MCID: ERL029
MIFTS: 42

Early-Onset, Autosomal Dominant Alzheimer Disease

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

Aliases & Classifications for Early-Onset, Autosomal Dominant Alzheimer Disease

MalaCards integrated aliases for Early-Onset, Autosomal Dominant Alzheimer Disease:

Name: Early-Onset, Autosomal Dominant Alzheimer Disease 49
Familial Alzheimer Disease 49 55 69
Early-Onset Familial Autosomal Dominant Alzheimer Disease 49 55
Early-Onset Autosomal Dominant Alzheimer Disease 49 55
Eofad 49 55
Alzheimer Disease Familial 28
Fad 49

Characteristics:

Orphanet epidemiological data:

55
early-onset autosomal dominant alzheimer disease
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Early-Onset, Autosomal Dominant Alzheimer Disease

NIH Rare Diseases : 49 Early-onset, autosomal dominant Alzheimer disease is a form of Alzheimer disease (AD) that develops before the age of 65. It is diagnosed in families that have more than one member with AD (usually multiple persons in more than one generation) in which the age of onset is consistently before age 60 and often between the ages of 30 and 60 years. In general, AD is a degenerative disease of the brain that causes gradual loss of memory, judgement, and the ability to function socially.  There are three subtypes of early-onset familial AD which are each associated with changes (mutations) in unique genes: (1) Alzheimer disease, type 1 is caused by mutations in the APP gene (2) Alzheimer disease, type 3 is caused by mutations in the PSEN1 gene      (3) Alzheimer disease, type 4 is caused by mutations in the PSEN2 gene.  All subtypes are inherited in an autosomal dominant manner. There is no cure for AD. Treatment is supportive and based on the signs and symptoms present in each person.   Last updated: 5/5/2017

MalaCards based summary : Early-Onset, Autosomal Dominant Alzheimer Disease, also known as familial alzheimer disease, is related to early-onset familial alzheimer disease and alzheimer disease, and has symptoms including agitation, hallucinations and seizures. An important gene associated with Early-Onset, Autosomal Dominant Alzheimer Disease is PSEN1 (Presenilin 1), and among its related pathways/superpathways are Presenilin-Mediated Signaling and Neuroscience. The drugs Dopamine and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotype is cardiovascular system.

Related Diseases for Early-Onset, Autosomal Dominant 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, Autosomal Dominant Alzheimer Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 early-onset familial alzheimer disease 31.3 APP PSEN1 PSEN2
2 alzheimer disease 28.7 ABCA7 APP PSEN1 PSEN2 SORL1
3 alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology 12.0
4 alzheimer disease 4 10.2 PSEN1 PSEN2
5 visual agnosia 10.2 PSEN1 PSEN2
6 gait apraxia 10.2 APP PSEN1
7 kluver-bucy syndrome 10.2 APP PSEN1
8 familial isolated dilated cardiomyopathy 10.2 PSEN1 PSEN2
9 cerebral amyloid angiopathy, cst3-related 10.1 APP PSEN1
10 aphasia 10.1 APP PSEN1
11 pick disease of brain 10.1 APP PSEN1
12 progressive non-fluent aphasia 10.1 PSEN1 TREM2
13 behavioral variant of frontotemporal dementia 10.1 PSEN1 TREM2
14 supranuclear palsy, progressive, 1 10.1 APP PSEN1
15 vascular dementia 10.0 APP PSEN1
16 familial idiopathic basal ganglia calcification 9.9 APP PSEN1 PSEN2
17 alzheimer disease 2 9.9 APP PSEN1 PSEN2
18 nervous system disease 9.9 APP PSEN1 PSEN2
19 dementia, lewy body 9.9 APP PSEN1
20 disease of mental health 9.7 APP PSEN1
21 amyotrophic lateral sclerosis 1 9.6 APP PSEN1 TREM2
22 dementia 9.5 APP PSEN1 PSEN2 TREM2
23 frontotemporal dementia 8.5 APP PSEN1 PSEN2 SORL1 TOMM40 TREM2

Graphical network of the top 20 diseases related to Early-Onset, Autosomal Dominant Alzheimer Disease:



Diseases related to Early-Onset, Autosomal Dominant Alzheimer Disease

Symptoms & Phenotypes for Early-Onset, Autosomal Dominant Alzheimer Disease

Human phenotypes related to Early-Onset, Autosomal Dominant Alzheimer Disease:

55 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agitation 55 31 hallmark (90%) Very frequent (99-80%) HP:0000713
2 hallucinations 55 31 hallmark (90%) Very frequent (99-80%) HP:0000738
3 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
4 hypertonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001276
5 confusion 55 31 hallmark (90%) Very frequent (99-80%) HP:0001289
6 parkinsonism 55 31 hallmark (90%) Very frequent (99-80%) HP:0001300
7 myoclonus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001336
8 cerebral cortical atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0002120
9 neurofibrillary tangles 55 31 hallmark (90%) Very frequent (99-80%) HP:0002185
10 memory impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0002354
11 language impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0002463
12 deposits immunoreactive to beta-amyloid protein 55 31 hallmark (90%) Very frequent (99-80%) HP:0003791
13 abnormal social behavior 55 31 hallmark (90%) Very frequent (99-80%) HP:0012433
14 disinhibition 55 31 frequent (33%) Frequent (79-30%) HP:0000734
15 abnormality of vision 55 31 occasional (7.5%) Occasional (29-5%) HP:0000504
16 oculomotor apraxia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000657
17 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
18 ataxia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001251
19 aphasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002381
20 finger agnosia 55 31 occasional (7.5%) Occasional (29-5%) HP:0010525
21 dysgraphia 55 31 occasional (7.5%) Occasional (29-5%) HP:0010526
22 semantic dementia 55 31 occasional (7.5%) Occasional (29-5%) HP:0030219
23 dementia 55 Very frequent (99-80%)
24 neurodevelopmental abnormality 55 Very frequent (99-80%)
25 apraxia 55 Occasional (29-5%)
26 abnormality of higher mental function 55 Occasional (29-5%)

MGI Mouse Phenotypes related to Early-Onset, Autosomal Dominant Alzheimer Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.1 ABCA7 APP PSEN1 PSEN2 SORL1 TREM2

Drugs & Therapeutics for Early-Onset, Autosomal Dominant Alzheimer Disease

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

(show top 50) (show all 653)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 51-61-6, 62-31-7 681
2
Levodopa Approved Phase 4,Not Applicable 59-92-7 6047
3
Nicotine Approved Phase 4,Phase 2,Phase 1,Not Applicable 54-11-5 89594 942
4
Progesterone Approved, Vet_approved Phase 4,Phase 2,Phase 3 57-83-0 5994
5
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 1,Not Applicable 50-78-2 2244
6
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-28-2 5757
7
Ibuprofen Approved Phase 4,Phase 3,Phase 1,Early Phase 1 15687-27-1 3672
8
Metformin Approved Phase 4,Phase 2 657-24-9 4091 14219
9
Amlodipine Approved Phase 4,Phase 2,Phase 3 88150-42-9 2162
10
Clopidogrel Approved Phase 4,Phase 3,Not Applicable 120202-66-6, 113665-84-2 60606
11
Warfarin Approved Phase 4,Phase 3,Phase 1 81-81-2 54678486 6691
12
Donepezil Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 120014-06-4 3152
13
Galantamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 357-70-0 9651
14
Rivastigmine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 123441-03-2 77991
15
Huperzine A Approved, Investigational Phase 4,Phase 2,Phase 3 102518-79-6
16
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 19982-08-2 4054
17
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 106266-06-2 5073
18
Methylphenidate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 20748-11-2, 113-45-1 4158
19
Isoflurane Approved, Vet_approved Phase 4,Phase 1,Not Applicable 26675-46-7 3763
20
Citalopram Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 59729-33-8 2771
21
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 1,Not Applicable 2078-54-8 4943
22
Rivaroxaban Approved Phase 4 366789-02-8
23
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 1994-09-7, 94-09-7 2337
24
Medroxyprogesterone acetate Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 71-58-9
25
Ticagrelor Approved Phase 4,Phase 3 274693-27-5 9871419
26
Norepinephrine Approved Phase 4,Phase 1,Not Applicable 51-41-2 439260
27
Gabapentin Approved, Investigational Phase 4,Not Applicable 60142-96-3 3446
28
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
29
Pravastatin Approved Phase 4 81093-37-0 54687
30
Simvastatin Approved Phase 4,Phase 3,Phase 2,Phase 1 79902-63-9 54454
31
Verapamil Approved Phase 4,Phase 1 52-53-9 2520
32
Quinidine Approved, Investigational Phase 4,Phase 3,Phase 2 56-54-2 441074
33
Acetaminophen Approved Phase 4,Phase 3,Phase 2 103-90-2 1983
34
Prazosin Approved Phase 4,Not Applicable 19216-56-9 4893
35
Valproic Acid Approved, Investigational Phase 4,Phase 3,Early Phase 1 99-66-1 3121
36
Ramipril Approved Phase 4 87333-19-5 5362129
37
Trandolapril Approved Phase 4 87679-37-6 5484727
38
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
39
Atenolol Approved Phase 4 29122-68-7 2249
40
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
41
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-84-3 187
42
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
43
Rasagiline Approved Phase 4,Phase 2 136236-51-6 3052776
44
Cilostazol Approved, Investigational Phase 4,Phase 2 73963-72-1 2754
45
Nimodipine Approved, Investigational Phase 4 66085-59-4 4497
46
Haloperidol Approved Phase 4,Phase 3 52-86-8 3559
47
Olanzapine Approved, Investigational Phase 4,Not Applicable 132539-06-1 4585
48
Iodine Approved, Investigational Phase 4,Not Applicable 7553-56-2 807
49
Paroxetine Approved, Investigational Phase 4 61869-08-7 43815
50
Sertraline Approved Phase 4,Phase 2,Phase 3,Not Applicable 79617-96-2 68617

Interventional clinical trials:

(show top 50) (show all 2276)

# Name Status NCT ID Phase Drugs
1 Diffusion Tensor Weighted MRI in Alzheimer's Disease Modifying Treatment Effects of Galantamine (Reminyl®) Unknown status NCT00523666 Phase 4 Galantamine (Reminyl®);Placebo/Galantamine (Reminyl®)
2 Effect of Memantine Oral Pump on Language in Patients With Probable Alzheimer's Disease Unknown status NCT01849042 Phase 4 Ebixa;donepezil
3 Effect of Cognitive Intervention in Alzheimer's Disease (AD) on Functional Cortical Networks in fMRI Unknown status NCT01329601 Phase 4
4 Donepezil and Memantine in Moderate to Severe Alzheimer's Disease Unknown status NCT00866060 Phase 4 Memantine;Donepezil;Placebo donepezil;Placebo memantine
5 Open Label Trial of Rivastigmine Patch in Subjects With Mild to Moderate Stage AD Having Coexisting svCVD Unknown status NCT02444637 Phase 4 Rivastigmine
6 The Relationship Between Risperdal Treatment and Quality of Life in Patients With Alzheimer's Disease and Behavioural and Psychological Symptoms of Dementia (BPSD) Unknown status NCT00626613 Phase 4 Risperdal,reminyl
7 Study of Escitalopram Versus Placebo in the Treatment of Depressive Syndrome in Alzheimer’s Disease, Vascular Dementia, and Mixed Vascular and Alzheimer’s Dementia Unknown status NCT00229333 Phase 4 Escitalopram
8 CALM-AD Unknown status NCT00142324 Phase 4 Donepezil
9 Rivaroxaban in Patients With Atrial Fibrillation and Coronary Artery Disease Undergoing Percutaneous Coronary Intervention Unknown status NCT02334254 Phase 4 rivaroxaban and ticagrel therapy;triple antithrombotic regimen with warfarin, asipirin and clopidogrel
10 Improving Function, Quality of Life, Glycemia in Diabetics With Dementia Unknown status NCT00792662 Phase 4 Methylphenidate;Placebo
11 Dopaminergic Enhancement of Learning and Memory in Healthy Adults and Patients With Dementia/Mild Cognitive Impairment Unknown status NCT00306124 Phase 4 Levodopa
12 Pharmacodynamic Effects of Atorvastatin vs. Rosuvastatin on Platelet Reactivity Unknown status NCT01567774 Phase 4 Atorvastatin;Rosuvastatin
13 Memantine for Agitation in Dementia Unknown status NCT00371059 Phase 4 Memantine;Placebo
14 Huperzine-A to Help With Mental Problems and the Inability to Care for Onself in Patients With Schizophrenia Unknown status NCT01012830 Phase 4 Huperzine A
15 Insulin Resistance and Mild Cognitive Impairment (IRMCI) Study Unknown status NCT02409238 Phase 4 Metformin
16 Gastrodin Prevents Cognitive Decline Related to Cardiopulmonary Bypass Unknown status NCT00297245 Phase 4 cognitive function
17 Transcranial Magnetic Stimulation for Apathy in Mild Cognitive Impairment:Pilot Study Unknown status NCT02190019 Phase 4
18 Memantine for Post-Operative Pain Control Unknown status NCT01041313 Phase 4 Memantine;Placebo
19 Multi-centre Clinical Trial on Hormone Replacement Treatment in China Unknown status NCT01698164 Phase 4 estradiol plus MPA;Ximingting Tablet;estradiol plus progesterone
20 The Clinical Response of Choline Acetyltransferase and Apolipoprotein Epsilon Gene Polymorphisms to Donepezil in Alzheimer's Disease Completed NCT00381381 Phase 4 Donepezil
21 Efficacy, Safety and Tolerability of Rivastigmine Patch in Patients With Mild to Moderate Alzheimer's Disease Switched From Cholinesterase Inhibitors Completed NCT01529619 Phase 4 Rivastigmine transdermal patch
22 Compliance and Tolerability of Rivastigmine Transdermal Patch 10 cm² in Patients With Probable Alzheimer's Disease. Completed NCT00731224 Phase 4 Rivastigmine transdermal patch
23 Effects of Rivastigmine Patch on Activities of Daily Living and Cognition in Patients With Severe Dementia of the Alzheimer's Type (ACTION) (Study Protocol CENA713DUS44, NCT00948766) and a 24 Week Open-label Extension to Study CENA713DUS44 Completed NCT00948766 Phase 4 Rivastigmine 4.6 mg/24 h (5 cm^2);Rivastigmine 9.5 mg/24 h (10 cm^2);Rivastigmine 13.3 mg/24 h (15 cm^2);Placebo
24 Safety and Efficacy of Donepezil HCl 23 mg in Patients With Moderate to Severe Alzheimer's Disease Completed NCT02097056 Phase 4 Donepezil HCL
25 Tolerability of Rivastigmine Before and After Switching From Oral Formulation to Transdermal Patch in Alzheimer's Dementia Completed NCT01585272 Phase 4 ENA713
26 16w Interventional Study on Titration and Dose/Efficacy Assessment of Exelon in Chinese Alzheimer's Disease Patients Completed NCT01948791 Phase 4 ENA713
27 The Efficacy of Galantamine Treatment on Attention in Patients With Alzheimer's Disease Completed NCT01054976 Phase 4 Galantamine
28 Trial of Carvedilol in Alzheimer's Disease Completed NCT01354444 Phase 4 Carvedilol;Placebo
29 Memantine and Comprehensive, Individualized Management of Alzheimer's Disease and Caregiver Training Completed NCT00120874 Phase 4 Memantine
30 Escitalopram for the Treatment of Depression in Alzheimer's Disease Completed NCT01841125 Phase 4 escitalopram;Placebo
31 Double Blind Study of Trp01 in Patients With Alzheimer's Disease Completed NCT00202124 Phase 4 Tryptophan
32 Clinical Effectiveness of 10 cm^2 Rivastigmine Patch in Patients With Alzheimer's Disease Completed NCT00561392 Phase 4 Rivastigmine 5 and 10 cm^2 patch
33 Delaying the Progression of Driving Impairment in Individuals With Mild Alzheimer's Disease Completed NCT00476008 Phase 4 Memantine;Placebo
34 A Study of the Effects on Sleep, Attention, and Gastrointestinal Tolerance of Galantamine and Donepezil in Patients With Alzheimer's Disease Completed NCT00035204 Phase 4 galantamine
35 Neural Correlates In Mild Alzheimer's Disease Completed NCT00477659 Phase 4 donepezil HCl (Aricept)
36 Study of the Effects of Current Drug Treatments on Levels of Certain Brain Chemicals in Alzheimer's Disease Completed NCT00104442 Phase 4 Rivastigmine
37 A 12 Week, Multicenter, Open Label Evaluation of Caregiver Preference, Safety and Tolerability of Exelon® Patch (Rivastigmine Transdermal) in Patients With Alzheimer's Disease Completed NCT01047579 Phase 4 Rivastigmine transdermal
38 Evaluation of Efficacy and Safety of Galantamine in Patients With Dementia of Alzheimer's Type Who Failed to Benefit From Donepezil Completed NCT01478633 Phase 4 Galantamine
39 Effect of Memantine on Functional Communication in Patients With Alzheimer's Disease Completed NCT00469456 Phase 4 Memantine;placebo
40 A 24 Week, Multicenter, Open, Evaluation of the Clinical Effectiveness of the Once-daily 10 cm^2 Rivastigmine Patch Formulation in Patients With Probable Alzheimer's Disease (EXTRA) Completed NCT00622713 Phase 4 Rivastigmine transdermal patch
41 Neptune Krill Oil (NKO™) in Early Stage Alzheimer's Disease (MNEMOSYNE) Completed NCT00867828 Phase 4
42 Study of Memantine in Assessment of Selected Measures of Volumetric Magnetic Resonance Imaging (MRI) and Cognition in Moderate AD (Alzheimer's Disease) Completed NCT00334906 Phase 4 memantine HCl
43 EARTH 413: A Study of Aricept in Hispanic Patients With Mild to Moderate Alzheimer's Disease (AD) Completed NCT00230568 Phase 4 Aricept
44 The Efficacy of Galantamine on the Attention and the Frontal Function of the Patients With Dementia of Alzheimer Type Completed NCT00216515 Phase 4 galantamine hydrobromide
45 A Positron Emission Tomography (PET) Study Evaluating Brain Metabolism of a Medical Food in Alzheimer's Disease Completed NCT01122329 Phase 4
46 Memantine for Agitation and Aggression in Severe Alzheimer's Disease Completed NCT00401167 Phase 4 memantine
47 Magnetic Resonance Spectroscopy Study of Memantine in Alzheimer's Disease Completed NCT00551161 Phase 4 memantine
48 The Effectiveness And Safety Of Donepezil Hydrochloride (E2020) In Subjects With Mild To Severe Alzheimer's Disease Residing In An Assisted Living Facility Completed NCT00571064 Phase 4 Donepezil HCl
49 Interventional, Randomised, Double-blind, Study to Evaluate the Safety and Tolerability of Once Daily Versus Twice Daily Memantine Treatment in Patients With Dementia of Alzheimer's Type and Mini Mental State Examination (MMSE)Range 5 - 18 Completed NCT02553928 Phase 4 Memantine (once daily);Memantine (twice daily)
50 Effects of Memantine on Magnetic Resonance (MR) Spectroscopy in Subjects at Risk for Alzheimer's Disease Completed NCT00933608 Phase 4 memantine;Placebo

Search NIH Clinical Center for Early-Onset, Autosomal Dominant Alzheimer Disease

Genetic Tests for Early-Onset, Autosomal Dominant Alzheimer Disease

Genetic tests related to Early-Onset, Autosomal Dominant Alzheimer Disease:

# Genetic test Affiliating Genes
1 Alzheimer Disease Familial 28

Anatomical Context for Early-Onset, Autosomal Dominant Alzheimer Disease

MalaCards organs/tissues related to Early-Onset, Autosomal Dominant Alzheimer Disease:

38
Brain

Publications for Early-Onset, Autosomal Dominant Alzheimer Disease

Articles related to Early-Onset, Autosomal Dominant Alzheimer Disease:

# Title Authors Year
1
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. ( 10441572 )
1999

Variations for Early-Onset, Autosomal Dominant Alzheimer Disease

Expression for Early-Onset, Autosomal Dominant Alzheimer Disease

Search GEO for disease gene expression data for Early-Onset, Autosomal Dominant Alzheimer Disease.

Pathways for Early-Onset, Autosomal Dominant Alzheimer Disease

Pathways related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.7 APP PSEN1 PSEN2
2 11.55 APP PSEN1 PSEN2 SORL1 TREM2
3
Show member pathways
11.25 APP PSEN1
4 11.17 APP PSEN1 PSEN2
5 10.99 APP PSEN1 PSEN2
6 10.84 PSEN1 PSEN2
7 10.49 APP PSEN1 PSEN2
8 10.02 PSEN1 PSEN2

GO Terms for Early-Onset, Autosomal Dominant Alzheimer Disease

Cellular components related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.77 ABCA7 APP PSEN1 PSEN2 SORL1
2 Golgi membrane GO:0000139 9.73 ABCA7 PSEN1 PSEN2 SORL1
3 mitochondrial inner membrane GO:0005743 9.71 PSEN1 PSEN2 TOMM40
4 cell surface GO:0009986 9.71 ABCA7 APP PSEN1 PSEN2
5 axon GO:0030424 9.69 APP PSEN1 PSEN2
6 membrane raft GO:0045121 9.65 APP PSEN1 PSEN2
7 rough endoplasmic reticulum GO:0005791 9.52 APP PSEN1
8 growth cone GO:0030426 9.5 APP PSEN1 PSEN2
9 smooth endoplasmic reticulum GO:0005790 9.46 APP PSEN1
10 neuromuscular junction GO:0031594 9.33 APP PSEN1 PSEN2
11 nuclear envelope lumen GO:0005641 9.26 APP SORL1
12 dendritic shaft GO:0043198 9.13 APP PSEN1 PSEN2
13 ciliary rootlet GO:0035253 8.8 APP PSEN1 PSEN2
14 integral component of membrane GO:0016021 10.04 ABCA7 APP PSEN1 PSEN2 SORL1 TOMM40

Biological processes related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.76 APP PSEN1 SORL1
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.75 ABCA7 APP TREM2
3 Notch signaling pathway GO:0007219 9.67 APP PSEN1 PSEN2
4 cholesterol metabolic process GO:0008203 9.65 APP SORL1
5 ephrin receptor signaling pathway GO:0048013 9.64 PSEN1 PSEN2
6 forebrain development GO:0030900 9.64 APP PSEN1
7 memory GO:0007613 9.63 ABCA7 PSEN1
8 positive regulation of protein binding GO:0032092 9.63 APP PSEN1
9 protein processing GO:0016485 9.62 PSEN1 PSEN2
10 learning or memory GO:0007611 9.62 APP PSEN1
11 synapse organization GO:0050808 9.61 APP PSEN1
12 neuron apoptotic process GO:0051402 9.61 APP PSEN1
13 positive regulation of phosphorylation GO:0042327 9.6 APP PSEN1
14 cellular response to amyloid-beta GO:1904646 9.59 APP PSEN1
15 membrane protein ectodomain proteolysis GO:0006509 9.57 PSEN1 PSEN2
16 regulation of protein binding GO:0043393 9.56 APP PSEN1
17 membrane protein intracellular domain proteolysis GO:0031293 9.55 PSEN1 PSEN2
18 protein maturation GO:0051604 9.54 PSEN1 SORL1
19 Notch receptor processing GO:0007220 9.52 PSEN1 PSEN2
20 amyloid-beta metabolic process GO:0050435 9.51 PSEN1 PSEN2
21 negative regulation of amyloid-beta formation GO:1902430 9.48 ABCA7 SORL1
22 astrocyte activation GO:0048143 9.46 APP PSEN1
23 amyloid precursor protein catabolic process GO:0042987 9.43 PSEN1 PSEN2
24 modulation of age-related behavioral decline GO:0090647 9.4 APP PSEN1
25 neuron projection maintenance GO:1990535 9.37 APP PSEN1
26 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.32 APP PSEN1
27 positive regulation of amyloid fibril formation GO:1905908 9.26 APP PSEN1
28 astrocyte activation involved in immune response GO:0002265 9.16 APP PSEN1
29 negative regulation of low-density lipoprotein receptor activity GO:1905598 8.96 APP PSEN1
30 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 8.62 APP PSEN1

Molecular functions related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 9.16 PSEN1 PSEN2
2 aspartic-type endopeptidase activity GO:0004190 8.96 PSEN1 PSEN2
3 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 8.62 PSEN1 PSEN2

Sources for Early-Onset, Autosomal Dominant 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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