MCID: MTC015
MIFTS: 25

Mitochondrial Dna-Associated Leigh Syndrome and Narp malady

Categories: Genetic diseases

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

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

Name: Mitochondrial Dna-Associated Leigh Syndrome and Narp 23 24 29
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

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/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..

GeneReviews: NBK1173

Related Diseases for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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

(show all 37)
id Related Disease Score Top Affiliating Genes
1 cylindrical spirals myopathy 10.3 MT-ATP6 MT-TK
2 polyhydramnios, megalencephaly, and symptomatic epilepsy 10.3 COX15 SURF1
3 polr3-related leukodystrophy 10.3 NDUFA12 NDUFAF6
4 cardiomyopathy, fatal fetal, due to myocardial calcification 10.2 COX15 SURF1
5 dsg2-related dilated cardiomyopathy 10.2 MT-TK MT-TL1
6 mental retardation, obesity, mandibular prognathism, and eye and skin anomalies 10.2 MT-TK MT-TL1
7 microlissencephaly iii 10.2 MT-TK MT-TL1
8 lrp5-related familial exudative vitreoretinopathy, autosomal dominant 10.1 MT-CO3 SURF1
9 leigh syndrome 10.1
10 mitochondrial dna-associated leigh syndrome 10.1
11 growth hormone deficiency, isolated partial 10.0 MT-ND4 MT-TK
12 penis sarcoma 10.0 MT-CO3 MT-ND1
13 histoplasmosis retinitis 10.0 MT-ND4 MT-TV MT-TW
14 mitochondrial dna depletion syndrome 14, cardioencephalomyopathic type 10.0 MT-ND1 MT-ND2
15 familial cold-induced inflammatory syndrome 1 10.0 COX15 MT-CO3 MT-TL1 SURF1
16 moloney syndrome 10.0 COX15 FOXRED1 MT-ATP6 NDUFA12 NDUFAF6 NDUFS3
17 reproductive system disease 10.0 MT-ATP6 MT-ND1
18 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome 10.0 COX15 FOXRED1 NDUFA12 NDUFAF6 NDUFS3 SURF1
19 myopathy with deficiency of iscu 9.9 BCS1L COX15 FOXRED1 NDUFA12 NDUFAF6 NDUFS3
20 parkinson disease 6, early onset 9.9 MT-ND5 MT-ND6
21 syphilitic encephalitis 9.9 MT-ND3 MT-ND5 MT-TL1
22 lentigo maligna melanoma 9.7 MT-ND1 MT-ND3 MT-ND4 MT-ND6
23 multiple epiphyseal dysplasia with robin phenotype 9.7 MT-ND4 MT-ND5 MT-TK MT-TL1
24 allergic contact dermatitis of eyelid 9.5 MT-ND1 MT-ND4 MT-ND5 MT-ND6
25 carotid body cancer 9.4 MT-ATP6 MT-ND1 MT-ND4 MT-ND5 MT-ND6
26 nerve fibre bundle defect 9.4 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TK
27 enteropathica 9.4 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
28 mental retardation with spastic paraplegia 9.4 MT-ATP6 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1
29 mucinous intrahepatic cholangiocarcinoma 9.2 COX15 MT-ATP6 MT-ND3 MT-ND4 MT-ND5 MT-ND6
30 retromolar area cancer 9.1 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TK
31 mast cell neoplasm 9.0 MT-ATP6 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
32 autoimmune interstitial lung, joint, and kidney disease 9.0 FOXRED1 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5
33 alopecia, androgenetic, 2 9.0 MT-ATP6 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4
34 myoclonic epilepsy associated with ragged-red fibers 8.9 MT-ATP6 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
35 nkx2-1-related disorders 8.5 BCS1L MT-ATP6 MT-CO3 MT-ND1 MT-ND3 MT-ND4
36 bjornstad syndrome 7.9 BCS1L COX15 FOXRED1 MT-ATP6 MT-CO3 MT-ND1
37 ndp-related retinopathies 7.9 BCS1L 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

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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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

Genetic Tests for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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

id Genetic test Affiliating Genes
1 Mitochondrial Dna-Associated Leigh Syndrome and Narp 29 24 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-ATP6 MT-TK MT-TL1 MT-TV MT-TW

Anatomical Context for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Publications for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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

id Title Authors Year
1
Mitochondrial DNA-Associated Leigh Syndrome and NARP ( 20301352 )
1993

Variations for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Expression for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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

Pathways for Mitochondrial Dna-Associated Leigh Syndrome and Narp

GO Terms for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial membrane GO:0031966 9.8 COX15 MT-ND1 MT-ND3 MT-ND4 MT-ND6 NDUFS3
2 respiratory chain GO:0070469 9.61 FOXRED1 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5
3 mitochondrial respiratory chain GO:0005746 9.4 COX15 SURF1
4 mitochondrial respiratory chain complex I GO:0005747 9.23 FOXRED1 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5
5 membrane GO:0016020 10.24 BCS1L COX15 FOXRED1 MT-ATP6 MT-CO3 MT-ND1
6 integral component of membrane GO:0016021 10.21 BCS1L COX15 FOXRED1 MT-ATP6 MT-CO3 MT-ND1
7 mitochondrion GO:0005739 10.03 BCS1L COX15 FOXRED1 MT-CO3 MT-ND1 MT-ND3
8 mitochondrial inner membrane GO:0005743 10.03 BCS1L 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)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.9 COX15 FOXRED1 MT-ND1 MT-ND2 MT-ND3 MT-ND4
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.7 BCS1L FOXRED1 MT-ND1 MT-ND2 MT-ND3 MT-ND4
3 hydrogen ion transmembrane transport GO:1902600 9.58 COX15 MT-CO3 SURF1
4 response to nicotine GO:0035094 9.52 MT-ND4 MT-ND6
5 reactive oxygen species metabolic process GO:0072593 9.51 MT-ND2 NDUFS3
6 cellular respiration GO:0045333 9.5 COX15 MT-ND1 NDUFS3
7 respiratory gaseous exchange GO:0007585 9.49 COX15 NDUFA12
8 ATP biosynthetic process GO:0006754 9.48 MT-ATP6 SURF1
9 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.46 COX15 MT-CO3
10 mitochondrial respiratory chain complex IV assembly GO:0033617 9.43 BCS1L SURF1
11 respiratory chain complex IV assembly GO:0008535 9.43 COX15 MT-CO3 SURF1
12 ATP synthesis coupled electron transport GO:0042773 9.37 MT-ND4 MT-ND5
13 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.23 MT-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:

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.56 FOXRED1 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.23 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
3 cytochrome-c oxidase activity GO:0004129 9.16 COX15 SURF1

Sources for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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