MCID: ALZ029
MIFTS: 23

Alzheimer Disease Mitochondrial

Categories: Genetic diseases

Aliases & Classifications for Alzheimer Disease Mitochondrial

MalaCards integrated aliases for Alzheimer Disease Mitochondrial:

Name: Alzheimer Disease Mitochondrial 57 75
Alzheimer Disease, Susceptibility to, Mitochondrial 57
Ad-Mt 75

Characteristics:

OMIM:

57
Inheritance:
? mitochondrial form
multiple autosomal dominant forms.


HPO:

32
alzheimer disease mitochondrial:
Onset and clinical course late onset


Classifications:



External Ids:

OMIM 57 502500
MedGen 42 C1838990
MeSH 44 D000544

Summaries for Alzheimer Disease Mitochondrial

UniProtKB/Swiss-Prot : 75 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 mitochondrial dna-associated leigh syndrome and narp and deafness, nonsyndromic sensorineural, mitochondrial. 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 is Metabolism. 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Alzheimer Disease Mitochondrial:

32
# Description HPO Frequency HPO Source Accession
1 dementia 32 HP:0000726
2 parkinsonism 32 HP:0001300
3 neurofibrillary tangles 32 HP:0002185
4 alzheimer disease 32 HP:0002511
5 long-tract signs 32 HP:0002423

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:

75
# 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.65 AKR1A1 MT-ND1 MT-ND2 PHYH SCO1

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 9.33 MT-ND1 MT-ND2 SCO1
2 respiratory chain GO:0070469 8.96 MT-ND1 MT-ND2
3 mitochondrial respiratory chain complex I GO:0005747 8.62 MT-ND1 MT-ND2

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 9.16 MT-ND1 MT-ND2
2 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.96 MT-ND1 MT-ND2
3 oxidation-reduction process GO:0055114 8.92 AKR1A1 MT-ND1 MT-ND2 PHYH

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 8.96 MT-ND1 MT-ND2
2 oxidoreductase activity GO:0016491 8.92 AKR1A1 MT-ND1 MT-ND2 PHYH

Sources for Alzheimer Disease Mitochondrial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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