MCID: ERL029
MIFTS: 33

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 50
Familial Alzheimer Disease 50 56 69
Early-Onset Familial Autosomal Dominant Alzheimer Disease 50 56
Early-Onset Autosomal Dominant Alzheimer Disease 50 56
Eofad 50 56
Alzheimer Disease Familial 29
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
UMLS via Orphanet 70 C0276496
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 dementia, frontotemporal. An important gene associated with Early-Onset, Autosomal Dominant Alzheimer Disease is PSEN2 (Presenilin 2), and among its related pathways/superpathways are Neuroscience and Presenilin-Mediated Signaling. The drugs Antibodies and Antibodies, Monoclonal 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 6
Alzheimer Disease, Type 3 Alzheimer Disease 18
Alzheimer Disease 9 Alzheimer Disease-2
Alzheimer Disease 8 Alzheimer Disease 16
Alzheimer's Disease 5 Alzheimer's Disease 7
Alzheimer's Disease 10 Alzheimer's Disease 11
Alzheimer's Disease 13 Alzheimer's Disease 14
Alzheimer's Disease 15 Alzheimer's Disease 19
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 24)
id Related Disease Score Top Affiliating Genes
1 early-onset familial alzheimer disease 11.0
2 dementia, frontotemporal 10.2 PSEN1 PSEN2
3 alzheimer disease-4 10.2 PSEN1 PSEN2
4 diffuse alopecia areata 10.1 PSEN1 PSEN2
5 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 10.1 PSEN1 PSEN2
6 akinetic mutism 10.0 APP PSEN1
7 intracranial structure hemangioma 10.0 APP PSEN1
8 alzheimer disease 10.0
9 limited scleroderma 9.9 APP PSEN1
10 nosophobia 9.9 APP PSEN1
11 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.9 APP PSEN1
12 carotid body cancer 9.8 APP PSEN1
13 parkinson disease 1 9.8 APP PSEN1
14 personality disorder 9.7 APP PSEN1
15 hepatic angiomyolipoma 9.7 APP PSEN1
16 allergic bronchopulmonary aspergillosis, familial 9.6 APP TOMM40
17 epimerase deficiency galactosemia 9.6 APP PSEN1 PSEN2
18 meckel syndrome 10 9.6 APP PSEN1 PSEN2
19 prostate carcinoma in situ 9.6 APP PSEN1 PSEN2
20 pick disease 9.6 APP PSEN1 PSEN2
21 eumycotic mycetoma 9.5 APP PSEN1 PSEN2
22 atrophic muscular disease 9.4 APP PSEN1
23 hypersensitivity syndrome, carbamazepine-induced 8.7 APP PSEN1 PSEN2 SORL1
24 ectodermal dysplasia alopecia preaxial polydactyly 8.2 APP PSEN1 PSEN2 SORL1 TOMM40

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):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 2, Phase 3
2 Antibodies, Monoclonal Phase 2, Phase 3
3 Immunoglobulins Phase 2, Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Dominantly 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. Recruiting NCT01760005 Phase 2, Phase 3 Gantenerumab;Solanezumab;Matching Placebo (Gantenerumab);Matching Placebo (Solanezumab);JNJ-54861911;Matching Placebo (JNJ-54861911)
2 Clinical and Genetic Study of Neurodegenerative Disorders With Cognitive Impairment Unknown status NCT00149175 Phase 1
3 Genetic Studies in Alzheimer's Disease Completed NCT00001235
4 Genetics of Mendelian Forms of Young Onset Alzheimer Disease Active, not recruiting NCT01622894

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

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

id Super pathways Score Top Affiliating Genes
1 12.07 APP PSEN1 PSEN2 SORL1
2 11.7 APP PSEN1 PSEN2
3
Show member pathways
11.25 APP PSEN1
4 11.1 APP PSEN1 PSEN2
5 10.84 PSEN1 PSEN2
6 10.79 APP PSEN1 PSEN2
7 10.21 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 17)
id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.8 APP PSEN1 PSEN2 SORL1
2 Golgi apparatus GO:0005794 9.76 APP PSEN1 PSEN2 SORL1
3 perinuclear region of cytoplasm GO:0048471 9.72 APP PSEN1 PSEN2
4 Golgi membrane GO:0000139 9.71 PSEN1 PSEN2 SORL1
5 kinetochore GO:0000776 9.57 PSEN1 PSEN2
6 Z disc GO:0030018 9.56 PSEN1 PSEN2
7 cell surface GO:0009986 9.52 APP PSEN1
8 mitochondrial inner membrane GO:0005743 9.51 PSEN1 TOMM40
9 rough endoplasmic reticulum GO:0005791 9.48 APP PSEN1
10 axon GO:0030424 9.43 APP PSEN1
11 smooth endoplasmic reticulum GO:0005790 9.4 APP PSEN1
12 membrane raft GO:0045121 9.37 APP PSEN1
13 growth cone GO:0030426 9.32 APP PSEN1
14 nuclear envelope lumen GO:0005641 9.26 APP SORL1
15 neuromuscular junction GO:0031594 9.16 APP PSEN1
16 dendritic shaft GO:0043198 8.96 APP PSEN1
17 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 21)
id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.69 APP PSEN1 SORL1
2 response to oxidative stress GO:0006979 9.6 APP PSEN1
3 positive regulation of catalytic activity GO:0043085 9.59 PSEN1 PSEN2
4 cholesterol metabolic process GO:0008203 9.58 APP SORL1
5 forebrain development GO:0030900 9.58 APP PSEN1
6 protein processing GO:0016485 9.57 PSEN1 PSEN2
7 learning or memory GO:0007611 9.56 APP PSEN1
8 neuron apoptotic process GO:0051402 9.54 APP PSEN1
9 membrane protein ectodomain proteolysis GO:0006509 9.52 PSEN1 PSEN2
10 Notch signaling pathway GO:0007219 9.5 APP PSEN1 PSEN2
11 regulation of protein binding GO:0043393 9.49 APP PSEN1
12 protein maturation GO:0051604 9.48 PSEN1 SORL1
13 Notch receptor processing GO:0007220 9.46 PSEN1 PSEN2
14 cellular response to beta-amyloid GO:1904646 9.43 APP PSEN1
15 beta-amyloid metabolic process GO:0050435 9.4 PSEN1 PSEN2
16 amyloid precursor protein catabolic process GO:0042987 9.37 PSEN1 PSEN2
17 synapse organization GO:0050808 9.25 APP
18 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.16 APP PSEN1
19 modulation of age-related behavioral decline GO:0090647 8.96 APP
20 astrocyte activation involved in immune response GO:0002265 8.96 APP PSEN1
21 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 9.16 PSEN1 PSEN2
2 aspartic-type endopeptidase activity GO:0004190 8.96 PSEN1 PSEN2
3 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 8.32 PSEN1

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
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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