MCID: MTC015
MIFTS: 26

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 neurosarcoidosis 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.

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
1neurosarcoidosis10.5
2hypokalemic periodic paralysis, type 210.4COX15, SURF1
3otof-related deafness10.4NDUFA12, NDUFAF6
4cardiofacial syndrome short limbs10.3COX15, SURF1
5leptin deficiency10.3MT-CO3, SURF1
6porokeratosis 7, multiple types10.2MT-ND1, MT-ND2
7deafness-encephaloneuropathy-obesity-valvulopathy syndrome10.2COX15, MT-CO3, SURF1
8echinococcosis10.2MT-ATP6, MT-ND1
9cholera10.2MT-ATP6, MT-ND1
10cysticercosis10.0MT-ND3, MT-ND5
11encephalopathy10.0MT-ND3, SURF1
12digeorge syndrome 210.0MT-TK, MT-TL1
13mertk-related retinitis pigmentosa10.0MT-TK, MT-TL1
14leigh syndrome with nephrotic syndrome9.9COX15, FOXRED1, NDUFA12, NDUFAF6, NDUFS3, SURF1
15parkinson disease 6, early onset9.9MT-ND5, MT-ND6
16mitochondrial complex iv deficiency9.9COX15, MT-CO3, MT-TL1, SURF1
17encephalopathy due to prosaposin deficiency9.8MT-CO3, MT-ND1, MT-ND4, MT-ND5
18matsoukas liarikos giannika syndrome9.8MT-CO3, MT-TK, MT-TL1
19mitochondrial dna-associated leigh syndrome and narp9.8BCS1L, COX15, FOXRED1, NDUFA12, NDUFAF6, NDUFS3
20visual epilepsy9.7MT-ND4, MT-ND5, MT-ND6
21thoracic outlet syndrome9.7MT-ND5, MT-TK, MT-TL1
22ledderhose disease9.6MT-ND1, MT-ND3, MT-ND4, MT-ND6
23lipid-rich carcinoma9.5MT-ND1, MT-ND4, MT-ND5, MT-ND6
24eczematous dermatitis of eyelid9.5MT-ND1, MT-ND4, MT-ND5, MT-ND6
25gemistocytic astrocytoma9.4COX15, MT-ATP6, MT-ND3, MT-ND5, MT-ND6, SURF1
26cheek mucosa cancer9.4MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-ND6
27progressive myoclonus epilepsy9.3MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
28olfactory nerve neoplasm9.2MT-ATP6, MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
29alcoholic cardiomyopathy9.2MT-ATP6, MT-ND5, MT-ND6, MT-TL1, MT-TW
30mitochondrial complex i deficiency8.8FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5
31thymus basaloid carcinoma8.6FOXRED1, MT-ATP6, MT-CO3, MT-ND1, MT-ND2, MT-ND3
32plexopathy8.6MT-ATP6, MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
33mitochondrial membrane protein-associated neurodegeneration7.4BCS1L, MT-ATP6, MT-CO3, MT-ND1, MT-ND3, MT-ND4
34mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes6.9BCS1L, COX15, FOXRED1, MT-ATP6, MT-ND1, MT-ND2
35leigh syndrome6.5BCS1L, COX15, FOXRED1, MT-ATP6, MT-CO3, MT-ND1
36mitochondrial disorders6.5BCS1L, 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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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
MR imaging of shaken baby syndrome manifested as chronic subdural hematoma. (11752989)
2001

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