MCID: ALZ002
MIFTS: 15

Alzheimer Disease Type 1

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

Aliases & Classifications for Alzheimer Disease Type 1

MalaCards integrated aliases for Alzheimer Disease Type 1:

Name: Alzheimer Disease Type 1 49 69
Early-Onset Familial Form of Alzheimer Disease 49
Alzheimer Disease, Type 1 28
Alzheimer Disease 1 49
Ad1 49

Classifications:



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UMLS 69 C2931257

Summaries for Alzheimer Disease Type 1

MalaCards based summary : Alzheimer Disease Type 1, also known as early-onset familial form of alzheimer disease, is related to alzheimer disease and early-onset, autosomal dominant alzheimer disease. An important gene associated with Alzheimer Disease Type 1 is APP (Amyloid Beta Precursor Protein).

Related Diseases for Alzheimer Disease Type 1

Symptoms & Phenotypes for Alzheimer Disease Type 1

Drugs & Therapeutics for Alzheimer Disease Type 1

Search Clinical Trials , NIH Clinical Center for Alzheimer Disease Type 1

Genetic Tests for Alzheimer Disease Type 1

Genetic tests related to Alzheimer Disease Type 1:

# Genetic test Affiliating Genes
1 Alzheimer Disease, Type 1 28

Anatomical Context for Alzheimer Disease Type 1

Publications for Alzheimer Disease Type 1

Articles related to Alzheimer Disease Type 1:

# Title Authors Year
1
BRCA1 transcriptional activity is enhanced by interactions between its AD1 domain and AhR. ( 18259752 )
2008
2
JunB potentiates function of BRCA1 activation domain 1 (AD1) through a coiled-coil-mediated interaction. ( 12080089 )
2002
3
The AD1 and AD2 transactivation domains of E2A are essential for the antiapoptotic activity of the chimeric oncoprotein E2A-HLF. ( 9742120 )
1998
4
The expression of tenascin-C with the AD1 variable repeat in embryonic tissues, cell lines and tumors in various vertebrate species. ( 9404002 )
1997
5
The rat mast cell antigen AD1 (homologue to human CD63 or melanoma antigen ME491) is expressed in other cells in culture. ( 1634775 )
1992

Variations for Alzheimer Disease Type 1

ClinVar genetic disease variations for Alzheimer Disease Type 1:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 APP NM_000484.3(APP): c.2149G> A (p.Val717Ile) single nucleotide variant Pathogenic rs63750264 GRCh37 Chromosome 21, 27264096: 27264096
2 APP NM_000484.3(APP): c.2149G> T (p.Val717Phe) single nucleotide variant Pathogenic rs63750264 GRCh37 Chromosome 21, 27264096: 27264096
3 APP NM_000484.3(APP): c.2150T> G (p.Val717Gly) single nucleotide variant Pathogenic rs63749964 GRCh37 Chromosome 21, 27264095: 27264095
4 APP NM_000484.3(APP): c.2075C> G (p.Ala692Gly) single nucleotide variant Pathogenic rs63750671 GRCh37 Chromosome 21, 27264170: 27264170
5 APP NM_000484.3(APP): c.2010_2011delGAinsTC (p.Lys670_Met671delinsAsnLeu) indel Pathogenic rs281865161 GRCh37 Chromosome 21, 27269938: 27269939
6 APP NM_000484.3(APP): c.2146A> G (p.Ile716Val) single nucleotide variant Pathogenic rs63750399 GRCh37 Chromosome 21, 27264099: 27264099
7 APP NM_000484.3(APP): c.2143G> A (p.Val715Met) single nucleotide variant Pathogenic/Likely pathogenic rs63750734 GRCh37 Chromosome 21, 27264102: 27264102
8 APP NM_000484.3(APP): c.2078A> G (p.Glu693Gly) single nucleotide variant Pathogenic rs63751039 GRCh37 Chromosome 21, 27264167: 27264167
9 APP NM_000484.3(APP): c.2141C> T (p.Thr714Ile) single nucleotide variant Pathogenic rs63750973 GRCh37 Chromosome 21, 27264104: 27264104
10 APP NM_000484.3(APP): c.2140A> G (p.Thr714Ala) single nucleotide variant Pathogenic rs63750643 GRCh37 Chromosome 21, 27264105: 27264105
11 APP NM_000484.3(APP): c.2149G> C (p.Val717Leu) single nucleotide variant Pathogenic rs63750264 GRCh37 Chromosome 21, 27264096: 27264096

Expression for Alzheimer Disease Type 1

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

Pathways for Alzheimer Disease Type 1

GO Terms for Alzheimer Disease Type 1

Sources for Alzheimer Disease Type 1

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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