PEO
MCID: CHR095
MIFTS: 55

Chronic Progressive External Ophthalmoplegia (PEO) malady

Genetic diseases, Rare diseases, Muscle diseases, Eye diseases, Neuronal diseases categories
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Summaries for Chronic Progressive External Ophthalmoplegia

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43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Chronic progressive external ophthalmoplegia (cpeo) is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. signs and symptoms tend to begin in early adulthood and most commonly include weakness or paralysis of the muscles that move the eye (ophthalmoplegia) and drooping of the eyelids (ptosis). some affected individuals also have general weakness of the skeletal muscles (myopathy), which may be especially noticeable during exercise. muscle weakness may also cause difficulty swallowing (dysphagia). cpeo can be caused by mutations in any of several genes, which may be located in mitochondrial dna or nuclear dna. it has different inheritance patterns depending on the gene involved in the affected individual.cpeo can occur as part of other underlying conditions, such as ataxia neuropathy spectrum and kearns-sayre syndrome. these conditions may not only involve cpeo, but various additional features that are not shared by most individuals with cpeo. last updated: 10/10/2013

MalaCards: Chronic Progressive External Ophthalmoplegia, also known as progressive external ophthalmoplegia, is related to kearns-sayre syndrome and myopathy. An important gene associated with Chronic Progressive External Ophthalmoplegia is RRM2B (ribonucleotide reductase M2 B (TP53 inducible)), and among its related pathways are Nucleotide Metabolism and Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins. The compounds abacavir and mibg have been mentioned in the context of this disorder. Affiliated tissues include eye, skeletal muscle and retina, and related mouse phenotypes are adipose tissue and cellular.

Genetics Home Reference:21 Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia).

Wikipedia:65 Chronic progressive external ophthalmoplegia (CPEO), also known as progressive external ophthalmoplegia... more...

Aliases & Classifications for Chronic Progressive External Ophthalmoplegia

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8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 62UMLS, 35MeSH, 58SNOMED-CT, 27ICD9CM
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Classifications:



Aliases & Descriptions:

chronic progressive external ophthalmoplegia 8 43 21 10 62
progressive external ophthalmoplegia 8 43 20 22 21 45
cpeo 43 21
peo 21


External Ids:

Disease Ontology8 DOID:12558
MeSH35 D017246
ICD9CM27 378.72

Related Diseases for Chronic Progressive External Ophthalmoplegia

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17GeneCards, 18GeneDecks
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Diseases in the Chronic Progressive External Ophthalmoplegia family:

Total Internal Ophthalmoplegia Ophthalmoplegia

Diseases related to Chronic Progressive External Ophthalmoplegia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1kearns-sayre syndrome31.2COX5A
2myopathy30.9POLG, SDHB, PIK3C2A, COX5A
3neuropathy30.7PIK3C2A, POLG, C10orf2
4ophthalmoplegia11.3
5autosomal dominant progressive external ophthalmoplegia10.9
6autosomal recessive progressive external ophthalmoplegia10.7
7progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 410.6
8cerebellar ataxia infantile with progressive external ophthalmoplegia10.6
9progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 510.5
10strabismus10.5
11adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy10.5
12progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 310.5
13progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 210.5
14progressive external ophthalmoplegia with mitochondrial dna deletions 310.5
15progressive external ophthalmoplegia, autosomal dominant, 310.5
16pigmentary retinopathy10.4
17maternally-inherited progressive external ophthalmoplegia10.4
18tremor10.4
19progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 610.4
20hypogonadism10.3
21horizontal gaze palsy with progressive scoliosis10.3
22mitochondrial dna depletion syndrome 1110.3
23atrioventricular block10.3
24third-degree atrioventricular block10.3
25neuronitis10.3
26sensorineural hearing loss10.3
27cystoid macular edema10.3
28familial hypercholesterolemia10.3
29esophagitis10.3
30keratopathy10.3
31motor neuron disease10.3
32multiple sclerosis10.3
33retinitis10.3
34ocular muscular dystrophy10.3
35hypercholesterolemia10.3
36ataxia10.3
37x-linked ichthyosis10.2
38oculopharyngeal muscular dystrophy10.2
39nemaline myopathy10.2
40hereditary sensory neuropathy10.2
41muscular dystrophy10.2
42peripheral neuropathy10.2
43opa3-related 3-methylglutaconic aciduria10.2
44optic atrophy type 110.2
45encephalomyopathy10.2
46rigid spine syndrome10.2
47mental retardation10.2
48myoclonus10.2
49mitochondrial dna depletion syndrome 4b10.2
50mitochondrial dna depletion syndrome 110.2

Graphical network of the top 20 diseases related to Chronic Progressive External Ophthalmoplegia:



Diseases related to chronic progressive external ophthalmoplegia

Symptoms for Chronic Progressive External Ophthalmoplegia

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Drugs & Therapeutics for Chronic Progressive External Ophthalmoplegia

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Chronic Progressive External Ophthalmoplegia

Search NIH Clinical Center for Chronic Progressive External Ophthalmoplegia

Genetic Tests for Chronic Progressive External Ophthalmoplegia

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20GeneTests, 22GTR
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Genetic tests related to Chronic Progressive External Ophthalmoplegia:

id Genetic test Affiliating Genes
1 Progressive External Ophthalmoplegia20 22

Anatomical Context for Chronic Progressive External Ophthalmoplegia

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33MalaCards
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MalaCards organs/tissues related to Chronic Progressive External Ophthalmoplegia:

33
Eye, Skeletal muscle, Retina, Brain, Skin, Heart

Animal Models for Chronic Progressive External Ophthalmoplegia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Chronic Progressive External Ophthalmoplegia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.9LDLR, POLG, RRM2B, PIK3C2A
2MP:00053847.6SLC25A4, C10orf2, TYMP, RRM2B, POLG, POLG2

Publications for Chronic Progressive External Ophthalmoplegia

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52PubMed
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Articles related to Chronic Progressive External Ophthalmoplegia:

(show top 50)    (show all 136)
idTitleAuthorsYear
1
Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia. (21533826)
2011
2
Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia. (21292040)
2011
3
A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle. (20810132)
2010
4
Morphological findings of extraocular myopathy with chronic progressive external ophthalmoplegia. (20192704)
2010
5
Chronic progressive external ophthalmoplegia with recurrent quadriparesis : an unusual presentation. (21045517)
2010
6
Cystoid macular edema in a patient with chronic progressive external ophthalmoplegia with mitochondrial myopathy. (19172512)
2009
7
Assessment of visual function in chronic progressive external ophthalmoplegia. (15920569)
2006
8
Chronic progressive external ophthalmoplegia: MR spectroscopy and MR diffusion studies in the brain. (16928952)
2006
9
Update on chronic progressive external ophthalmoplegia. (16251143)
2005
10
Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber's hereditary optic neuropathy. (15965159)
2005
11
Ocular motility findings in chronic progressive external ophthalmoplegia. (15272295)
2005
12
Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. (12690061)
2003
13
The evaluation of chronic progressive external ophthalmoplegia with computerized tomography. (11998886)
2001
14
Congenital mitochondrial cytopathy and chronic progressive external ophthalmoplegia. (11511285)
2001
15
Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia. (11594340)
2001
16
A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia. (9808249)
1998
17
Mitochondrial gene defect in patients with chronic progressive external ophthalmoplegia. (11245066)
1998
18
MR of extraocular muscles in chronic progressive external ophthalmoplegia. (9432164)
1998
19
Chronic progressive external ophthalmoplegia. (9470333)
1997
20
Pregnancy in chronic progressive external ophthalmoplegia: a case report. (9259947)
1997
21
Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia. (8606699)
1996
22
Autosomal dominant chronic progressive external ophthalmoplegia: a tale of two genomes. (8957008)
1996
23
Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients. (7496174)
1995
24
Mitochondrial disease with chronic progressive external ophthalmoplegia: clinical analysis of 19 cases. (8167995)
1994
25
Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene. (7980504)
1994
26
Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia. (1542564)
1992
27
Histological, enzymatic and mitochondrial DNA studies in patients with Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia. (1646110)
1991
28
Neurogenic muscle weakness in chronic progressive external ophthalmoplegia (CPEO) (2266992)
1990
29
Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. (1965208)
1990
30
Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia. (2515390)
1989
31
Chronic progressive external ophthalmoplegia. (2486116)
1989
32
Chronic progressive external ophthalmoplegia. I. A quantitative histochemical study of skeletal muscles. (3202711)
1988
33
Morphometric and biochemical study of muscle mitochondria in adult chronic progressive external ophthalmoplegia. (2846963)
1988
34
Treatment of ptosis in chronic progressive external ophthalmoplegia. (3580341)
1987
35
Single fiber electromyography in chronic progressive external ophthalmoplegia. (3587264)
1987
36
Partial cytochrome oxidase (aa3) deficiency in chronic progressive external ophthalmoplegia. Histochemical and biochemical studies. (2418159)
1985
37
Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO). (4058877)
1985
38
A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia. (6308177)
1983
39
Orbicularis oculi muscle in chronic progressive external ophthalmoplegia. (7387511)
1980
40
Extraocular muscle biopsy in chronic progressive external ophthalmoplegia. (554523)
1979
41
Pigment changes of the retina in chronic progressive external ophthalmoplegia (CPEO). (211791)
1978
42
Third degree atrioventricular block, chronic progressive external ophthalmoplegia and pigmentary degeneration of retina. Case report and survey of the literature. (626112)
1978
43
Chronic progressive external ophthalmoplegia. (1182488)
1975
44
Chronic progressive external ophthalmoplegia. (4463559)
1974
45
Chronic progressive external ophthalmoplegia: association with retinal pigmentary changes and evidence in favor of ocular myopathy. (5045490)
1972
46
Chronic progressive external ophthalmoplegia and pigmentary degeneration of the retina. (5579163)
1971
47
Chronic progressive external ophthalmoplegia. A critical review. (4901421)
1969
48
Chronic progressive external ophthalmoplegia. A review and case report. (5979364)
1966
49
Chronic progressive external ophthalmoplegia. (15397506)
1949
50
Chronic Progressive External Ophthalmoplegia: Report of a Case with Necropsy. (16692796)
1928

Variations for Chronic Progressive External Ophthalmoplegia

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Expression for genes affiliated with Chronic Progressive External Ophthalmoplegia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chronic Progressive External Ophthalmoplegia

Search GEO for disease gene expression data for Chronic Progressive External Ophthalmoplegia.

Pathways for genes affiliated with Chronic Progressive External Ophthalmoplegia

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50PathCards, 38NCBI BioSystems Database, 60Thomson Reuters, 55Reactome, 30KEGG
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Compounds for genes affiliated with Chronic Progressive External Ophthalmoplegia

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51PharmGKB, 45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Chronic Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1abacavir51 45 1112.1POLG, POLG2
2mibg459.9SDHB, PIK3C2A
3cidofovir45 1110.9POLG, TYMP
4lamivudine45 51 1111.9POLG2, POLG
5dttp459.9TYMP, POLG
6deoxyguanosine45 2410.9TYMP, POLG
7gemfibrozil29 45 1111.7LDLR, PIK3C2A
8nucleoside459.6POLG2, POLG, TYMP
9didanosine45 51 1111.6COX5A, POLG
10nevirapine45 51 1111.5COX5A, POLG
11ethidium bromide459.4POLG, COX5A
12phosphocreatine45 2410.4COX5A, PIK3C2A
13diethyl dithiocarbamate459.3POLG, POLG2, COX5A
14cardiolipin45 1110.3SLC25A4, COX5A
15crcs459.2TYMP, COX5A
16steroidal459.2TYMP, COX5A
17bezafibrate45 29 1111.2LDLR, PIK3C2A
18cyclosporin a45 29 6111.1SLC25A4, LDLR, SDHB, PIK3C2A
19citrate459.1PIK3C2A, SDHB, COX5A
20pyruvate459.1COX5A, SDHB, PIK3C2A
21thromboxane45 2410.0COX5A, TYMP, PIK3C2A
22thromboxane a245 2410.0COX5A, TYMP, PIK3C2A
23aspirin45 51 29 2412.0TYMP, LDLR, COX5A
24iron45 249.9COX5A, RRM2B, SDHB, PIK3C2A
25methotrexate51 45 1110.9COX5A, TYMP, PIK3C2A
26zidovudine45 51 1110.8COX5A, POLG2, POLG, TYMP
27ascorbic acid45 249.7PIK3C2A, SDHB, LDLR, COX5A
28lactate458.7COX5A, POLG, SDHB, PIK3C2A
29fatty acid458.7PIK3C2A, LDLR, COX5A, SLC25A4
30indomethacin45 29 61 1111.6TYMP, LDLR, COX5A
31prostacyclin458.6COX5A, LDLR, TYMP, PIK3C2A
32cholesterol45 29 24 1111.6PIK3C2A, SDHB, LDLR, COX5A
33creatinine458.3PIK3C2A, TYMP, SDHB, COX5A, SLC25A4
34vegf458.3COX5A, SDHB, TYMP, PIK3C2A
35lipid458.2PIK3C2A, SDHB, LDLR, COX5A, SLC25A4
36oxygen45 248.7SLC25A4, PIK3C2A, TYMP, SDHB, RRM2B, POLG
37atp45 298.6PIK3C2A, TYMP, SDHB, POLG, POLG2, COX5A

GO Terms for genes affiliated with Chronic Progressive External Ophthalmoplegia

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16Gene Ontology
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Cellular components related to Chronic Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:0426459.1POLG2, POLG, C10orf2
2mitochondrial inner membraneGO:0057438.5SLC25A4, COX5A, POLG, SDHB

Biological processes related to Chronic Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA-dependent DNA replicationGO:0062619.7POLG2, POLG
2mitochondrial DNA replicationGO:0062649.5POLG, RRM2B, C10orf2
3mitochondrial genome maintenanceGO:0000029.3SLC25A4, TYMP
4small molecule metabolic processGO:0442817.1PIK3C2A, TYMP, SDHB, RRM2B, LDLR, COX5A

Molecular functions related to Chronic Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA-directed DNA polymerase activityGO:0038879.7POLG2, POLG

Products for genes affiliated with Chronic Progressive External Ophthalmoplegia

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Sources for Chronic Progressive External Ophthalmoplegia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet