EOFAD
MCID: ERL006
MIFTS: 37

Early-Onset Familial Alzheimer Disease (EOFAD) malady

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

Aliases & Classifications for Early-Onset Familial Alzheimer Disease

Aliases & Descriptions for Early-Onset Familial Alzheimer Disease:

Name: Early-Onset Familial Alzheimer Disease 23 24 29
Eofad 23 24
Familial Presenile Dementia 24
Familial Dementia 69

Characteristics:

GeneReviews:

23
Penetrance Ad3 (psen1 mutations). penetrance is complete by age 65 years, except for occasional later onset associated with the mutations 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 alzheimer disease, type 3 and early-onset, autosomal dominant alzheimer disease. An important gene associated with Early-Onset Familial Alzheimer Disease is PSEN2 (Presenilin 2), and among its related pathways/superpathways are Neuroscience and Presenilin-Mediated Signaling. The drugs Soy Bean and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotype is behavior/neurological.

GeneReviews: NBK1236

Related Diseases for Early-Onset Familial Alzheimer Disease

Diseases in the Alzheimer Disease family:

Alzheimer Disease-4 Alzheimer Disease 17
Alzheimer Disease 12 Alzheimer Disease, Type 3
Alzheimer Disease 18 Alzheimer Disease-2
Alzheimer Disease 19, Late Onset Alzheimer Disease 16
Alzheimer's Disease 7 Alzheimer's Disease 11
Alzheimer's Disease 13 Alzheimer's Disease 14
Alzheimer's Disease 15 Early-Onset Familial Alzheimer Disease
Alzheimer Disease Type 1 Early-Onset, Autosomal Dominant Alzheimer Disease
Alzheimer Disease Risk Factor

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

(show all 27)
id Related Disease Score Top Affiliating Genes
1 alzheimer disease, type 3 11.2
2 early-onset, autosomal dominant alzheimer disease 11.0
3 alzheimer disease 10.3
4 encephalitozoonosis 10.0 APP PSEN1
5 intracranial structure hemangioma 10.0 APP PSEN1
6 primary cutaneous gamma/delta-positive t-cell lymphoma 10.0 PSEN1 PSEN2
7 limited scleroderma 10.0 APP PSEN1
8 mitochondrial dna depletion syndrome 14, cardioencephalomyopathic type 10.0 APP ITM2B
9 van maldergem syndrome 2 10.0 APP PSEN1
10 contagious pustular dermatitis 9.9 APP PSEN1
11 ectodermal dysplasia mental retardation syndactyly 9.9 APP PSEN1 PSEN2
12 pick disease 9.9 APP PSEN1 PSEN2
13 cardiomyopathy, dilated, 1v 9.9 APP PSEN1 PSEN2
14 meckel syndrome 10 9.8 APP PSEN1 PSEN2
15 coenzyme q10 deficiency, primary, 1 9.8 APP PSEN1
16 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.8 APP ITM2B PSEN1
17 substance-induced psychosis 9.8 APP PSEN1 PSEN2
18 metachromatic leukodystrophy 9.8
19 leukodystrophy 9.8
20 dementia 9.8
21 spastic paraparesis 9.8
22 spasticity 9.8
23 rieger syndrome, type 2 9.7 APP ITM2B SERPINI1
24 cardiomyopathy, dilated, 1u 9.5 APP PSEN1 PSEN2 SERPINI1
25 eumycotic mycetoma 9.4 APP ITM2B PSEN1 PSEN2 SERPINI1
26 foxp2-related speech and language disorders 9.2 APP ITM2B PSEN1 PSEN2 SERPINI1 TMED10
27 spondyloarthropathy 1 9.2 APP ITM2B PSEN1 PSEN2 SERPINI1 TMED10

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.02 APP ITM2B PSEN1 PSEN2 SERPINI1

Drugs & Therapeutics for Early-Onset Familial Alzheimer Disease

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

(show all 35)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Soy Bean Nutraceutical Phase 4
2 Immunoglobulins Phase 2, Phase 3
3 Antibodies, Monoclonal Phase 2, Phase 3
4 Antibodies Phase 2, Phase 3
5
Cetrorelix Approved, Investigational Phase 2 120287-85-6 16129715 25074887
6
Interferon beta-1a Approved, Investigational Phase 2 145258-61-3 6438354
7 Piracetam Approved Phase 2 7491-74-9
8
Rosiglitazone Approved, Investigational Phase 2 122320-73-4 77999
9 interferons Phase 2
10 Adjuvants, Immunologic Phase 2
11 Hormone Antagonists Phase 2
12 Hormones Phase 2
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
14 Anti-Infective Agents Phase 2
15 Fertility Agents Phase 2
16 Protective Agents Phase 2
17 Interferon-beta Phase 2
18 Antiviral Agents Phase 2
19 Neuroprotective Agents Phase 2
20 Nootropic Agents Phase 2
21 Etiracetam Phase 2
22 Anticonvulsants Phase 2
23 Hypoglycemic Agents Phase 2
24
Dopamine Approved 51-61-6, 62-31-7 681
25
protease inhibitors
26 Serine Proteinase Inhibitors
27 Neuroserpin
28 Neurotransmitter Agents
29 HIV Protease Inhibitors
30 Peripheral Nervous System Agents
31 Dopamine Agents
32 Autonomic Agents
33 Deoxyglucose
34 Fluorodeoxyglucose F18
35 serine Nutraceutical

Interventional clinical trials:

(show all 24)
id Name Status NCT ID Phase
1 Neptune Krill Oil (NKO™) in Early Stage Alzheimer's Disease (MNEMOSYNE) Completed NCT00867828 Phase 4
2 Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia. A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation. Active, not recruiting NCT01760005 Phase 2, Phase 3
3 A Pilot Trial of Interferon Beta-1a in Alzheimer's Disease Completed NCT01075763 Phase 2
4 Gonadotropin Releasing Hormone Antagonist in Treatment of Early-onset Severe Ovarian Hyperstimulation Syndrome Completed NCT02784457 Phase 2
5 Levetiracetam for Alzheimer's Disease-Associated Network Hyperexcitability Recruiting NCT02002819 Phase 2
6 Effects Of Rosiglitazone (Extended Release Tablets) On Cerebral Glucose Utilisation And Cognition Alzheimers Disease Terminated NCT00334568 Phase 2
7 Clinical and Genetic Study of Neurodegenerative Disorders With Cognitive Impairment Unknown status NCT00149175 Phase 1
8 Construction-LBD (Constructional Apraxia in Alzheimer's Disease (AD) and Lewy Body's Dementia (LBD)) Unknown status NCT01993628
9 Genetic Study in Young Onset Parkinson's Disease Unknown status NCT01529970
10 Effects of Transcranial Magnetic Stimulation (TMS) and Cognitive Training for Alzheimer Patients Completed NCT00909285
11 Influence of Age on Amyloid Load in Alzheimer's Disease and in Atypical Focal Cortical Alzheimer's Disease Completed NCT01095744
12 Trodat 1 SPECT and Dopamine Polymorphism Completed NCT01381302
13 Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies Completed NCT00006176
14 Early-onset and Late-onset Sporadic Alzheimer's Disease (AD) Recruiting NCT00987090
15 Early-onset Alzheimer's Disease Phenotypes: Neuropsychology and Neural Networks Recruiting NCT03153371
16 Reference Database & Longitudinal Registry of the Normal and Pathological Aging Brain Recruiting NCT02875496
17 The Interactive Physical and Cognitive Exercise System Recruiting NCT03069391
18 Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD) Recruiting NCT01353430
19 Genetics of Mendelian Forms of Young Onset Alzheimer Disease Active, not recruiting NCT01622894
20 Tau Imaging in Young Onset Dementia Active, not recruiting NCT02289118
21 Multi-modal Neuroimaging in Alzheimer's Disease Active, not recruiting NCT01554202
22 The INSIGHT-ICU Study: The Illuminating Neuropsychological Dysfunction and Systemic Inflammatory Mechanisms Gleaned After Hospitalization in Trauma-ICU Study Not yet recruiting NCT03098459
23 Sleep Apnea in Early to Mid-Stage Alzheimer's Disease Terminated NCT01400542
24 Living With Frontotemporal Dementia Terminated NCT01738386

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:

id Genetic test Affiliating Genes
1 Early-Onset Familial Alzheimer Disease 29 24 PSEN2

Anatomical Context for Early-Onset Familial Alzheimer Disease

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

39
Testes

Publications for Early-Onset Familial Alzheimer Disease

Articles related to Early-Onset Familial Alzheimer Disease:

(show all 11)
id 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
Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain. ( 11165779 )
2001
8
Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia. ( 11708991 )
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

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:

id Super pathways Score Top Affiliating Genes
1 12.07 APP PSEN1 PSEN2 TMED10
2 11.7 APP PSEN1 PSEN2
3
Show member pathways
11.25 APP PSEN1
4 11.1 APP PSEN1 PSEN2
5 10.84 PSEN1 PSEN2
6 10.79 APP PSEN1 PSEN2
7 10.21 APP PSEN1 PSEN2
8 10.02 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:

id Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.58 PSEN1 PSEN2 SERPINI1
2 Golgi membrane GO:0000139 9.56 ITM2B PSEN1 PSEN2 TMED10
3 Golgi apparatus GO:0005794 9.55 APP ITM2B PSEN1 PSEN2 TMED10
4 neuromuscular junction GO:0031594 9.46 APP PSEN1
5 rough endoplasmic reticulum GO:0005791 9.43 APP PSEN1
6 dendritic shaft GO:0043198 9.37 APP PSEN1
7 smooth endoplasmic reticulum GO:0005790 9.32 APP PSEN1
8 ciliary rootlet GO:0035253 8.96 APP PSEN1
9 gamma-secretase complex GO:0070765 8.62 PSEN1 TMED10

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.67 APP ITM2B PSEN1
2 positive regulation of catalytic activity GO:0043085 9.57 PSEN1 PSEN2
3 forebrain development GO:0030900 9.56 APP PSEN1
4 protein processing GO:0016485 9.55 PSEN1 PSEN2
5 learning or memory GO:0007611 9.54 APP PSEN1
6 Notch signaling pathway GO:0007219 9.54 APP PSEN1 PSEN2
7 neuron apoptotic process GO:0051402 9.52 APP PSEN1
8 regulation of synaptic plasticity GO:0048167 9.51 APP PSEN1
9 membrane protein ectodomain proteolysis GO:0006509 9.48 PSEN1 PSEN2
10 regulation of protein binding GO:0043393 9.46 APP PSEN1
11 Notch receptor processing GO:0007220 9.43 PSEN1 PSEN2
12 beta-amyloid metabolic process GO:0050435 9.4 PSEN1 PSEN2
13 amyloid precursor protein catabolic process GO:0042987 9.32 PSEN1 PSEN2
14 cellular response to beta-amyloid GO:1904646 9.26 APP PSEN1
15 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.16 APP PSEN1
16 astrocyte activation involved in immune response GO:0002265 8.96 APP PSEN1
17 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:

id Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase inhibitor activity GO:0004867 9.16 APP SERPINI1
2 endopeptidase activity GO:0004175 8.96 PSEN1 PSEN2
3 aspartic-type endopeptidase activity GO:0004190 8.62 PSEN1 PSEN2

Sources for Early-Onset Familial Alzheimer Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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