Alzheimer Disease Mitochondrial disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Alzheimer Disease Mitochondrial

MalaCards integrated aliases for Alzheimer Disease Mitochondrial:

Name: Alzheimer Disease Mitochondrial ⁵⁷ ⁷³

Alzheimer Disease, Susceptibility to, Mitochondrial ⁵⁷

Ad-Mt ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
? mitochondrial form
multiple autosomal dominant forms.

HPO:

³¹

alzheimer disease mitochondrial:
Inheritance autosomal dominant inheritance mitochondrial inheritance
Onset and clinical course late onset

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 502500

MeSH ⁴⁴ D000544

MedGen ⁴¹ C1838990

SNOMED-CT via HPO ⁶⁸ 230267005 263681008 26929004 more

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Summaries for Alzheimer Disease Mitochondrial

UniProtKB/Swiss-Prot : ⁷³ 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 severe congenital neutropenia 1 and thelaziasis. 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 Prion disease and GABAergic synapse. Related phenotypes are dementia and parkinsonism

More information from OMIM: 502500

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Related Diseases for Alzheimer Disease Mitochondrial

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

(show all 21)

#	Related Disease	Score	Top Affiliating Genes
1	severe congenital neutropenia 1	9.8	MT-ND2 MT-ND1
2	thelaziasis	9.8	MT-ND2 MT-ND1
3	dicrocoeliasis	9.8	MT-ND2 MT-ND1
4	baylisascariasis	9.8	MT-ND2 MT-ND1
5	mitochondrial myopathy, infantile, transient	9.8	MT-ND2 MT-ND1
6	mitochondrial myopathy	9.8	MT-ND2 MT-ND1
7	hereditary optic neuropathy	9.8	MT-ND2 MT-ND1
8	neuropathy	9.8	MT-ND2 MT-ND1
9	pthirus pubis infestation	9.8	MT-ND2 MT-ND1
10	lice infestation	9.8	MT-ND2 MT-ND1
11	parasitic ectoparasitic infectious disease	9.8	MT-ND2 MT-ND1
12	cranial nerve disease	9.8	MT-ND2 MT-ND1
13	myoclonic epilepsy associated with ragged-red fibers	9.8	MT-ND2 MT-ND1
14	mitochondrial encephalomyopathy	9.7	MT-ND2 MT-ND1
15	optic nerve disease	9.7	MT-ND2 MT-ND1
16	kearns-sayre syndrome	9.7	MT-ND2 MT-ND1
17	leber hereditary optic neuropathy, modifier of	9.7	MT-ND2 MT-ND1
18	mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	9.7	MT-ND2 MT-ND1
19	mitochondrial complex i deficiency, nuclear type 1	9.6	MT-ND2 MT-ND1
20	leber plus disease	9.6	MT-ND2 MT-ND1
21	leigh syndrome	9.5	MT-ND2 MT-ND1

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

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Symptoms & Phenotypes for Alzheimer Disease Mitochondrial

Human phenotypes related to Alzheimer Disease Mitochondrial:

³¹

#	Description	HPO Source Accession
1	dementia ³¹	HP:0000726
2	parkinsonism ³¹	HP:0001300
3	neurofibrillary tangles ³¹	HP:0002185
4	alzheimer disease ³¹	HP:0002511
5	long-tract signs ³¹	HP:0002423

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Alzheimer Disease Mitochondrial

Search Clinical Trials , NIH Clinical Center for Alzheimer Disease Mitochondrial

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Genetic Tests for Alzheimer Disease Mitochondrial

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Anatomical Context for Alzheimer Disease Mitochondrial

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Publications for Alzheimer Disease Mitochondrial

Articles related to Alzheimer Disease Mitochondrial:

(show all 15)

#	Title	Authors	PMID	Year
1	Evidence that two reports of mtDNA cytochrome c oxidase "mutations" in Alzheimer's disease are based on nDNA pseudogenes of recent evolutionary origin. ⁵⁷	Davis JN...Parker WD	9535760	1998
2	Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations. ⁵⁷	Wallace DC...Brown MD	9405711	1997
3	Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes. ⁵⁷	Hirano M...Schon EA	9405710	1997
4	Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease. ⁵⁷	Davis RE...Parker WD	9114023	1997
5	The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years. ⁵⁷	Tysoe C...Rubinsztein DC	9004131	1996
6	A mitochondrial DNA clone is associated with increased risk for Alzheimer disease. ⁵⁷	Hutchin T...Cortopassi G	7624338	1995
7	Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. ⁵⁷	Shoffner JM...Salvo R	8104867	1993
8	Is a point mutation in the mitochondrial ND2 gene associated with Alzheimer's disease. ⁵⁷	Petruzzella V...Schon EA	1352971	1992
9	Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains. ⁵⁷	Lin FH...Iqbal K	1370613	1992
10	HeLaTG cells have mitochondrial DNA inserted into the c-myc oncogene. ⁵⁷	Shay JW...Cuthbert JA	1923509	1991
11	Mitochondrial biogenesis mediated by melatonin in an APPswe/PS1dE9 transgenic mice model. ⁶¹	Song C...Xie Z	30303857	2018
12	The role of metallothionein in a dinitrofluorobenzene-induced atopic dermatitis-like murine model. ⁶¹	Guo JZ...Wang J	30042397	2018
13	Complex disposition of methylthioninium redox forms determines efficacy in tau aggregation inhibitor therapy for Alzheimer's disease. ⁶¹	Baddeley TC...Wischik CM	25320049	2015
14	Viral genome DNA/lipoplexes elicit in situ oncolytic viral replication and potent antitumor efficacy via systemic delivery. ⁶¹	Kwon OJ...Yun CO	21699929	2011
15	Elevated c-Src protein expression is an early event in colonic neoplasia. ⁶¹	Iravani S...Coppola D	9520949	1998

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Genes for Alzheimer Disease Mitochondrial

Genes related to Alzheimer Disease Mitochondrial (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MT-ND1	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1	Protein Coding	315.95	Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)
2	MT-ND2	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 2	Protein Coding	315.95	Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)

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Variations for Alzheimer Disease Mitochondrial

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

⁷³

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

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Expression for Alzheimer Disease Mitochondrial

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

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Pathways for Alzheimer Disease Mitochondrial

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

#	Super pathways	Score	Top Affiliating Genes
1	Prion disease ³⁶ Show member pathways Parkinson disease ³⁶	11.67	MT-ND2 MT-ND1
2	GABAergic synapse ³⁶ Show member pathways Morphine addiction ³⁶ Retrograde endocannabinoid signaling ³⁶	11.14	MT-ND2 MT-ND1

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

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

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidation-reduction process	GO:0055114	9.16	MT-ND2 MT-ND1
2	mitochondrial respiratory chain complex I assembly	GO:0032981	8.96	MT-ND2 MT-ND1
3	mitochondrial electron transport, NADH to ubiquinone	GO:0006120	8.62	MT-ND2 MT-ND1

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-ND2 MT-ND1

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Sources for Alzheimer Disease Mitochondrial

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Alzheimer Disease Mitochondrial (AD-MT)

Aliases & Classifications for Alzheimer Disease Mitochondrial

MalaCards integrated aliases for Alzheimer Disease Mitochondrial:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Alzheimer Disease Mitochondrial

Related Diseases for Alzheimer Disease Mitochondrial

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

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

Symptoms & Phenotypes for Alzheimer Disease Mitochondrial

Human phenotypes related to Alzheimer Disease Mitochondrial:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Alzheimer Disease Mitochondrial

Genetic Tests for Alzheimer Disease Mitochondrial

Anatomical Context for Alzheimer Disease Mitochondrial

Publications for Alzheimer Disease Mitochondrial

Articles related to Alzheimer Disease Mitochondrial:

Genes for Alzheimer Disease Mitochondrial

Genes related to Alzheimer Disease Mitochondrial (2 elite genes):

Variations for Alzheimer Disease Mitochondrial

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

Expression for Alzheimer Disease Mitochondrial

Pathways for Alzheimer Disease Mitochondrial

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

GO Terms for Alzheimer Disease Mitochondrial

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

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

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

Sources for Alzheimer Disease Mitochondrial