AD-MT
MCID: ALZ029
MIFTS: 27

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
Inheritance autosomal dominant inheritance mitochondrial inheritance


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. Affiliated tissues include brain, and related phenotypes are dementia and parkinsonism

Description from OMIM: 502500

Related Diseases for Alzheimer Disease Mitochondrial

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

MalaCards organs/tissues related to Alzheimer Disease Mitochondrial:

42
Brain

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 mitochondrial inner membrane GO:0005743 9.58 MT-ND1 MT-ND2 SCO1
2 respiratory chain GO:0070469 9.37 MT-ND1 MT-ND2
3 membrane raft GO:0045121 9.33 APP MAPT VDAC1
4 mitochondrial respiratory chain complex I GO:0005747 9.32 MT-ND1 MT-ND2
5 mitochondrial nucleoid GO:0042645 9.26 TFAM VDAC1
6 mitochondrion GO:0005739 9.1 HSD17B10 MAPT MT-ND1 SCO1 TFAM VDAC1
7 main axon GO:0044304 8.96 APP MAPT

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex I assembly GO:0032981 9.43 MT-ND1 MT-ND2
2 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.4 MT-ND1 MT-ND2
3 synapse organization GO:0050808 9.37 APP MAPT
4 cellular response to nerve growth factor stimulus GO:1990090 9.32 APP MAPT
5 response to lead ion GO:0010288 9.26 APP MAPT
6 cellular copper ion homeostasis GO:0006878 9.16 APP SCO1
7 astrocyte activation GO:0048143 8.96 APP MAPT
8 amyloid fibril formation GO:1990000 8.62 APP MAPT

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

# Name GO ID Score Top Affiliating Genes
1 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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