FAD
MCID: ERL029
MIFTS: 39

Early-Onset, Autosomal Dominant Alzheimer Disease (FAD) malady

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

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

Aliases & Descriptions for Early-Onset, Autosomal Dominant Alzheimer Disease:

Name: Early-Onset, Autosomal Dominant Alzheimer Disease 50
Familial Alzheimer Disease 50 56 29 69
Early-Onset Familial Autosomal Dominant Alzheimer Disease 50 56
Early-Onset Autosomal Dominant Alzheimer Disease 50 56
Eofad 50 56
Fad 50

Characteristics:

Orphanet epidemiological data:

56
early-onset autosomal dominant alzheimer disease
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA1020
ICD10 via Orphanet 34 G30.0

Summaries for Early-Onset, Autosomal Dominant Alzheimer Disease

NIH Rare Diseases : 50 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. An important gene associated with Early-Onset, Autosomal Dominant Alzheimer Disease is PSEN1 (Presenilin 1), and among its related pathways/superpathways are Neuroscience and Wnt / Hedgehog / Notch. The drugs Dopamine and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include brain.

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

(show all 20)
id Related Disease Score Top Affiliating Genes
1 early-onset familial alzheimer disease 11.0
2 alzheimer disease 9.9
3 encephalitozoonosis 9.9 APP PSEN1
4 intracranial structure hemangioma 9.9 APP PSEN1
5 limited scleroderma 9.9 APP PSEN1
6 van maldergem syndrome 2 9.9 APP PSEN1
7 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.9 APP PSEN1
8 contagious pustular dermatitis 9.8 APP PSEN1
9 hard palate cancer 9.8 APP PSEN1
10 coenzyme q10 deficiency, primary, 1 9.8 APP PSEN1
11 primary cutaneous gamma/delta-positive t-cell lymphoma 9.8 PSEN1 PSEN2
12 foxp2-related speech and language disorders 9.7 APP PSEN1 PSEN2
13 pick disease 9.7 APP PSEN1 PSEN2
14 cardiomyopathy, dilated, 1v 9.7 APP PSEN1 PSEN2
15 meckel syndrome 10 9.7 APP PSEN1 PSEN2
16 cardiomyopathy, dilated, 1u 9.7 APP PSEN1 PSEN2
17 eumycotic mycetoma 9.7 APP PSEN1 PSEN2
18 substance-induced psychosis 9.7 APP PSEN1 PSEN2
19 ectodermal dysplasia mental retardation syndactyly 9.5 APP PSEN1 PSEN2 SORL1
20 spondyloarthropathy 1 9.5 APP PSEN1 PSEN2 SORL1

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

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 634)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
2
Levodopa Approved Phase 4 59-92-7 6047
3
Nicotine Approved Phase 4,Phase 2,Phase 3,Phase 1 54-11-5 942 89594
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 50-78-2 2244
6
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-28-2 5757 53477783
7
Ibuprofen Approved Phase 4,Phase 3,Phase 1,Early Phase 1 15687-27-1 3672
8
Amlodipine Approved Phase 4,Phase 2,Phase 3 88150-42-9 2162
9
Warfarin Approved Phase 4,Phase 3,Phase 1 81-81-2 6691 54678486
10
Donepezil Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 120014-06-4 3152
11
Galantamine Approved Phase 4,Phase 3,Phase 2,Phase 1 357-70-0 9651 908828, 9651
12
Rivastigmine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 123441-03-2 77991
13
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
14
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 19982-08-2 4054
15
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2 106266-06-2 5073
16
Methylphenidate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 113-45-1 4158
17
Isoflurane Approved, Vet_approved Phase 4,Phase 1 26675-46-7 3763
18
Citalopram Approved Phase 4,Phase 3,Phase 2 59729-33-8 2771
19
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 1 2078-54-8 4943
20
Rivaroxaban Approved Phase 4 366789-02-8
21
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 1994-09-7, 94-09-7 2337
22
Dextromethorphan Approved Phase 4,Phase 3,Phase 2,Phase 1 125-71-3 5360696 5362449
23
Medroxyprogesterone acetate Approved, Investigational Phase 4,Phase 2,Phase 3 71-58-9
24
Ticagrelor Approved Phase 4,Phase 3 274693-27-5 9871419
25
Guaifenesin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 93-14-1 3516
26
Norepinephrine Approved Phase 4,Phase 1 51-41-2 439260
27
Gabapentin Approved, Investigational Phase 4 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 Phase 4,Phase 3,Phase 2 56-54-2 441074
33
Acetaminophen Approved Phase 4,Phase 3,Phase 2 103-90-2 1983
34
Metformin Approved Phase 4,Phase 2 657-24-9 14219 4091
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
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
42 Piracetam Approved Phase 4,Phase 2 7491-74-9
43
Rasagiline Approved Phase 4,Phase 2 136236-51-6 3052776
44
Cilostazol Approved Phase 4,Phase 2 73963-72-1 2754
45
Nimodipine Approved Phase 4 66085-59-4 4497
46
Haloperidol Approved Phase 4,Phase 3 52-86-8 3559
47
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
48
Paroxetine Approved, Investigational Phase 4 61869-08-7 43815
49
Sertraline Approved Phase 4,Phase 2,Phase 3 79617-96-2 68617
50
Hydrocodone Approved, Illicit Phase 4 125-29-1 5284569

Interventional clinical trials:

(show top 50) (show all 2114)
id Name Status NCT ID Phase
1 Diffusion Tensor Weighted MRI in Alzheimer's Disease Modifying Treatment Effects of Galantamine (Reminyl®) Unknown status NCT00523666 Phase 4
2 Donepezil and Memantine in Moderate to Severe Alzheimer's Disease Unknown status NCT00866060 Phase 4
3 Effect of Cognitive Intervention in Alzheimer's Disease (AD) on Functional Cortical Networks in fMRI Unknown status NCT01329601 Phase 4
4 Effect of Memantine Oral Pump on Language in Patients With Probable Alzheimer's Disease Unknown status NCT01849042 Phase 4
5 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
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
7 Open Label Trial of Rivastigmine Patch in Subjects With Mild to Moderate Stage AD Having Coexisting svCVD Unknown status NCT02444637 Phase 4
8 CALM-AD Unknown status NCT00142324 Phase 4
9 Validation of DaTscan for Detection of Parkinson Disease Related Disorders Unknown status NCT02138682 Phase 4
10 Rivaroxaban in Patients With Atrial Fibrillation and Coronary Artery Disease Undergoing Percutaneous Coronary Intervention Unknown status NCT02334254 Phase 4
11 Improving Function, Quality of Life, Glycemia in Diabetics With Dementia Unknown status NCT00792662 Phase 4
12 Dopaminergic Enhancement of Learning and Memory in Healthy Adults and Patients With Dementia/Mild Cognitive Impairment Unknown status NCT00306124 Phase 4
13 Pharmacodynamic Effects of Atorvastatin vs. Rosuvastatin on Platelet Reactivity Unknown status NCT01567774 Phase 4
14 Memantine for Agitation in Dementia Unknown status NCT00371059 Phase 4
15 Huperzine-A to Help With Mental Problems and the Inability to Care for Onself in Patients With Schizophrenia Unknown status NCT01012830 Phase 4
16 Gastrodin Prevents Cognitive Decline Related to Cardiopulmonary Bypass Unknown status NCT00297245 Phase 4
17 Memantine for Post-Operative Pain Control Unknown status NCT01041313 Phase 4
18 Multi-centre Clinical Trial on Hormone Replacement Treatment in China Unknown status NCT01698164 Phase 4
19 The Clinical Response of Choline Acetyltransferase and Apolipoprotein Epsilon Gene Polymorphisms to Donepezil in Alzheimer's Disease Completed NCT00381381 Phase 4
20 Compliance and Tolerability of Rivastigmine Transdermal Patch 10 cm² in Patients With Probable Alzheimer's Disease. Completed NCT00731224 Phase 4
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
22 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
23 Memantine and Comprehensive, Individualized Management of Alzheimer's Disease and Caregiver Training Completed NCT00120874 Phase 4
24 Safety and Efficacy of Donepezil HCl 23 mg in Patients With Moderate to Severe Alzheimer's Disease Completed NCT02097056 Phase 4
25 The Efficacy of Galantamine Treatment on Attention in Patients With Alzheimer's Disease Completed NCT01054976 Phase 4
26 Tolerability of Rivastigmine Before and After Switching From Oral Formulation to Transdermal Patch in Alzheimer's Dementia Completed NCT01585272 Phase 4
27 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
28 Double Blind Study of Trp01 in Patients With Alzheimer's Disease Completed NCT00202124 Phase 4
29 16w Interventional Study on Titration and Dose/Efficacy Assessment of Exelon in Chinese Alzheimer's Disease Patients Completed NCT01948791 Phase 4
30 A Study of the Safety and Effectiveness of Galantamine Hydrobromide in Patients With Alzheimer's Disease Completed NCT00297362 Phase 4
31 Trial of Carvedilol in Alzheimer's Disease Completed NCT01354444 Phase 4
32 Clinical Effectiveness of 10 cm^2 Rivastigmine Patch in Patients With Alzheimer's Disease Completed NCT00561392 Phase 4
33 Delaying the Progression of Driving Impairment in Individuals With Mild Alzheimer's Disease Completed NCT00476008 Phase 4
34 Study of the Effects of Current Drug Treatments on Levels of Certain Brain Chemicals in Alzheimer's Disease Completed NCT00104442 Phase 4
35 Neural Correlates In Mild Alzheimer's Disease Completed NCT00477659 Phase 4
36 Escitalopram for the Treatment of Depression in Alzheimer's Disease Completed NCT01841125 Phase 4
37 A Study to Evaluate Sleep Quality in Patients With Mild to Moderate Alzheimer's Disease Completed NCT01478204 Phase 4
38 Effect of Memantine on Functional Communication in Patients With Alzheimer's Disease Completed NCT00469456 Phase 4
39 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
40 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
41 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
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
43 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
44 EARTH 413: A Study of Aricept in Hispanic Patients With Mild to Moderate Alzheimer's Disease (AD) Completed NCT00230568 Phase 4
45 Neptune Krill Oil (NKO™) in Early Stage Alzheimer's Disease (MNEMOSYNE) Completed NCT00867828 Phase 4
46 The Efficacy of Galantamine on the Attention and the Frontal Function of the Patients With Dementia of Alzheimer Type Completed NCT00216515 Phase 4
47 Memantine for Agitation and Aggression in Severe Alzheimer's Disease Completed NCT00401167 Phase 4
48 Magnetic Resonance Spectroscopy Study of Memantine in Alzheimer's Disease Completed NCT00551161 Phase 4
49 A Positron Emission Tomography (PET) Study Evaluating Brain Metabolism of a Medical Food in Alzheimer's Disease Completed NCT01122329 Phase 4
50 Effects of Memantine on Magnetic Resonance (MR) Spectroscopy in Subjects at Risk for Alzheimer's Disease Completed NCT00933608 Phase 4

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:

id Genetic test Affiliating Genes
1 Alzheimer Disease Familial 29

Anatomical Context for Early-Onset, Autosomal Dominant Alzheimer Disease

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

39
Brain

Publications for Early-Onset, Autosomal Dominant Alzheimer Disease

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

id 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

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 13)
id Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.65 APP PSEN1 PSEN2
2 Golgi membrane GO:0000139 9.63 PSEN1 PSEN2 SORL1
3 integral component of plasma membrane GO:0005887 9.62 APP PSEN1 PSEN2 SORL1
4 kinetochore GO:0000776 9.52 PSEN1 PSEN2
5 growth cone GO:0030426 9.51 APP PSEN1
6 Z disc GO:0030018 9.49 PSEN1 PSEN2
7 Golgi apparatus GO:0005794 9.46 APP PSEN1 PSEN2 SORL1
8 neuromuscular junction GO:0031594 9.43 APP PSEN1
9 rough endoplasmic reticulum GO:0005791 9.4 APP PSEN1
10 dendritic shaft GO:0043198 9.37 APP PSEN1
11 smooth endoplasmic reticulum GO:0005790 9.26 APP PSEN1
12 nuclear envelope lumen GO:0005641 8.96 APP SORL1
13 ciliary rootlet GO:0035253 8.62 APP PSEN1

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

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.65 APP PSEN1 SORL1
2 endocytosis GO:0006897 9.61 APP SORL1
3 positive regulation of protein phosphorylation GO:0001934 9.6 APP PSEN1
4 response to oxidative stress GO:0006979 9.59 APP PSEN1
5 positive regulation of catalytic activity GO:0043085 9.58 PSEN1 PSEN2
6 cholesterol metabolic process GO:0008203 9.58 APP SORL1
7 forebrain development GO:0030900 9.57 APP PSEN1
8 protein processing GO:0016485 9.56 PSEN1 PSEN2
9 learning or memory GO:0007611 9.55 APP PSEN1
10 neuron apoptotic process GO:0051402 9.54 APP PSEN1
11 regulation of synaptic plasticity GO:0048167 9.52 APP PSEN1
12 membrane protein ectodomain proteolysis GO:0006509 9.51 PSEN1 PSEN2
13 Notch signaling pathway GO:0007219 9.5 APP PSEN1 PSEN2
14 regulation of protein binding GO:0043393 9.49 APP PSEN1
15 Notch receptor processing GO:0007220 9.46 PSEN1 PSEN2
16 protein maturation GO:0051604 9.43 PSEN1 SORL1
17 beta-amyloid metabolic process GO:0050435 9.4 PSEN1 PSEN2
18 amyloid precursor protein catabolic process GO:0042987 9.37 PSEN1 PSEN2
19 cellular response to beta-amyloid GO:1904646 9.26 APP PSEN1
20 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.16 APP PSEN1
21 astrocyte activation involved in immune response GO:0002265 8.96 APP PSEN1
22 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:

id Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 8.96 PSEN1 PSEN2
2 aspartic-type endopeptidase activity GO:0004190 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
44 MGI
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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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