AD7
MCID: ALZ053
MIFTS: 33

Alzheimer Disease 7 (AD7)

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

Aliases & Classifications for Alzheimer Disease 7

MalaCards integrated aliases for Alzheimer Disease 7:

Name: Alzheimer Disease 7 57 12 70
Alzheimer's Disease 7 12 15
Alzheimer Disease-7 57 13
Ad7 57 12
Alzheimer Disease, Familial, 7 57
Alzheimer Disease, Familial 7 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110039
OMIM® 57 606187
ICD10 32 G30
MedGen 41 C1853555
UMLS 70 C1853555

Summaries for Alzheimer Disease 7

Disease Ontology : 12 An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.

MalaCards based summary : Alzheimer Disease 7, also known as alzheimer's disease 7, is related to alzheimer disease and anosognosia. An important gene associated with Alzheimer Disease 7 is AD7 (Alzheimer Disease 7), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Neuroscience. Affiliated tissues include bone and brain, and related phenotypes are behavior/neurological and muscle

More information from OMIM: 606187

Related Diseases for Alzheimer Disease 7

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 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 29.7 VCP TARDBP SOD1 SNCA OPTN MAPT
2 anosognosia 10.3 C9orf72 APOE
3 amyotrophic lateral sclerosis type 15 10.2 VAPB SIGMAR1 C9orf72
4 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 10.2 TBK1 TARDBP
5 proximal spinal muscular atrophy 10.2 VAPB APOE
6 subjective cognitive decline 10.1 MAPT APOE
7 posterior cortical atrophy 10.1 MAPT APOE
8 alzheimer disease 10 10.1 MAPT APOE
9 gerstmann syndrome 10.1 MAPT APOE
10 visual agnosia 10.1 MAPT APOE
11 binswanger's disease 10.1 MAPT APOE
12 age-related hearing loss 10.1 MAPT APOE
13 corticobasal degeneration 10.1 TBK1 MAPT
14 prosopagnosia 10.1 TARDBP MAPT C9orf72
15 mutism 10.1 TARDBP MAPT C9orf72
16 optic atrophy 11 10.1 TOMM20 MFN2
17 spinal muscular atrophy, distal, autosomal recessive, 2 10.1 SIGMAR1 MFN2
18 epilepsy, idiopathic generalized 2 10.1 TARDBP MAPT C9orf72
19 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 10.1 FUS C9orf72
20 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 10.1 VCP FUS
21 apraxia 10.1 MAPT C9orf72 APOE
22 paget's disease of bone 10.1 VCP OPTN C9orf72
23 simultanagnosia 10.1 TARDBP MAPT APOE
24 chromosome 17q21.31 duplication syndrome 10.0 SNCA MAPT
25 alzheimer disease 2 10.0 MAPT APOE
26 combined oxidative phosphorylation deficiency 7 10.0 SNCA MFN2
27 amyotrophic lateral sclerosis 21 10.0 VAPB FUS
28 amyotrophic lateral sclerosis type 22 10.0 TARDBP FUS C9orf72
29 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.0 TARDBP FUS C9orf72
30 amyotrophic lateral sclerosis 18 10.0 VAPB SIGMAR1 FUS
31 coenzyme q10 deficiency, primary, 1 10.0 SNCA MAPT
32 echolalia 10.0 MAPT C9orf72
33 normal pressure hydrocephalus 10.0 MAPT C9orf72 APOE
34 amyotrophic lateral sclerosis 19 10.0 TARDBP SOD1
35 akinetic mutism 10.0 TARDBP SNCA MAPT
36 postencephalitic parkinson disease 10.0 TARDBP SNCA MAPT
37 head injury 10.0 SOD1 APOE
38 ophthalmomyiasis 10.0 TARDBP SOD1
39 early-onset, autosomal dominant alzheimer disease 10.0 VCP MAPT APOE
40 semantic dementia 9.9 TARDBP MAPT C9orf72 APOE
41 myositis 9.9 VCP SNCA MAPT
42 communicating hydrocephalus 9.9 SNCA MAPT APOE
43 rem sleep behavior disorder 9.9 SNCA MAPT APOE
44 scrapie 9.9 SNCA MAPT APOE
45 machado-joseph disease 9.9 VCP TARDBP SNCA APOE
46 alexia 9.9 VCP TARDBP MAPT APOE
47 cerebral amyloid angiopathy, cst3-related 9.9 SNCA MAPT APOE
48 dyscalculia 9.9 VCP TARDBP MAPT APOE
49 sleep disorder 9.9 SNCA MAPT APOE
50 inclusion body myositis 9.9 VCP TARDBP MAPT APOE

Graphical network of the top 20 diseases related to Alzheimer Disease 7:



Diseases related to Alzheimer Disease 7

Symptoms & Phenotypes for Alzheimer Disease 7

Clinical features from OMIM®:

606187 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Alzheimer Disease 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 APOE C9orf72 MAPT MFN2 SIGMAR1 SNCA
2 muscle MP:0005369 9.56 APOE MAPT MFN2 SGCA SOD1 TARDBP
3 no phenotypic analysis MP:0003012 9.28 APOE C9orf72 MAPT OPTN PALD1 SNCA

Drugs & Therapeutics for Alzheimer Disease 7

Search Clinical Trials , NIH Clinical Center for Alzheimer Disease 7

Genetic Tests for Alzheimer Disease 7

Anatomical Context for Alzheimer Disease 7

MalaCards organs/tissues related to Alzheimer Disease 7:

40
Bone, Brain

Publications for Alzheimer Disease 7

Articles related to Alzheimer Disease 7:

(show all 15)
# Title Authors PMID Year
1
D10S1423 identifies a susceptibility locus for Alzheimer's disease in a prospective, longitudinal, double-blind study of asymptomatic individuals. 57
11443525 2001
2
Allelic association between the D10S1423 marker and Alzheimer's disease in a German population. 57
10961670 2000
3
A genome survey for novel Alzheimer disease risk loci: results at 10-cM resolution. 57
9653640 1998
4
Acupuncture promotes expression of Hsp84/86 and delays brain ageing in SAMP8 mice. 61
31412703 2019
5
Compromised Grid-Cell-like Representations in Old Age as a Key Mechanism to Explain Age-Related Navigational Deficits. 61
29551413 2018
6
The inositol-requiring enzyme 1 (IRE1α) RNAse inhibitor, 4µ8C, is also a potent cellular antioxidant. 61
29463644 2018
7
DANUBE: Data-driven meta-ANalysis using UnBiased Empirical distributions-applied to biological pathway analysis. 61
29706661 2017
8
A Systematic Review of Intervention Studies Examining Nutritional and Herbal Therapies for Mild Cognitive Impairment and Dementia Using Neuroimaging Methods: Study Characteristics and Intervention Efficacy. 61
28303161 2017
9
A novel bi-level meta-analysis approach: applied to biological pathway analysis. 61
26471455 2016
10
Anterior-medial thalamic lesions in dementia: frequent, and volume dependently associated with sudden cognitive decline. 61
16868066 2006
11
Prediction of Driving Ability in Persons with Brain Disorders using Sensory-Motor and Cognitive Tests. 61
17281483 2005
12
Epidemiological dementia index: a screening instrument for Alzheimer's disease and other types of dementia suitable for use in populations with low education level. 61
9769446 1998
13
[Clinical and instrumental diagnosis of Alzheimer's and multi-infarct dementia]. 61
8966268 1996
14
Cerebrospinal fluid levels of diazepam-binding inhibitor in neurodegenerative disorders with dementia. 61
2138718 1990
15
EEG and cognitive impairment in presenile dementia. 61
474065 1979

Variations for Alzheimer Disease 7

Expression for Alzheimer Disease 7

Search GEO for disease gene expression data for Alzheimer Disease 7.

Pathways for Alzheimer Disease 7

Pathways related to Alzheimer Disease 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 VCP VAPB TBK1 TARDBP SOD1 SNCA
2 12.09 TOMM20 TARDBP SOD1 SNCA SIGMAR1 OPTN
3 11.16 TBK1 OPTN MFN2

GO Terms for Alzheimer Disease 7

Cellular components related to Alzheimer Disease 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.1 VCP VAPB TBK1 TARDBP SOD1 SNCA
2 cytoplasmic stress granule GO:0010494 9.54 VCP TARDBP C9orf72
3 mitochondrial outer membrane GO:0005741 9.46 TOMM20 SNCA RMDN3 MFN2
4 neuronal cell body GO:0043025 9.35 SOD1 SNCA MAPT FUS APOE
5 main axon GO:0044304 9.32 MAPT C9orf72
6 growth cone GO:0030426 8.92 SNCA SIGMAR1 MAPT C9orf72

Biological processes related to Alzheimer Disease 7 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.81 TBK1 TARDBP MAPT APOE
2 cellular calcium ion homeostasis GO:0006874 9.67 VAPB RMDN3 APOE
3 macroautophagy GO:0016236 9.65 VCP TOMM20 MFN2
4 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.61 VCP SNCA MAPT
5 positive regulation of endocytosis GO:0045807 9.58 SNCA APOE
6 negative regulation of protein phosphorylation GO:0001933 9.58 TARDBP SNCA C9orf72
7 regulation of neuron death GO:1901214 9.57 TBK1 SNCA
8 stress granule assembly GO:0034063 9.56 MAPT C9orf72
9 autophagy GO:0006914 9.56 VCP OPTN MFN2 C9orf72
10 positive regulation of superoxide anion generation GO:0032930 9.55 SOD1 MAPT
11 response to reactive oxygen species GO:0000302 9.54 SOD1 APOE
12 regulation of neuronal synaptic plasticity GO:0048168 9.52 SNCA APOE
13 supramolecular fiber organization GO:0097435 9.46 SNCA MAPT
14 negative regulation of cholesterol biosynthetic process GO:0045541 9.37 SOD1 APOE
15 positive regulation of xenophagy GO:1904417 9.32 TBK1 OPTN
16 mitochondrial membrane organization GO:0007006 9.16 SNCA MFN2
17 parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization GO:0061734 8.96 OPTN MFN2
18 gene expression GO:0010467 8.8 TARDBP FUS APOE

Molecular functions related to Alzheimer Disease 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.46 VAPB SNCA RMDN3 MAPT
2 identical protein binding GO:0042802 9.32 VCP TBK1 TARDBP SOD1 SNCA SIGMAR1
3 lipoprotein particle binding GO:0071813 8.96 MAPT APOE

Sources for Alzheimer Disease 7

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
Content
Loading form....