MCID: MTC112
MIFTS: 27

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 46
Maternally Inherited Leigh Syndrome 46 66
Mils 46 66
 
Subacute Necrotizing Encephalomyelopathy Maternally Inherited 46
Leigh Disease, Maternally Inherited 46

Classifications:



Summaries for Mitochondrial Dna-Associated Leigh Syndrome

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NIH Rare Diseases:46 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. Affiliated tissues include kidney, heart and brain.

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 syndrome23.5BCS1L, COX10, COX15, FOXRED1, MT-ATP6, NDUFA10
2mitochondrial dna-associated leigh syndrome and narp12.6
3extragonadal nonseminomatous germ cell tumor10.5NDUFS3, 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 epilepsy9.2COX10, COX15, SURF1
10erb's palsy9.2COX10, NDUFS7, NDUFS8, SURF1
11esophageal basaloid squamous cell carcinoma9.1FOXRED1, MT-ATP6, NDUFAF2, NDUFAF6, NDUFS4, NDUFS7
12mitochondrial complex iv deficiency9.1COX10, COX15, SURF1
13mitochondrial complex i deficiency8.8FOXRED1, NDUFA10, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4
14childhood cerebral astrocytoma8.4COX10, COX15, MT-ATP6, NDUFS4, NDUFS8, SURF1
15mitochondrial membrane protein-associated neurodegeneration8.2BCS1L, COX15, FOXRED1, MT-ATP6, NDUFA12, NDUFAF6
16malignant perineurioma6.4COX15, FOXRED1, NDUFA10, NDUFA12, NDUFA2, NDUFA9
17mitochondrial disorders5.4BCS1L, COX10, COX15, FOXRED1, NDUFA10, NDUFA12
18lumbar malsegmentation short stature4.9BCS1L, 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 for Mitochondrial Dna-Associated Leigh Syndrome

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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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MalaCards organs/tissues related to Mitochondrial Dna-Associated Leigh Syndrome:

34
Kidney, Heart, Brain

Animal Models for Mitochondrial Dna-Associated Leigh Syndrome or affiliated genes

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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:000574610.1COX15, SURF1
2mitochondrial membraneGO:00319669.9NDUFA2, NDUFA9, NDUFS3
3cytochrome complexGO:00700699.8COX10, COX15
4myelin sheathGO:00432099.5NDUFA10, NDUFS3, SDHA
5mitochondrial matrixGO:00057599.2NDUFA10, NDUFA9, NDUFS3, NDUFS7, NDUFS8
6mitochondrial respiratory chain complex IGO:00057478.1FOXRED1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFS3
7mitochondrionGO:00057396.0BCS1L, COX10, COX15, FOXRED1, NDUFA9, NDUFAF2
8mitochondrial inner membraneGO:00057435.4COX10, 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:002290410.6NDUFAF2, SDHA
2mitochondrial respiratory chain complex IV assemblyGO:003361710.0BCS1L, SURF1
3ATP biosynthetic processGO:00067549.9MT-ATP6, SURF1
4reactive oxygen species metabolic processGO:00725939.8NDUFAF2, NDUFS3, NDUFS4
5respiratory gaseous exchangeGO:00075859.7COX15, NDUFA12
6heme a biosynthetic processGO:00067849.6COX10, COX15
7aerobic respirationGO:00090609.6COX10, SURF1
8heme biosynthetic processGO:00067839.5COX10, COX15
9mitochondrial electron transport, cytochrome c to oxygenGO:00061239.3COX10, COX15
10respiratory chain complex IV assemblyGO:00085359.1COX10, COX15, SURF1
11hydrogen ion transmembrane transportGO:19026008.9COX10, COX15, SURF1
12cellular respirationGO:00453338.7COX10, COX15, NDUFAF2, NDUFS4
13mitochondrial electron transport, NADH to ubiquinoneGO:00061207.5NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFS3, NDUFS4
14mitochondrial respiratory chain complex I assemblyGO:00329817.1BCS1L, FOXRED1, NDUFA10, NDUFA12, NDUFA2, NDUFA9

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

idNameGO IDScoreTop Affiliating Genes
1transmembrane transporter activityGO:002285710.1MT-ATP6, NDUFAF6
24 iron, 4 sulfur cluster bindingGO:00515399.9NDUFS7, NDUFS8
3NADH dehydrogenase activityGO:00039549.9NDUFA9, NDUFS3, NDUFS7, NDUFS8
4electron carrier activityGO:00090559.3NDUFA12, NDUFAF2, NDUFS3
5cytochrome-c oxidase activityGO:00041298.9COX10, COX15, SURF1
6NADH dehydrogenase (ubiquinone) activityGO:00081377.9NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFS3

Sources for Mitochondrial Dna-Associated Leigh Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet