AD-MT
MCID: ALZ029
MIFTS: 28

Alzheimer Disease Mitochondrial (AD-MT)

Categories: Genetic diseases

Aliases & Classifications for Alzheimer Disease Mitochondrial

MalaCards integrated aliases for Alzheimer Disease Mitochondrial:

Name: Alzheimer Disease Mitochondrial 58 76
Alzheimer Disease, Susceptibility to, Mitochondrial 58
Ad-Mt 76

Characteristics:

OMIM:

58
Inheritance:
? mitochondrial form
multiple autosomal dominant forms.


HPO:

33
alzheimer disease mitochondrial:
Onset and clinical course late onset


Classifications:



External Ids:

OMIM 58 502500
MeSH 45 D000544
MedGen 43 C1838990

Summaries for Alzheimer Disease Mitochondrial

UniProtKB/Swiss-Prot : 76 Alzheimer disease mitochondrial: 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 Mitochondrial, also known as alzheimer disease, susceptibility to, mitochondrial, is related to alzheimer disease and leber optic atrophy. An important gene associated with Alzheimer Disease Mitochondrial is MT-ND1 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Neuroscience. Related phenotypes are dementia and parkinsonism

Description from OMIM: 502500

Related Diseases for Alzheimer Disease Mitochondrial

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 29.0 APOE APP MT-ND1 MT-ND2
2 leber optic atrophy 10.1 MT-ND1 MT-ND2
3 deafness, nonsyndromic sensorineural, mitochondrial 10.1 MT-ND1 MT-ND2
4 aging 10.1
5 kearns-sayre syndrome 10.0 MT-ND1 MT-ND2
6 mitochondrial encephalomyopathy 10.0 MT-ND1 MT-ND2
7 mitochondrial myopathy 10.0 MT-ND1 MT-ND2
8 leber hereditary optic neuropathy 9.9 MT-ND1 MT-ND2
9 dural sinus malformation 9.9
10 senile plaque formation 9.8 APOE APP
11 alzheimer's disease 1 9.8 APOE APP
12 gait apraxia 9.8 APOE APP
13 kohlschutter-tonz syndrome 9.8 APOE APP
14 binswanger's disease 9.8 APOE APP
15 alzheimer disease 2 9.8 APOE APP
16 hemorrhage, intracerebral 9.8 APOE APP
17 supranuclear palsy, progressive, 1 9.8 APOE APP
18 aphasia 9.8 APOE APP
19 pick disease of brain 9.8 APOE APP
20 cerebral amyloid angiopathy, cst3-related 9.8 APOE APP
21 inclusion body myositis 9.8 APOE APP
22 vascular dementia 9.8 APOE APP
23 dementia, lewy body 9.8 APOE APP
24 disease of mental health 9.8 APOE APP
25 amyloidosis 9.7 APOE APP
26 cerebrovascular disease 9.7 APOE APP
27 nervous system disease 9.7 APOE APP
28 central nervous system disease 9.7 APOE APP
29 frontotemporal dementia 9.6 APOE APP
30 ischemia 9.6 APP P2RX7
31 diabetes mellitus, noninsulin-dependent 9.6 APOE MT-ND1 MT-ND2
32 hydrocephalus 9.6 APOE APP
33 parkinson disease, late-onset 9.3 APOE APP MT-ND1 MT-ND2

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



Diseases related to Alzheimer Disease Mitochondrial

Symptoms & Phenotypes for Alzheimer Disease Mitochondrial

Human phenotypes related to Alzheimer Disease Mitochondrial:

33
# Description HPO Frequency HPO Source Accession
1 dementia 33 HP:0000726
2 parkinsonism 33 HP:0001300
3 neurofibrillary tangles 33 HP:0002185
4 alzheimer disease 33 HP:0002511
5 long-tract signs 33 HP:0002423

Symptoms via clinical synopsis from OMIM:

58
Neuro:
presenile and senile dementia. parkinsonism. long tract signs.

Lab:
neurofibrillary tangles composed of disordered microtubules in neurons.

Misc:
late onset.

Clinical features from OMIM:

502500

Drugs & Therapeutics for Alzheimer Disease Mitochondrial

Search Clinical Trials , NIH Clinical Center for Alzheimer Disease Mitochondrial

Genetic Tests for Alzheimer Disease Mitochondrial

Anatomical Context for Alzheimer Disease Mitochondrial

Publications for Alzheimer Disease Mitochondrial

Variations for Alzheimer Disease Mitochondrial

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

76
# Symbol AA change Variation ID SNP ID
1 MT-ND1 p.Met31Val VAR_004750 rs199476120
2 MT-ND2 p.Ala331Ser VAR_004758

Expression for Alzheimer Disease Mitochondrial

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

Pathways for Alzheimer Disease Mitochondrial

GO Terms for Alzheimer Disease Mitochondrial

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

# Name GO ID Score Top Affiliating Genes
1 neuromuscular junction GO:0031594 9.26 APP P2RX7
2 respiratory chain GO:0070469 9.16 MT-ND1 MT-ND2
3 mitochondrial respiratory chain complex I GO:0005747 8.96 MT-ND1 MT-ND2
4 neuronal cell body GO:0043025 8.8 APOE MT-ND1 P2RX7

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

# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.46 MT-ND1 P2RX7
2 response to oxidative stress GO:0006979 9.43 APOE APP
3 positive regulation of catalytic activity GO:0043085 9.4 APOE P2RX7
4 cholesterol metabolic process GO:0008203 9.37 APOE APP
5 mitochondrial respiratory chain complex I assembly GO:0032981 9.32 MT-ND1 MT-ND2
6 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.26 MT-ND1 MT-ND2
7 reactive oxygen species metabolic process GO:0072593 9.16 MT-ND2 P2RX7
8 negative regulation of long-term synaptic potentiation GO:1900272 8.96 APOE APP
9 positive regulation of amyloid fibril formation GO:1905908 8.62 APOE APP

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 8.96 APOE APP
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.62 MT-ND1 MT-ND2

Sources for Alzheimer Disease Mitochondrial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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