MILS
MCID: MTR017
MIFTS: 15

Maternally Inherited Leigh Syndrome (MILS) malady

Rare diseases category
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Summaries for Maternally Inherited Leigh Syndrome

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NIH Rare Diseases:42 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 based summary: 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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Maternally Inherited Leigh Syndrome, Aliases & Descriptions:

Name: Maternally Inherited Leigh Syndrome 42 62
Mils 42 62
 
Subacute Necrotizing Encephalomyelopathy Maternally Inherited 42
Leigh Disease, Maternally Inherited 42


Classifications:

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


Related Diseases for Maternally Inherited Leigh Syndrome

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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 210.1

Symptoms for Maternally Inherited Leigh Syndrome

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Drugs & Therapeutics for Maternally Inherited Leigh Syndrome

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Drug clinical trials:

Search ClinicalTrials for Maternally Inherited Leigh Syndrome

Search NIH Clinical Center for Maternally Inherited Leigh Syndrome

Genetic Tests for Maternally Inherited Leigh Syndrome

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Anatomical Context for Maternally Inherited Leigh Syndrome

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MalaCards organs/tissues related to Maternally Inherited Leigh Syndrome:

32
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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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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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

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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

Sources for Maternally Inherited Leigh Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet