MILS
MCID: MTC112
MIFTS: 20

Mitochondrial Dna-Associated Leigh Syndrome (MILS) 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 mitochondrial dna-associated leigh syndrome and narp and leigh syndrome. An important gene associated with Mitochondrial Dna-Associated Leigh Syndrome is NDUFAF6 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6), and among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include kidney, heart and brain.

Related Diseases for Mitochondrial Dna-Associated Leigh Syndrome

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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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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:

36
Kidney, Heart, Brain

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 membraneGO:00319669.9COX15, NDUFS3
2mitochondrial respiratory chain complex IGO:00057479.3FOXRED1, NDUFA12, NDUFS3
3respiratory chainGO:00704698.6FOXRED1, NDUFA12, NDUFS3
4mitochondrionGO:00057398.1COX15, FOXRED1, NDUFA12, NDUFAF6, NDUFS3
5membraneGO:00160207.9COX15, FOXRED1, MT-ATP6, NDUFA12, NDUFAF6, NDUFS3
6mitochondrial inner membraneGO:00057437.9COX15, FOXRED1, MT-ATP6, NDUFA12, NDUFAF6, NDUFS3

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial electron transport, NADH to ubiquinoneGO:00061209.9NDUFA12, NDUFS3
2cellular respirationGO:00453339.8COX15, NDUFS3
3respiratory gaseous exchangeGO:00075859.5COX15, NDUFA12
4mitochondrial respiratory chain complex I assemblyGO:00329818.8FOXRED1, NDUFA12, NDUFAF6, NDUFS3
5oxidation-reduction processGO:00551148.5COX15, FOXRED1, NDUFA12, NDUFS3

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

idNameGO IDScoreTop Affiliating Genes
1electron carrier activityGO:00090559.6NDUFA12, NDUFS3
2NADH dehydrogenase (ubiquinone) activityGO:00081379.2NDUFA12, 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