MCID: MTC015
MIFTS: 22

Mitochondrial Dna-Associated Leigh Syndrome and Narp malady

Category: Genetic diseases (common)

Aliases & Classifications for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Aliases & Descriptions for Mitochondrial Dna-Associated Leigh Syndrome and Narp:

Name: Mitochondrial Dna-Associated Leigh Syndrome and Narp 21 22 24
Mtdna-Associated Leigh Syndrome and Narp 22
 
Mtdna-Associated Leigh Syndromenarp 21

Classifications:



Summaries for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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MalaCards based summary: Mitochondrial Dna-Associated Leigh Syndrome and Narp, also known as mtdna-associated leigh syndrome and narp, is related to leigh syndrome and hypokalemic periodic paralysis, type 2. An important gene associated with Mitochondrial Dna-Associated Leigh Syndrome and Narp is MT-ATP6 (Mitochondrially Encoded ATP Synthase 6), and among its related pathways are tRNA Aminoacylation and Alzheimers disease. Affiliated tissues include thymus.

GeneReviews summary for NBK1173

Related Diseases for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Diseases related to Mitochondrial Dna-Associated Leigh Syndrome and Narp via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1leigh syndrome22.4BCS1L, COX15, FOXRED1, MT-ATP6, MT-CO3, MT-ND1
2hypokalemic periodic paralysis, type 210.6COX15, SURF1
3otof-related deafness10.6NDUFA12, NDUFAF6
4cardiofacial syndrome short limbs10.4COX15, SURF1
5leptin deficiency10.4MT-CO3, SURF1
6porokeratosis 7, multiple types10.4MT-ND1, MT-ND2
7deafness-encephaloneuropathy-obesity-valvulopathy syndrome10.3COX15, MT-CO3, SURF1
8echinococcosis10.3MT-ATP6, MT-ND1
9cholera10.3MT-ATP6, MT-ND1
10mitochondrial dna-associated leigh syndrome10.2
11cysticercosis10.1MT-ND3, MT-ND5
12encephalopathy10.0MT-ND3, SURF1
13digeorge syndrome 210.0MT-TK, MT-TL1
14mertk-related retinitis pigmentosa10.0MT-TK, MT-TL1
15leigh syndrome with nephrotic syndrome9.8COX15, FOXRED1, NDUFA12, NDUFAF6, NDUFS3, SURF1
16parkinson disease 6, early onset9.8MT-ND5, MT-ND6
17mitochondrial complex iv deficiency9.8COX15, MT-CO3, MT-TL1, SURF1
18encephalopathy due to prosaposin deficiency9.8MT-CO3, MT-ND1, MT-ND4, MT-ND5
19matsoukas liarikos giannika syndrome9.7MT-CO3, MT-TK, MT-TL1
20mitochondrial dna-associated leigh syndrome and narp9.6BCS1L, COX15, FOXRED1, NDUFA12, NDUFAF6, NDUFS3
21visual epilepsy9.6MT-ND4, MT-ND5, MT-ND6
22thoracic outlet syndrome9.6MT-ND5, MT-TK, MT-TL1
23ledderhose disease9.4MT-ND1, MT-ND3, MT-ND4, MT-ND6
24lipid-rich carcinoma9.3MT-ND1, MT-ND4, MT-ND5, MT-ND6
25eczematous dermatitis of eyelid9.3MT-ND1, MT-ND4, MT-ND5, MT-ND6
26gemistocytic astrocytoma9.1COX15, MT-ATP6, MT-ND3, MT-ND5, MT-ND6, SURF1
27cheek mucosa cancer9.1MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-ND6
28progressive myoclonus epilepsy9.0MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
29olfactory nerve neoplasm8.8MT-ATP6, MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
30alcoholic cardiomyopathy8.8MT-ATP6, MT-ND5, MT-ND6, MT-TL1, MT-TW
31mitochondrial complex i deficiency8.1FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5
32thymus basaloid carcinoma7.8FOXRED1, MT-ATP6, MT-CO3, MT-ND1, MT-ND2, MT-ND3
33plexopathy7.8MT-ATP6, MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
34mitochondrial membrane protein-associated neurodegeneration6.1BCS1L, MT-ATP6, MT-CO3, MT-ND1, MT-ND3, MT-ND4
35mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes5.3BCS1L, COX15, FOXRED1, MT-ATP6, MT-ND1, MT-ND2
36mitochondrial disorders4.7BCS1L, COX15, FOXRED1, MT-ATP6, MT-CO3, MT-ND1

Graphical network of the top 20 diseases related to Mitochondrial Dna-Associated Leigh Syndrome and Narp:



Diseases related to mitochondrial dna-associated leigh syndrome and narp

Symptoms for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Drugs & Therapeutics for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Genetic Tests for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Genetic tests related to Mitochondrial Dna-Associated Leigh Syndrome and Narp:

id Genetic test Affiliating Genes
1 Mitochondrial Dna-Associated Leigh Syndrome and Narp22 MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-ATP6, MT-TK, MT-TL1 (show all 12)

MT-TV, MT-TW

Anatomical Context for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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MalaCards organs/tissues related to Mitochondrial Dna-Associated Leigh Syndrome and Narp:

33
Thymus

Animal Models for Mitochondrial Dna-Associated Leigh Syndrome and Narp or affiliated genes

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Publications for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Articles related to Mitochondrial Dna-Associated Leigh Syndrome and Narp:

idTitleAuthorsYear
1
Mitochondrial DNA-Associated Leigh Syndrome and NARP (20301352)
1993

Variations for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Expression for genes affiliated with Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Search GEO for disease gene expression data for Mitochondrial Dna-Associated Leigh Syndrome and Narp.

Pathways for genes affiliated with Mitochondrial Dna-Associated Leigh Syndrome and Narp

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GO Terms for genes affiliated with Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Biological processes related to Mitochondrial Dna-Associated Leigh Syndrome and Narp according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATP synthesis coupled electron transportGO:004277310.4MT-ND4, MT-ND5
2hydrogen ion transmembrane transportGO:190260010.0COX15, MT-CO3
3respiratory electron transport chainGO:00229049.7MT-ND2, MT-ND3, NDUFA12
4respiratory chain complex IV assemblyGO:00085359.7COX15, SURF1
5mitochondrial electron transport, NADH to ubiquinoneGO:00061209.0MT-ND2, MT-ND3, MT-ND4, MT-ND5, NDUFA12, NDUFS3
6oxidation-reduction processGO:00551147.4MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6

Molecular functions related to Mitochondrial Dna-Associated Leigh Syndrome and Narp according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1NADH dehydrogenase (ubiquinone) activityGO:00081379.5NDUFA12, NDUFS3

Sources for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet