AD1
MCID: ALZ063
MIFTS: 31

Alzheimer's Disease 1 (AD1)

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

Aliases & Classifications for Alzheimer's Disease 1

MalaCards integrated aliases for Alzheimer's Disease 1:

Name: Alzheimer's Disease 1 12 15
Alzheimer Disease, Type 1 29 6
Early-Onset Familial Form of Alzheimer Disease 20
Alzheimer's Disease 1, Early Onset 12
Alzheimer Disease Type 1 20
Alzheimer Disease 1 20
Ad1 20

Classifications:



External Ids:

Disease Ontology 12 DOID:0080348

Summaries for Alzheimer's Disease 1

Disease Ontology : 12 An Alzheimer's disease that has material basis in mutation in the gene encoding the amyloid precursor protein on chromosome 21q.

MalaCards based summary : Alzheimer's Disease 1, also known as alzheimer disease, type 1, is related to early-onset, autosomal dominant alzheimer disease and mild cognitive impairment. An important gene associated with Alzheimer's Disease 1 is APP (Amyloid Beta Precursor Protein), and among its related pathways/superpathways are Vesicle-mediated transport and Neuroscience. Affiliated tissues include brain and endothelial.

Related Diseases for Alzheimer's Disease 1

Diseases in the Alzheimer Disease family:

Alzheimer Disease 2 Alzheimer Disease 16
Alzheimer Disease 5 Alzheimer Disease 15
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 17
Alzheimer Disease 18 Alzheimer Disease 19
Alzheimer's Disease 1 Early-Onset, Autosomal Dominant Alzheimer Disease

Diseases related to Alzheimer's Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 early-onset, autosomal dominant alzheimer disease 31.5 APP APOE
2 mild cognitive impairment 29.7 APP APOE
3 alzheimer disease 28.6 PICALM PCDH11X GAB2 EXOC3L2 APP APOE
4 residual stage of open angle glaucoma 9.9 APP APOE
5 senile plaque formation 9.9 APP APOE
6 binswanger's disease 9.9 APP APOE
7 arteriolosclerosis 9.9 APP APOE
8 alzheimer disease 2 9.9 APP APOE
9 leukemia, acute lymphoblastic 9.9
10 helix syndrome 9.9
11 melanoma 9.9
12 breast ductal carcinoma 9.9
13 fibrosarcoma 9.9
14 communicating hydrocephalus 9.9 APP APOE
15 hemorrhage, intracerebral 9.9 APP APOE
16 cerebral amyloid angiopathy, app-related 9.9 APP APOE
17 alzheimer disease 3 9.9 APP APOE
18 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 9.9 APP APOE
19 amnestic disorder 9.8 APP APOE
20 down syndrome 9.8
21 chromosomal triplication 9.8
22 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.8 APP APOE
23 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 9.8 APP APOE
24 aphasia 9.8 APP APOE
25 inclusion body myositis 9.8 APP APOE
26 normal pressure hydrocephalus 9.7 APP APOE
27 supranuclear palsy, progressive, 1 9.7 PICALM APP APOE
28 dementia, lewy body 9.7 PICALM APP APOE
29 pick disease of brain 9.7 PICALM APP APOE
30 scrapie 9.6 APP APOE
31 alzheimer disease 4 9.5 PICALM EXOC3L2 APOE

Graphical network of the top 20 diseases related to Alzheimer's Disease 1:



Diseases related to Alzheimer's Disease 1

Symptoms & Phenotypes for Alzheimer's Disease 1

Drugs & Therapeutics for Alzheimer's Disease 1

Search Clinical Trials , NIH Clinical Center for Alzheimer's Disease 1

Genetic Tests for Alzheimer's Disease 1

Genetic tests related to Alzheimer's Disease 1:

# Genetic test Affiliating Genes
1 Alzheimer Disease, Type 1 29

Anatomical Context for Alzheimer's Disease 1

MalaCards organs/tissues related to Alzheimer's Disease 1:

40
Brain, Endothelial

Publications for Alzheimer's Disease 1

Articles related to Alzheimer's Disease 1:

(show top 50) (show all 72)
# Title Authors PMID Year
1
Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease. 6
18413473 2008
2
A second family with familial AD and the V717L APP mutation has a later age at onset. 6
16505331 2006
3
An African American family with early-onset Alzheimer disease and an APP (T714I) mutation. 6
15668448 2005
4
Aggressive amyloidosis in mice expressing human amyloid peptides with the Arctic mutation. 6
15502844 2004
5
A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene. 6
15365148 2004
6
An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). 6
12034808 2002
7
Brain to plasma amyloid-beta efflux: a measure of brain amyloid burden in a mouse model of Alzheimer's disease. 6
11910111 2002
8
The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. 6
11528419 2001
9
In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease. 6
11311152 2001
10
Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease. 6
11063718 2000
11
Substitutions at codon 22 of Alzheimer's abeta peptide induce diverse conformational changes and apoptotic effects in human cerebral endothelial cells. 6
10821838 2000
12
Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene. 6
10867787 2000
13
Apolipoprotein E is essential for amyloid deposition in the APP(V717F) transgenic mouse model of Alzheimer's disease. 6
10611368 1999
14
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. 6
10441572 1999
15
Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease. 6
10097173 1999
16
Flemish and Dutch mutations in amyloid beta precursor protein have different effects on amyloid beta secretion. 6
9848098 1998
17
Neuron loss in APP transgenic mice. 6
9796810 1998
18
Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation. 6
9754958 1998
19
Two amyloid precursor protein transgenic mouse models with Alzheimer disease-like pathology. 6
9371838 1997
20
A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). 6
9328472 1997
21
Correlative memory deficits, Abeta elevation, and amyloid plaques in transgenic mice. 6
8810256 1996
22
Familial Alzheimer's disease-linked mutations at Val717 of amyloid precursor protein are specific for the increased secretion of A beta 42(43). 6
8886002 1996
23
The Swedish mutation causes early-onset Alzheimer's disease by beta-secretase cleavage within the secretory pathway. 6
7489411 1995
24
Alzheimer-type neuropathology in transgenic mice overexpressing V717F beta-amyloid precursor protein. 6
7845465 1995
25
Excessive production of amyloid beta-protein by peripheral cells of symptomatic and presymptomatic patients carrying the Swedish familial Alzheimer disease mutation. 6
7991571 1994
26
Novel amyloid precursor protein gene mutation (codon 665Asp) in a patient with late-onset Alzheimer's disease. 6
8154870 1994
27
Altered cleavage and secretion of a recombinant beta-APP bearing the Swedish familial Alzheimer's disease mutation. 6
8012386 1994
28
Alzheimer's disease and possible gene interaction. 6
8290965 1994
29
RFLP analysis for APP 717 mutations associated with Alzheimer's disease. 6
7686976 1993
30
No mutation in codon 713 of the amyloid precursor gene in schizophrenic patients. 6
8499923 1993
31
Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production. 6
1465129 1992
32
A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. 6
1302033 1992
33
Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene. 6
1520398 1992
34
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. 6
1303239 1992
35
Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. 6
1944558 1991
36
A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. 6
1925564 1991
37
APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease. 6
1679288 1991
38
The 717Val----Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups. 6
1908231 1991
39
Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. 6
1678058 1991
40
Amyloid precursor protein gene mutation in early-onset Alzheimer's disease. 6
1678057 1991
41
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 6
1671712 1991
42
Prevalence, risk factors, and management of dementia and mild cognitive impairment in adults aged 60 years or older in China: a cross-sectional study. 61
33271079 2020
43
Is the p3 Peptide (Aβ17-40, Aβ17-42) Relevant to the Pathology of Alzheimer's Disease?1. 61
32176648 2020
44
Long-term risk of dementia among people with traumatic brain injury in Denmark: a population-based observational cohort study. 61
29653873 2018
45
An Intracellular Pathogen Response Pathway Promotes Proteostasis in C. elegans. 61
29103937 2017
46
The biomarker-based diagnosis of Alzheimer's disease. 1-ethical and societal issues. 61
28317644 2017
47
Attitude Towards Alzheimer's Disease Among Undergraduate Students of University of the West Indies, Trinidad and Tobago. 61
26500928 2015
48
Macrocyclic derivatives of 6-methyluracil: New ligands of the peripheral anionic site of acetylcholinesterase. 61
26639720 2015
49
Novel styrylbenzene derivatives for detecting amyloid deposits. 61
24815035 2014
50
Prescribing drugs for Alzheimer's disease in primary care: managing cognitive symptoms. 61
24924683 2014

Variations for Alzheimer's Disease 1

ClinVar genetic disease variations for Alzheimer's Disease 1:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APP NM_000484.4(APP):c.2149G>A (p.Val717Ile) SNV Pathogenic 18088 rs63750264 21:27264096-27264096 21:25891784-25891784
2 APP NM_000484.4(APP):c.2149G>T (p.Val717Phe) SNV Pathogenic 18089 rs63750264 21:27264096-27264096 21:25891784-25891784
3 APP NM_000484.4(APP):c.2150T>G (p.Val717Gly) SNV Pathogenic 18090 rs63749964 21:27264095-27264095 21:25891783-25891783
4 APP NM_000484.4(APP):c.2075C>G (p.Ala692Gly) SNV Pathogenic 18091 rs63750671 21:27264170-27264170 21:25891858-25891858
5 APP NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu) Inversion Pathogenic 18093 rs281865161 21:27269938-27269939 21:25897626-25897627
6 APP NM_000484.4(APP):c.2137G>A (p.Ala713Thr) SNV Pathogenic 18094 rs63750066 21:27264108-27264108 21:25891796-25891796
7 APP NM_000484.4(APP):c.1995G>C (p.Glu665Asp) SNV Pathogenic 18095 rs63750363 21:27269954-27269954 21:25897642-25897642
8 APP NM_000484.4(APP):c.2146A>G (p.Ile716Val) SNV Pathogenic 18096 rs63750399 21:27264099-27264099 21:25891787-25891787
9 APP NM_000484.4(APP):c.2143G>A (p.Val715Met) SNV Pathogenic 18097 rs63750734 21:27264102-27264102 21:25891790-25891790
10 APP NM_000484.4(APP):c.2078A>G (p.Glu693Gly) SNV Pathogenic 18098 rs63751039 21:27264167-27264167 21:25891855-25891855
11 APP NM_000484.4(APP):c.2141C>T (p.Thr714Ile) SNV Pathogenic 18100 rs63750973 21:27264104-27264104 21:25891792-25891792
12 APP NM_000484.4(APP):c.2140A>G (p.Thr714Ala) SNV Pathogenic 18102 rs63750643 21:27264105-27264105 21:25891793-25891793
13 APP NM_000484.4(APP):c.2149G>C (p.Val717Leu) SNV Pathogenic 18105 rs63750264 21:27264096-27264096 21:25891784-25891784

Expression for Alzheimer's Disease 1

Search GEO for disease gene expression data for Alzheimer's Disease 1.

Pathways for Alzheimer's Disease 1

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.13 PICALM DCTN4 BLOC1S3 APP APOE
2 12.08 GAB2 APP APOE
3
Show member pathways
11.71 PICALM BLOC1S3 APP
5 10.91 APP APOE
6 10.46 APP APOE

GO Terms for Alzheimer's Disease 1

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

# Name GO ID Score Top Affiliating Genes
1 clathrin-coated pit GO:0005905 9.16 PICALM APP
2 rough endoplasmic reticulum GO:0005791 8.96 LRAT APP
3 early endosome GO:0005769 8.8 PICALM APP APOE

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.5 PICALM APP APOE
2 neuron projection development GO:0031175 9.43 BLOC1S3 APP APOE
3 learning or memory GO:0007611 9.4 PICALM APP
4 retinoid metabolic process GO:0001523 9.37 LRAT APOE
5 negative regulation of long-term synaptic potentiation GO:1900272 9.16 APP APOE
6 modulation of age-related behavioral decline GO:0090647 8.96 PICALM APP
7 positive regulation of amyloid fibril formation GO:1905908 8.62 APP APOE

Molecular functions related to Alzheimer's Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SNARE binding GO:0000149 9.16 PICALM EXOC3L2
2 tau protein binding GO:0048156 8.96 PICALM APOE
3 low-density lipoprotein particle receptor binding GO:0050750 8.62 PICALM APOE

Sources for Alzheimer's Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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