MCID: MTR058
MIFTS: 14

Maternally-Inherited Progressive External Ophthalmoplegia malady

Categories: Neuronal diseases, Eye diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Maternally-Inherited Progressive External Ophthalmoplegia

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Sources:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Maternally-Inherited Progressive External Ophthalmoplegia:

Name: Maternally-Inherited Progressive External Ophthalmoplegia 54
Maternally-Inherited Chronic Progressive External Ophthalmoplegia 54
 
Maternally-Inherited Cpeo 54

Characteristics:

Orphanet epidemiological data:

54
maternally-inherited chronic progressive external ophthalmoplegia:
Inheritance: Mitochondrial inheritance,Not applicable; Age of onset: Adolescent,Adult; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet54 ORPHA663
ICD10 via Orphanet31 H49.4

Summaries for Maternally-Inherited Progressive External Ophthalmoplegia

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MalaCards based summary: Maternally-Inherited Progressive External Ophthalmoplegia, also known as maternally-inherited chronic progressive external ophthalmoplegia, is related to chronic progressive external ophthalmoplegia and myoclonic epilepsy associated with ragged-red fibers. 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.

Related Diseases for Maternally-Inherited Progressive External Ophthalmoplegia

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Graphical network of diseases related to Maternally-Inherited Progressive External Ophthalmoplegia:



Diseases related to maternally-inherited progressive external ophthalmoplegia

Symptoms & Phenotypes for Maternally-Inherited Progressive External Ophthalmoplegia

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Drugs & Therapeutics for Maternally-Inherited Progressive External Ophthalmoplegia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Mitochondrial nt3243 A>G Mutation in TaiwanUnknown statusNCT02114554

Search NIH Clinical Center 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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MalaCards organs/tissues related to Maternally-Inherited Progressive External Ophthalmoplegia:

36
Eye

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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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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Pathways related to Maternally-Inherited Progressive External Ophthalmoplegia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.0MT-TL1, MT-TL2, MT-TN, MT-TS1

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

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Sources for Maternally-Inherited Progressive External Ophthalmoplegia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet