MCID: MTR058
MIFTS: 13

Maternally-Inherited Progressive External Ophthalmoplegia malady

Neuronal diseases, Eye diseases, Metabolic diseases, Rare diseases categories
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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 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:
48Orphanet, 26ICD10 via Orphanet
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Maternally-Inherited Progressive External Ophthalmoplegia, Aliases & Descriptions:

Name: Maternally-Inherited Progressive External Ophthalmoplegia 48
Maternally-Inherited Chronic Progressive External Ophthalmoplegia 48
 
Maternally-Inherited Cpeo 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
maternally-inherited chronic progressive external ophthalmoplegia:
Inheritance: Mitochondrial inheritance,Sporadic; Age of onset: Adolescence / Young adulthood; Age of death: Normal


External Ids:

ICD10 via Orphanet26 H49.4

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/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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Drug clinical trials:

Search ClinicalTrials for Maternally-Inherited Progressive External Ophthalmoplegia

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:

32
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/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

Sources for Maternally-Inherited Progressive External Ophthalmoplegia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet