AD9
MCID: ALZ045
MIFTS: 45

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 57 72 13 70
Ad9 57 12 72
Alzheimer Disease, Type 9 29 6
Alzheimer's Disease 9 12 15
Alzheimer Disease 9, Susceptibility to 57
Alzheimer's Disease 9, Late Onset 12
Alzheimer Disease 9, Late-Onset 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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 : 72 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 idiopathic gastroparesis. An important gene associated with Alzheimer Disease 9 is ABCA7 (ATP Binding Cassette Subfamily A Member 7), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Brain-Derived Neurotrophic Factor (BDNF) signaling pathway. Affiliated tissues include brain, cerebellum and bone, and related phenotypes are abnormality of extrapyramidal motor function and depressivity

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 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 Disease 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 29.0 SOD1 SNCA PSEN1 MAPT INS GSK3B
2 idiopathic gastroparesis 10.2 GHSR GHRL
3 developmental and epileptic encephalopathy 14 10.2 SCN1A KCNA1
4 epilepsy, nocturnal frontal lobe, 1 10.2 SCN1A KCNA1
5 alexia 10.1 MAPT ABCA7
6 ophthalmomyiasis 10.1 SOD1 GSK3B
7 gerstmann syndrome 10.0 PSEN1 MAPT
8 visual agnosia 10.0 PSEN1 MAPT
9 alzheimer disease 15 10.0
10 alzheimer disease 19 10.0
11 chromosome 17q21.31 duplication syndrome 10.0 SNCA MAPT
12 ideomotor apraxia 9.9 SNCA MAPT
13 nominal aphasia 9.9 PSEN1 MAPT
14 mild cognitive impairment 9.9 SOD1 MAPT
15 progressive non-fluent aphasia 9.9 PSEN1 MAPT
16 semantic dementia 9.9 PSEN1 MAPT
17 akinetic mutism 9.9 SNCA MAPT
18 giant axonal neuropathy 2 9.9 SOD1 CDK5
19 postencephalitic parkinson disease 9.9 SNCA MAPT
20 coenzyme q10 deficiency, primary, 1 9.9 SNCA MAPT
21 aneurysmal bone cysts 9.9 MAPT GSK3B CDK5
22 focal epilepsy 9.9 SCN1A MAPT KCNA1
23 postgastrectomy syndrome 9.9 INS GHRL
24 simultanagnosia 9.9 PSEN1 MAPT ABCA7
25 early-onset, autosomal dominant alzheimer disease 9.9 PSEN1 MAPT ABCA7
26 diencephalic astrocytoma 9.9 INS GHRL
27 chronic wasting disease 9.9 SOD1 SNCA
28 arteriolosclerosis 9.8 SNCA MAPT
29 alzheimer disease 2 9.8 PSEN1 MAPT
30 leukoencephalopathy, hereditary diffuse, with spheroids 9.8 SNCA SCN1A MAPT
31 multiple system atrophy 1 9.8 SNCA MAPT CDK5
32 parkinson disease 1, autosomal dominant 9.8 SNCA MAPT GSK3B
33 scrapie 9.8 SNCA MAPT CDK5
34 parkinson disease 3, autosomal dominant 9.8 SNCA MAPT
35 pica disease 9.8 MAPT INS
36 alzheimer disease 7 9.8 SOD1 SNCA MAPT
37 functional gastric disease 9.8 INS GHSR GHRL
38 kuru 9.8 SOD1 SNCA MAPT
39 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 9.8 SOD1 SNCA MAPT
40 ileus 9.7 INS GHSR GHRL
41 vascular dementia 9.7 SOD1 PSEN1 MAPT
42 communicating hydrocephalus 9.7 SNCA PSEN1 MAPT
43 gerstmann-straussler disease 9.7 SNCA PSEN1 MAPT
44 prion disease 9.7 SOD1 SNCA MAPT
45 aphasia 9.7 SNCA PSEN1 MAPT
46 cerebral amyloid angiopathy, cst3-related 9.7 SNCA PSEN1 MAPT
47 acromegaly 9.7 INS GHSR GHRL
48 cerebellar disease 9.7 SOD1 SNCA MAPT
49 anorexia nervosa 9.6 INS GHSR GHRL
50 autosomal dominant cerebellar ataxia 9.6 SOD1 SNCA MAPT KCNA1

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 depressivity 31 HP:0000716
3 cerebral cortical atrophy 31 HP:0002120
4 memory impairment 31 HP:0002354
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®:

57 (Updated 20-May-2021)
Neurologic Behavioral Psychiatric Manifestations:
disinhibition
depression
frontal signs

Neurologic Central Nervous System:
senile plaques
alzheimer disease
hippocampal atrophy
cortical atrophy
extrapyramidal signs (in some patients)
more

Clinical features from OMIM®:

608907 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Alzheimer Disease 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.29 ABCA7 CDK5 GHRL GHSR GSK3B INS
2 homeostasis/metabolism MP:0005376 10.22 ABCA7 CDK5 DKK1 GHRL GHSR GSK3B
3 cardiovascular system MP:0005385 10.11 ABCA7 GSK3B INS KCNA1 MAPT PSEN1
4 mortality/aging MP:0010768 10.11 CDK5 DKK1 GSK3B INS KCNA1 MAPT
5 nervous system MP:0003631 10.03 ABCA7 CDK5 DKK1 GSK3B INS KCNA1
6 digestive/alimentary MP:0005381 9.98 GHRL GHSR GSK3B INS PPT2 PSEN1
7 muscle MP:0005369 9.87 GSK3B INS KCNA1 MAPT PPT2 PSEN1
8 no phenotypic analysis MP:0003012 9.63 CDK5 GHSR GSK3B INS MAPT SNCA
9 normal MP:0002873 9.56 CDK5 GHRL GSK3B INS MAPT PSEN1
10 renal/urinary system MP:0005367 9.23 ABCA7 DKK1 GSK3B INS MAPT PPT2

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, Bone

Publications for Alzheimer Disease 9

Articles related to Alzheimer Disease 9:

(show all 26)
# Title Authors PMID Year
1
Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study. 57 6
26141617 2015
2
Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease. 57 6
25807283 2015
3
Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation. 57
27037232 2016
4
ABCA7 rare variants and Alzheimer disease risk. 57
27037229 2016
5
Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants. 6
27066581 2016
6
Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci. 57
26101835 2015
7
DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. 57
23365052 2013
8
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. 57
21460840 2011
9
A genome-wide linkage analysis of dementia in the Amish. 57
16389594 2006
10
Evidence for a novel late-onset Alzheimer disease locus on chromosome 19p13.2. 57
15248153 2004
11
Preliminary Validation of the Global Neuropsychological Assessment in Alzheimer's Disease and Healthy Volunteers. 61
33563054 2021
12
A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9. 61
32844072 2020
13
Visual contrast sensitivity is associated with the presence of cerebral amyloid and tau deposition. 61
32309804 2020
14
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
15
Planum temporale analysis via a new volumetric method in autoptic brains of demented and psychotic patients. 61
19199877 2009
16
Domperidone is effective in the prevention of rivastigmine-related gastrointestinal disturbances. 61
17637213 2007
17
A case-controlled study of altered visual art production in Alzheimer's and FTLD. 61
17356345 2007
18
Correlations between P300 components and neurotransmitters in the cerebrospinal fluid. 61
9472419 1998
19
Gap-43 message levels in anterior cerebellum in Alzheimer's disease. 61
9011750 1996
20
Al, Zn, Cu, Mn and Fe levels in brain in Alzheimer's disease. 61
15374228 1995
21
[Three-dimensional surface display with 123I-IMP brain perfusion imaging in patients with dementia]. 61
8026123 1994
22
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
23
Membrane-altering effects of velnacrine and N-methylacridinium: relevance to tacrine and Alzheimer's disease. 61
1319141 1992
24
Neuropsychological profile linked to low dopamine: in Alzheimer's disease, major depression, and Parkinson's disease. 61
2266376 1990
25
Distinguishing Alzheimer's disease from other dementias. Questionnaire responses of close relatives and autopsy results. 61
2654258 1989
26
[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 Position
1 ABCA7 NM_019112.4(ABCA7):c.3641G>A (p.Trp1214Ter) SNV risk factor 225545 rs201060968 GRCh37: 19:1054255-1054255
GRCh38: 19:1054256-1054256
2 ABCA7 NM_019112.3(ABCA7):c.2126_2132del (p.Glu709fs) Deletion risk factor 225544 rs547447016 GRCh37: 19:1047508-1047514
GRCh38: 19:1047509-1047515
3 ABCA7 NM_019112.4(ABCA7):c.4561A>C (p.Lys1521Gln) SNV Uncertain significance 930746 GRCh37: 19:1056473-1056473
GRCh38: 19:1056474-1056474
4 ABCA7 NM_019112.4(ABCA7):c.6253G>A (p.Asp2085Asn) SNV Uncertain significance 930747 GRCh37: 19:1065138-1065138
GRCh38: 19:1065139-1065139

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

72
# 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

GO Terms for Alzheimer Disease 9

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.2 SOD1 SNCA SCN1A PSEN1 MAPT KCNA1
2 dendrite GO:0030425 9.8 PSEN1 MAPT KCNA1 GSK3B CDK5
3 neuron projection GO:0043005 9.77 SOD1 PSEN1 MAPT GHSR CDK5
4 glutamatergic synapse GO:0098978 9.65 KCNA1 GSK3B GHSR GHRL CDK5
5 growth cone GO:0030426 9.62 SNCA PSEN1 MAPT CDK5
6 Schaffer collateral - CA1 synapse GO:0098685 9.61 GHSR GHRL CDK5
7 neuronal cell body GO:0043025 9.5 SOD1 SNCA SCN1A PSEN1 MAPT KCNA1
8 glial cell projection GO:0097386 9.48 MAPT ABCA7
9 postsynapse GO:0098794 9.46 GSK3B GHSR GHRL CDK5
10 axon GO:0030424 9.23 SNCA SCN1A PSEN1 MAPT KCNA1 GSK3B

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

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.86 SOD1 SNCA PSEN1
2 neuron projection development GO:0031175 9.85 MAPT GSK3B CDK5
3 negative regulation of inflammatory response GO:0050728 9.85 SOD1 GHSR GHRL
4 negative regulation of apoptotic process GO:0043066 9.8 SOD1 SNCA PSEN1 GSK3B GHRL DKK1
5 memory GO:0007613 9.78 PSEN1 MAPT ABCA7
6 positive regulation of protein binding GO:0032092 9.75 PSEN1 GSK3B CDK5
7 hippocampus development GO:0021766 9.74 KCNA1 GSK3B CDK5
8 negative regulation of neuron death GO:1901215 9.73 SNCA GSK3B CDK5
9 synapse organization GO:0050808 9.71 SNCA PSEN1 MAPT
10 cellular response to amyloid-beta GO:1904646 9.7 PSEN1 GSK3B CDK5
11 positive regulation of glycolytic process GO:0045821 9.69 PSEN1 INS
12 regulation of protein localization to plasma membrane GO:1903076 9.68 INS CDK5
13 actin polymerization or depolymerization GO:0008154 9.68 GHSR GHRL
14 positive regulation of superoxide anion generation GO:0032930 9.68 SOD1 MAPT
15 regulation of postsynapse organization GO:0099175 9.67 GHSR GHRL
16 central nervous system neuron development GO:0021954 9.67 MAPT CDK5
17 synaptic vesicle transport GO:0048489 9.66 SNCA CDK5
18 astrocyte activation GO:0048143 9.66 PSEN1 MAPT
19 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.65 SCN1A KCNA1
20 behavioral response to cocaine GO:0048148 9.65 SNCA CDK5
21 positive regulation of receptor recycling GO:0001921 9.65 SNCA PSEN1
22 supramolecular fiber organization GO:0097435 9.64 SNCA MAPT
23 positive regulation of growth GO:0045927 9.64 GHSR GHRL
24 synaptic transmission, dopaminergic GO:0001963 9.63 SNCA CDK5
25 neuron projection maintenance GO:1990535 9.63 PSEN1 INS
26 amyloid-beta formation GO:0034205 9.62 PSEN1 ABCA7
27 adult feeding behavior GO:0008343 9.62 GHSR GHRL
28 modulation of age-related behavioral decline GO:0090647 9.61 PSEN1 DKK1
29 postsynaptic modulation of chemical synaptic transmission GO:0099170 9.6 GHSR GHRL
30 synapse pruning GO:0098883 9.59 DKK1 CDK5
31 regulation of transmembrane transporter activity GO:0022898 9.58 SNCA INS
32 learning or memory GO:0007611 9.56 PSEN1 MAPT GHSR DKK1
33 growth hormone secretion GO:0030252 9.55 GHSR GHRL
34 positive regulation of eating behavior GO:1904000 9.51 GHSR GHRL
35 regulation of transmission of nerve impulse GO:0051969 9.49 GHSR GHRL
36 positive regulation of appetite GO:0032100 9.48 GHSR GHRL
37 regulation of gastric motility GO:1905333 9.46 GHSR GHRL
38 excitatory postsynaptic potential GO:0060079 9.46 SNCA GSK3B GHRL CDK5
39 positive regulation of small intestine smooth muscle contraction GO:1904349 9.43 GHSR GHRL
40 regulation of synaptic vesicle recycling GO:1903421 9.4 SNCA CDK5
41 positive regulation of small intestinal transit GO:0120058 9.37 GHSR GHRL
42 regulation of synaptic plasticity GO:0048167 9.26 PSEN1 MAPT INS CDK5
43 positive regulation of neuron death GO:1901216 9.02 SNCA 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 tau-protein kinase activity GO:0050321 9.16 GSK3B CDK5
2 dynactin binding GO:0034452 8.96 MAPT GSK3B
3 tau protein binding GO:0048156 8.8 SNCA GSK3B CDK5

Sources for Alzheimer Disease 9

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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