MCID: ERL006
MIFTS: 38

Early-Onset Familial Alzheimer Disease

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

Aliases & Classifications for Early-Onset Familial Alzheimer Disease

MalaCards integrated aliases for Early-Onset Familial Alzheimer Disease:

Name: Early-Onset Familial Alzheimer Disease 23 28
Eofad 23

Characteristics:

GeneReviews:

23
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 A-beta Signaling Pathways. The drugs Dipivefrin and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotype is normal.

GeneReviews: NBK1236

Related Diseases for Early-Onset Familial 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
Early-Onset Familial Alzheimer Disease Alzheimer Disease Type 1
Early-Onset, Autosomal Dominant Alzheimer Disease

Diseases related to Early-Onset Familial Alzheimer Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 early-onset, autosomal dominant alzheimer disease 32.2 APP PSEN1 PSEN2
2 frontotemporal dementia 28.9 APP MAPT PSEN1 PSEN2 SNCA
3 alzheimer disease 28.5 APP HFE ITM2B MAPT PSEN1 PSEN2
4 dementia 27.7 APP ITM2B MAPT PSEN1 PSEN2 SERPINI1
5 alzheimer disease 3 11.3
6 alzheimer disease 4 10.4 PSEN1 PSEN2
7 gait apraxia 10.4 APP PSEN1
8 progressive non-fluent aphasia 10.2 MAPT PSEN1
9 behavioral variant of frontotemporal dementia 10.2 MAPT PSEN1
10 kluver-bucy syndrome 10.1 APP MAPT PSEN1
11 vascular dementia 10.1 APP MAPT PSEN1
12 familial idiopathic basal ganglia calcification 10.0 APP MAPT PSEN1 PSEN2
13 alzheimer disease 2 10.0 APP MAPT PSEN1 PSEN2
14 alzheimer disease mitochondrial 10.0 APP ITM2B
15 metachromatic leukodystrophy 9.9
16 leukodystrophy 9.9
17 spastic paraparesis 9.9
18 spasticity 9.9
19 echolalia 9.8 MAPT PSEN1
20 cerebral amyloid angiopathy, itm2b-related, 1 9.8 APP ITM2B SERPINI1
21 amyloidosis 9.7 APP PSEN1 SNCA
22 cerebral amyloid angiopathy, cst3-related 9.7 APP ITM2B MAPT PSEN1
23 parkinson disease 3, autosomal dominant 9.7 MAPT SNCA
24 leukoencephalopathy, hereditary diffuse, with spheroids 9.6 APP MAPT SNCA
25 synucleinopathy 9.6 APP MAPT SNCA
26 aphasia 9.6 APP MAPT PSEN1 SNCA
27 pick disease of brain 9.6 APP MAPT PSEN1 SNCA
28 supranuclear palsy, progressive, 1 9.5 APP MAPT PSEN1 SNCA
29 dementia, lewy body 9.5 APP MAPT PSEN1 SNCA
30 disease of mental health 9.5 APP MAPT PSEN1 SNCA
31 postencephalitic parkinson disease 9.5 MAPT SNCA
32 central nervous system disease 9.5 APP MAPT PSEN1 SNCA
33 nervous system disease 9.4 APP MAPT PSEN1 PSEN2 SNCA

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.28 APP HFE MAPT NUMB PSEN1 PSEN2

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 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dipivefrin Approved Phase 4 52365-63-6 3105
2
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
3
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
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 54670067 5785
7 Xenon Phase 4
8 Dexamethasone acetate Phase 4 1177-87-3
9
Serotonin Phase 4 50-67-9 5202
10 glucocorticoids Phase 4
11
protease inhibitors Phase 4
12 Central Nervous System Depressants Phase 4,Phase 3
13 Micronutrients Phase 4
14 Serotonin Agents Phase 4
15 Serotonin Antagonists Phase 4
16 Gastrointestinal Agents Phase 4
17 Neurotransmitter Agents Phase 4
18 Trace Elements Phase 4
19 Tranquilizing Agents Phase 4
20 HIV Protease Inhibitors Phase 4
21 Anesthetics Phase 4,Phase 3
22 Hormone Antagonists Phase 4
23 Dermatologic Agents Phase 4,Phase 3
24 Anesthetics, General Phase 4
25 Anesthetics, Inhalation Phase 4
26 Hormones Phase 4
27 Vitamins Phase 4
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
29 Anti-Anxiety Agents Phase 4
30 Peripheral Nervous System Agents Phase 4,Phase 3
31 Antiemetics Phase 4
32 Platelet Aggregation Inhibitors Phase 4
33 Anti-Inflammatory Agents Phase 4
34 Protective Agents Phase 4
35 Psychotropic Drugs Phase 4
36 Antineoplastic Agents, Hormonal Phase 4
37 Antipruritics Phase 4
38 Antipsychotic Agents Phase 4
39 Antioxidants Phase 4
40 BB 1101 Phase 4
41 Autonomic Agents Phase 4
42 Pharmaceutical Solutions Phase 4
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
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
47
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
48 tannic acid Approved, Nutraceutical Phase 3
49 Sodium Channel Blockers Phase 3
50 Anesthetics, Local Phase 3

Interventional clinical trials:

(show all 43)

# 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 Study of Baricitinib (LY3009104) in Adults With Moderate to Severe Atopic Dermatitis Recruiting NCT03334396 Phase 3 Baricitinib;Placebo
16 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 Not yet recruiting NCT03428100 Phase 3 Baricitinib;Placebo;Topical corticosteroid
17 A Study of Long-term Baricitinib (LY3009104) Therapy in Atopic Dermatitis Not yet recruiting NCT03334435 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 A Phase 1 Ascending Dose Study to Assess the Safety and Immunogenicity of Adenovirus Anthrax Vector Candidate Vaccines Unknown status NCT01979406 Phase 1
21 Intranasal AD4-H5-VTN as an Adenovirus Vaccine Completed NCT01806909 Phase 1
22 Safety and Immunogenicity of Replication-Competent Adenovirus 4-vectored Vaccine for Avian Influenza H5N1 Completed NCT01006798 Phase 1
23 Mechanism of Action Trial of ColoAd1 Completed NCT02053220 Phase 1
24 Safety Study of VM206RY in Subjects With Expression of HER2 in Breast Cancer Completed NCT01895491 Phase 1
25 Clinical Trial of HIV Vaccine Combinations in Healthy Men and Women Recruiting NCT03408262 Phase 1
26 Study of Safety and Immunogenicity of HIV Vaccines in Healthy Volunteers Recruiting NCT01989533 Phase 1
27 A Study to Assess the Safety, Pharmacodynamics, and Immunogenicity of PXVX0047 Recruiting NCT03160339 Phase 1
28 Single-Ascending-Dose Study of BIIB076 in Healthy Volunteers and Participants With Alzheimer's Disease Recruiting NCT03056729 Phase 1 BIIB076;Placebo
29 Experimental AD4-H5-VTN Vaccine in Healthy Volunteers Active, not recruiting NCT01443936 Phase 1
30 Study to Evaluate the Safety and Immunogenicity of Orally-administered HIV Vaccine in Healthy, HIV-uninfected Adult Participants Active, not recruiting NCT02771730 Phase 1
31 Alsertib (MLN8237) and Brentuximab Vedotin for Relapsed/Refractory CD30-Positive Lymphomas and Solid Malignancies Not yet recruiting NCT02780011 Phase 1 Brentuximab Vedotin;Alsertib
32 Visual and Economic Profits of ReSTOR® Multifocal Intraocular Lenses (IOL) on Public Health Patients in Spain Unknown status NCT01088282
33 Visual Performance of Pseudophakic Patient With Different Intraocular Lenses Unknown status NCT01763411
34 ReSTOR Natural +3.0D Study In Japan Completed NCT00758576
35 A Clinical Outcome Study of Two Multifocal Intraocular Lenses (IOL) in Cataract Patients Completed NCT01684007
36 Visual Performance of New Apodized Diffractive Multifocal IOL With Addition of Plus Three Completed NCT01027533
37 Visual Outcomes After Cataract Surgery: Multifocal AcrySof® IQ ReSTOR® Intraocular Lenses Versus Monofocal Intraocular Lenses Completed NCT01290068
38 A Comparison of Visual Function After Bilateral Implantation of Presbyopia Correcting Intraocular Lenses Completed NCT01299155
39 A Comparison of Visual Function After Bilateral Implantation of Presbyopia-Correcting Intraocular Lenses (IOLs) Completed NCT01257217
40 Effects of Visual Arts Training on Dementia Completed NCT02432222
41 Changes of Angle Kappa After Implantation of Multifocal Intraocular Lenses Completed NCT03297086
42 Utilization of Negative Pressure Suction to Reduce Aspiration in Oropharyngeal Dysphagia Recruiting NCT03368079
43 CPAP to Improve Swallow Function Post Total Laryngectomy Recruiting NCT03328702

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 28

Anatomical Context for Early-Onset Familial Alzheimer Disease

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

38
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
[Study of mutations of presenilin 1 gene in early-onset familial Alzheimers disease]. ( 24928006 )
2014
3
A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease. ( 24582897 )
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
Early-Onset Familial Alzheimer Disease ( 20301414 )
1993
11
The differential diagnosis of adult onset metachromatic leukodystrophy and early onset familial Alzheimer disease in an Alzheimer clinic population. ( 8313247 )
1993

Variations for Early-Onset Familial Alzheimer Disease

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 11.7 APP MAPT NUMB PSEN1 PSEN2 SNCA
2 11.28 APP PSEN1 PSEN2
3 10.91 APP MAPT PSEN1 PSEN2
4 10.69 APP PSEN1 PSEN2
5
Show member pathways
10.45 ACOT2 ACOT4
6 10.1 ACOT2 ACOT4
7 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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.77 MAPT PSEN1 PSEN2 SERPINI1 SNCA
2 axon GO:0030424 9.72 APP MAPT PSEN1 PSEN2 SNCA
3 cytoplasmic vesicle GO:0031410 9.7 APP HFE NUMB PSEN1 SERPINI1 TMED10
4 apical part of cell GO:0045177 9.67 APP HFE NUMB
5 neuromuscular junction GO:0031594 9.61 APP PSEN1 PSEN2
6 rough endoplasmic reticulum GO:0005791 9.58 APP PSEN1 SNCA
7 nuclear periphery GO:0034399 9.51 EBNA1BP2 MAPT
8 gamma-secretase complex GO:0070765 9.46 PSEN1 TMED10
9 dendritic shaft GO:0043198 9.43 APP PSEN1 PSEN2
10 ciliary rootlet GO:0035253 9.13 APP PSEN1 PSEN2
11 growth cone GO:0030426 9.02 APP MAPT PSEN1 PSEN2 SNCA
12 Golgi apparatus GO:0005794 10.02 APP ITM2B PSEN1 PSEN2 SNCA TMED10

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.84 APP ITM2B PSEN1 SNCA
2 Notch signaling pathway GO:0007219 9.79 APP PSEN1 PSEN2
3 forebrain development GO:0030900 9.7 APP NUMB PSEN1
4 positive regulation of protein binding GO:0032092 9.67 APP HFE PSEN1
5 regulation of protein binding GO:0043393 9.63 APP PSEN1
6 regulation of long-term neuronal synaptic plasticity GO:0048169 9.62 APP SNCA
7 membrane protein intracellular domain proteolysis GO:0031293 9.62 PSEN1 PSEN2
8 regulated exocytosis GO:0045055 9.61 TMED10 VPS41
9 Notch receptor processing GO:0007220 9.6 PSEN1 PSEN2
10 microglial cell activation GO:0001774 9.59 MAPT SNCA
11 positive regulation of receptor recycling GO:0001921 9.58 PSEN1 SNCA
12 amyloid-beta metabolic process GO:0050435 9.58 PSEN1 PSEN2
13 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process GO:2000059 9.57 HFE PSEN1
14 very long-chain fatty acid metabolic process GO:0000038 9.56 ACOT2 ACOT4
15 supramolecular fiber organization GO:0097435 9.55 MAPT SNCA
16 amyloid fibril formation GO:1990000 9.51 APP MAPT
17 amyloid precursor protein catabolic process GO:0042987 9.48 PSEN1 PSEN2
18 modulation of age-related behavioral decline GO:0090647 9.46 APP PSEN1
19 neuron projection maintenance GO:1990535 9.43 APP PSEN1
20 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.4 APP PSEN1
21 positive regulation of amyloid fibril formation GO:1905908 9.37 APP PSEN1
22 astrocyte activation involved in immune response GO:0002265 9.32 APP PSEN1
23 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.26 APP PSEN1
24 synapse organization GO:0050808 9.26 APP MAPT PSEN1 SNCA
25 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.16 APP PSEN1
26 astrocyte activation GO:0048143 8.8 APP MAPT PSEN1

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

# Name GO ID Score Top Affiliating Genes
1 aspartic-type endopeptidase activity GO:0004190 9.4 PSEN1 PSEN2
2 acyl-CoA hydrolase activity GO:0047617 9.37 ACOT2 ACOT4
3 palmitoyl-CoA hydrolase activity GO:0016290 9.32 ACOT2 ACOT4
4 myristoyl-CoA hydrolase activity GO:0102991 9.16 ACOT2 ACOT4
5 thiolester hydrolase activity GO:0016790 8.96 ACOT2 ACOT4
6 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 8.62 PSEN1 PSEN2
7 protein binding GO:0005515 10.19 APP EBNA1BP2 EIF2B2 HFE ITM2B MAPT

Sources for Early-Onset Familial Alzheimer Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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