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:
30ICD10 via Orphanet, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for Maternally-Inherited Progressive External Ophthalmoplegia:

Name: Maternally-Inherited Progressive External Ophthalmoplegia 53
Maternally-Inherited Chronic Progressive External Ophthalmoplegia 53
 
Maternally-Inherited Cpeo 53

Characteristics:

Orphanet epidemiological data:

53
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:

Orphanet53 ORPHA663
ICD10 via Orphanet30 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 multiple epiphyseal dysplasia with robin phenotype. An important gene associated with Maternally-Inherited Progressive External Ophthalmoplegia is MT-TS1 (Mitochondrially Encoded TRNA Serine 1 (UCN)), 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 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:

35
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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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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet