rs769452 GRCh37: 19:45411110-45411110
GRCh38: 19:44907853-44907853
22 PSEN2 NM_000447.3(PSEN2):c.729C>G (p.Phe243Leu) SNV Uncertain significance 874475 GRCh37: 1:227076692-227076692
GRCh38: 1:226888991-226888991
23 PSEN2 NM_000447.3(PSEN2):c.487C>T (p.Arg163Cys) SNV Uncertain significance 569712 rs200931244 GRCh37: 1:227073369-227073369
GRCh38: 1:226885668-226885668
24 PSEN2 NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala) SNV Uncertain significance 191771 rs202133351 GRCh37: 1:227071469-227071469
GRCh38: 1:226883768-226883768
25 PSEN2 NM_000447.3(PSEN2):c.241C>T (p.Leu81Phe) SNV Uncertain significance 646449 rs1405799988 GRCh37: 1:227071505-227071505
GRCh38: 1:226883804-226883804
26 PSEN2 NM_000447.3(PSEN2):c.305T>C (p.Val102Ala) SNV Uncertain significance 651353 rs1571951543 GRCh37: 1:227071569-227071569
GRCh38: 1:226883868-226883868
27 PSEN2 NM_000447.3(PSEN2):c.772G>A (p.Ala258Thr) SNV Uncertain significance 652702 rs148238688 GRCh37: 1:227076735-227076735
GRCh38: 1:226889034-226889034
28 PSEN2 NM_000447.3(PSEN2):c.80C>T (p.Thr27Met) SNV Uncertain significance 855512 GRCh37: 1:227069688-227069688
GRCh38: 1:226881987-226881987
29 PSEN2 NM_000447.3(PSEN2):c.927C>T (p.Pro309=) SNV Uncertain significance 874529 GRCh37: 1:227079019-227079019
GRCh38: 1:226891318-226891318
30 PSEN2 NM_000447.3(PSEN2):c.*210G>A SNV Uncertain significance 874589 GRCh37: 1:227083490-227083490
GRCh38: 1:226895789-226895789
31 PSEN2 NM_000447.3(PSEN2):c.-278C>A SNV Uncertain significance 874391 GRCh37: 1:227059034-227059034
GRCh38: 1:226871333-226871333
32 PSEN2 NM_000447.3(PSEN2):c.-184C>T SNV Uncertain significance 875307 GRCh37: 1:227063088-227063088
GRCh38: 1:226875387-226875387
33 PSEN2 NM_000447.3(PSEN2):c.300C>T (p.Ile100=) SNV Uncertain significance 706267 rs200801915 GRCh37: 1:227071564-227071564
GRCh38: 1:226883863-226883863
34 PSEN2 NM_000447.3(PSEN2):c.1177G>A (p.Val393Met) SNV Uncertain significance 875452 GRCh37: 1:227081812-227081812
GRCh38: 1:226894111-226894111
35 PSEN2 NM_000447.3(PSEN2):c.*284T>A SNV Uncertain significance 874590 GRCh37: 1:227083564-227083564
GRCh38: 1:226895863-226895863
36 PSEN2 NM_000447.3(PSEN2):c.*378G>C SNV Uncertain significance 875518 GRCh37: 1:227083658-227083658
GRCh38: 1:226895957-226895957
37 PSEN2 NM_000447.3(PSEN2):c.-136G>A SNV Uncertain significance 876264 GRCh37: 1:227063136-227063136
GRCh38: 1:226875435-226875435
38 PSEN2 NM_000447.3(PSEN2):c.1308G>A (p.Pro436=) SNV Uncertain significance 873585 GRCh37: 1:227083241-227083241
GRCh38: 1:226895540-226895540
39 PSEN2 NM_000447.3(PSEN2):c.1245C>T (p.Ala415=) SNV Uncertain significance 876472 GRCh37: 1:227083178-227083178
GRCh38: 1:226895477-226895477
40 PSEN2 NM_000447.3(PSEN2):c.1262C>T (p.Thr421Met) SNV Uncertain significance 876473 GRCh37: 1:227083195-227083195
GRCh38: 1:226895494-226895494
41 PSEN2 NM_000447.3(PSEN2):c.*479G>T SNV Uncertain significance 876526 GRCh37: 1:227083759-227083759
GRCh38: 1:226896058-226896058
42 PSEN2 NM_000447.3(PSEN2):c.482A>G (p.Lys161Arg) SNV Uncertain significance 972418 GRCh37: 1:227073364-227073364
GRCh38: 1:226885663-226885663
43 PSEN2 NM_000447.3(PSEN2):c.*72T>C SNV Uncertain significance 295997 rs886046062 GRCh37: 1:227083352-227083352
GRCh38: 1:226895651-226895651
44 PSEN2 NM_000447.3(PSEN2):c.-144A>G SNV Uncertain significance 295984 rs886046061 GRCh37: 1:227063128-227063128
GRCh38: 1:226875427-226875427
45 PSEN2 NM_000447.3(PSEN2):c.-82T>C SNV Uncertain significance 295985 rs200607063 GRCh37: 1:227063190-227063190
GRCh38: 1:226875489-226875489
46 PSEN2 NM_000447.3(PSEN2):c.*306G>A SNV Uncertain significance 296002 rs145129440 GRCh37: 1:227083586-227083586
GRCh38: 1:226895885-226895885
47 PSEN2 NM_000447.3(PSEN2):c.*132T>C SNV Uncertain significance 296000 rs186288674 GRCh37: 1:227083412-227083412
GRCh38: 1:226895711-226895711
48 PSEN2 NM_000447.3(PSEN2):c.410A>G (p.Asn137Ser) SNV Uncertain significance 295990 rs749301595 GRCh37: 1:227073292-227073292
GRCh38: 1:226885591-226885591
49 PSEN2 NM_000447.3(PSEN2):c.*20G>A SNV Uncertain significance 295996 rs201399057 GRCh37: 1:227083300-227083300
GRCh38: 1:226895599-226895599
50 PSEN2 NM_000447.3(PSEN2):c.937G>A (p.Gly313Ser) SNV Uncertain significance 295993 rs756225509 GRCh37: 1:227079029-227079029
GRCh38: 1:226891328-226891328

UniProtKB/Swiss-Prot genetic disease variations for Alzheimer Disease 4:

72
# Symbol AA change Variation ID SNP ID
1 PSEN2 p.Asn141Ile VAR_006462 rs63750215
2 PSEN2 p.Met239Val VAR_006463 rs28936379
3 PSEN2 p.Val148Ile VAR_007958 rs63750812
4 PSEN2 p.Thr122Pro VAR_009214 rs63749851
5 PSEN2 p.Met239Ile VAR_009215 rs63749884
6 PSEN2 p.Thr122Arg VAR_081261 rs28936380
7 PSEN2 p.Asn141Tyr VAR_081263 rs61761208

Expression for Alzheimer Disease 4

Search GEO for disease gene expression data for Alzheimer Disease 4.

Pathways for Alzheimer Disease 4

Pathways related to Alzheimer Disease 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.09 PSEN2 PSEN1 BIN1 BACE1 APOE
2 11.73 PSEN2 PSEN1 BACE1 APOE
3 11.7 PSEN2 PSEN1 BACE1
4 10.91 PSEN2 PSEN1
5 10.84 PSEN2 PSEN1
6 10.58 PSEN2 PSEN1 BACE1 APOE
7 10.49 PSEN2 PSEN1 BACE1
8 10.02 PSEN2 PSEN1

GO Terms for Alzheimer Disease 4

Cellular components related to Alzheimer Disease 4 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.19 PSEN2 PSEN1 PICALM MS4A4A CR1 CD2AP
2 endoplasmic reticulum GO:0005783 10 PSEN2 PSEN1 MS4A4A BACE1 APOE ABCA7
3 Golgi apparatus GO:0005794 9.8 PSEN2 PSEN1 PICALM MS4A4A BACE1 APOE
4 axon GO:0030424 9.78 PSEN1 CD2AP BIN1 BACE1
5 dendrite GO:0030425 9.72 PSEN1 CD2AP BIN1 BACE1 APOE
6 early endosome GO:0005769 9.71 PSEN1 PICALM BACE1 APOE
7 vesicle GO:0031982 9.69 PICALM CD2AP BIN1
8 Z disc GO:0030018 9.63 PSEN2 PSEN1 BIN1
9 dendritic shaft GO:0043198 9.55 PSEN2 PSEN1
10 neuronal cell body GO:0043025 9.55 PSEN2 PSEN1 PICALM BACE1 APOE
11 plasma membrane raft GO:0044853 9.54 MS4A4A CR1
12 ciliary rootlet GO:0035253 9.43 PSEN2 PSEN1
13 gamma-secretase complex GO:0070765 9.37 PSEN2 PSEN1
14 synaptic vesicle GO:0008021 9.26 PSEN1 PICALM BIN1 BACE1
15 cell surface GO:0009986 9.1 PSEN2 PSEN1 PICALM CR1 BACE1 ABCA7

Biological processes related to Alzheimer Disease 4 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 protein processing GO:0016485 9.67 PSEN2 PSEN1 BACE1
2 regulation of endocytosis GO:0030100 9.61 PICALM BIN1
3 positive regulation of catalytic activity GO:0043085 9.6 PSEN2 PSEN1
4 cholesterol efflux GO:0033344 9.59 APOE ABCA7
5 positive regulation of dendritic spine development GO:0060999 9.58 PSEN1 APOE
6 membrane protein intracellular domain proteolysis GO:0031293 9.58 PSEN2 PSEN1
7 positive regulation of cholesterol efflux GO:0010875 9.57 APOE ABCA7
8 high-density lipoprotein particle assembly GO:0034380 9.56 APOE ABCA7
9 phospholipid efflux GO:0033700 9.55 APOE ABCA7
10 amyloid precursor protein metabolic process GO:0042982 9.54 PSEN1 APOE
11 modulation of age-related behavioral decline GO:0090647 9.52 PSEN1 PICALM
12 Notch receptor processing GO:0007220 9.51 PSEN2 PSEN1
13 negative regulation of amyloid-beta formation GO:1902430 9.5 BIN1 APOE ABCA7
14 positive regulation of amyloid-beta clearance GO:1900223 9.48 APOE ABCA7
15 Notch receptor processing, ligand-dependent GO:0035333 9.46 PSEN2 PSEN1
16 positive regulation of amyloid fibril formation GO:1905908 9.43 PSEN1 APOE
17 membrane protein ectodomain proteolysis GO:0006509 9.43 PSEN2 PSEN1 BACE1
18 positive regulation of phospholipid efflux GO:1902995 9.4 APOE ABCA7
19 regulation of amyloid precursor protein catabolic process GO:1902991 9.37 APOE ABCA7
20 amyloid-beta metabolic process GO:0050435 9.33 PSEN2 PSEN1 BACE1
21 amyloid precursor protein catabolic process GO:0042987 9.13 PSEN2 PSEN1 BACE1
22 amyloid-beta formation GO:0034205 8.92 PSEN2 PSEN1 BACE1 ABCA7

Molecular functions related to Alzheimer Disease 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.54 PICALM BIN1 APOE
2 endopeptidase activity GO:0004175 9.5 PSEN2 PSEN1 BACE1
3 lipid transporter activity GO:0005319 9.43 APOE ABCA7
4 amyloid-beta binding GO:0001540 9.43 PICALM BACE1 APOE
5 low-density lipoprotein particle receptor binding GO:0050750 9.4 PICALM APOE
6 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 9.16 PSEN2 PSEN1
7 tau protein binding GO:0048156 9.13 PICALM BIN1 APOE
8 aspartic-type endopeptidase activity GO:0004190 8.8 PSEN2 PSEN1 BACE1

Sources for Alzheimer Disease 4

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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