MCID: ERL006
MIFTS: 38

Early-Onset Familial Alzheimer Disease

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

Aliases & Classifications for Early-Onset Familial Alzheimer Disease

MalaCards integrated aliases for Early-Onset Familial Alzheimer Disease:

Name: Early-Onset Familial Alzheimer Disease 24 29 6
Eofad 24

Characteristics:

GeneReviews:

24
Penetrance Ad3 (psen1 pathogenic variants). penetrance is complete by age 65 years, except for occasional later onset associated with the variants p.ala79val and p.arg269his [brickell et al 2007, kauwe et al 2007, larner et al 2007]...

Classifications:



Summaries for Early-Onset Familial Alzheimer Disease

MalaCards based summary : Early-Onset Familial Alzheimer Disease, also known as eofad, is related to early-onset, autosomal dominant alzheimer disease and frontotemporal dementia. An important gene associated with Early-Onset Familial Alzheimer Disease is PSEN1 (Presenilin 1), and among its related pathways/superpathways are Neuroscience and Presenilin-Mediated Signaling. The drugs Dipivefrin and Sevoflurane have been mentioned in the context of this disorder. Affiliated tissues include breast and testes, and related phenotype is normal.

GeneReviews: NBK1236

Related Diseases for Early-Onset Familial Alzheimer Disease

Graphical network of the top 20 diseases related to Early-Onset Familial Alzheimer Disease:



Diseases related to Early-Onset Familial Alzheimer Disease

Symptoms & Phenotypes for Early-Onset Familial Alzheimer Disease

MGI Mouse Phenotypes related to Early-Onset Familial Alzheimer Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.17 APP HFE NUMB PSEN1 PSEN2 SP2

Drugs & Therapeutics for Early-Onset Familial Alzheimer Disease

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

(show top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dipivefrin Approved Phase 4,Not Applicable 52365-63-6 3105
2
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
3
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
4
Ondansetron Approved Phase 4 99614-02-5 4595
5
Sorbitol Approved Phase 4 50-70-4 5780
6
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
7 Xenon Phase 4
8 Dexamethasone acetate Phase 4 1177-87-3
9 glucocorticoids Phase 4
10
protease inhibitors Phase 4
11 Central Nervous System Depressants Phase 4,Phase 3
12 Micronutrients Phase 4
13 Serotonin Agents Phase 4
14 Serotonin Antagonists Phase 4
15 Gastrointestinal Agents Phase 4
16 Neurotransmitter Agents Phase 4
17 HIV Protease Inhibitors Phase 4
18 Anesthetics Phase 4,Phase 3
19 Hormone Antagonists Phase 4
20 Anesthetics, General Phase 4
21 Dermatologic Agents Phase 4,Phase 3
22 Anesthetics, Inhalation Phase 4
23 Trace Elements Phase 4
24 Tranquilizing Agents Phase 4
25 Hormones Phase 4
26 Anti-Anxiety Agents Phase 4
27 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
28 Peripheral Nervous System Agents Phase 4,Phase 3
29 Vitamins Phase 4
30 Platelet Aggregation Inhibitors Phase 4
31 Antiemetics Phase 4
32 Antioxidants Phase 4
33 Protective Agents Phase 4
34 Anti-Inflammatory Agents Phase 4
35 Antipruritics Phase 4
36 Antipsychotic Agents Phase 4
37 Psychotropic Drugs Phase 4
38 BB 1101 Phase 4
39 Autonomic Agents Phase 4
40 Antineoplastic Agents, Hormonal Phase 4
41 Pharmaceutical Solutions Phase 4
42
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
43
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
44
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
45
Interferon beta-1a Approved, Investigational Phase 3 145258-61-3 6438354
46
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
47
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
48 tannic acid Approved, Nutraceutical Phase 3
49 Sodium Channel Blockers Phase 3
50 Anesthetics, Local Phase 3

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 Visual Function With Bilateral AcrySof® ReSTOR® Aspheric SN6AD1 Completed NCT00710931 Phase 4
2 Visual Performance After RESTOR Implantation Completed NCT01065064 Phase 4
3 Visual Acuity After the Combined Binocular Implantation of +2.5 Diopters and +3.0 Diopters ReSTOR Multifocal Intraocular Lenses. Completed NCT02314572 Phase 4
4 Depth of Hypnosis and Postoperative Nausea and Vomiting During Xenon Anaesthesia Completed NCT00793663 Phase 4 Xenon;Sevoflurane;Dexamethasone;NaCl;Ondansetron;NaCl
5 ACRYSOF® ReSTOR® Aspheric +3.0 D Add Power Intraocular Lens (IOL) Completed NCT00684138 Phase 4
6 Visual Outcomes of Subjects Bilaterally Implanted With ReSTOR Aspheric +4 vs. Tecnis or Acri.LISA Completed NCT00721253 Phase 4
7 Cognitive and Cerebral Blood Flow Effects of Vitamin C Completed NCT01055418 Phase 4
8 Clinical Study to Evaluate the Visual Performance of Three Multifocal IOLs Completed NCT02990689 Phase 4
9 Presbyopia-Correcting Intraocular Lenses (IOLs) Completed NCT00963560 Phase 4
10 Comparison of Outcomes With Multifocal Intraocular Lenses Recruiting NCT02678962 Phase 4
11 Effect of Sublingual Immunotherapy in Patients With Atopic Dermatitis Recruiting NCT03388866 Phase 4 Mite extract sublingual immunotherapy (SLIT)
12 Visual Function With Contralateral AcrySof® ReSTOR® Aspheric SN6AD1 and SN6AD3 Terminated NCT00710905 Phase 4
13 Lidocaine Infusion for Major Abdominal Pediatric Surgery Completed NCT01387568 Phase 3 Lidocaine Infusion;saline Infusion
14 Oral Cladribine in Early Multiple Sclerosis (MS) Completed NCT00725985 Phase 3 Cladribine;Cladribine;Placebo;Rebif® new formulation (RNF)
15 A Long-term Study of Baricitinib (LY3009104) With Topical Corticosteroids in Adults With Moderate to Severe Atopic Dermatitis That Are Not Controlled With Cyclosporine or for Those Who Cannot Take Oral Cyclosporine Because it is Not Medically Advisable Recruiting NCT03428100 Phase 3 Baricitinib;Placebo;Topical corticosteroid
16 A Study of Long-term Baricitinib (LY3009104) Therapy in Atopic Dermatitis Recruiting NCT03334435 Phase 3 Baricitinib;Placebo
17 A Study of Baricitinib (LY3009104) in Adults With Moderate to Severe Atopic Dermatitis Recruiting NCT03334396 Phase 3 Baricitinib;Placebo
18 Efficacy and Safety Study of DCB-AD1 in Patients With Mild to Moderate Alzheimer’s Disease Unknown status NCT00154635 Phase 2 DCB-AD1
19 Physiotherapy on the Airway of Bruxist Children Completed NCT01178229 Phase 1, Phase 2
20 Intranasal AD4-H5-VTN as an Adenovirus Vaccine Completed NCT01806909 Phase 1
21 Experimental AD4-H5-VTN Vaccine in Healthy Volunteers Completed NCT01443936 Phase 1
22 Safety and Immunogenicity of Replication-Competent Adenovirus 4-vectored Vaccine for Avian Influenza H5N1 Completed NCT01006798 Phase 1
23 A Phase 1 Ascending Dose Study to Assess the Safety and Immunogenicity of Adenovirus Anthrax Vector Candidate Vaccines Completed NCT01979406 Phase 1
24 Mechanism of Action Trial of ColoAd1 Completed NCT02053220 Phase 1
25 Safety Study of VM206RY in Subjects With Expression of HER2 in Breast Cancer Completed NCT01895491 Phase 1
26 Clinical Trial of HIV Vaccine Combinations in Healthy Men and Women Recruiting NCT03408262 Phase 1
27 Study of Safety and Immunogenicity of HIV Vaccines in Healthy Volunteers Active, not recruiting NCT01989533 Phase 1
28 Study to Evaluate the Safety and Immunogenicity of Orally-administered HIV Vaccine in Healthy, HIV-uninfected Adult Participants Active, not recruiting NCT02771730 Phase 1
29 Single-Ascending-Dose Study of BIIB076 in Healthy Volunteers and Participants With Alzheimer's Disease Active, not recruiting NCT03056729 Phase 1 BIIB076;Placebo
30 Alsertib (MLN8237) and Brentuximab Vedotin for Relapsed/Refractory CD30-Positive Lymphomas and Solid Malignancies Not yet recruiting NCT02780011 Phase 1 Brentuximab Vedotin;Alsertib
31 cAd3-Marburg Vaccine in Healthy Adults Not yet recruiting NCT03475056 Phase 1
32 A Study to Assess the Safety, Pharmacodynamics, and Immunogenicity of PXVX0047 Terminated NCT03160339 Phase 1
33 Visual and Economic Profits of ReSTOR® Multifocal Intraocular Lenses (IOL) on Public Health Patients in Spain Unknown status NCT01088282 Not Applicable
34 Visual Performance of Pseudophakic Patient With Different Intraocular Lenses Unknown status NCT01763411
35 ReSTOR Natural +3.0D Study In Japan Completed NCT00758576 Not Applicable
36 A Clinical Outcome Study of Two Multifocal Intraocular Lenses (IOL) in Cataract Patients Completed NCT01684007 Not Applicable
37 Visual Performance of New Apodized Diffractive Multifocal IOL With Addition of Plus Three Completed NCT01027533
38 Visual Outcomes After Cataract Surgery: Multifocal AcrySof® IQ ReSTOR® Intraocular Lenses Versus Monofocal Intraocular Lenses Completed NCT01290068 Not Applicable
39 A Comparison of Visual Function After Bilateral Implantation of Presbyopia Correcting Intraocular Lenses Completed NCT01299155 Not Applicable
40 A Comparison of Visual Function After Bilateral Implantation of Presbyopia-Correcting Intraocular Lenses (IOLs) Completed NCT01257217 Not Applicable
41 Effects of Visual Arts Training on Dementia Completed NCT02432222 Not Applicable
42 Changes of Angle Kappa After Implantation of Multifocal Intraocular Lenses Completed NCT03297086 Not Applicable
43 Utilization of Negative Pressure Suction to Reduce Aspiration in Oropharyngeal Dysphagia Recruiting NCT03368079 Not Applicable
44 CPAP to Improve Swallow Function Post Total Laryngectomy Recruiting NCT03328702 Not Applicable

Search NIH Clinical Center for Early-Onset Familial Alzheimer Disease

Genetic Tests for Early-Onset Familial Alzheimer Disease

Genetic tests related to Early-Onset Familial Alzheimer Disease:

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

Anatomical Context for Early-Onset Familial Alzheimer Disease

MalaCards organs/tissues related to Early-Onset Familial Alzheimer Disease:

41
Breast, Testes

Publications for Early-Onset Familial Alzheimer Disease

Articles related to Early-Onset Familial Alzheimer Disease:

(show all 11)
# Title Authors Year
1
Converging approaches to understanding early onset familial Alzheimer disease: A First Nation study. ( 27092264 )
2015
2
A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease. ( 24582897 )
2014
3
[Study of mutations of presenilin 1 gene in early-onset familial Alzheimers disease]. ( 24928006 )
2014
4
Genetic counseling for early-onset familial Alzheimer disease in large Aboriginal kindred from a remote community in British Columbia: unique challenges and possible solutions. ( 20927575 )
2011
5
Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1. ( 18580586 )
2008
6
Identification of new presenilin gene mutations in early-onset familial Alzheimer disease. ( 14623725 )
2003
7
Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia. ( 11708991 )
2001
8
Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain. ( 11165779 )
2001
9
Early-onset familial Alzheimer disease with coexisting beta-amyloid and prion pathology. ( 10755493 )
2000
10
The differential diagnosis of adult onset metachromatic leukodystrophy and early onset familial Alzheimer disease in an Alzheimer clinic population. ( 8313247 )
1993
11
Early-Onset Familial Alzheimer Disease ( 20301414 )
1993

Variations for Early-Onset Familial Alzheimer Disease

ClinVar genetic disease variations for Early-Onset Familial Alzheimer Disease:

6
(show top 50) (show all 302)
# Gene Variation Type Significance SNP ID Assembly Location
1 PSEN2 NM_000447.2(PSEN2): c.69T> C (p.Ala23=) single nucleotide variant Benign/Likely benign rs11405 GRCh38 Chromosome 1, 226881976: 226881976
2 PSEN2 NM_000447.2(PSEN2): c.69T> C (p.Ala23=) single nucleotide variant Benign/Likely benign rs11405 GRCh37 Chromosome 1, 227069677: 227069677
3 PSEN2 NM_000447.2(PSEN2): c.129C> T (p.Asn43=) single nucleotide variant Benign/Likely benign rs6759 GRCh38 Chromosome 1, 226882036: 226882036
4 PSEN2 NM_000447.2(PSEN2): c.129C> T (p.Asn43=) single nucleotide variant Benign/Likely benign rs6759 GRCh37 Chromosome 1, 227069737: 227069737
5 PSEN2 NM_000447.2(PSEN2): c.261C> T (p.His87=) single nucleotide variant Benign/Likely benign rs1046240 GRCh38 Chromosome 1, 226883824: 226883824
6 PSEN2 NM_000447.2(PSEN2): c.261C> T (p.His87=) single nucleotide variant Benign/Likely benign rs1046240 GRCh37 Chromosome 1, 227071525: 227071525
7 PSEN2 NM_000447.2(PSEN2): c.441C> T (p.Ser147=) single nucleotide variant Likely benign rs114334281 GRCh38 Chromosome 1, 226885622: 226885622
8 PSEN2 NM_000447.2(PSEN2): c.441C> T (p.Ser147=) single nucleotide variant Likely benign rs114334281 GRCh37 Chromosome 1, 227073323: 227073323
9 PSEN2 NM_000447.2(PSEN2): c.708T> C (p.Ser236=) single nucleotide variant Likely benign rs61730652 GRCh38 Chromosome 1, 226888970: 226888970
10 PSEN2 NM_000447.2(PSEN2): c.708T> C (p.Ser236=) single nucleotide variant Likely benign rs61730652 GRCh37 Chromosome 1, 227076671: 227076671
11 PSEN2 NM_000447.2(PSEN2): c.756G> C (p.Ala252=) single nucleotide variant Uncertain significance rs147702142 GRCh37 Chromosome 1, 227076719: 227076719
12 PSEN2 NM_000447.2(PSEN2): c.756G> C (p.Ala252=) single nucleotide variant Uncertain significance rs147702142 GRCh38 Chromosome 1, 226889018: 226889018
13 PSEN2 NM_000447.2(PSEN2): c.903G> T (p.Thr301=) single nucleotide variant Benign/Likely benign rs6426553 GRCh38 Chromosome 1, 226891294: 226891294
14 PSEN2 NM_000447.2(PSEN2): c.903G> T (p.Thr301=) single nucleotide variant Benign/Likely benign rs6426553 GRCh37 Chromosome 1, 227078995: 227078995
15 PSEN1 NM_000021.3(PSEN1): c.1017A> G (p.Glu339=) single nucleotide variant Uncertain significance rs201776669 GRCh37 Chromosome 14, 73678538: 73678538
16 PSEN1 NM_000021.3(PSEN1): c.1017A> G (p.Glu339=) single nucleotide variant Uncertain significance rs201776669 GRCh38 Chromosome 14, 73211830: 73211830
17 PSEN2 NM_000447.2(PSEN2): c.-144A> G single nucleotide variant Uncertain significance rs886046061 GRCh38 Chromosome 1, 226875427: 226875427
18 PSEN2 NM_000447.2(PSEN2): c.-144A> G single nucleotide variant Uncertain significance rs886046061 GRCh37 Chromosome 1, 227063128: 227063128
19 PSEN2 NM_000447.2(PSEN2): c.38T> C (p.Val13Ala) single nucleotide variant Uncertain significance rs766853710 GRCh38 Chromosome 1, 226881945: 226881945
20 PSEN2 NM_000447.2(PSEN2): c.38T> C (p.Val13Ala) single nucleotide variant Uncertain significance rs766853710 GRCh37 Chromosome 1, 227069646: 227069646
21 PSEN2 NM_000447.2(PSEN2): c.222C> G (p.Gly74=) single nucleotide variant Uncertain significance rs773522773 GRCh38 Chromosome 1, 226883785: 226883785
22 PSEN2 NM_000447.2(PSEN2): c.222C> G (p.Gly74=) single nucleotide variant Uncertain significance rs773522773 GRCh37 Chromosome 1, 227071486: 227071486
23 PSEN2 NM_000447.2(PSEN2): c.954C> T (p.Pro318=) single nucleotide variant Conflicting interpretations of pathogenicity rs199587016 GRCh38 Chromosome 1, 226891345: 226891345
24 PSEN2 NM_000447.2(PSEN2): c.954C> T (p.Pro318=) single nucleotide variant Conflicting interpretations of pathogenicity rs199587016 GRCh37 Chromosome 1, 227079046: 227079046
25 PSEN2 NM_000447.2(PSEN2): c.*306G> A single nucleotide variant Uncertain significance rs145129440 GRCh38 Chromosome 1, 226895885: 226895885
26 PSEN2 NM_000447.2(PSEN2): c.*306G> A single nucleotide variant Uncertain significance rs145129440 GRCh37 Chromosome 1, 227083586: 227083586
27 PSEN2 NM_000447.2(PSEN2): c.*405G> T single nucleotide variant Uncertain significance rs116807339 GRCh38 Chromosome 1, 226895984: 226895984
28 PSEN2 NM_000447.2(PSEN2): c.*405G> T single nucleotide variant Uncertain significance rs116807339 GRCh37 Chromosome 1, 227083685: 227083685
29 PSEN2 NM_000447.2(PSEN2): c.-43C> T single nucleotide variant Likely benign rs7961 GRCh38 Chromosome 1, 226875528: 226875528
30 PSEN2 NM_000447.2(PSEN2): c.-43C> T single nucleotide variant Likely benign rs7961 GRCh37 Chromosome 1, 227063229: 227063229
31 PSEN2 NM_000447.2(PSEN2): c.690C> G (p.Ala230=) single nucleotide variant Uncertain significance rs145010538 GRCh38 Chromosome 1, 226888952: 226888952
32 PSEN2 NM_000447.2(PSEN2): c.690C> G (p.Ala230=) single nucleotide variant Uncertain significance rs145010538 GRCh37 Chromosome 1, 227076653: 227076653
33 PSEN2 NM_000447.2(PSEN2): c.937G> A (p.Gly313Ser) single nucleotide variant Uncertain significance rs756225509 GRCh38 Chromosome 1, 226891328: 226891328
34 PSEN2 NM_000447.2(PSEN2): c.937G> A (p.Gly313Ser) single nucleotide variant Uncertain significance rs756225509 GRCh37 Chromosome 1, 227079029: 227079029
35 PSEN2 NM_000447.2(PSEN2): c.1077C> T (p.Gly359=) single nucleotide variant Uncertain significance rs753503617 GRCh38 Chromosome 1, 226894011: 226894011
36 PSEN2 NM_000447.2(PSEN2): c.1077C> T (p.Gly359=) single nucleotide variant Uncertain significance rs753503617 GRCh37 Chromosome 1, 227081712: 227081712
37 PSEN2 NM_000447.2(PSEN2): c.*103C> T single nucleotide variant Uncertain significance rs571670427 GRCh38 Chromosome 1, 226895682: 226895682
38 PSEN2 NM_000447.2(PSEN2): c.*103C> T single nucleotide variant Uncertain significance rs571670427 GRCh37 Chromosome 1, 227083383: 227083383
39 PSEN2 NM_000447.2(PSEN2): c.*120G> A single nucleotide variant Uncertain significance rs143059995 GRCh38 Chromosome 1, 226895699: 226895699
40 PSEN2 NM_000447.2(PSEN2): c.*120G> A single nucleotide variant Uncertain significance rs143059995 GRCh37 Chromosome 1, 227083400: 227083400
41 PSEN2 NM_000447.2(PSEN2): c.*132T> C single nucleotide variant Uncertain significance rs186288674 GRCh38 Chromosome 1, 226895711: 226895711
42 PSEN2 NM_000447.2(PSEN2): c.*132T> C single nucleotide variant Uncertain significance rs186288674 GRCh37 Chromosome 1, 227083412: 227083412
43 PSEN2 NM_000447.2(PSEN2): c.-356A> G single nucleotide variant Likely benign rs12758915 GRCh38 Chromosome 1, 226870643: 226870643
44 PSEN2 NM_000447.2(PSEN2): c.-356A> G single nucleotide variant Likely benign rs12758915 GRCh37 Chromosome 1, 227058344: 227058344
45 PSEN2 NM_000447.2(PSEN2): c.-338A> G single nucleotide variant Likely benign rs6665033 GRCh38 Chromosome 1, 226871273: 226871273
46 PSEN2 NM_000447.2(PSEN2): c.-338A> G single nucleotide variant Likely benign rs6665033 GRCh37 Chromosome 1, 227058974: 227058974
47 PSEN2 NM_000447.2(PSEN2): c.-275C> T single nucleotide variant Likely benign rs1295645 GRCh38 Chromosome 1, 226871336: 226871336
48 PSEN2 NM_000447.2(PSEN2): c.-275C> T single nucleotide variant Likely benign rs1295645 GRCh37 Chromosome 1, 227059037: 227059037
49 PSEN2 NM_000447.2(PSEN2): c.861C> T (p.Pro287=) single nucleotide variant Likely benign rs75733498 GRCh38 Chromosome 1, 226890108: 226890108
50 PSEN2 NM_000447.2(PSEN2): c.861C> T (p.Pro287=) single nucleotide variant Likely benign rs75733498 GRCh37 Chromosome 1, 227077809: 227077809

Expression for Early-Onset Familial Alzheimer Disease

Search GEO for disease gene expression data for Early-Onset Familial Alzheimer Disease.

Pathways for Early-Onset Familial Alzheimer Disease

Pathways related to Early-Onset Familial Alzheimer Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.89 APP NUMB PSEN1 PSEN2 TMED10
2 11.76 APP PSEN1 PSEN2
3 11.24 APP PSEN1 PSEN2
4 10.99 APP PSEN1 PSEN2
5 10.89 PSEN1 PSEN2
6
Show member pathways
10.45 ACOT2 ACOT4
7 10.16 APP PSEN1 PSEN2
8 10.15 ACOT2 ACOT4
9 9.96 PSEN1 PSEN2

GO Terms for Early-Onset Familial Alzheimer Disease

Cellular components related to Early-Onset Familial Alzheimer Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.63 APP HFE NUMB PSEN1 TMED10 VPS41
2 growth cone GO:0030426 9.58 APP PSEN1 PSEN2
3 apical part of cell GO:0045177 9.54 APP HFE NUMB
4 smooth endoplasmic reticulum GO:0005790 9.43 APP PSEN1
5 neuromuscular junction GO:0031594 9.43 APP PSEN1 PSEN2
6 gamma-secretase complex GO:0070765 9.32 PSEN1 TMED10
7 dendritic shaft GO:0043198 9.13 APP PSEN1 PSEN2
8 ciliary rootlet GO:0035253 8.8 APP PSEN1 PSEN2

Biological processes related to Early-Onset Familial Alzheimer Disease according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 Notch signaling pathway GO:0007219 9.74 APP PSEN1 PSEN2
2 forebrain development GO:0030900 9.67 APP NUMB PSEN1
3 positive regulation of phosphorylation GO:0042327 9.62 APP PSEN1
4 cellular response to amyloid-beta GO:1904646 9.61 APP PSEN1
5 long-chain fatty acid metabolic process GO:0001676 9.61 ACOT2 ACOT4
6 positive regulation of protein binding GO:0032092 9.61 APP HFE PSEN1
7 membrane protein ectodomain proteolysis GO:0006509 9.6 PSEN1 PSEN2
8 regulation of protein binding GO:0043393 9.59 APP PSEN1
9 membrane protein intracellular domain proteolysis GO:0031293 9.58 PSEN1 PSEN2
10 regulated exocytosis GO:0045055 9.58 TMED10 VPS41
11 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.56 HFE PSEN1
12 Notch receptor processing GO:0007220 9.55 PSEN1 PSEN2
13 amyloid-beta metabolic process GO:0050435 9.54 PSEN1 PSEN2
14 Notch receptor processing, ligand-dependent GO:0035333 9.52 PSEN1 PSEN2
15 very long-chain fatty acid metabolic process GO:0000038 9.51 ACOT2 ACOT4
16 astrocyte activation GO:0048143 9.48 APP PSEN1
17 amyloid precursor protein catabolic process GO:0042987 9.46 PSEN1 PSEN2
18 modulation of age-related behavioral decline GO:0090647 9.4 APP PSEN1
19 neuron projection maintenance GO:1990535 9.37 APP PSEN1
20 positive regulation of amyloid fibril formation GO:1905908 9.32 APP PSEN1
21 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.26 APP PSEN1
22 astrocyte activation involved in immune response GO:0002265 9.16 APP PSEN1
23 negative regulation of low-density lipoprotein receptor activity GO:1905598 8.96 APP PSEN1
24 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 8.62 APP PSEN1

Molecular functions related to Early-Onset Familial Alzheimer Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.73 ACOT2 ACOT4 APP HFE
2 aspartic-type endopeptidase activity GO:0004190 9.4 PSEN1 PSEN2
3 acyl-CoA hydrolase activity GO:0047617 9.32 ACOT2 ACOT4
4 palmitoyl-CoA hydrolase activity GO:0016290 9.26 ACOT2 ACOT4
5 thiolester hydrolase activity GO:0016790 9.16 ACOT2 ACOT4
6 myristoyl-CoA hydrolase activity GO:0102991 8.96 ACOT2 ACOT4
7 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 8.62 PSEN1 PSEN2
8 protein binding GO:0005515 10.24 ACOT2 APP EBNA1BP2 EIF2B2 HFE MLH3

Sources for Early-Onset Familial Alzheimer Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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