MILS
MCID: MTC112
MIFTS: 20

Mitochondrial Dna-Associated Leigh Syndrome (MILS) malady

Categories: Rare diseases

Aliases & Classifications for Mitochondrial Dna-Associated Leigh Syndrome

Aliases & Descriptions for Mitochondrial Dna-Associated Leigh Syndrome:

Name: Mitochondrial Dna-Associated Leigh Syndrome 50
Maternally Inherited Leigh Syndrome 50 69
Subacute Necrotizing Encephalomyelopathy Maternally Inherited 50
Leigh Disease, Maternally Inherited 50
Mils 50

Classifications:



Summaries for Mitochondrial Dna-Associated Leigh Syndrome

NIH Rare Diseases : 50 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/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include heart, kidney and brain.

Related Diseases for Mitochondrial Dna-Associated Leigh Syndrome

Graphical network of the top 20 diseases related to Mitochondrial Dna-Associated Leigh Syndrome:



Diseases related to Mitochondrial Dna-Associated Leigh Syndrome

Symptoms & Phenotypes for Mitochondrial Dna-Associated Leigh Syndrome

Drugs & Therapeutics for Mitochondrial Dna-Associated Leigh Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Mitochondrial Dna-Associated Leigh Syndrome

Genetic Tests for Mitochondrial Dna-Associated Leigh Syndrome

Anatomical Context for Mitochondrial Dna-Associated Leigh Syndrome

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

39
Heart, Kidney, Brain

Publications for Mitochondrial Dna-Associated Leigh Syndrome

Articles related to Mitochondrial Dna-Associated Leigh Syndrome:

id Title Authors Year
1
Mitochondrial DNA-Associated Leigh Syndrome and NARP ( 20301352 )
1993

Variations for Mitochondrial Dna-Associated Leigh Syndrome

Expression for Mitochondrial Dna-Associated Leigh Syndrome

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

Pathways for Mitochondrial Dna-Associated Leigh Syndrome

GO Terms for Mitochondrial Dna-Associated Leigh Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.85 COX15 FOXRED1 MT-ATP6 NDUFA12 NDUFAF6 NDUFS3
2 mitochondrion GO:0005739 9.65 COX15 FOXRED1 NDUFA12 NDUFAF6 NDUFS3
3 respiratory chain GO:0070469 9.33 FOXRED1 NDUFA12 NDUFS3
4 mitochondrial membrane GO:0031966 9.32 COX15 NDUFS3
5 mitochondrial respiratory chain complex I GO:0005747 9.13 FOXRED1 NDUFA12 NDUFS3
6 mitochondrial inner membrane GO:0005743 9.1 COX15 FOXRED1 MT-ATP6 NDUFA12 NDUFAF6 NDUFS3

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

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.46 COX15 FOXRED1 NDUFA12 NDUFS3
2 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.32 NDUFA12 NDUFS3
3 respiratory gaseous exchange GO:0007585 9.26 COX15 NDUFA12
4 cellular respiration GO:0045333 8.96 COX15 NDUFS3
5 mitochondrial respiratory chain complex I assembly GO:0032981 8.92 FOXRED1 NDUFA12 NDUFAF6 NDUFS3

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

id Name GO ID Score Top Affiliating Genes
1 electron carrier activity GO:0009055 8.96 NDUFA12 NDUFS3
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.62 NDUFA12 NDUFS3

Sources for Mitochondrial Dna-Associated Leigh Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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