MCID: MTC112
MIFTS: 23

Mitochondrial Dna-Associated Leigh Syndrome malady

Category: Rare diseases

Aliases & Classifications for Mitochondrial Dna-Associated Leigh Syndrome

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Aliases & Descriptions for Mitochondrial Dna-Associated Leigh Syndrome:

Name: Mitochondrial Dna-Associated Leigh Syndrome 48
Maternally Inherited Leigh Syndrome 48 68
Subacute Necrotizing Encephalomyelopathy Maternally Inherited 48
 
Leigh Disease, Maternally Inherited 48
Mils 48

Classifications:



Summaries for Mitochondrial Dna-Associated Leigh Syndrome

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NIH Rare Diseases:48 Mitochondrial DNA-associated Leigh syndrome is a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement. Heart disease, kidney problems, and difficulty breathing can also occur in people with this disorder. Mitochondrial DNA-associated Leigh syndrome is a subtype of Leigh syndrome and is caused by changes in mitochondrial DNA. Mutations in at least 11 mitochondrial genes have been found to cause mtDNA-associated Leigh syndrome. This condition has an inheritance pattern known as maternal or mitochondrial inheritance. Because mitochondria can be passed from one generation to the next only through egg cells (not through sperm cells), only females pass mitochondrial DNA-associated Leigh syndrome to their children. Last updated: 1/27/2016

MalaCards based summary: Mitochondrial Dna-Associated Leigh Syndrome, also known as maternally inherited leigh syndrome, is related to leigh syndrome and mitochondrial dna-associated leigh syndrome and narp. An important gene associated with Mitochondrial Dna-Associated Leigh Syndrome is NDUFS4 (NADH:Ubiquinone Oxidoreductase Subunit S4), and among its related pathways are Doxorubicin Pathway, Pharmacokinetics and Metformin Pathway, Pharmacodynamics. Related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and Decreased shRNA abundance.

Related Diseases for Mitochondrial Dna-Associated Leigh Syndrome

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

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1leigh syndrome25.4BCS1L, COX10, COX15, FOXRED1, MT-ATP6, NDUFA10
2mitochondrial dna-associated leigh syndrome and narp12.5
3extragonadal nonseminomatous germ cell tumor10.4NDUFS3, NDUFS4
4lfng-related spondylocostal dysostosis, autosomal recessive10.1NDUFS4, SURF1
5gastrointestinal neuroendocrine benign tumor9.8NDUFA12, NDUFA2
6cardiomelic syndrome stratton koehler type9.6COX15, SURF1
7ocular albinism, x-linked9.5NDUFA12, NDUFA2, NDUFAF6, NDUFS7
8mitochondrial neurogastrointestinal encephalopathy disease9.5BCS1L, MT-ATP6, NDUFS4, SURF1
9polyhydramnios, megalencephaly, and symptomatic epilepsy9.3COX10, COX15, SURF1
10erb's palsy9.3COX10, NDUFS7, NDUFS8, SURF1
11esophageal basaloid squamous cell carcinoma9.2FOXRED1, MT-ATP6, NDUFAF2, NDUFAF6, NDUFS4, NDUFS7
12mitochondrial complex iv deficiency9.2COX10, COX15, SURF1
13mitochondrial complex i deficiency8.9FOXRED1, NDUFA10, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4
14childhood cerebral astrocytoma8.5COX10, COX15, MT-ATP6, NDUFS4, NDUFS8, SURF1
15mitochondrial membrane protein-associated neurodegeneration8.3BCS1L, COX15, FOXRED1, MT-ATP6, NDUFA12, NDUFAF6
16malignant perineurioma6.8COX15, FOXRED1, NDUFA10, NDUFA12, NDUFA2, NDUFA9
17mitochondrial disorders5.9BCS1L, COX10, COX15, FOXRED1, NDUFA10, NDUFA12
18lumbar malsegmentation short stature5.4BCS1L, COX10, COX15, FOXRED1, MT-ATP6, NDUFA10

Graphical network of diseases related to Mitochondrial Dna-Associated Leigh Syndrome:



Diseases related to mitochondrial dna-associated leigh syndrome

Symptoms & Phenotypes for Mitochondrial Dna-Associated Leigh Syndrome

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GenomeRNAi Phenotypes related to Mitochondrial Dna-Associated Leigh Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-358.8NDUFA10, NDUFA2, NDUFA9, NDUFS7
2GR00251-A-18.7COX10, NDUFA10, NDUFS3, NDUFS7, NDUFS8, SDHA
3GR00366-A-586.3BCS1L, COX10, NDUFA10, NDUFA9, NDUFS7, BCS1L

Drugs & Therapeutics for Mitochondrial Dna-Associated Leigh Syndrome

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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

Genetic Tests for Mitochondrial Dna-Associated Leigh Syndrome

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Anatomical Context for Mitochondrial Dna-Associated Leigh Syndrome

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Publications for Mitochondrial Dna-Associated Leigh Syndrome

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Articles related to Mitochondrial Dna-Associated Leigh Syndrome:

idTitleAuthorsYear
1
Mitochondrial DNA-Associated Leigh Syndrome and NARP (20301352)
1993

Variations for Mitochondrial Dna-Associated Leigh Syndrome

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Expression for genes affiliated with Mitochondrial Dna-Associated Leigh Syndrome

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

Pathways for genes affiliated with Mitochondrial Dna-Associated Leigh Syndrome

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GO Terms for genes affiliated with Mitochondrial Dna-Associated Leigh Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chainGO:000574610.2COX15, SURF1
2mitochondrial membraneGO:003196610.0NDUFA2, NDUFA9, NDUFS3
3cytochrome complexGO:007006910.0COX10, COX15
4mitochondrial matrixGO:00057599.7NDUFA10, NDUFA9, NDUFS3, NDUFS7, NDUFS8
5myelin sheathGO:00432099.6NDUFA10, NDUFS3, SDHA
6mitochondrial respiratory chain complex IGO:00057478.2FOXRED1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFS3
7mitochondrionGO:00057396.6BCS1L, COX10, COX15, FOXRED1, NDUFA9, NDUFAF2
8mitochondrial inner membraneGO:00057436.2COX10, COX15, FOXRED1, MT-ATP6, NDUFA10, NDUFA12

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1respiratory electron transport chainGO:002290410.4NDUFAF2, SDHA
2reactive oxygen species metabolic processGO:007259310.3NDUFAF2, NDUFS3, NDUFS4
3mitochondrial respiratory chain complex IV assemblyGO:003361710.2BCS1L, SURF1
4ATP biosynthetic processGO:000675410.1MT-ATP6, SURF1
5heme a biosynthetic processGO:00067849.8COX10, COX15
6heme biosynthetic processGO:00067839.8COX10, COX15
7mitochondrial electron transport, cytochrome c to oxygenGO:00061239.8COX10, COX15
8aerobic respirationGO:00090609.8COX10, SURF1
9respiratory gaseous exchangeGO:00075859.6COX15, NDUFA12
10cellular respirationGO:00453339.4COX10, COX15, NDUFAF2, NDUFS4
11hydrogen ion transmembrane transportGO:19026009.3COX10, COX15, SURF1
12respiratory chain complex IV assemblyGO:00085359.1COX10, COX15, SURF1
13mitochondrial electron transport, NADH to ubiquinoneGO:00061208.3NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFS3, NDUFS4
14mitochondrial respiratory chain complex I assemblyGO:00329817.2BCS1L, FOXRED1, NDUFA10, NDUFA12, NDUFA2, NDUFA9

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

idNameGO IDScoreTop Affiliating Genes
14 iron, 4 sulfur cluster bindingGO:005153910.5NDUFS7, NDUFS8
2electron carrier activityGO:000905510.1NDUFA12, NDUFAF2, NDUFS3
3NADH dehydrogenase activityGO:00039549.9NDUFA9, NDUFS3, NDUFS7, NDUFS8
4transmembrane transporter activityGO:00228579.7MT-ATP6, NDUFAF6
5cytochrome-c oxidase activityGO:00041299.3COX10, COX15, SURF1
6NADH dehydrogenase (ubiquinone) activityGO:00081378.0NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFS3

Sources for Mitochondrial Dna-Associated Leigh Syndrome

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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