MILS
MCID: MTR017
MIFTS: 21

Maternally Inherited Leigh Syndrome (MILS) malady

Summaries for Maternally Inherited Leigh Syndrome

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Maternally inherited leigh syndrome (mils) 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. mils 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 mils. 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 mils to their children. last updated: 12/29/2009

MalaCards: Maternally Inherited Leigh Syndrome, also known as MILS, is related to leigh disease and infantile apnea. An important gene associated with Maternally Inherited Leigh Syndrome is MT-ATP6 (mitochondrially encoded ATP synthase 6). The compounds oligomycin and actomyosin have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and kidney.

Aliases & Classifications for Maternally Inherited Leigh Syndrome

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43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

maternally inherited leigh syndrome 43 61
mils 43 61
subacute necrotizing encephalomyelopathy maternally inherited 43
leigh disease, maternally inherited 43


Related Diseases for Maternally Inherited Leigh Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Maternally Inherited Leigh Syndrome:



Diseases related to maternally inherited leigh syndrome

Clinical Features for Maternally Inherited Leigh Syndrome

Drugs & Therapeutics for Maternally Inherited Leigh Syndrome

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Maternally Inherited Leigh Syndrome

Genetic Tests for Maternally Inherited Leigh Syndrome

Anatomical Context for Maternally Inherited Leigh Syndrome

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33MalaCards
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MalaCards organs/tissues related to Maternally Inherited Leigh Syndrome:

33
Brain, Heart, Kidney

Animal Models for Maternally Inherited Leigh Syndrome or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Maternally Inherited Leigh Syndrome

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51PubMed
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Articles related to Maternally Inherited Leigh Syndrome:

idTitleAuthorsYear
1
Maternally inherited Leigh syndrome: an unusual cause of infantile apnea. (19669818)
2010
2
Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome. (20472868)
2010
3
Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family. (19433277)
2009
4
Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis. (15228605)
2004
5
Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation. (8750605)
1995
6
Maternally inherited Leigh syndrome. (8095070)
1993

Genetic Variations for Maternally Inherited Leigh Syndrome

Expression for genes affiliated with Maternally Inherited Leigh Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Maternally Inherited Leigh Syndrome

Search GEO for disease gene expression data for Maternally Inherited Leigh Syndrome.

Pathways for genes affiliated with Maternally Inherited Leigh Syndrome

Compounds for genes affiliated with Maternally Inherited Leigh Syndrome

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 24HMDB
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Compounds related to Maternally Inherited Leigh Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1oligomycin459.5DNAH8, MT-ATP6
2actomyosin459.4PEX6, DNAH8
3prednisolone45 29 1111.1DNAH8, TNF
4calcitriol45 60 11 2412.1DNAH8, TNF
5curcumin458.8DNAH8, TNF
6atp45 299.7MT-ATP6, DNAH8, PEX6

GO Terms for genes affiliated with Maternally Inherited Leigh Syndrome

Sources:
16Gene Ontology
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Molecular functions related to Maternally Inherited Leigh Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATPase activityGO:0168879.3PEX6, DNAH8

Products for genes affiliated with Maternally Inherited Leigh Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Maternally Inherited Leigh Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet