MCID: MTR058
MIFTS: 13

Maternally-Inherited Progressive External Ophthalmoplegia malady

Neuronal, Eye, Metabolic categories

Summaries for Maternally-Inherited Progressive External Ophthalmoplegia

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33MalaCards
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MalaCards: Maternally-Inherited Progressive External Ophthalmoplegia, also known as maternally-inherited chronic progressive external ophthalmoplegia, is related to mitochondrial disorders and kearns-sayre syndrome. An important gene associated with Maternally-Inherited Progressive External Ophthalmoplegia is MT-TL1 (mitochondrially encoded tRNA leucine 1 (UUA/G)), and among its related pathways is tRNA Aminoacylation.

Aliases & Classifications for Maternally-Inherited Progressive External Ophthalmoplegia

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49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Eye, Metabolic


Characteristics (Orphanet epidemiological data):

49
maternally-inherited chronic progressive external ophthalmoplegia:
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,Sporadic; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

maternally-inherited progressive external ophthalmoplegia 49
maternally-inherited chronic progressive external ophthalmoplegia 49
chronic progressive external ophthalmoplegia 61
maternally-inherited cpeo 49


External Ids:

ICD10 via Orphanet26 H49.4

Related Diseases for Maternally-Inherited Progressive External Ophthalmoplegia

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Maternally-Inherited Progressive External Ophthalmoplegia:



Diseases related to maternally-inherited progressive external ophthalmoplegia

Clinical Features for Maternally-Inherited Progressive External Ophthalmoplegia

Drugs & Therapeutics for Maternally-Inherited Progressive External Ophthalmoplegia

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

Search CenterWatch for Maternally-Inherited Progressive External Ophthalmoplegia

Drug clinical trials:

Search ClinicalTrials for Maternally-Inherited Progressive External Ophthalmoplegia

Search NIH Clinical Center for Maternally-Inherited Progressive External Ophthalmoplegia

Search CenterWatch for Maternally-Inherited Progressive External Ophthalmoplegia

Genetic Tests for Maternally-Inherited Progressive External Ophthalmoplegia

Anatomical Context for Maternally-Inherited Progressive External Ophthalmoplegia

Animal Models for Maternally-Inherited Progressive External Ophthalmoplegia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Maternally-Inherited Progressive External Ophthalmoplegia

Sources:
51PubMed
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Articles related to Maternally-Inherited Progressive External Ophthalmoplegia:

idTitleAuthorsYear
1
Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia. (2515390)
1989

Genetic Variations for Maternally-Inherited Progressive External Ophthalmoplegia

Expression for genes affiliated with Maternally-Inherited Progressive External Ophthalmoplegia

Sources:
15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Maternally-Inherited Progressive External Ophthalmoplegia.

Pathways for genes affiliated with Maternally-Inherited Progressive External Ophthalmoplegia

Sources:
54Reactome, 30KEGG
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Pathways related to Maternally-Inherited Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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8.0MT-TL2, MT-TN, MT-TL1, MT-TS1

Compounds for genes affiliated with Maternally-Inherited Progressive External Ophthalmoplegia

GO Terms for genes affiliated with Maternally-Inherited Progressive External Ophthalmoplegia

Products for genes affiliated with Maternally-Inherited Progressive External Ophthalmoplegia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Maternally-Inherited Progressive External Ophthalmoplegia

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