MCID: MTC015
MIFTS: 25

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 23 24 27
Mtdna-Associated Leigh Syndrome and Narp 24
 
Mtdna-Associated Leigh Syndromenarp 23

Characteristics:

GeneReviews:

23
Penetrance: see genotype-phenotype correlations...


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 cylindrical spirals myopathy and polyhydramnios, megalencephaly, and symptomatic epilepsy. 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 GABAergic synapse.

GeneReviews 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 37)
idRelated DiseaseScoreTop Affiliating Genes
1cylindrical spirals myopathy10.3MT-ATP6, MT-TK
2polyhydramnios, megalencephaly, and symptomatic epilepsy10.3COX15, SURF1
3polr3-related leukodystrophy10.3NDUFA12, NDUFAF6
4cardiomyopathy, fatal fetal, due to myocardial calcification10.2COX15, SURF1
5dsg2-related dilated cardiomyopathy10.2MT-TK, MT-TL1
6mental retardation, obesity, mandibular prognathism, and eye and skin anomalies10.2MT-TK, MT-TL1
7microlissencephaly iii10.2MT-TK, MT-TL1
8lrp5-related familial exudative vitreoretinopathy, autosomal dominant10.1MT-CO3, SURF1
9leigh syndrome10.1
10mitochondrial dna-associated leigh syndrome10.1
11growth hormone deficiency, isolated partial10.0MT-ND4, MT-TK
12penis sarcoma10.0MT-CO3, MT-ND1
13histoplasmosis retinitis10.0MT-ND4, MT-TV, MT-TW
14mitochondrial dna depletion syndrome 14, cardioencephalomyopathic type10.0MT-ND1, MT-ND2
15familial cold-induced inflammatory syndrome 110.0COX15, MT-CO3, MT-TL1, SURF1
16moloney syndrome10.0COX15, FOXRED1, MT-ATP6, NDUFA12, NDUFAF6, NDUFS3
17reproductive system disease10.0MT-ATP6, MT-ND1
18osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome10.0COX15, FOXRED1, NDUFA12, NDUFAF6, NDUFS3, SURF1
19myopathy with deficiency of iscu9.9BCS1L, COX15, FOXRED1, NDUFA12, NDUFAF6, NDUFS3
20parkinson disease 6, early onset9.9MT-ND5, MT-ND6
21syphilitic encephalitis9.9MT-ND3, MT-ND5, MT-TL1
22lentigo maligna melanoma9.7MT-ND1, MT-ND3, MT-ND4, MT-ND6
23multiple epiphyseal dysplasia with robin phenotype9.7MT-ND4, MT-ND5, MT-TK, MT-TL1
24allergic contact dermatitis of eyelid9.5MT-ND1, MT-ND4, MT-ND5, MT-ND6
25carotid body cancer9.4MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-ND6
26nerve fibre bundle defect9.4MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TK
27enteropathica9.4MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
28mental retardation with spastic paraplegia9.4MT-ATP6, MT-ND4, MT-ND5, MT-ND6, MT-TK, MT-TL1
29mucinous intrahepatic cholangiocarcinoma9.2COX15, MT-ATP6, MT-ND3, MT-ND4, MT-ND5, MT-ND6
30retromolar area cancer9.1MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TK
31mast cell neoplasm9.0MT-ATP6, MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
32autoimmune interstitial lung, joint, and kidney disease9.0FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5
33alopecia, androgenetic, 29.0MT-ATP6, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4
34myoclonic epilepsy associated with ragged-red fibers8.9MT-ATP6, MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
35nkx2-1-related disorders8.5BCS1L, MT-ATP6, MT-CO3, MT-ND1, MT-ND3, MT-ND4
36bjornstad syndrome7.9BCS1L, COX15, FOXRED1, MT-ATP6, MT-CO3, MT-ND1
37ndp-related retinopathies7.9BCS1L, 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 & Phenotypes 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:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search 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 Narp27 24 MT-ATP6, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, 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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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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Cellular components related to Mitochondrial Dna-Associated Leigh Syndrome and Narp according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chainGO:000574610.0COX15, SURF1
2mitochondrial membraneGO:00319668.7COX15, MT-ND1, MT-ND3, MT-ND4, MT-ND6, NDUFS3
3mitochondrial respiratory chain complex IGO:00057478.5FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5
4respiratory chainGO:00704697.4FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5
5integral component of membraneGO:00160217.0BCS1L, COX15, FOXRED1, MT-ATP6, MT-CO3, MT-ND1
6mitochondrionGO:00057395.8BCS1L, COX15, FOXRED1, MT-CO3, MT-ND1, MT-ND3
7membraneGO:00160205.4BCS1L, COX15, FOXRED1, MT-ATP6, MT-CO3, MT-ND1
8mitochondrial inner membraneGO:00057435.4BCS1L, COX15, FOXRED1, MT-ATP6, MT-CO3, MT-ND1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1ATP biosynthetic processGO:000675410.6MT-ATP6, SURF1
2ATP synthesis coupled electron transportGO:004277310.5MT-ND4, MT-ND5
3reactive oxygen species metabolic processGO:007259310.2MT-ND2, NDUFS3
4mitochondrial respiratory chain complex IV assemblyGO:003361710.2BCS1L, SURF1
5mitochondrial electron transport, cytochrome c to oxygenGO:000612310.1COX15, MT-CO3
6response to nicotineGO:00350949.8MT-ND4, MT-ND6
7hydrogen ion transmembrane transportGO:19026009.7COX15, MT-CO3, SURF1
8respiratory gaseous exchangeGO:00075859.6COX15, NDUFA12
9cellular respirationGO:00453339.6COX15, MT-ND1, NDUFS3
10respiratory chain complex IV assemblyGO:00085359.5COX15, MT-CO3, SURF1
11mitochondrial electron transport, NADH to ubiquinoneGO:00061208.5MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6
12mitochondrial respiratory chain complex I assemblyGO:00329817.0BCS1L, FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4
13oxidation-reduction processGO:00551146.7COX15, FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4

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

idNameGO IDScoreTop Affiliating Genes
1cytochrome-c oxidase activityGO:00041299.9COX15, SURF1
2NADH dehydrogenase (ubiquinone) activityGO:00081378.5MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6
3oxidoreductase activityGO:00164917.9FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5

Sources for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet