MCID: ALZ002
MIFTS: 29

Alzheimer Disease Type 1 malady

Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases categories

Aliases & Classifications for Alzheimer Disease Type 1

About this section

Alzheimer Disease Type 1, Aliases & Descriptions:

Name: Alzheimer Disease Type 1 63 41 60
Early-Onset Familial Alzheimer Disease 63 19 20
Alzheimer Disease 1 41 20 22
 
Early-Onset Familial Form of Alzheimer Disease 41
Eofad 19
Ad1 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Mental diseases, Neuronal diseases


Summaries for Alzheimer Disease Type 1

About this section


NIH Rare Diseases:41 Alzheimer disease is a degenerative disease of the brain that causes gradual loss of memory, judgment, and ability to function socially. alzheimer disease currently affects about 5 million people. about 75 percent of alzheimer disease cases are classified as sporadic, which means they occur in people with no history of the disorder in their family. although the cause of these cases is unknown, genetic changes are likely to play a role. virtually all sporadic alzheimer disease begins after age 65, and the risk of developing this condition increases as a person gets older. the remaining cases of alzheimer disease are familial, which means they are found in multiple members of a family. familial alzheimer disease can be divided into early-onset disease (symptoms begin before age 65) and late-onset disease (symptoms begin after age 65). last updated: 7/2/2013

MalaCards based summary: Alzheimer Disease Type 1, also known as early-onset familial alzheimer disease, is related to alzheimer disease and hyperlipidemia type 3. An important gene associated with Alzheimer Disease Type 1 is APP (amyloid beta (A4) precursor protein), and among its related pathways are Neuroscience and Disease. The compounds ab-42 and lactacystin have been mentioned in the context of this disorder. Affiliated tissues include brain.

GeneReviews summary for alzheimer-early

Related Diseases for Alzheimer Disease Type 1

About this section

Graphical network of diseases related to Alzheimer Disease Type 1:



Diseases related to alzheimer disease type 1

Symptoms for Alzheimer Disease Type 1

About this section

Drugs & Therapeutics for Alzheimer Disease Type 1

About this section

Drug clinical trials:

Search ClinicalTrials for Alzheimer Disease Type 1

Search NIH Clinical Center for Alzheimer Disease Type 1

Genetic Tests for Alzheimer Disease Type 1

About this section

Genetic tests related to Alzheimer Disease Type 1:

id Genetic test Affiliating Genes
1 Early-Onset Familial Alzheimer Disease20 PSEN2
2 Alzheimer Disease Type 120 APP
3 Alzheimer Disease, Type 122

Anatomical Context for Alzheimer Disease Type 1

About this section

MalaCards organs/tissues related to Alzheimer Disease Type 1:

31
Brain

Animal Models for Alzheimer Disease Type 1 or affiliated genes

About this section

Publications for Alzheimer Disease Type 1

About this section

Variations for Alzheimer Disease Type 1

About this section

Clinvar genetic disease variations for Alzheimer Disease Type 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1APPNM_000484.3(APP): c.2149G> A (p.Val717Ile)single nucleotide variantPathogenicrs63750264GRCh37Chr 21, 27264096: 27264096
2APPNM_000484.3(APP): c.2075C> G (p.Ala692Gly)single nucleotide variantPathogenicrs63750671GRCh37Chr 21, 27264170: 27264170
3APPNM_000484.3(APP): c.2010_2011delGAinsTC (p.Lys670_Met671delinsAsnLeu)indelPathogenicrs281865161GRCh37Chr 21, 27269938: 27269939
4APPNM_000484.3(APP): c.2078A> G (p.Glu693Gly)single nucleotide variantPathogenicrs63751039GRCh37Chr 21, 27264167: 27264167

Expression for genes affiliated with Alzheimer Disease Type 1

About this section
Search GEO for disease gene expression data for Alzheimer Disease Type 1.

Pathways for genes affiliated with Alzheimer Disease Type 1

About this section

Pathways related to Alzheimer Disease Type 1 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1PSEN2, APP
29.1PSEN2, APP
3
Show member pathways
Alzheimers Disease36
9.1PSEN2, APP
49.1APP, PSEN2
59.1PSEN2, APP
6
Show member pathways
Delta-Notch Signaling Pathway36
Notch Signaling Pathway36
9.1PSEN2, APP
79.1PSEN2, APP

Compounds for genes affiliated with Alzheimer Disease Type 1

About this section
Sources:
43Novoseek, 24HMDB, 12DrugBank, 49PharmGKB, 28IUPHAR
See all sources

Compounds related to Alzheimer Disease Type 1 according to GeneCards Suite gene sharing:

(show all 13)
idCompoundScoreTop Affiliating Genes
1ab-42439.4PSEN2, APP
2lactacystin439.4PSEN2, APP
3choline43 24 1211.4PSEN2, APP
4curcumin439.4APP, PSEN2
5valine439.3PSEN2, APP
6paclitaxel43 49 1211.3PSEN2, APP
7actinomycin d439.3APP, PSEN2
8aspartate439.2PSEN2, APP
9h2o2439.2PSEN2, APP
10cholesterol43 28 24 1212.1APP, PSEN2
11retinoic acid43 2410.1PSEN2, APP
12vegf439.0PSEN2, APP
13glutamate438.8PSEN2, APP

GO Terms for genes affiliated with Alzheimer Disease Type 1

About this section

Cellular components related to Alzheimer Disease Type 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ciliary rootletGO:00352539.3PSEN2, APP
2dendritic shaftGO:00431989.3PSEN2, APP
3neuromuscular junctionGO:00315949.2PSEN2, APP
4axonGO:00304249.2PSEN2, APP
5cell surfaceGO:00099869.1APP, PSEN2
6integral component of plasma membraneGO:00058879.1PSEN2, APP
7perinuclear region of cytoplasmGO:00484719.0PSEN2, APP
8Golgi apparatusGO:00057948.8PSEN2, APP

Biological processes related to Alzheimer Disease Type 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Notch signaling pathwayGO:00072199.1PSEN2, APP
2regulation of epidermal growth factor-activated receptor activityGO:00071769.0PSEN2, APP
3forebrain developmentGO:00309008.8PSEN2, APP

Products for genes affiliated with Alzheimer Disease Type 1

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Alzheimer Disease Type 1

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet