MCID: MTR058
MIFTS: 13

Maternally-Inherited Progressive External Ophthalmoplegia malady

Neuronal diseases, Eye diseases, Rare diseases categories

Summaries for Maternally-Inherited Progressive External Ophthalmoplegia

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34MalaCards
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MalaCards: Maternally-Inherited Progressive External Ophthalmoplegia, also known as maternally-inherited chronic progressive external ophthalmoplegia, is related to chronic progressive external ophthalmoplegia and ophthalmoplegia. An important gene associated with Maternally-Inherited Progressive External Ophthalmoplegia is MT-TL2 (mitochondrially encoded tRNA leucine 2 (CUN)), and among its related pathways is tRNA Aminoacylation. Affiliated tissues include eye.

Aliases & Classifications for Maternally-Inherited Progressive External Ophthalmoplegia

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Sources:
50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

50
maternally-inherited chronic progressive external ophthalmoplegia:
Inheritance: Mitochondrial inheritance,Sporadic; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

maternally-inherited progressive external ophthalmoplegia 50
maternally-inherited chronic progressive external ophthalmoplegia 50
chronic progressive external ophthalmoplegia 63
maternally-inherited cpeo 50


External Ids:

ICD10 via Orphanet27 H49.4

Related Diseases for Maternally-Inherited Progressive External Ophthalmoplegia

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Maternally-Inherited Progressive External Ophthalmoplegia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1chronic progressive external ophthalmoplegia10.4
2ophthalmoplegia10.4
3mitochondrial disorders10.0MT-TL2, MT-TL1

Symptoms for Maternally-Inherited Progressive External Ophthalmoplegia

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Drugs & Therapeutics for Maternally-Inherited Progressive External Ophthalmoplegia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Anatomical Context for Maternally-Inherited Progressive External Ophthalmoplegia

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Sources:
34MalaCards
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MalaCards organs/tissues related to Maternally-Inherited Progressive External Ophthalmoplegia:

34
Eye

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

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Publications for Maternally-Inherited Progressive External Ophthalmoplegia

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Variations for Maternally-Inherited Progressive External Ophthalmoplegia

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Expression for genes affiliated with Maternally-Inherited Progressive External Ophthalmoplegia

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Sources:
16Gene 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

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Sources:
51PathCards, 56Reactome, 31KEGG
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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
Show member pathways
8.0MT-TL2, MT-TN, MT-TS1, MT-TL1

Compounds for genes affiliated with Maternally-Inherited Progressive External Ophthalmoplegia

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

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Products for genes affiliated with Maternally-Inherited Progressive External Ophthalmoplegia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Maternally-Inherited Progressive External Ophthalmoplegia

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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