Mitochondrial Dna-Associated Leigh Syndrome and Narp disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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...

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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

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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:

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Symptoms & Phenotypes for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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

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

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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

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Anatomical Context for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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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 )	Pagon R.A....Stephens K.	1993

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Genes for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Genes related to Mitochondrial Dna-Associated Leigh Syndrome and Narp (14 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MT-TK	Mitochondrially Encoded TRNA Lysine	RNA Gene	100	Genetic Tests ²⁹
2	MT-TI	Mitochondrially Encoded TRNA Isoleucine	RNA Gene	100	Genetic Tests ²⁹
3	MT-TL1	Mitochondrially Encoded TRNA Leucine 1 (UUA/G)	RNA Gene	100	Genetic Tests ²⁹
4	MT-TL2	Mitochondrially Encoded TRNA Leucine 2 (CUN)	RNA Gene	100	Genetic Tests ²⁹
5	MT-TW	Mitochondrially Encoded TRNA Tryptophan	RNA Gene	100	Genetic Tests ²⁹
6	MT-TV	Mitochondrially Encoded TRNA Valine	RNA Gene	100	Genetic Tests ²⁹
7	MT-ND6	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6	Protein Coding	100	Genetic Tests ²⁹
8	MT-ND5	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 5	Protein Coding	100	Genetic Tests ²⁹
9	MT-ND1	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1	Protein Coding	100	Genetic Tests ²⁹
10	MT-CO3	Mitochondrially Encoded Cytochrome C Oxidase III	Protein Coding	100	Genetic Tests ²⁹
11	MT-ND2	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 2	Protein Coding	100	Genetic Tests ²⁹
12	MT-ND3	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 3	Protein Coding	100	Genetic Tests ²⁹
13	MT-ND4	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4	Protein Coding	100	Genetic Tests ²⁹
14	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	100	Genetic Tests ²⁹

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Variations for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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Expression for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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

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Pathways for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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

#	Super pathways	Score	Top Affiliating Genes
1	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁶ Show member pathways Alzheimer's disease ³⁷ Alzheimers Disease ¹ Complex I biogenesis ⁶⁶ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁶ Huntington's disease ³⁷ Non-alcoholic fatty liver disease (NAFLD) ³⁷ Oxidative phosphorylation ³⁷ Oxidative phosphorylation ¹ Parkinson's disease ³⁷ Respiratory electron transport ⁶⁶ The citric acid (TCA) cycle and respiratory electron transport ⁶⁶ Thermogenesis ³⁷	13.01	MT-ATP6 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4
2	GABAergic synapse ³⁷ Show member pathways Morphine addiction ³⁷ Retrograde endocannabinoid signaling ³⁷	11.95	MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
3	tRNA Aminoacylation ⁶⁶ Show member pathways Aminoacyl-tRNA biosynthesis ³⁷ Cytosolic tRNA aminoacylation ⁶⁶ Mitochondrial tRNA aminoacylation ⁶⁶ Pyrophosphate hydrolysis ⁶⁶ SeMet incorporation into proteins ⁶⁶	11.34	MT-TI MT-TK MT-TL1 MT-TL2 MT-TV MT-TW

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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

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