FAD
MCID: ERL029
MIFTS: 51

Early-Onset, Autosomal Dominant Alzheimer Disease (FAD)

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

Aliases & Classifications for Early-Onset, Autosomal Dominant Alzheimer Disease

MalaCards integrated aliases for Early-Onset, Autosomal Dominant Alzheimer Disease:

Name: Early-Onset, Autosomal Dominant Alzheimer Disease 52
Early-Onset Autosomal Dominant Alzheimer Disease 52 58 29 6
Familial Alzheimer Disease 52 58 71
Early-Onset Familial Autosomal Dominant Alzheimer Disease 52 58
Eofad 52 58
Fad 52

Characteristics:

Orphanet epidemiological data:

58
early-onset autosomal dominant alzheimer disease
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Early-Onset, Autosomal Dominant Alzheimer Disease

NIH Rare Diseases : 52 Early-onset, autosomal dominant Alzheimer disease is a form of Alzheimer disease (AD) that develops before the age of 65. It is diagnosed in families that have more than one member with AD (usually multiple persons in more than one generation) in which the age of onset is consistently before age 60 and often between the ages of 30 and 60 years. In general, AD is a degenerative disease of the brain that causes gradual loss of memory, judgement, and the ability to function socially. There are three subtypes of early-onset familial AD which are each associated with changes (mutations ) in unique genes : (1) Alzheimer disease, type 1 is caused by mutations in the APP gene (2) Alzheimer disease, type 3 is caused by mutations in the PSEN1 gene (3) Alzheimer disease, type 4 is caused by mutations in the PSEN2 gene. All subtypes are inherited in an autosomal dominant manner. There is no cure for AD. Treatment is supportive and based on the signs and symptoms present in each person.

MalaCards based summary : Early-Onset, Autosomal Dominant Alzheimer Disease, also known as early-onset autosomal dominant alzheimer disease, is related to alzheimer disease 2 and alzheimer disease 3. An important gene associated with Early-Onset, Autosomal Dominant Alzheimer Disease is PSEN1 (Presenilin 1), and among its related pathways/superpathways are Alzheimers Disease and Presenilin-Mediated Signaling. The drugs Dopamine and Bromocriptine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cortex, and related phenotypes are hallucinations and hypertonia

Related Diseases for Early-Onset, Autosomal Dominant Alzheimer Disease

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 Early-Onset, Autosomal Dominant Alzheimer Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 2 33.1 PSEN2 PSEN1 APP
2 alzheimer disease 3 33.0 PSEN2 PSEN1
3 alzheimer disease 4 29.7 PSEN2 PSEN1 ABCA7
4 familial isolated dilated cardiomyopathy 29.6 PSEN2 PSEN1
5 cerebral amyloid angiopathy, app-related 29.5 PSEN2 PSEN1 APP
6 cerebral amyloid angiopathy, cst3-related 29.4 PSEN2 PSEN1 APP
7 supranuclear palsy, progressive, 1 28.9 TREM2 PSEN2 PSEN1 APP
8 parkinson disease, late-onset 28.7 SORL1 PSEN2 PSEN1 APP
9 dementia 28.0 TREM2 SORL1 PSEN2 PSEN1 APP ABCA7
10 alzheimer disease 27.2 TREM2 TOMM40 SORL1 PSEN2 PSEN1 APP
11 frontotemporal dementia 27.0 TREM2 TOMM40 SORL1 PSEN2 PSEN1 APP
12 down syndrome 10.1
13 alzheimer's disease 1 10.1
14 clivus meningioma 10.1 PSEN2 APP
15 visual agnosia 10.1 PSEN2 PSEN1
16 kohlschutter-tonz syndrome 10.1 PSEN1 APP
17 communicating hydrocephalus 10.1 PSEN1 APP
18 progressive non-fluent aphasia 10.0 TREM2 PSEN1
19 myoclonus 10.0
20 semantic dementia 10.0 TREM2 PSEN1
21 amnestic disorder 10.0 PSEN1 APP
22 ataxia and polyneuropathy, adult-onset 9.9
23 amyloidosis 9.9
24 meningoencephalitis 9.9 PSEN1 APP
25 conjunctival folliculosis 9.9 PSEN2 ABCA7
26 leukoencephalopathy, hereditary diffuse, with spheroids 9.9 TREM2 APP
27 alzheimer disease 9 9.9 PSEN1 ABCA7
28 simultanagnosia 9.9 PSEN2 ABCA7
29 normal pressure hydrocephalus 9.9 PSEN1 APP
30 shipyard eye 9.9 PSEN2 ABCA7
31 cerebral amyloid angiopathy, itm2b-related, 1 9.8 PSEN2 PSEN1 APP
32 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 9.8 PSEN2 PSEN1 APP
33 gerstmann-straussler disease 9.8 PSEN2 PSEN1 APP
34 toxic encephalopathy 9.8 PSEN1 APP
35 prion disease 9.8 PSEN2 PSEN1 APP
36 amyotrophic lateral sclerosis 1 9.8
37 creutzfeldt-jakob disease 9.8
38 multiple system atrophy 1 9.8
39 ataxia-telangiectasia 9.8
40 metachromatic leukodystrophy 9.8
41 nephronophthisis 1 9.8
42 stroke, ischemic 9.8
43 alzheimer disease 5 9.8
44 alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology 9.8
45 cardiomyopathy, dilated, 1v 9.8
46 leukodystrophy 9.8
47 pertussis 9.8
48 visual epilepsy 9.8
49 allergic hypersensitivity disease 9.8
50 telangiectasis 9.8

Graphical network of the top 20 diseases related to Early-Onset, Autosomal Dominant Alzheimer Disease:



Diseases related to Early-Onset, Autosomal Dominant Alzheimer Disease

Symptoms & Phenotypes for Early-Onset, Autosomal Dominant Alzheimer Disease

Human phenotypes related to Early-Onset, Autosomal Dominant Alzheimer Disease:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hallucinations 58 31 hallmark (90%) Very frequent (99-80%) HP:0000738
2 hypertonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001276
3 myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001336
4 memory impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002354
5 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
6 abnormal social behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0012433
7 confusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0001289
8 parkinsonism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001300
9 agitation 58 31 hallmark (90%) Very frequent (99-80%) HP:0000713
10 language impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002463
11 neurofibrillary tangles 58 31 hallmark (90%) Very frequent (99-80%) HP:0002185
12 deposits immunoreactive to beta-amyloid protein 58 31 hallmark (90%) Very frequent (99-80%) HP:0003791
13 seizure 31 hallmark (90%) HP:0001250
14 disinhibition 58 31 frequent (33%) Frequent (79-30%) HP:0000734
15 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
16 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
17 abnormality of vision 58 31 occasional (7.5%) Occasional (29-5%) HP:0000504
18 dysgraphia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010526
19 aphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002381
20 oculomotor apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000657
21 finger agnosia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010525
22 semantic dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0030219
23 seizures 58 Very frequent (99-80%)
24 dementia 58 Very frequent (99-80%)
25 abnormality of higher mental function 58 Occasional (29-5%)
26 apraxia 58 Occasional (29-5%)
27 neurodevelopmental abnormality 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Early-Onset, Autosomal Dominant Alzheimer Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.1 ABCA7 APP PSEN1 PSEN2 SORL1 TREM2

Drugs & Therapeutics for Early-Onset, Autosomal Dominant Alzheimer Disease

Drugs for Early-Onset, Autosomal Dominant Alzheimer Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 1, Phase 2 51-61-6, 62-31-7 681
2
Bromocriptine Approved, Investigational Phase 1, Phase 2 25614-03-3 31101
3 Dopamine agonists Phase 1, Phase 2
4 Hormone Antagonists Phase 1, Phase 2
5 Hormones Phase 1, Phase 2
6 Antiparkinson Agents Phase 1, Phase 2
7 Neurotransmitter Agents Phase 1, Phase 2
8 Dopamine Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Double-Blind Comparative Trial and Open-Label Extension Trial to Investigate the Safety and Efficacy of TW-012R in Alzheimer's Disease With Presenilin 1 (PSEN1) Mutations Recruiting NCT04413344 Phase 1, Phase 2 Bromocriptine;Placebos

Search NIH Clinical Center for Early-Onset, Autosomal Dominant Alzheimer Disease

Genetic Tests for Early-Onset, Autosomal Dominant Alzheimer Disease

Genetic tests related to Early-Onset, Autosomal Dominant Alzheimer Disease:

# Genetic test Affiliating Genes
1 Early-Onset Autosomal Dominant Alzheimer Disease 29

Anatomical Context for Early-Onset, Autosomal Dominant Alzheimer Disease

MalaCards organs/tissues related to Early-Onset, Autosomal Dominant Alzheimer Disease:

40
Brain, Testes, Cortex, Cerebellum, Heart, Skin, Ovary

Publications for Early-Onset, Autosomal Dominant Alzheimer Disease

Articles related to Early-Onset, Autosomal Dominant Alzheimer Disease:

(show top 50) (show all 388)
# Title Authors PMID Year
1
Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation. 6 61
20164095 2010
2
A novel PSEN2 mutation associated with a peculiar phenotype. 6 61
18427071 2008
3
Identification of new presenilin gene mutations in early-onset familial Alzheimer disease. 6 61
14623725 2003
4
A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease. 61 6
12925374 2003
5
A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease. 61 6
12484344 2002
6
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. 61 6
10631141 2000
7
Early-Onset Familial Alzheimer Disease – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61 6
20301414 1999
8
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. 61 6
9050898 1997
9
Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. 6
31686034 2019
10
Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation. 6
25471389 2015
11
Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians. 6
24829003 2014
12
Alois Alzheimer's case, Auguste D., did not carry the N141I mutation in PSEN2 characteristic of Alzheimer disease in Volga Germans. 6
21911706 2011
13
EFNS guidelines for the diagnosis and management of Alzheimer's disease. 6
20831773 2010
14
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
15
The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease. 6
20457965 2010
16
Preventing Alzheimer's disease and cognitive decline. 6
21500874 2010
17
A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis. 6
19286555 2009
18
Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype. 6
17502474 2007
19
Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation. 6
17366635 2007
20
Mutations of presenilin genes in dilated cardiomyopathy and heart failure. 6
17186461 2006
21
The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families. 6
16897084 2006
22
Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families. 6
16628450 2006
23
Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life. 6
16344340 2005
24
Pick bodies in a family with presenilin-1 Alzheimer's disease. 6
15622541 2005
25
APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation. 6
15389756 2005
26
APOE genotype and cognitive decline in a middle-aged cohort. 6
15668424 2005
27
Impact of APOE in mild cognitive impairment. 6
15557508 2004
28
A presenilin 1 R278I mutation presenting with language impairment. 6
15534260 2004
29
APOE-epsilon4 predicts dementia but not other psychiatric disorders after traumatic brain injury. 6
15326261 2004
30
Longitudinal changes in cognition and behavior in asymptomatic carriers of the APOE e4 allele. 6
15184602 2004
31
Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease. 6
15115757 2004
32
Accelerated evolution of brain atrophy and "black holes" in MS patients with APOE-epsilon 4. 6
15048896 2004
33
ApoE and clusterin cooperatively suppress Abeta levels and deposition: evidence that ApoE regulates extracellular Abeta metabolism in vivo. 6
14741101 2004
34
Atypical dementia associated with a novel presenilin-2 mutation. 6
14681895 2003
35
PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier. 6
14557582 2003
36
Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred. 6
12891668 2003
37
Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia. 6
12810495 2003
38
The role of presenilin cofactors in the gamma-secretase complex. 6
12660785 2003
39
Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities. 6
12370477 2002
40
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
41
Apolipoprotein E epsilon 4 and short-term recovery from predominantly mild brain injury. 6
11940689 2002
42
APOE genotype influences acquisition and recall following traumatic brain injury. 6
11940706 2002
43
Accelerated hippocampal atrophy in Alzheimer's disease with apolipoprotein E epsilon4 allele. 6
11835377 2002
44
Current concepts in mild cognitive impairment. 6
11735772 2001
45
A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease. 6
11723295 2001
46
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. 6
11710891 2001
47
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. 6
11524469 2001
48
Presenilin-1-associated abnormalities in regional cerebral perfusion. 6
11402113 2001
49
The presenilin 1 C92S mutation increases abeta 42 production. 6
11027672 2000
50
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

Variations for Early-Onset, Autosomal Dominant Alzheimer Disease

ClinVar genetic disease variations for Early-Onset, Autosomal Dominant Alzheimer Disease:

6 (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PSEN1 NM_000021.4(PSEN1):c.*1716_*1720TATGA[4]short repeat Uncertain significance 313971 rs886050670 14:73687712-73687713 14:73221004-73221005
2 PSEN1 NM_000021.4(PSEN1):c.*1867_*1870ACAG[1]short repeat Uncertain significance 313975 rs563773430 14:73687864-73687867 14:73221156-73221159
3 PSEN1 NM_000021.3(PSEN1):c.-241G>TSNV Uncertain significance 313939 rs886050661 14:73603186-73603186 14:73136478-73136478
4 PSEN1 NM_000021.3(PSEN1):c.-226C>ASNV Uncertain significance 313940 rs200531676 14:73603201-73603201 14:73136493-73136493
5 PSEN1 NM_000021.4(PSEN1):c.*1415C>ASNV Uncertain significance 313966 rs574671310 14:73687412-73687412 14:73220704-73220704
6 PSEN1 NM_000021.4(PSEN1):c.*3033_*3034CT[2]short repeat Uncertain significance 313992 rs886050680 14:73689029-73689030 14:73222321-73222322
7 PSEN1 NM_000021.3(PSEN1):c.-214T>GSNV Uncertain significance 313941 rs886050662 14:73603213-73603213 14:73136505-73136505
8 APP NM_001136131.2(APP):c.-49+166G>ASNV Uncertain significance 339658 rs761755102 21:27543137-27543137 21:26170819-26170819
9 APP NM_001136131.2(APP):c.-49+165G>ASNV Uncertain significance 339659 rs200621906 21:27543138-27543138 21:26170820-26170820
10 APP NM_001136131.2(APP):c.-49+195C>ASNV Uncertain significance 339656 rs538664273 21:27543108-27543108 21:26170790-26170790
11 APP NM_000484.4(APP):c.819_821CAC[8] (p.Thr280dup)short repeat Uncertain significance 339641 rs527890624 21:27394181-27394182 21:26021865-26021866
12 APP NM_001136131.2(APP):c.-49+179G>TSNV Uncertain significance 339657 rs886056999 21:27543124-27543124 21:26170806-26170806
13 PSEN2 NM_000447.2(PSEN2):c.*536G>ASNV Likely benign 368866 rs16846619 1:227083816-227083816 1:226896115-226896115
14 PSEN2 NM_012486.2(PSEN2):c.-400C>TSNV Likely benign 295979 rs186308126 1:227058300-227058300 1:226870599-226870599
15 APP NM_000484.3(APP):c.*1125T>GSNV Likely benign 369359 rs45599935 21:27252856-27252856 21:25880545-25880545
16 APP NM_001136131.2(APP):c.-49+209G>CSNV Likely benign 339655 rs45476095 21:27543094-27543094 21:26170776-26170776
17 PSEN1 NM_000021.3(PSEN1):c.-296C>TSNV Benign/Likely benign 369076 rs1800839 14:73603131-73603131 14:73136423-73136423

Expression for Early-Onset, Autosomal Dominant Alzheimer Disease

Search GEO for disease gene expression data for Early-Onset, Autosomal Dominant Alzheimer Disease.

Pathways for Early-Onset, Autosomal Dominant Alzheimer Disease

Pathways related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.72 PSEN2 PSEN1 APP
2 11.65 PSEN2 PSEN1 APP
3 11.56 TREM2 SORL1 PSEN2 PSEN1 APP
4
Show member pathways
11.28 PSEN1 APP
5 10.99 PSEN2 PSEN1 APP
6 10.91 PSEN2 PSEN1
7 10.84 PSEN2 PSEN1
8 10.49 PSEN2 PSEN1 APP
9 9.96 PSEN2 PSEN1

GO Terms for Early-Onset, Autosomal Dominant Alzheimer Disease

Cellular components related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.08 TREM2 TOMM40 SORL1 PSEN2 PSEN1 APP
2 integral component of plasma membrane GO:0005887 9.89 TREM2 SORL1 PSEN2 PSEN1 APP
3 Golgi apparatus GO:0005794 9.85 SORL1 PSEN2 PSEN1 APP ABCA7
4 endosome GO:0005768 9.83 SORL1 PSEN1 APP ABCA7
5 Golgi membrane GO:0000139 9.81 SORL1 PSEN2 PSEN1 ABCA7
6 mitochondrial inner membrane GO:0005743 9.77 TOMM40 PSEN2 PSEN1
7 axon GO:0030424 9.76 PSEN2 PSEN1 APP
8 membrane raft GO:0045121 9.73 PSEN2 PSEN1 APP
9 early endosome membrane GO:0031901 9.65 SORL1 PSEN1 ABCA7
10 growth cone GO:0030426 9.61 PSEN2 PSEN1 APP
11 rough endoplasmic reticulum GO:0005791 9.59 PSEN1 APP
12 integral component of presynaptic membrane GO:0099056 9.58 PSEN2 PSEN1
13 synaptic vesicle GO:0008021 9.58 PSEN2 PSEN1 APP
14 synaptic membrane GO:0097060 9.57 PSEN2 PSEN1
15 early endosome GO:0005769 9.56 SORL1 PSEN2 PSEN1 APP
16 smooth endoplasmic reticulum GO:0005790 9.55 PSEN1 APP
17 cell surface GO:0009986 9.55 SORL1 PSEN2 PSEN1 APP ABCA7
18 neuromuscular junction GO:0031594 9.5 PSEN2 PSEN1 APP
19 nuclear envelope lumen GO:0005641 9.37 SORL1 APP
20 dendritic shaft GO:0043198 9.13 PSEN2 PSEN1 APP
21 ciliary rootlet GO:0035253 8.8 PSEN2 PSEN1 APP

Biological processes related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.86 TREM2 PSEN1 APP
2 regulation of gene expression GO:0010468 9.83 TREM2 PSEN1 APP
3 cellular protein metabolic process GO:0044267 9.82 SORL1 PSEN1 APP
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.81 TREM2 APP ABCA7
5 positive regulation of protein phosphorylation GO:0001934 9.78 TREM2 PSEN1 APP
6 Notch signaling pathway GO:0007219 9.74 PSEN2 PSEN1 APP
7 positive regulation of protein binding GO:0032092 9.68 PSEN1 APP
8 forebrain development GO:0030900 9.68 PSEN1 APP
9 learning or memory GO:0007611 9.67 PSEN1 APP
10 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.67 TREM2 APP
11 synapse organization GO:0050808 9.67 PSEN1 APP
12 protein processing GO:0016485 9.66 PSEN2 PSEN1
13 neuron apoptotic process GO:0051402 9.65 PSEN1 APP
14 positive regulation of phosphorylation GO:0042327 9.65 PSEN1 APP
15 microglial cell activation GO:0001774 9.65 TREM2 APP
16 positive regulation of glycolytic process GO:0045821 9.63 PSEN1 APP
17 regulation of protein binding GO:0043393 9.63 PSEN1 APP
18 membrane protein ectodomain proteolysis GO:0006509 9.62 PSEN2 PSEN1
19 positive regulation of tumor necrosis factor biosynthetic process GO:0042535 9.62 PSEN1 APP
20 regulation of peptidyl-tyrosine phosphorylation GO:0050730 9.61 TREM2 APP
21 protein maturation GO:0051604 9.6 SORL1 PSEN1
22 membrane protein intracellular domain proteolysis GO:0031293 9.59 PSEN2 PSEN1
23 negative regulation of amyloid-beta formation GO:1902430 9.58 SORL1 ABCA7
24 amyloid-beta metabolic process GO:0050435 9.58 PSEN2 PSEN1
25 neuron projection maintenance GO:1990535 9.56 PSEN1 APP
26 amyloid precursor protein catabolic process GO:0042987 9.55 PSEN2 PSEN1
27 Notch receptor processing GO:0007220 9.54 PSEN2 PSEN1
28 modulation of age-related behavioral decline GO:0090647 9.52 PSEN1 APP
29 regulation of resting membrane potential GO:0060075 9.51 TREM2 PSEN1
30 positive regulation of amyloid-beta clearance GO:1900223 9.49 TREM2 ABCA7
31 Notch receptor processing, ligand-dependent GO:0035333 9.48 PSEN2 PSEN1
32 amyloid-beta formation GO:0034205 9.46 PSEN1 ABCA7
33 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.43 PSEN1 APP
34 cellular response to amyloid-beta GO:1904646 9.43 TREM2 PSEN1 APP
35 positive regulation of amyloid fibril formation GO:1905908 9.4 PSEN1 APP
36 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.37 PSEN1 APP
37 astrocyte activation involved in immune response GO:0002265 9.32 PSEN1 APP
38 positive regulation of engulfment of apoptotic cell GO:1901076 9.16 TREM2 ABCA7
39 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 8.96 PSEN1 APP
40 astrocyte activation GO:0048143 8.8 TREM2 PSEN1 APP

Molecular functions related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 9.32 TREM2 SORL1
2 aspartic-type endopeptidase activity GO:0004190 9.26 PSEN2 PSEN1
3 low-density lipoprotein particle binding GO:0030169 9.16 TREM2 SORL1
4 growth factor receptor binding GO:0070851 8.96 PSEN1 APP
5 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 8.62 PSEN2 PSEN1

Sources for Early-Onset, Autosomal Dominant Alzheimer Disease

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
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