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

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Aliases & Descriptions for Early-Onset Familial Alzheimer Disease:

Name: Early-Onset Familial Alzheimer Disease 23 24 27
Eofad 23 24
 
Familial Presenile Dementia 24
Familial Dementia 68

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

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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 are Notch Pathway and Canonical and Non-canonical Notch signaling. Affiliated tissues include testes, and related mouse phenotype behavior/neurological.

GeneReviews for NBK1236

Related Diseases for Early-Onset Familial Alzheimer Disease

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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)
idRelated DiseaseScoreTop Affiliating Genes
1alzheimer disease, type 311.2
2early-onset, autosomal dominant alzheimer disease11.0
3alzheimer disease10.3
4encephalitozoonosis10.0APP, PSEN1
5intracranial structure hemangioma10.0APP, PSEN1
6primary cutaneous gamma/delta-positive t-cell lymphoma10.0PSEN1, PSEN2
7limited scleroderma10.0APP, PSEN1
8mitochondrial dna depletion syndrome 14, cardioencephalomyopathic type10.0APP, ITM2B
9van maldergem syndrome 210.0APP, PSEN1
10contagious pustular dermatitis9.9APP, PSEN1
11ectodermal dysplasia mental retardation syndactyly9.9APP, PSEN1, PSEN2
12pick disease9.9APP, PSEN1, PSEN2
13cardiomyopathy, dilated, 1v9.9APP, PSEN1, PSEN2
14meckel syndrome 109.8APP, PSEN1, PSEN2
15coenzyme q10 deficiency, primary, 19.8APP, PSEN1
16polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract9.8APP, ITM2B, PSEN1
17substance-induced psychosis9.8APP, PSEN1, PSEN2
18metachromatic leukodystrophy9.8
19leukodystrophy9.8
20dementia9.8
21spastic paraparesis9.8
22spasticity9.8
23rieger syndrome, type 29.7APP, ITM2B, SERPINI1
24cardiomyopathy, dilated, 1u9.5APP, PSEN1, PSEN2, SERPINI1
25eumycotic mycetoma9.4APP, ITM2B, PSEN1, PSEN2, SERPINI1
26foxp2-related speech and language disorders9.2APP, ITM2B, PSEN1, PSEN2, SERPINI1, TMED10
27spondyloarthropathy 19.2APP, 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

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MGI Mouse Phenotypes related to Early-Onset Familial Alzheimer Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.9APP, ITM2B, PSEN1, PSEN2, SERPINI1

Drugs & Therapeutics for Early-Onset Familial Alzheimer Disease

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

(show all 35)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Soy BeanNutraceuticalPhase 4554
2AntibodiesPhase 2, Phase 36394
3ImmunoglobulinsPhase 2, Phase 36394
4Antibodies, MonoclonalPhase 2, Phase 34039
5
Interferon beta-1aapproved, investigationalPhase 2200145258-61-36438354
Synonyms:
145258-61-3
Avonex
Avonex (TN)
Belerofon
D04554
 
Fibroblast interferon
IFN-beta
Interferon beta precursor
Interferon beta-1a
Interferon beta-1a (USAN)
Interferon beta-1a (genetical recombination)
Interferon beta-1a (genetical recombination) (JAN)
6
Cetrorelixapproved, investigationalPhase 265120287-85-616129715, 25074887
Synonyms:
120287-85-6
Ac-D-Nal(2)-D-Phe(pCl)-D-Pal(3)-Ser-Tyr-D-Cit-Leu-Arg-Pro-D-Ala-NH2
CHEBI:59224
CHEMBL1200490
Cetrorelix
Cetrorelix (INN)
Cetrorelixum
 
Cetrorelixum [INN-Latin]
Cetrotide (TN)
D07665
HS-2008
N-acetyl-3-(2-naphthyl)-D-alanyl-4-chloro-D-phenylalanyl-3-(3-pyridyl)-D-alanyl-L-seryl-L-tyrosyl-N5-carbomoyl-D-ornithyl-L-leucyl-L-prolyl-D-alaninamide
N-acetyl-3-(naphthalen-2-yl)-D-alanyl-4-chloro-D-phenylalanyl-3-(pyridin-3-yl)-D-alanyl-L-seryl-L-tyrosyl-N(5)-carbamoyl-D-ornithyl-L-leucyl-L-arginyl-L-prolyl-D-alaninamide
SB 75
SB-75
7PiracetamapprovedPhase 21757491-74-9
8
Rosiglitazoneapproved, investigationalPhase 2220122320-73-477999
Synonyms:
(RS)-5-{4-[2-(Methyl-2-pyridylamino)ethoxy]benzyl}-2,4-thiazolidinedion
(±)-5-[p-[2-(methyl-2-pyridylamino)ethoxy]benzyl]-2,4-thiazolidinedione
122320-73-4
2,4-Thiazolidinedione, 5-[[4-[2-(methyl-2-pyridinylamino)ethoxy]phenyl]methyl]- (9CI)
5-((4-(2-(methyl-2-pyridinylamino)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
5-((4-(2-Methyl-2-(pyridinylamino)ethoxy)phenyl)methyl)-2,4-thiazolidinedione-2-butenedioate
5-(4-{2-[methyl(pyridin-2-yl)amino]ethoxy}benzyl)-1,3-thiazolidine-2,4-dione
5-[4-[2-(N-Methyl-N-(2-pyridyl)amino)ethoxy]benzyl]thiazolidine-2,4-dione
5-[[4-[2-(methyl-(2-pyridyl)amino)ethoxy]phenyl]methyl] thiazolidine-2,4-dione
5-[[4-[2-[methyl(pyridin-2-yl)amino]ethoxy]phenyl]methyl]-1,3-thiazolidine-2,4-dione
AC-3459
AC1L2U9N
Avandia
BRD-A97437073-001-02-3
BRD-A97437073-001-03-1
BRL49653
BSPBio_002693
Brl 49653
Brl-49653
C18H19N3O3S
CID77999
D08491
DB00412
Gaudil
Gaudil (TN)
HMS1922J11
HMS2094O13
HSDB 7555
I06-0141
IDMB (1uM BRL49653, 1uM Dexamethasone, 0.5uM IBMX, 10ug/mL Insulin)
KBio2_002183
KBio2_004751
KBio2_007319
KBio3_001913
 
KBioGR_001609
KBioSS_002183
LS-151340
MolPort-002-508-212
NCGC00095124-01
NCGC00095124-02
NCGC00095124-03
RGZ
RSG
Rosi
Rosigilitazone
Rosigliazone maleate
Rosiglitazon
Rosiglitazona
Rosiglitazone
Rosiglitazone (INN)
Rosiglitazone [INN:BAN]
Rosiglitazone maleate
Rosiglitazonum
Rosiglizole
S00306
SPBio_001142
SPECTRUM1504263
STOCK6S-23924
Spectrum2_001241
Spectrum3_000997
Spectrum4_001125
Spectrum5_001464
Spectrum_001703
TDZ 01
UNII-05V02F2KDG
[3H]rosiglitazone
rosiglitazona
rosiglitazone
rosiglitazone (Avandia)
rosiglitazonum
9HormonesPhase 214415
10Protective AgentsPhase 27443
11Hormone AntagonistsPhase 213180
12Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 213168
13Interferon-betaPhase 2284
14Adjuvants, ImmunologicPhase 22554
15Anti-Infective AgentsPhase 222062
16Antiviral AgentsPhase 29967
17interferonsPhase 22175
18Fertility AgentsPhase 2505
19Neuroprotective AgentsPhase 21716
20Nootropic AgentsPhase 2716
21EtiracetamPhase 2207
22AnticonvulsantsPhase 22695
23Hypoglycemic AgentsPhase 25896
24
Dopamineapproved383651-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
25Neuroserpin3
26Serine Proteinase Inhibitors878
27HIV Protease Inhibitors5470
28
protease inhibitors5471
Synonyms:
 
protease inhibitors
29Neurotransmitter Agents18340
30Autonomic Agents10150
31Peripheral Nervous System Agents23689
32Dopamine Agents3836
33Deoxyglucose123
34Fluorodeoxyglucose F18412
35serineNutraceutical954

Interventional clinical trials:

(show all 24)
idNameStatusNCT IDPhase
1Neptune Krill Oil (NKO™) in Early Stage Alzheimer's Disease (MNEMOSYNE)CompletedNCT00867828Phase 4
2Dominantly 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 recruitingNCT01760005Phase 2, Phase 3
3A Pilot Trial of Interferon Beta-1a in Alzheimer's DiseaseCompletedNCT01075763Phase 2
4Gonadotropin Releasing Hormone Antagonist in Treatment of Early-onset Severe Ovarian Hyperstimulation SyndromeCompletedNCT02784457Phase 2
5Levetiracetam for Alzheimer's Disease-Associated Network HyperexcitabilityRecruitingNCT02002819Phase 2
6Effects Of Rosiglitazone (Extended Release Tablets) On Cerebral Glucose Utilisation And Cognition Alzheimers DiseaseTerminatedNCT00334568Phase 2
7Clinical and Genetic Study of Neurodegenerative Disorders With Cognitive ImpairmentUnknown statusNCT00149175Phase 1
8Construction-LBD (Constructional Apraxia in Alzheimer's Disease (AD) and Lewy Body's Dementia (LBD))Unknown statusNCT01993628
9Genetic Study in Young Onset Parkinson's DiseaseUnknown statusNCT01529970
10Effects of Transcranial Magnetic Stimulation (TMS) and Cognitive Training for Alzheimer PatientsCompletedNCT00909285
11Influence of Age on Amyloid Load in Alzheimer's Disease and in Atypical Focal Cortical Alzheimer's DiseaseCompletedNCT01095744
12Trodat 1 SPECT and Dopamine PolymorphismCompletedNCT01381302
13Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion BodiesCompletedNCT00006176
14Early-onset and Late-onset Sporadic Alzheimer's Disease (AD)RecruitingNCT00987090
15Early-onset Alzheimer's Disease Phenotypes: Neuropsychology and Neural NetworksRecruitingNCT03153371
16Reference Database & Longitudinal Registry of the Normal and Pathological Aging BrainRecruitingNCT02875496
17The Interactive Physical and Cognitive Exercise SystemRecruitingNCT03069391
18Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)RecruitingNCT01353430
19Genetics of Mendelian Forms of Young Onset Alzheimer DiseaseActive, not recruitingNCT01622894
20Tau Imaging in Young Onset DementiaActive, not recruitingNCT02289118
21Multi-modal Neuroimaging in Alzheimer's DiseaseActive, not recruitingNCT01554202
22The INSIGHT-ICU Study: The Illuminating Neuropsychological Dysfunction and Systemic Inflammatory Mechanisms Gleaned After Hospitalization in Trauma-ICU StudyNot yet recruitingNCT03098459
23Sleep Apnea in Early to Mid-Stage Alzheimer's DiseaseTerminatedNCT01400542
24Living With Frontotemporal DementiaTerminatedNCT01738386

Search NIH Clinical Center for Early-Onset Familial Alzheimer Disease

Genetic Tests for Early-Onset Familial Alzheimer Disease

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Genetic tests related to Early-Onset Familial Alzheimer Disease:

id Genetic test Affiliating Genes
1 Early-Onset Familial Alzheimer Disease27 24 PSEN2

Anatomical Context for Early-Onset Familial Alzheimer Disease

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

36
Testes

Publications for Early-Onset Familial Alzheimer Disease

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Articles related to Early-Onset Familial Alzheimer Disease:

(show all 11)
idTitleAuthorsYear
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

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Expression for genes affiliated with Early-Onset Familial Alzheimer Disease

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

Pathways for genes affiliated with Early-Onset Familial Alzheimer Disease

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GO Terms for genes affiliated with Early-Onset Familial Alzheimer Disease

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

idNameGO IDScoreTop Affiliating Genes
1ciliary rootletGO:003525310.2APP, PSEN1
2dendritic shaftGO:004319810.2APP, PSEN1
3neuromuscular junctionGO:003159410.1APP, PSEN1
4gamma-secretase complexGO:00707659.9PSEN1, TMED10
5rough endoplasmic reticulumGO:00057919.9APP, PSEN1
6smooth endoplasmic reticulumGO:00057909.5APP, PSEN1
7neuronal cell bodyGO:00430259.5PSEN1, PSEN2, SERPINI1
8Golgi membraneGO:00001398.9ITM2B, PSEN1, PSEN2, TMED10
9Golgi apparatusGO:00057948.4APP, ITM2B, PSEN1, PSEN2, TMED10

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1amyloid precursor protein catabolic processGO:004298710.3PSEN1, PSEN2
2beta-amyloid metabolic processGO:005043510.3PSEN1, PSEN2
3membrane protein ectodomain proteolysisGO:000650910.2PSEN1, PSEN2
4Notch receptor processingGO:000722010.2PSEN1, PSEN2
5astrocyte activation involved in immune responseGO:000226510.2APP, PSEN1
6positive regulation of catalytic activityGO:004308510.2PSEN1, PSEN2
7cellular response to beta-amyloidGO:190464610.2APP, PSEN1
8forebrain developmentGO:003090010.1APP, PSEN1
9learning or memoryGO:000761110.1APP, PSEN1
10neuron apoptotic processGO:005140210.1APP, PSEN1
11protein processingGO:001648510.1PSEN1, PSEN2
12regulation of epidermal growth factor-activated receptor activityGO:000717610.0APP, PSEN1
13regulation of protein bindingGO:00433939.9APP, PSEN1
14Notch signaling pathwayGO:00072199.7APP, PSEN1, PSEN2
15cellular protein metabolic processGO:00442679.6APP, ITM2B, PSEN1
16smooth endoplasmic reticulum calcium ion homeostasisGO:00515639.5APP, PSEN1
17regulation of synaptic plasticityGO:00481679.4APP, PSEN1

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

idNameGO IDScoreTop Affiliating Genes
1aspartic-type endopeptidase activityGO:000419010.2PSEN1, PSEN2
2endopeptidase activityGO:000417510.1PSEN1, PSEN2
3serine-type endopeptidase inhibitor activityGO:00048679.3APP, SERPINI1

Sources for Early-Onset Familial Alzheimer Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet