MCID: ERL006
MIFTS: 42

Early-Onset Familial Alzheimer Disease 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

About this section
MalaCards based summary: Early-Onset Familial Alzheimer Disease, also known as eofad, is related to hyperlipidemia type 3 and alzheimer disease, type 3. An important gene associated with Early-Onset Familial Alzheimer Disease is PSEN2 (Presenilin 2), and among its related pathways are Notch Pathway and A-beta Signaling Pathways. Affiliated tissues include bone, brain and testes, and related mouse phenotypes are no phenotypic analysis and 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 49)
idRelated DiseaseScoreTop Affiliating Genes
1hyperlipidemia type 311.2
2alzheimer disease, type 311.2
3early-onset, autosomal dominant alzheimer disease11.0
4dementia, frontotemporal10.6PSEN1, PSEN2
5enteropathy-associated t-cell lymphoma10.5APP, PSEN1, PSEN2
6chronic subinvolution of uterus10.5APOE, PSEN2
7alzheimer disease-410.5PSEN1, PSEN2
8samson viljoen syndrome10.5APOE, PSEN1, PSEN2
9intravascular angioleiomyoma10.4APOE, APP, PSEN1
10congenital hypoplastic anemia10.4APOE, PSEN1
11rheumatic disease10.4APOE, APP, PSEN1
12fus-related amyotrophic lateral sclerosis10.4MAPT, PSEN1
13alzheimer disease10.3
14mecp2-related disorders10.3MAPT, PSEN1
15postinfectious vasculitis10.3APOE, MAPT
16symbrachydactyly of hands and feet10.3MAPT, PSEN1
17testicular seminoma10.2APOE, MAPT, PSEN1
18intracranial cavernous angioma10.2MAPT, PSEN1
19nosophobia10.1APOE, MAPT, PSEN1
20allergic bronchopulmonary aspergillosis, familial10.0APOE, APP, MAPT
21anaerobic pneumonia10.0APOE, APP, MAPT, PSEN1
22polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract9.9APOE, APP, ITM2B, PSEN1
23rieger syndrome, type 29.9APP, ITM2B, SERPINI1
24adrenocortical insufficiency, without ovarian defect9.8APP, ITM2B, MAPT
25metachromatic leukodystrophy9.8
26leukodystrophy9.8
27dementia9.8
28spastic paraparesis9.8
29spasticity9.8
30atrial septal defect 99.6APP, MAPT, SNCA
31mast syndrome9.6APP, MAPT, SNCA
32anti-p200 pemphigoid9.6APOE, MAPT, SNCA
33adrenal gland pheochromocytoma9.6APP, MAPT, SNCA
34hemiplegia alterans9.5APOE, SNCA
35parkinson disease 19.5APOE, MAPT, PSEN1, SNCA
36meier-gorlin syndrome 59.5APOE, APP, MAPT, SNCA
37cardiomyopathy, dilated, 1u9.5APOE, MAPT, PSEN1, SNCA
38suppurative thyroiditis9.5MAPT, SNCA
39avoidant personality disorder9.5APOE, MAPT, PSEN1, SNCA
40gemistocytic astrocytoma9.3APOE, APP, MAPT, PSEN1, SNCA
41long qt syndrome 59.2APP, MAPT, PSEN1, SNCA
42vaginal tubular adenoma9.2APOE, APP, MAPT, PSEN1, PSEN2, SNCA
43angiomyolipoma9.2APOE, APP, MAPT, PSEN1, PSEN2, SNCA
44chronic intestinal vascular insufficiency9.2APOE, APP, MAPT, PSEN1, PSEN2, SNCA
45parkinson disease, late-onset9.1APOE, APP, MAPT, SNCA
46pick disease8.7APOE, APP, MAPT, PSEN1, PSEN2, SERPINI1
47hypersensitivity syndrome, carbamazepine-induced8.2APOE, APP, HFE, ITM2B, MAPT, PSEN1
48tinea unguium8.2APOE, APP, ITM2B, MAPT, PSEN1, PSEN2
49epidermolysis bullosa with pyloric atresia7.2ACOT2, 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 & 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:00030129.2APOE, APP, HFE, ITM2B, MAPT, SNCA
2MP:00053868.6APOE, APP, HFE, ITM2B, MAPT, NUMB
3MP:00053847.9APOE, APP, HFE, MAPT, NUMB, PSEN1
4MP:00028737.7APP, HFE, MAPT, NUMB, PSEN1, PSEN2

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 38)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Soy BeanNutraceuticalPhase 4535
2ImmunoglobulinsPhase 2, Phase 36045
3Antibodies, MonoclonalPhase 2, Phase 33795
4AntibodiesPhase 2, Phase 36045
5
Interferon beta-1aapproved, investigationalPhase 2198145258-61-36438354
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 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
7PiracetamapprovedPhase 21707491-74-9
8
PhysostigmineapprovedPhase 1, Phase 21357-47-65983
Synonyms:
(-)-physostigmine
(3aS,8aR)-1,3a,8-trimethyl-1,2,3,3a,8,8a-hexahydropyrrolo[2,3-b]indol-5-yl methylcarbamate
(3aS-cis)-1,2,3,3a,8,8a-Hexahydro-1,3a,8-trimethylpyrrolo(2,3-b)indol-5-ol methylcarbamate (ester)
1,2,3,3abeta,8abeta-Hexahydro-1,3a,8-trimethylpyrrolo(2,3-b)-indol-5-yl methylcarbamate
45710_FLUKA
50975-37-6
511-49-9
57-47-6
AC-15983
AC1L1LJL
ACon1_000097
Antilirium
BPBio1_000388
BRD-K25650355-001-02-5
BRD-K25650355-059-02-3
BSPBio_000352
BSPBio_002189
C06535
CCRIS 3422
CHEBI:27953
CHEMBL94
CID5983
CPD-12048
CS 58525
Calabarine
Carbamic acid, methyl-, ester with eseroline
D00196
D010830
DB00981
DivK1c_006477
E 8375
E8375_SIGMA
EINECS 200-332-8
EU-0100483
Erserine
Eserine
Eserine (TN)
Eserine Sulfate
Eserine sulfate
Eserolein, Methylcarbamate
Eserolein, methylcarbamate
Eserolein, methylcarbamate (ester)
Esromiotin
Ezerin
Fysostigmin
Fysostigmin [Czech]
HMS1921G06
HMS2089M11
HSDB 3161
KBio1_001421
KBio2_001396
KBio2_002278
KBio2_003964
KBio2_004846
KBio2_006532
KBio2_007414
KBio3_001689
KBio3_001842
 
KBioGR_001433
KBioGR_002061
KBioGR_002533
KBioSS_001396
KBioSS_002279
LS-109562
Lopac0_000483
MCV 4484
MEGxp0_001872
MLS001304022
Methyl-carbamic acid, ester with eseroline
MolPort-001-683-926
NCGC00093889-01
NCGC00093889-02
NCGC00093889-03
NCGC00093889-04
NCGC00093889-05
NCGC00093889-06
NCGC00093889-08
NIH 10421
NSC 30782
NSC30782
P0406
Physostigmine
Physostigmine (USP)
Physostigmine [USAN:BAN]
Physostol
Prestwick0_000566
Prestwick1_000566
Prestwick2_000566
Prestwick3_000566
Pyrrolo(2,3-b)indol-5-ol, 1,2,3,3a,8,8a-hexahydro-1,3a,8-trimethyl-, methylcarbamate (ester), (3aS-cis)
RCRA waste no. P204
SDCCGMLS-0066585.P001
SMR000718753
SPBio_000339
SPBio_000774
SPBio_001285
SPBio_002571
SPECTRUM1500753
STOCK1N-03554
SpecPlus_000381
Spectrum2_000330
Spectrum2_000757
Spectrum2_001283
Spectrum3_000545
Spectrum3_000901
Spectrum4_000997
Spectrum4_001631
Spectrum4_001913
Spectrum5_000441
Spectrum5_000626
Spectrum5_001672
Spectrum_000916
Spectrum_001789
UNII-9U1VM840SP
WLN: T B556 EN GNTT&J B1 E1 G1 KOVM1
[(3aR,8bS)-3,4,8b-trimethyl-2,3a-dihydro-1H-pyrrolo[2,3-b]indol-7-yl] N-methylcarbamate
physostigmine
9
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
10Peripheral Nervous System AgentsPhase 1, Phase 222776
11Adjuvants, ImmunologicPhase 22484
12Protective AgentsPhase 27190
13Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 212767
14Autonomic AgentsPhase 1, Phase 29774
15HormonesPhase 213979
16Interferon-betaPhase 2280
17Anti-Infective AgentsPhase 221402
18interferonsPhase 22137
19Neurotransmitter AgentsPhase 1, Phase 217734
20Hormone AntagonistsPhase 212778
21Fertility AgentsPhase 2493
22Antiviral AgentsPhase 29732
23Nootropic AgentsPhase 2701
24EtiracetamPhase 2200
25AnticonvulsantsPhase 22620
26Neuroprotective AgentsPhase 21672
27Cholinesterase InhibitorsPhase 1, Phase 2570
28Cholinergic AgentsPhase 1, Phase 23846
29Hypoglycemic AgentsPhase 25733
30
Dopamineapproved375951-61-6, 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
31Serine Proteinase Inhibitors850
32
protease inhibitors5320
Synonyms:
 
protease inhibitors
33Dopamine Agents3759
34Neuroserpin3
35HIV Protease Inhibitors5319
36Fluorodeoxyglucose F18392
37Deoxyglucose120
38serineNutraceutical921

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 ImpairmentUnknown statusNCT00149175Phase 1
9Construction-LBD (Constructional Apraxia in Alzheimer's Disease (AD) and Lewy Body's Dementia (LBD))Unknown statusNCT01993628
10Genetic Study in Young Onset Parkinson's DiseaseUnknown statusNCT01529970
11Effects of Transcranial Magnetic Stimulation (TMS) and Cognitive Training for Alzheimer PatientsCompletedNCT00909285
12Influence of Age on Amyloid Load in Alzheimer's Disease and in Atypical Focal Cortical Alzheimer's DiseaseCompletedNCT01095744
13Trodat 1 SPECT and Dopamine PolymorphismCompletedNCT01381302
14Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion BodiesCompletedNCT00006176
15Early-onset and Late-onset Sporadic Alzheimer's Disease (AD)RecruitingNCT00987090
16Reference Database & Longitudinal Registry of the Normal and Pathological Aging BrainRecruitingNCT02875496
17Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)RecruitingNCT01353430
18Genetics of Mendelian Forms of Young Onset Alzheimer DiseaseActive, not recruitingNCT01622894
19Tau Imaging in Young Onset DementiaActive, not recruitingNCT02289118
20Multi-modal Neuroimaging in Alzheimer's DiseaseActive, not recruitingNCT01554202
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

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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
Bone, Brain, 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
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

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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:003525310.8APP, PSEN1
2gamma-secretase complexGO:007076510.8PSEN1, TMED10
3apical part of cellGO:004517710.4APP, HFE, NUMB
4axonGO:003042410.0APP, MAPT, PSEN1, SNCA
5nuclear peripheryGO:00343999.9EBNA1BP2, MAPT
6growth coneGO:00304269.8APP, MAPT, PSEN1, SNCA
7rough endoplasmic reticulumGO:00057919.7APP, PSEN1, SNCA
8early endosomeGO:00057699.5APOE, HFE, NUMB, VPS41
9Golgi apparatusGO:00057949.4APOE, APP, ITM2B, PSEN1, PSEN2, SNCA

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1amyloid precursor protein catabolic processGO:004298710.8PSEN1, PSEN2
2beta-amyloid metabolic processGO:005043510.8PSEN1, PSEN2
3membrane protein ectodomain proteolysisGO:000650910.7PSEN1, PSEN2
4Notch receptor processingGO:000722010.7PSEN1, PSEN2
5regulation of epidermal growth factor-activated receptor activityGO:000717610.7APP, PSEN1
6negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic processGO:200005910.7HFE, PSEN1
7regulation of protein bindingGO:004339310.6APP, PSEN1
8axo-dendritic transportGO:000808810.5APP, MAPT
9positive regulation of receptor recyclingGO:000192110.5PSEN1, SNCA
10Notch signaling pathwayGO:000721910.5APP, PSEN1, PSEN2
11forebrain developmentGO:003090010.4APP, NUMB, PSEN1
12regulation of neuronal synaptic plasticityGO:004816810.4APOE, SNCA
13smooth endoplasmic reticulum calcium ion homeostasisGO:005156310.4APP, PSEN1
14acyl-CoA metabolic processGO:000663710.3ACOT2, ACOT4
15long-chain fatty acid metabolic processGO:000167610.2ACOT2, ACOT4
16axonogenesisGO:000740910.2APP, MAPT, NUMB
17cellular protein metabolic processGO:004426710.1APP, ITM2B, PSEN1, SNCA
18response to oxidative stressGO:000697910.1APOE, APP, PSEN1
19regulated exocytosisGO:004505510.0TMED10, VPS41
20very long-chain fatty acid metabolic processGO:00000389.6ACOT2, ACOT4

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

idNameGO IDScoreTop Affiliating Genes
1aspartic-type endopeptidase activityGO:000419010.5PSEN1, PSEN2
2lipoprotein particle bindingGO:007181310.1APOE, MAPT
3acyl-CoA hydrolase activityGO:004761710.1ACOT2, ACOT4
4palmitoyl-CoA hydrolase activityGO:00162909.9ACOT2, ACOT4
5tau protein bindingGO:00481569.8APOE, SNCA

Sources for Early-Onset Familial Alzheimer Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
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30ICD10
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