MCID: MTC015
MIFTS: 18

Mitochondrial Dna-Associated Leigh Syndrome and Narp

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

MalaCards integrated aliases for Mitochondrial Dna-Associated Leigh Syndrome and Narp:

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

Characteristics:

GeneReviews:

24
Penetrance See genotype-phenotype correlations...

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 syndromenarp, is related to leigh syndrome and diabetes and deafness, maternally inherited. An important gene associated with Mitochondrial Dna-Associated Leigh Syndrome and Narp is MT-TK (Mitochondrially Encoded TRNA Lysine), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse.

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 46)
# Related Disease Score Top Affiliating Genes
1 leigh syndrome 22.7 MT-ATP6 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4
2 diabetes and deafness, maternally inherited 10.7 MT-TK MT-TL1
3 maternally-inherited progressive external ophthalmoplegia 10.6 MT-TL1 MT-TL2
4 chronic progressive external ophthalmoplegia 10.4 MT-TI MT-TK MT-TL2
5 parkinson disease 6, autosomal recessive early-onset 10.3 MT-ND5 MT-ND6
6 mitochondrial dna-associated leigh syndrome 10.2
7 alzheimer disease mitochondrial 10.1 MT-ND1 MT-ND2
8 early myoclonic encephalopathy 10.1 MT-ND5 MT-TK
9 cystic echinococcosis 10.0 MT-ATP6 MT-ND1
10 echinococcosis 9.9 MT-ATP6 MT-ND1
11 3-methylglutaconic aciduria 9.9 MT-ND1 MT-ND2 MT-TL1
12 diphyllobothriasis 9.8 MT-ND3 MT-ND5 MT-TL1
13 3-methylglutaconic aciduria, type v 9.8 MT-ND4 MT-TK
14 cortical blindness 9.8 MT-ND4 MT-ND6
15 mitochondrial complex iv deficiency 9.6 MT-CO3 MT-ND3 MT-TL1
16 cercarial dermatitis 9.6 MT-ND4 MT-TV MT-TW
17 sparganosis 9.5 MT-ND3 MT-ND4
18 cardiomyopathy, infantile hypertrophic 9.4 MT-ATP6 MT-CO3 MT-ND3
19 mitochondrial dna depletion syndrome 1 9.2 MT-ATP6 MT-CO3 MT-ND3 MT-TK
20 peripheral nervous system disease 9.2 MT-ND4 MT-ND6
21 myoclonic epilepsy associated with ragged-red fibers 9.1 MT-ND4 MT-ND5 MT-TI MT-TK MT-TL1
22 encephalomyopathy 9.1 MT-ND1 MT-ND4 MT-ND5 MT-ND6
23 cranial nerve disease 9.1 MT-ND1 MT-ND4 MT-ND5 MT-ND6
24 optic nerve disease 9.0 MT-ND1 MT-ND4 MT-ND5 MT-ND6
25 mitochondrial metabolism disease 8.9 MT-ATP6 MT-ND3 MT-ND5 MT-ND6 MT-TK
26 dystonia 8.8 MT-ND3 MT-ND4 MT-ND6
27 leber optic atrophy and dystonia 8.8 MT-ND1 MT-ND3 MT-ND4 MT-ND6
28 neuropathy 8.8 MT-ATP6 MT-ND1 MT-ND4 MT-ND6
29 striatonigral degeneration, infantile, mitochondrial 8.5 MT-ATP6 MT-CO3 MT-ND3 MT-ND4
30 myopathy, lactic acidosis, and sideroblastic anemia 3 8.5 MT-ATP6 MT-CO3 MT-ND3 MT-ND4
31 striatonigral degeneration, infantile 8.5 MT-ATP6 MT-CO3 MT-ND3 MT-ND4
32 ataxia and polyneuropathy, adult-onset 8.5 MT-ATP6 MT-CO3 MT-ND3 MT-ND4
33 myopathy, lactic acidosis, and sideroblastic anemia 8.3 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-TK
34 lactic acidosis 7.9 MT-ATP6 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
35 kearns-sayre syndrome 7.9 MT-ATP6 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TK
36 retinitis pigmentosa 7.8 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND5
37 deafness, nonsyndromic sensorineural, mitochondrial 7.8 MT-ATP6 MT-CO3 MT-ND1 MT-ND2 MT-ND4 MT-ND5
38 familial colorectal cancer 7.7 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND5 MT-ND6
39 mitochondrial complex i deficiency 7.7 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
40 myopathy 7.1 MT-ATP6 MT-CO3 MT-ND1 MT-ND3 MT-ND4 MT-ND5
41 leber optic atrophy 6.6 MT-ATP6 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4
42 leber hereditary optic neuropathy 6.6 MT-ATP6 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4
43 mitochondrial myopathy 6.3 MT-ATP6 MT-CO3 MT-ND1 MT-ND2 MT-ND4 MT-ND5
44 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 6.3 MT-ATP6 MT-CO3 MT-ND1 MT-ND3 MT-ND4 MT-ND5
45 mitochondrial disorders 6.1 MT-ATP6 MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6
46 mitochondrial encephalomyopathy 5.9 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5

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

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Mitochondrial Dna-Associated Leigh Syndrome and Narp 29 MT-ATP6 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TI MT-TK MT-TL1 MT-TL2 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.8 MT-CO3 MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6
2 mitochondrial membrane GO:0031966 9.56 MT-ND1 MT-ND3 MT-ND4 MT-ND6
3 mitochondrial inner membrane GO:0005743 9.56 MT-ATP6 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4
4 mitochondrial respiratory chain complex I GO:0005747 9.55 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5
5 respiratory chain GO:0070469 9.1 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.63 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.43 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
3 response to hydrogen peroxide GO:0042542 9.4 MT-ND5 MT-ND6
4 response to nicotine GO:0035094 9.37 MT-ND4 MT-ND6
5 aerobic respiration GO:0009060 9.32 MT-CO3 MT-ND4
6 ATP synthesis coupled electron transport GO:0042773 9.26 MT-ND4 MT-ND5
7 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.1 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:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.63 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
2 NADH dehydrogenase activity GO:0003954 9.13 MT-ND1 MT-ND4 MT-ND5
3 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.1 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6

Sources for Mitochondrial Dna-Associated Leigh Syndrome and Narp

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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