MCID: MTR058
MIFTS: 13

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:
51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Maternally-Inherited Progressive External Ophthalmoplegia:

Name: Maternally-Inherited Progressive External Ophthalmoplegia 51
Maternally-Inherited Chronic Progressive External Ophthalmoplegia 51
 
Maternally-Inherited Cpeo 51

Characteristics:

Orphanet epidemiological data:

51
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:

Orphanet51 663
ICD10 via Orphanet28 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 gestational diabetes and thoracic outlet syndrome. 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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Diseases related to Maternally-Inherited Progressive External Ophthalmoplegia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gestational diabetes10.4
2thoracic outlet syndrome9.9MT-TL1, MT-TS1
3plexopathy9.9MT-TL1, MT-TS1
4mitochondrial complex iv deficiency9.6MT-TL1, MT-TN
5alcoholic cardiomyopathy9.6MT-TL1, MT-TL2
6mitochondrial membrane protein-associated neurodegeneration9.4MT-TL1, MT-TL2, MT-TS1
7malignant mixed epithelial mesenchymal tumor of ovary9.0MT-TL1, MT-TL2, MT-TN, MT-TS1

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 TaiwanRecruitingNCT02114554

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:

33
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet