MILS
MCID: MTR017
MIFTS: 16

Maternally Inherited Leigh Syndrome (MILS) malady

Rare diseases category

Summaries for Maternally Inherited Leigh Syndrome

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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 PEX6 (peroxisomal biogenesis factor 6). Affiliated tissues include brain, heart and kidney.

Aliases & Classifications for Maternally Inherited Leigh Syndrome

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44NIH Rare Diseases, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

maternally inherited leigh syndrome 44 63
mils 44 63
subacute necrotizing encephalomyelopathy maternally inherited 44
leigh disease, maternally inherited 44


Related Diseases for Maternally Inherited Leigh Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Maternally Inherited Leigh Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1leigh disease10.5
2infantile apnea10.3
3benign recurrent intrahepatic cholestasis 210.0
4back pain10.0

Symptoms for Maternally Inherited Leigh Syndrome

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Drugs & Therapeutics for Maternally Inherited Leigh Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Maternally Inherited Leigh Syndrome

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Anatomical Context for Maternally Inherited Leigh Syndrome

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34MalaCards
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MalaCards organs/tissues related to Maternally Inherited Leigh Syndrome:

34
Brain, Heart, Kidney

Animal Models for Maternally Inherited Leigh Syndrome or affiliated genes

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Publications for Maternally Inherited Leigh Syndrome

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53PubMed
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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
Maternally inherited Leigh syndrome. (8095070)
1993

Variations for Maternally Inherited Leigh Syndrome

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Expression for genes affiliated with Maternally Inherited Leigh Syndrome

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Maternally Inherited Leigh Syndrome

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Pathways for genes affiliated with Maternally Inherited Leigh Syndrome

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Compounds for genes affiliated with Maternally Inherited Leigh Syndrome

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GO Terms for genes affiliated with Maternally Inherited Leigh Syndrome

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Products for genes affiliated with Maternally Inherited Leigh Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Maternally Inherited Leigh Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet