AD9
MCID: ALZ045
MIFTS: 43

Alzheimer Disease 9 (AD9)

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

Aliases & Classifications for Alzheimer Disease 9

MalaCards integrated aliases for Alzheimer Disease 9:

Name: Alzheimer Disease 9 56 73 13 71
Ad9 56 12 73
Alzheimer Disease, Type 9 29 6
Alzheimer's Disease 9 12 15
Alzheimer Disease 9, Susceptibility to 56
Alzheimer's Disease 9, Late Onset 12
Alzheimer Disease 9, Late-Onset 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
mean age at onset 73 years (range 54 to 90)


HPO:

31
alzheimer disease 9:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Alzheimer Disease 9

UniProtKB/Swiss-Prot : 73 Alzheimer disease 9: A familial, late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid- beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

MalaCards based summary : Alzheimer Disease 9, also known as ad9, is related to alzheimer disease and simultanagnosia. An important gene associated with Alzheimer Disease 9 is ABCA7 (ATP Binding Cassette Subfamily A Member 7), and among its related pathways/superpathways are Parkinson disease and Neuroscience. Affiliated tissues include brain and cerebellum, and related phenotypes are abnormality of extrapyramidal motor function and memory impairment

Disease Ontology : 12 An Alzheimer's disease that has material basis in heterozygous mutation in ABCA7 on chromosome 19p13.3.

More information from OMIM: 608907

Related Diseases for Alzheimer Disease 9

Diseases in the Alzheimer Disease family:

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

Diseases related to Alzheimer Disease 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 29.9 SOD1 PSEN1 MAPT GSK3B DKK1 CDK5
2 simultanagnosia 10.4 MAPT ABCA7
3 alzheimer disease 15 10.3
4 alzheimer disease 19 10.3
5 alzheimer disease 14 10.2 MAPT GSK3B
6 primary lateral sclerosis, adult, 1 10.2 SOD1 MAPT
7 idiopathic gastroparesis 10.1 GHSR GHRL
8 oral tuberculosis 10.0 MMUT EHD1
9 aneurysmal bone cysts 10.0 MAPT GSK3B CDK5
10 barbiturate dependence 10.0 GSK3B EHD1
11 early-onset, autosomal dominant alzheimer disease 9.9 PSEN1 ABCA7
12 progressive non-fluent aphasia 9.9 PSEN1 MAPT
13 visual agnosia 9.9 PSEN1 MAPT
14 epilepsy, nocturnal frontal lobe, 1 9.8 SCN1A KCNA1
15 semantic dementia 9.8 PSEN1 MAPT
16 kohlschutter-tonz syndrome 9.6 PSEN1 MAPT
17 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.6 SOD1 PSEN1 MAPT
18 prion disease 9.5 SOD1 PSEN1 MAPT
19 vascular dementia 9.5 SOD1 PSEN1 MAPT
20 chromosomal disease 9.4 PSEN1 MAPT GHRL
21 toxic encephalopathy 9.4 SOD1 PSEN1 MAPT CDK5
22 supranuclear palsy, progressive, 1 9.4 SOD1 PSEN1 MAPT CDK5
23 pick disease of brain 9.3 SOD1 PSEN1 MAPT CDK5
24 dementia, lewy body 9.2 SOD1 PSEN1 MAPT CDK5 ABCA7
25 dementia 9.2 SOD1 PSEN1 MAPT GSK3B ABCA7
26 frontotemporal dementia 9.1 SOD1 PSEN1 MAPT GSK3B ABCA7

Graphical network of the top 20 diseases related to Alzheimer Disease 9:



Diseases related to Alzheimer Disease 9

Symptoms & Phenotypes for Alzheimer Disease 9

Human phenotypes related to Alzheimer Disease 9:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 abnormality of extrapyramidal motor function 31 occasional (7.5%) HP:0002071
2 memory impairment 31 HP:0002354
3 depressivity 31 HP:0000716
4 cerebral cortical atrophy 31 HP:0002120
5 disinhibition 31 HP:0000734
6 neurofibrillary tangles 31 HP:0002185
7 senile plaques 31 HP:0100256
8 alzheimer disease 31 HP:0002511
9 hippocampal atrophy 31 HP:0410170

Symptoms via clinical synopsis from OMIM:

56
Neurologic Behavioral Psychiatric Manifestations:
disinhibition
depression
frontal signs

Neurologic Central Nervous System:
senile plaques
alzheimer disease
hippocampal atrophy
cortical atrophy
memory loss, progressive
more

Clinical features from OMIM:

608907

GenomeRNAi Phenotypes related to Alzheimer Disease 9 according to GeneCards Suite gene sharing:

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 9.64 DNTT
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-107 9.64 TRPM2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-123 9.64 GSK3B
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-125 9.64 COG2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-137 9.64 GSK3B
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 9.64 GSK3B
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.64 COG2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.64 COG2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-163 9.64 COG2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.64 GSK3B
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.64 GSK3B
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.64 GSK3B
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-197 9.64 DNTT
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-202 9.64 GSK3B
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-3 9.64 TRPM2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-45 9.64 TRPM2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.64 GSK3B
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.64 GSK3B
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.64 COG2
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-94 9.64 DNTT
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.64 GSK3B

MGI Mouse Phenotypes related to Alzheimer Disease 9:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.22 ABCA7 CDK5 COG2 DKK1 DNTT EHD1
2 behavior/neurological MP:0005386 10.18 CDK5 GHRL GHSR GSK3B KCNA1 MAPT
3 cellular MP:0005384 10.11 DKK1 EHD1 GSK3B KCNA1 MAPT MMUT
4 mortality/aging MP:0010768 10.1 CDK5 COG2 DKK1 EHD1 GSK3B KCNA1
5 nervous system MP:0003631 9.93 CDK5 DKK1 GSK3B KCNA1 MAPT MMUT
6 normal MP:0002873 9.61 CDK5 DNTT EHD1 GHRL GSK3B MAPT
7 renal/urinary system MP:0005367 9.23 ABCA7 DKK1 GSK3B MAPT MMUT POU3F3

Drugs & Therapeutics for Alzheimer Disease 9

Search Clinical Trials , NIH Clinical Center for Alzheimer Disease 9

Genetic Tests for Alzheimer Disease 9

Genetic tests related to Alzheimer Disease 9:

# Genetic test Affiliating Genes
1 Alzheimer Disease, Type 9 29 ABCA7

Anatomical Context for Alzheimer Disease 9

MalaCards organs/tissues related to Alzheimer Disease 9:

40
Brain, Cerebellum

Publications for Alzheimer Disease 9

Articles related to Alzheimer Disease 9:

(show all 25)
# Title Authors PMID Year
1
Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study. 6 56
26141617 2015
2
Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease. 6 56
25807283 2015
3
ABCA7 rare variants and Alzheimer disease risk. 56
27037229 2016
4
Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants. 6
27066581 2016
5
Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci. 56
26101835 2015
6
DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. 56
23365052 2013
7
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. 56
21460840 2011
8
EFNS guidelines for the diagnosis and management of Alzheimer's disease. 6
20831773 2010
9
Preventing Alzheimer's disease and cognitive decline. 6
21500874 2010
10
A genome-wide linkage analysis of dementia in the Amish. 56
16389594 2006
11
Evidence for a novel late-onset Alzheimer disease locus on chromosome 19p13.2. 56
15248153 2004
12
Visual contrast sensitivity is associated with the presence of cerebral amyloid and tau deposition. 61
32309804 2020
13
11C-PIB PET imaging reveals that amyloid deposition in cases with early-onset Alzheimer's disease in the absence of known mutations retains higher levels of PIB in the basal ganglia. 61
28721032 2017
14
Planum temporale analysis via a new volumetric method in autoptic brains of demented and psychotic patients. 61
19199877 2009
15
Domperidone is effective in the prevention of rivastigmine-related gastrointestinal disturbances. 61
17637213 2007
16
A case-controlled study of altered visual art production in Alzheimer's and FTLD. 61
17356345 2007
17
Correlations between P300 components and neurotransmitters in the cerebrospinal fluid. 61
9472419 1998
18
Gap-43 message levels in anterior cerebellum in Alzheimer's disease. 61
9011750 1996
19
Al, Zn, Cu, Mn and Fe levels in brain in Alzheimer's disease. 61
15374228 1995
20
[Three-dimensional surface display with 123I-IMP brain perfusion imaging in patients with dementia]. 61
8026123 1994
21
Lack of variation in the nucleotide sequence corresponding to the transmembrane domain of the beta-amyloid precursor protein in Alzheimer's disease. 61
8291566 1993
22
Membrane-altering effects of velnacrine and N-methylacridinium: relevance to tacrine and Alzheimer's disease. 61
1319141 1992
23
Neuropsychological profile linked to low dopamine: in Alzheimer's disease, major depression, and Parkinson's disease. 61
2266376 1990
24
Distinguishing Alzheimer's disease from other dementias. Questionnaire responses of close relatives and autopsy results. 61
2654258 1989
25
[Alzheimer's disease: study by single photon emission tomography (Hm PAO Tc99m)]. 61
2799210 1989

Variations for Alzheimer Disease 9

ClinVar genetic disease variations for Alzheimer Disease 9:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCA7 NM_019112.3(ABCA7):c.2126_2132del (p.Glu709fs)deletion risk factor 225544 rs1555685376 19:1047508-1047514 19:1047509-1047515
2 ABCA7 NM_019112.4(ABCA7):c.3641G>A (p.Trp1214Ter)SNV Conflicting interpretations of pathogenicity 225545 rs201060968 19:1054255-1054255 19:1054256-1054256

UniProtKB/Swiss-Prot genetic disease variations for Alzheimer Disease 9:

73
# Symbol AA change Variation ID SNP ID
1 ABCA7 p.Arg880Gln VAR_081204 rs143718918

Expression for Alzheimer Disease 9

Search GEO for disease gene expression data for Alzheimer Disease 9.

Pathways for Alzheimer Disease 9

Pathways related to Alzheimer Disease 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 SOD1 PSEN1 MAPT GSK3B DKK1 CDK5
2 11.97 SOD1 SCN1A PSEN1 MAPT GSK3B CDK5
3 11.73 PSEN1 MAPT GSK3B CDK5
4 11.63 MAPT GSK3B DKK1 CDK5
5 11.31 SOD1 MAPT GSK3B
6 11.21 PSEN1 GSK3B DKK1
7 10.79 MAPT GSK3B CDK5
8 10.58 PSEN1 MAPT GSK3B CDK5

GO Terms for Alzheimer Disease 9

Cellular components related to Alzheimer Disease 9 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.25 TRPM2 SOD1 SCN1A PSEN1 MAPT KCNA1
2 cell projection GO:0042995 9.95 TRPM2 PSEN1 MAPT KCNA1 EHD1 CDK5
3 dendrite GO:0030425 9.85 PSEN1 MAPT KCNA1 GSK3B CDK5
4 glutamatergic synapse GO:0098978 9.77 KCNA1 GSK3B GHSR GHRL CDK5
5 Schaffer collateral - CA1 synapse GO:0098685 9.65 GHSR GHRL CDK5
6 neuron projection GO:0043005 9.63 TRPM2 SOD1 PSEN1 MAPT GHSR CDK5
7 early endosome membrane GO:0031901 9.62 PSEN1 EHD1 DKK1 ABCA7
8 postsynapse GO:0098794 9.56 GSK3B GHSR GHRL CDK5
9 neuronal cell body GO:0043025 9.5 TRPM2 SOD1 SCN1A PSEN1 MAPT KCNA1
10 glial cell projection GO:0097386 9.49 MAPT ABCA7
11 axon GO:0030424 9.17 SCN1A PSEN1 MAPT KCNA1 GSK3B GHRL

Biological processes related to Alzheimer Disease 9 according to GeneCards Suite gene sharing:

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 memory GO:0007613 9.8 PSEN1 MAPT ABCA7
2 hippocampus development GO:0021766 9.78 KCNA1 GSK3B CDK5
3 positive regulation of protein binding GO:0032092 9.77 PSEN1 GSK3B CDK5
4 forebrain development GO:0030900 9.77 PSEN1 DKK1 CDK5
5 learning or memory GO:0007611 9.74 PSEN1 GHSR DKK1
6 negative regulation of apoptotic process GO:0043066 9.73 SOD1 PSEN1 POU3F3 GSK3B GHRL DKK1
7 excitatory postsynaptic potential GO:0060079 9.72 GSK3B GHRL CDK5
8 neuron projection development GO:0031175 9.71 MAPT GSK3B EHD1 CDK5
9 regulation of synaptic plasticity GO:0048167 9.69 PSEN1 MAPT CDK5
10 cellular response to amyloid-beta GO:1904646 9.67 PSEN1 GSK3B CDK5
11 positive regulation of superoxide anion generation GO:0032930 9.66 SOD1 MAPT
12 negative regulation of interleukin-6 biosynthetic process GO:0045409 9.65 GHSR GHRL
13 negative regulation of interleukin-1 beta production GO:0032691 9.65 GHSR GHRL
14 negative regulation of tumor necrosis factor secretion GO:1904468 9.65 GHSR GHRL
15 astrocyte activation GO:0048143 9.64 PSEN1 MAPT
16 central nervous system neuron development GO:0021954 9.64 MAPT CDK5
17 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.63 SCN1A KCNA1
18 positive regulation of growth GO:0045927 9.62 GHSR GHRL
19 adult feeding behavior GO:0008343 9.62 GHSR GHRL
20 negative regulation of tumor necrosis factor biosynthetic process GO:0042536 9.61 GHSR GHRL
21 postsynaptic modulation of chemical synaptic transmission GO:0099170 9.58 GHSR GHRL
22 modulation of age-related behavioral decline GO:0090647 9.58 PSEN1 DKK1
23 synapse pruning GO:0098883 9.56 DKK1 CDK5
24 amyloid-beta formation GO:0034205 9.54 PSEN1 ABCA7
25 growth hormone secretion GO:0030252 9.52 GHSR GHRL
26 positive regulation of eating behavior GO:1904000 9.48 GHSR GHRL
27 regulation of transmission of nerve impulse GO:0051969 9.46 GHSR GHRL
28 positive regulation of appetite GO:0032100 9.43 GHSR GHRL
29 regulation of gastric motility GO:1905333 9.37 GHSR GHRL
30 regulation of synaptic transmission, glutamatergic GO:0051966 9.33 PSEN1 DKK1 CDK5
31 positive regulation of small intestine smooth muscle contraction GO:1904349 9.32 GHSR GHRL
32 positive regulation of small intestinal transit GO:0120058 8.96 GHSR GHRL
33 positive regulation of neuron death GO:1901216 8.92 MAPT GSK3B DKK1 CDK5

Molecular functions related to Alzheimer Disease 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynactin binding GO:0034452 8.62 MAPT GSK3B

Sources for Alzheimer Disease 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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