MCID: MTC015
MIFTS: 24

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 25 29 6
Mtdna-Associated Leigh Syndrome Narp 25

Characteristics:

GeneReviews:

25
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 syndrome narp, is related to dystonia and peripheral nervous system disease. An important gene associated with Mitochondrial Dna-Associated Leigh Syndrome and Narp is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6), and among its related pathways/superpathways are Metabolism and Pathways of neurodegeneration - multiple diseases.

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 top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 dystonia 30.2 MT-ND6 MT-ND4 MT-ND3 MT-ND1
2 peripheral nervous system disease 30.2 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
3 hypertrophic cardiomyopathy 29.7 MT-TL1 MT-ND5 MT-ND1 MT-ATP6
4 neuropathy 29.5 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
5 retinitis pigmentosa 29.2 MT-TW MT-TL1 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
6 mitochondrial dna-associated leigh syndrome 27.1 PDSS2 MT-TW MT-TV MT-TL1 MT-TK MT-ND6
7 leigh syndrome 27.1 PDSS2 MT-TW MT-TV MT-TL1 MT-TK MT-ND6
8 ataxia and polyneuropathy, adult-onset 10.3
9 chorea, childhood-onset, with psychomotor retardation 10.3
10 neuroretinitis 10.3
11 choreatic disease 10.3
12 sensory peripheral neuropathy 10.3
13 retinitis 10.3
14 movement disease 10.3
15 basal ganglia disease 10.3
16 hypotonia 10.3
17 spasticity 10.3
18 alzheimer disease mitochondrial 10.3 MT-ND2 MT-ND1
19 coenurosis 10.2 MT-ND4 MT-ND1
20 intracranial vasospasm 10.2 MT-ND5 MT-ATP6
21 progressive myoclonus epilepsy 8 10.2 MT-ND5 MT-ND2
22 deafness, nonsyndromic sensorineural, mitochondrial 10.2 MT-ND4 MT-ND1
23 toxic optic neuropathy 10.2 MT-ND6 MT-ND4
24 cystic echinococcosis 10.2 MT-ND1 MT-ATP6
25 optic atrophy 4 10.2 MT-ND6 MT-ND4
26 echinococcosis 10.1 MT-ND1 MT-ATP6
27 drug-induced hearing loss 10.1 MT-ND6 MT-ND4
28 optic atrophy 7 with or without auditory neuropathy 10.1 MT-ND6 MT-ND4
29 progressive myoclonus epilepsy 9 10.1 MT-TK MT-ND5
30 parkinson disease 6, autosomal recessive early-onset 10.1 MT-ND6 MT-ND5
31 optic atrophy 5 10.1 MT-ND6 MT-ND4
32 mitochondrial dna depletion syndrome 4a 10.1 MT-ND5 MT-ND1 MT-ATP6
33 sparganosis 10.1 MT-ND4 MT-ND3 MT-ND1
34 severe congenital neutropenia 1 10.1 MT-ND5 MT-ND2 MT-ND1
35 scotoma 10.1 MT-ND6 MT-ND4
36 myasthenic syndrome, congenital, 10 10.1 MT-TK MT-ND2
37 cardiomyopathy, infantile hypertrophic 10.1 MT-ND6 MT-ATP6
38 diabetes and deafness, maternally inherited 10.1 MT-TL1 MT-TK
39 neuropathy, ataxia, and retinitis pigmentosa 10.0 MT-ND6 MT-ND4 MT-ATP6
40 mitochondrial complex iv deficiency, nuclear type 5 10.0 MT-ND6 MT-ATP6
41 deafness, aminoglycoside-induced 10.0 MT-ND6 MT-ND4 MT-ND1
42 retinitis pigmentosa 36 10.0 MT-TV MT-TK
43 retinitis pigmentosa 32 10.0 MT-TV MT-TK
44 retinitis pigmentosa 22 10.0 MT-TV MT-TK
45 retinitis pigmentosa 14 9.9 MT-TV MT-TK
46 retinitis pigmentosa 20 9.9 MT-TV MT-TK
47 mitochondrial myopathy, infantile, transient 9.9 MT-ND5 MT-ND2 MT-ND1 MT-ATP6
48 cercarial dermatitis 9.9 MT-TW MT-ND4
49 retinitis pigmentosa 12 9.9 MT-TV MT-TK
50 mental retardation, autosomal dominant 30 9.9 MT-TV MT-TK

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

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:

(show top 50) (show all 247)
# Title Authors PMID Year
1
NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect. 25
28853723 2017
2
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients. 25
28429146 2017
3
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. 25
28777931 2017
4
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1. 25
28442211 2017
5
Live birth derived from oocyte spindle transfer to prevent mitochondrial disease. 25
28385334 2017
6
Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation. 25
28424480 2017
7
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome. 25
27986404 2017
8
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. 25
27995398 2017
9
Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome. 25
27761019 2017
10
De novo mtDNA point mutations are common and have a low recurrence risk. 25
27450679 2017
11
Leigh map: A novel computational diagnostic resource for mitochondrial disease. 25
27977873 2017
12
Mitochondrial Donation - Clearing the Final Regulatory Hurdle in the United Kingdom. 25
28030773 2017
13
Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations. 25
27919073 2016
14
Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patients. 25
27647878 2016
15
DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst. 25
27301544 2016
16
Novel mutation in mitochondrial DNA in 2 siblings with Leigh syndrome. 25
27574709 2016
17
Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs. 25
27466392 2016
18
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome. 25
27390132 2016
19
Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. 25
27499296 2016
20
Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP). 25
27015314 2016
21
Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease. 25
27281217 2016
22
The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome. 25
27080638 2016
23
3697G>A in MT-ND1 is a causative mutation in mitochondrial disease. 25
27017994 2016
24
The neuroimaging of Leigh syndrome: case series and review of the literature. 25
26739140 2016
25
Hypoxia as a therapy for mitochondrial disease. 25
26917594 2016
26
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. 25
26783368 2016
27
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9. 25
26081641 2016
28
Leigh syndrome: One disorder, more than 75 monogenic causes. 25
26506407 2016
29
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. 25
26685157 2016
30
A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome. 25
26524491 2015
31
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. 25
25503498 2015
32
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita. 25
26016410 2015
33
Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. 25
26008862 2015
34
Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis. 25
26312584 2015
35
Pharmacological NAD-Boosting Strategies Improve Mitochondrial Homeostasis in Human Complex I-Mutant Fibroblasts. 25
25788480 2015
36
Ophthalmological manifestations in patients with Leigh syndrome. 25
25351680 2015
37
Selective elimination of mitochondrial mutations in the germline by genome editing. 25
25910206 2015
38
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. 25
25642805 2015
39
Mild clinical manifestation and unusual recovery upon coenzyme Q₁₀ treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A. 25
25384404 2015
40
Effect of nicotinamide mononucleotide on brain mitochondrial respiratory deficits in an Alzheimer's disease-relevant murine model. 25
25884176 2015
41
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. 25
25807530 2015
42
ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. 25
25393721 2015
43
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. 25
25597511 2015
44
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. 25
25434004 2014
45
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. 25
25125611 2014
46
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. 25
25130867 2014
47
A national perspective on prenatal testing for mitochondrial disease. 25
24642831 2014
48
Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature. 25
24284231 2014
49
Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy. 25
25037205 2014
50
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25
25058219 2014

Variations for Mitochondrial Dna-Associated Leigh Syndrome and Narp

ClinVar genetic disease variations for Mitochondrial Dna-Associated Leigh Syndrome and Narp:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-ATP6 NC_012920.1:m.8686T>C SNV not provided 585120 rs1569484231 GRCh37: MT:8686-8686
GRCh38: MT:8686-8686

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 PDSS2 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2
2
Show member pathways
13.05 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
3
Show member pathways
12.83 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
4
Show member pathways
11.95 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
5
Show member pathways
11.88 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
6
Show member pathways
11.8 MT-TW MT-TV MT-TL1 MT-TK

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 9.86 PDSS2 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2
2 mitochondrial inner membrane GO:0005743 9.7 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
3 mitochondrial membrane GO:0031966 9.62 MT-ND6 MT-ND4 MT-ND3 MT-ND1
4 mitochondrial respiratory chain complex I GO:0005747 9.35 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
5 respiratory chain GO:0070469 9.1 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1

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-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
2 response to hydrogen peroxide GO:0042542 9.46 MT-ND6 MT-ND5
3 cerebellum development GO:0021549 9.43 PDSS2 MT-ND4
4 mitochondrial respiratory chain complex I assembly GO:0032981 9.43 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
5 response to nicotine GO:0035094 9.4 MT-ND6 MT-ND4
6 aerobic respiration GO:0009060 9.37 MT-ND4 MT-ND1
7 ATP synthesis coupled electron transport GO:0042773 9.32 MT-ND5 MT-ND4
8 electron transport coupled proton transport GO:0015990 9.26 MT-ND5 MT-ND4
9 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.1 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1

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 NADH dehydrogenase activity GO:0003954 9.13 MT-ND5 MT-ND4 MT-ND1
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.1 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1

Sources for Mitochondrial Dna-Associated Leigh Syndrome and Narp

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....