MCID: MTR058
MIFTS: 17

Maternally-Inherited Progressive External Ophthalmoplegia malady

Neuronal diseases, Eye diseases, Metabolic diseases categories

Summaries for Maternally-Inherited Progressive External Ophthalmoplegia

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32MalaCards
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MalaCards: Maternally-Inherited Progressive External Ophthalmoplegia, also known as maternally-inherited chronic progressive external ophthalmoplegia, is related to mitochondrial disorders and kearns-sayre syndrome. An important gene associated with Maternally-Inherited Progressive External Ophthalmoplegia is MT-TL1 (mitochondrially encoded tRNA leucine 1 (UUA/G)), 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:
60UMLS, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

maternally-inherited progressive external ophthalmoplegia 48
maternally-inherited chronic progressive external ophthalmoplegia 48
chronic progressive external ophthalmoplegia 60
maternally-inherited cpeo 48


External Ids:

ICD10 via Orphanet26 H49.4

Related Diseases for Maternally-Inherited Progressive External Ophthalmoplegia

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17GeneCards, 18GeneDecks
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Diseases related to Maternally-Inherited Progressive External Ophthalmoplegia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 23)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial disorders30.3MT-TL2, MT-TL1
2kearns-sayre syndrome10.7
3myopathy10.6
4neuropathy10.5
5strabismus10.5
6adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy10.5
7chronic progressive external ophthalmoplegia10.4
8ophthalmoplegia10.4
9atrioventricular block10.2
10sensorineural hearing loss10.2
11cystoid macular edema10.2
12exophthalmos10.2
13neuronitis10.2
14wolfram syndrome10.2
15familial hypercholesterolemia10.2
16esophagitis10.2
17eye disease10.2
18keratopathy10.2
19motor neuron disease10.2
20multiple sclerosis10.2
21optic atrophy10.2
22retinitis10.2
23ocular muscular dystrophy10.2

Graphical network of the top 20 diseases related to Maternally-Inherited Progressive External Ophthalmoplegia:



Diseases related to maternally-inherited progressive external ophthalmoplegia

Clinical Features for Maternally-Inherited Progressive External Ophthalmoplegia

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Drugs & Therapeutics for Maternally-Inherited Progressive External Ophthalmoplegia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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32MalaCards
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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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Genetic 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:
15Gene 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:
53Reactome, 29KEGG
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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
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8.0MT-TL2, MT-TN, MT-TL1, MT-TS1

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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet