MCID: ERL006
MIFTS: 36

Early-Onset Familial Alzheimer Disease malady

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

Aliases & Classifications for Early-Onset Familial Alzheimer Disease

About this section

Aliases & Descriptions for Early-Onset Familial Alzheimer Disease:

Name: Early-Onset Familial Alzheimer Disease 22 23 25
Eofad 22 23
 
Familial Presenile Dementia 23
Familial Dementia 66

Classifications:



Summaries for Early-Onset Familial Alzheimer Disease

About this section
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 Presenilin-Mediated Signaling. Affiliated tissues include bone, brain and testes.

GeneReviews summary for NBK1236

Related Diseases for Early-Onset Familial Alzheimer Disease

About this section

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
early-onset familial alzheimer disease Early-Onset, Autosomal Dominant Alzheimer Disease
Late-Onset Familial Alzheimer Disease Alzheimer Disease Risk Factor
Alzheimer Disease Type 1

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

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1alzheimer disease, type 311.3
2early-onset, autosomal dominant alzheimer disease11.1
3dementia, frontotemporal10.6PSEN1, PSEN2
4alzheimer disease-410.5PSEN1, PSEN2
5enteropathy-associated t-cell lymphoma10.5APP, PSEN1, PSEN2
6alzheimer disease10.4
7apraxia10.4PSEN1, PSEN2
8hyperlipidemia type 310.3
9chronic subinvolution of uterus10.2APOE, PSEN2
10congenital hypoplastic anemia10.1APOE, PSEN1
11samson viljoen syndrome10.1APOE, PSEN1, PSEN2
12intravascular angioleiomyoma10.1APOE, APP, PSEN1
13testicular seminoma10.1APOE, PSEN1
14rheumatic disease10.0APOE, APP, PSEN1
15anaerobic pneumonia10.0APOE, APP, PSEN1
16polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.0APOE, APP, PSEN1
17metachromatic leukodystrophy9.9
18leukodystrophy9.9
19dementia9.9
20spastic paraparesis9.9
21spasticity9.9
22retinal arteries, tortuosity of9.9APOE, APP
23pick disease9.8APOE, APP, PSEN1, PSEN2
24vaginal tubular adenoma9.8APOE, APP, PSEN1, PSEN2
25angiomyolipoma9.8APOE, APP, PSEN1, PSEN2
26chronic intestinal vascular insufficiency9.8APOE, APP, PSEN1, PSEN2
27tinea unguium9.8APOE, APP, PSEN1, PSEN2
28gemistocytic astrocytoma9.8APOE, APP, PSEN1
29interstitial cystitis9.7APOE, PSEN2
30hypersensitivity syndrome, carbamazepine-induced9.2APOE, APP, HFE, PSEN1, PSEN2, TMED10
31epidermolysis bullosa with pyloric atresia5.1ACOT2, ACOT4, APOE, APP, EBNA1BP2, EIF2B2

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



Diseases related to early-onset familial alzheimer disease

Symptoms for Early-Onset Familial Alzheimer Disease

About this section

Drugs & Therapeutics for Early-Onset Familial Alzheimer Disease

About this section

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CetrorelixPhase 263120287-85-616129715, 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
2interferonsPhase 22112
3
Interferon beta-1aPhase 2195145258-61-36438354
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)
4PiracetamPhase 21687491-74-9
5
RosiglitazonePhase 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
6
Dopamine367851-61-6, 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
7
protease inhibitors5157
Synonyms:
 
protease inhibitors
8serineNutraceutical883

Interventional clinical trials:

(show all 22)
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
6Safety, Tolerability, PK and PD of Posiphen® in Subjects With Early Alzheimer's DiseaseNot yet recruitingNCT02925650Phase 1, Phase 2
7Effects Of Rosiglitazone (Extended Release Tablets) On Cerebral Glucose Utilisation And Cognition Alzheimers DiseaseTerminatedNCT00334568Phase 2
8Clinical and Genetic Study of Neurodegenerative Disorders With Cognitive ImpairmentRecruitingNCT00149175Phase 1
9Influence of Age on Amyloid Load in Alzheimer's Disease and in Atypical Focal Cortical Alzheimer's DiseaseCompletedNCT01095744
10Effects of Transcranial Magnetic Stimulation (TMS) and Cognitive Training for Alzheimer PatientsCompletedNCT00909285
11Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion BodiesCompletedNCT00006176
12Trodat 1 SPECT and Dopamine PolymorphismCompletedNCT01381302
13Early-onset and Late-onset Sporadic Alzheimer's Disease (AD)RecruitingNCT00987090
14Reference Database & Longitudinal Registry of the Normal and Pathological Aging BrainRecruitingNCT02875496
15Construction-LBD (Constructional Apraxia in Alzheimer's Disease (AD) and Lewy Body's Dementia (LBD))RecruitingNCT01993628
16Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)RecruitingNCT01353430
17Multi-modal Neuroimaging in Alzheimer's DiseaseActive, not recruitingNCT01554202
18Tau Imaging in Young Onset DementiaActive, not recruitingNCT02289118
19Genetics of Mendelian Forms of Young Onset Alzheimer DiseaseActive, not recruitingNCT01622894
20Genetic Study in Young Onset Parkinson's DiseaseActive, not recruitingNCT01529970
21Sleep Apnea in Early to Mid-Stage Alzheimer's DiseaseTerminatedNCT01400542
22Living With Frontotemporal DementiaTerminatedNCT01738386

Search NIH Clinical Center for Early-Onset Familial Alzheimer Disease

Genetic Tests for Early-Onset Familial Alzheimer Disease

About this section

Genetic tests related to Early-Onset Familial Alzheimer Disease:

id Genetic test Affiliating Genes
1 Early-Onset Familial Alzheimer Disease25 23 PSEN2

Anatomical Context for Early-Onset Familial Alzheimer Disease

About this section

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

34
Bone, Brain, Testes

Animal Models for Early-Onset Familial Alzheimer Disease or affiliated genes

About this section

Publications for Early-Onset Familial Alzheimer Disease

About this section

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
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
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

About this section

Expression for genes affiliated with Early-Onset Familial Alzheimer Disease

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

Pathways for genes affiliated with Early-Onset Familial Alzheimer Disease

About this section

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1gamma-secretase complexGO:007076510.6PSEN1, TMED10
2ciliary rootletGO:003525310.5APP, PSEN1
3smooth endoplasmic reticulumGO:000579010.2APP, PSEN1
4apical part of cellGO:00451779.6APP, HFE, NUMB
5cytoplasmic vesicleGO:00314109.6APP, HFE, PSEN1
6early endosomeGO:00057699.2APOE, HFE, NUMB, VPS41
7Golgi apparatusGO:00057948.9APOE, APP, PSEN1, PSEN2, TMED10

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1smooth endoplasmic reticulum calcium ion homeostasisGO:005156310.5APP, PSEN1
2regulation of epidermal growth factor-activated receptor activityGO:000717610.5APP, PSEN1
3beta-amyloid metabolic processGO:005043510.5PSEN1, PSEN2
4regulation of protein bindingGO:004339310.4APP, PSEN1
5negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic processGO:200005910.4HFE, PSEN1
6membrane protein ectodomain proteolysisGO:000650910.3PSEN1, PSEN2
7amyloid precursor protein catabolic processGO:004298710.3PSEN1, PSEN2
8positive regulation of dendritic spine developmentGO:006099910.3APOE, PSEN1
9Notch receptor processingGO:000722010.1PSEN1, PSEN2
10response to oxidative stressGO:00069799.9APOE, APP, PSEN1
11Notch signaling pathwayGO:00072199.8APP, PSEN1, PSEN2
12forebrain developmentGO:00309009.7APP, NUMB, PSEN1
13acyl-CoA metabolic processGO:00066379.7ACOT2, ACOT4
14long-chain fatty acid metabolic processGO:00016769.6ACOT2, ACOT4
15very long-chain fatty acid metabolic processGO:00000389.6ACOT2, ACOT4
16regulated exocytosisGO:00450559.3TMED10, VPS41

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

idNameGO IDScoreTop Affiliating Genes
1aspartic-type endopeptidase activityGO:000419010.3PSEN1, PSEN2
2cadherin bindingGO:004529610.2NUMB, PSEN1
3acyl-CoA hydrolase activityGO:00476179.8ACOT2, ACOT4
4palmitoyl-CoA hydrolase activityGO:00162909.7ACOT2, ACOT4
5receptor bindingGO:00051028.7ACOT2, ACOT4, APP, HFE

Sources for Early-Onset Familial Alzheimer Disease

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet