PEO
MCID: CHR095
MIFTS: 50

Chronic Progressive External Ophthalmoplegia (PEO) malady

Summaries for Chronic Progressive External Ophthalmoplegia

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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 ophthalmoplegia and kearns-sayre syndrome. An important gene associated with Chronic Progressive External Ophthalmoplegia is RRM2B (ribonucleotide reductase M2 B (TP53 inducible)), and among its related pathways are tRNA Aminoacylation and Purine metabolism. The compounds cidofovir and abacavir have been mentioned in the context of this disorder. Affiliated tissues include eye, skeletal muscle and retina.

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:63 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, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH, 27ICD9CM
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Aliases & Descriptions:

chronic progressive external ophthalmoplegia 8 42 21 10 60
progressive external ophthalmoplegia 8 42 20 22 21 44
cpeo 42 21
peo 21


External Ids:

Disease Ontology8 DOID:12558
MeSH34 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
1ophthalmoplegia31.9TYMP, SLC25A4
2kearns-sayre syndrome31.0COX5A
3myopathy30.9PIK3C2A, COX5A, DGUOK, POLG
4neuropathy30.6PIK3C2A, C10orf2, POLG
5hypogonadism30.4POLG
6mitochondrial disorders30.3DGUOK, SUCLA2
7autosomal recessive progressive external ophthalmoplegia10.6
8progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 410.5
9autosomal dominant progressive external ophthalmoplegia10.5
10cerebellar ataxia infantile with progressive external ophthalmoplegia10.5
11progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 510.5
12strabismus10.5
13adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy10.5
14progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 310.4
15progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 210.4
16progressive external ophthalmoplegia with mitochondrial dna deletions 310.4
17progressive external ophthalmoplegia, autosomal dominant, 310.4
18maternally-inherited progressive external ophthalmoplegia10.4
19progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 610.4
20hereditary sensory neuropathy10.3
21horizontal gaze palsy with progressive scoliosis10.3
22mitochondrial dna depletion syndrome 1110.3
23atrioventricular block10.2
24sensorineural hearing loss10.2
25cystoid macular edema10.2
26exophthalmos10.2
27neuronitis10.2
28wolfram syndrome10.2
29familial hypercholesterolemia10.2
30esophagitis10.2
31eye disease10.2
32keratopathy10.2
33motor neuron disease10.2
34multiple sclerosis10.2
35optic atrophy10.2
36retinitis10.2
37ocular muscular dystrophy10.2
38x-linked ichthyosis10.1
39nemaline myopathy10.1
40melas syndrome10.1
41conduct disorder10.1
42oculopharyngeal muscular dystrophy10.1
43autosomal dominant disease10.1
44autosomal genetic disease10.1
45mitochondrial encephalomyopathy10.1
46muscular dystrophy10.1
47peripheral neuropathy10.1
48hereditary ataxia10.1
49mitochondrial dna deletion syndromes10.1
50opa3-related 3-methylglutaconic aciduria10.1

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



Diseases related to chronic progressive external ophthalmoplegia

Clinical Features for Chronic Progressive External Ophthalmoplegia

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Drugs & Therapeutics for Chronic Progressive External Ophthalmoplegia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Chronic Progressive External Ophthalmoplegia

Drug clinical trials:

Search ClinicalTrials for Chronic Progressive External Ophthalmoplegia

Search NIH Clinical Center for Chronic Progressive External Ophthalmoplegia

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Chronic Progressive External Ophthalmoplegia:

32
Eye, Skeletal muscle, Retina, Brain, Skin, Heart

Animal Models for Chronic Progressive External Ophthalmoplegia or affiliated genes

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Publications for Chronic Progressive External Ophthalmoplegia

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50PubMed
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Articles related to Chronic Progressive External Ophthalmoplegia:

(show top 50)    (show all 138)
idTitleAuthorsYear
1
No association between mitochondrial tRNA(Val) T1658C mutation and chronic progressive external ophthalmoplegia (CPEO). (23815321)
2013
2
The mutations m.5628T>C and m.8348A>G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia. (22743145)
2012
3
Multisystem disorder in late-onset chronic progressive external ophthalmoplegia. (21156440)
2011
4
Chronic progressive external ophthalmoplegia with recurrent quadriparesis : an unusual presentation. (21045517)
2010
5
Eye movement recordings to investigate a supranuclear component in chronic progressive external ophthalmoplegia: a cross-sectional study. (20576783)
2010
6
A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO). (20149659)
2010
7
Cystoid macular edema in a patient with chronic progressive external ophthalmoplegia with mitochondrial myopathy. (19172512)
2009
8
Dynamic properties of eye movements in mitochondrial chronic progressive external ophthalmoplegia. (17962819)
2009
9
Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA. (18603265)
2008
10
Frontalis sling operation using silicone rod for the correction of ptosis in chronic progressive external ophthalmoplegia. (18786957)
2008
11
Chronic progressive external ophthalmoplegia: a report of 6 cases and a review of the literature. (17215725)
2007
12
Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle. (17965958)
2007
13
Assessment of visual function in chronic progressive external ophthalmoplegia. (15920569)
2006
14
Orbital magnetic resonance imaging of extraocular muscles in chronic progressive external ophthalmoplegia: specific diagnostic findings. (17070475)
2006
15
Mitochondrial myopathy with chronic progressive external ophthalmoplegia. (12140885)
2002
16
Impaired glucose effectiveness in chronic progressive external ophthalmoplegia. (12037739)
2002
17
Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia. (11594340)
2001
18
Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. (10707142)
1999
19
Mitochondrial gene defect in patients with chronic progressive external ophthalmoplegia. (11245066)
1998
20
MR of extraocular muscles in chronic progressive external ophthalmoplegia. (9432164)
1998
21
A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis. (9473477)
1998
22
Brain metabolic profiles obtained by proton MRS in two forms of mitochondriopathies: Leber's hereditary optic neuropathy and chronic progressive external ophthalmoplegia. (9693232)
1998
23
Surgical management of strabismus associated with chronic progressive external ophthalmoplegia. (9111265)
1997
24
Mitochondrial DNA defects in Brazilian patients with chronic progressive external ophthalmoplegia. (9415537)
1997
25
Cardiac dysfunction in patients with chronic progressive external ophthalmoplegia. (9068909)
1997
26
Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia. (8606699)
1996
27
Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients. (7496174)
1995
28
Mitochondrial disease with chronic progressive external ophthalmoplegia: clinical analysis of 19 cases. (8167995)
1994
29
"All-or-none" cytochrome c oxidase positivity in mitochondria in chronic progressive external ophthalmoplegia: an ultrastructural--cytochemical study. (8381519)
1993
30
Chronic progressive external ophthalmoplegia and myalgia associated with tubular aggregates. (8333245)
1993
31
Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia. (1542564)
1992
32
Mitochondrial creatine kinase containing crystals, creatine content and mitochondrial creatine kinase activity in chronic progressive external ophthalmoplegia. (1525556)
1992
33
Chronic progressive external ophthalmoplegia with NADH-CoQ reductase deficiency: report of a case. (1326393)
1992
34
Neurogenic muscle weakness in chronic progressive external ophthalmoplegia (CPEO) (2266992)
1990
35
Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. (1965208)
1990
36
Chronic progressive external ophthalmoplegia (CPEO) with 'ragged red fibers'--a case report. (2597365)
1989
37
Partial cytochrome oxidase (aa3) deficiency in chronic progressive external ophthalmoplegia. Histochemical and biochemical studies. (2418159)
1985
38
Partial cytochrome oxidase deficiency without subsarcolemmal accumulation of mitochondria in chronic progressive external ophthalmoplegia. (2995595)
1985
39
A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia. (6308177)
1983
40
Chronic progressive external ophthalmoplegia (CPEO): clinical, morphologic, and biochemical studies. (6300733)
1983
41
Electroencephalographic findings in patients with chronic progressive external ophthalmoplegia. (6674247)
1983
42
Orbicularis oculi muscle in chronic progressive external ophthalmoplegia. (7387511)
1980
43
Chronic progressive external ophthalmoplegia with severe cardiac dysrhythmia: the value of early recognition and cardiac pacing. (863678)
1977
44
Chronic progressive external ophthalmoplegia. (1182488)
1975
45
Chronic progressive external ophthalmoplegia. (4463559)
1974
46
Pigmentary retinopathy in cases of chronic progressive external ophthalmoplegia. Visual sensory aspects. (4541520)
1972
47
Chronic progressive external ophthalmoplegia and pigmentary degeneration of the retina. (5579163)
1971
48
CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA AND MUSCULARDYSTROPHY. (14059919)
1963
49
Chronic progressive external ophthalmoplegia; a clinical and neuropathologic report. (13179195)
1953
50
Chronic progressive external ophthalmoplegia: a clinical and neuropathologic report. (13064909)
1953

Genetic Variations for Chronic Progressive External Ophthalmoplegia

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Expression for genes affiliated with Chronic Progressive External Ophthalmoplegia

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1BioGPS, 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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53Reactome, 29KEGG, 51QIAGEN, 12EMD Millipore, 37NCBI BioSystems Database
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Pathways related to Chronic Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.7MT-TL2, MT-TI, MT-TK, MT-TA
2
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9.7DGUOK, TYMP, RRM2B
3
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9.5POLE, POLA1
49.5POLG, POLD1, POLE
5
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9.2POLE, LDLR, POLG, POLD1
69.2POLD1, POLE, POLA1
7
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9.2POLA1, POLE, POLD1
8
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9.2POLA1, POLE, POLD1
9
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9.2POLE, POLA1, POLD1
10
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9.2POLA1, POLD1, POLE
119.1POLA1, POLD1, POLG, RRM2B
12
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8.4DGUOK, RRM2B, TYMP, POLE, POLD1, POLA1
13
Hide members
7.1POLE, COX5A, DGUOK, PIK3C2A, POLG, POLA1

Compounds for genes affiliated with Chronic Progressive External Ophthalmoplegia

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44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB, 28IUPHAR
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Compounds related to Chronic Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1cidofovir44 1111.0POLG, TYMP
2abacavir44 49 1112.0POLG2, POLG
3deoxyguanosine44 2410.9DGUOK, POLG, TYMP
4clofarabine44 1110.8DGUOK, POLA1
5nelarabine44 1110.8POLA1, DGUOK
6didanosine44 1110.8POLG, COX5A, DGUOK
7diethyl dithiocarbamate449.8POLG, POLG2, COX5A
8nevirapine44 49 1111.7COX5A, POLG
9dttp449.7POLG, TYMP
10Cladribine119.7POLA1, RRM2B, POLE
11nucleoside449.6DGUOK, POLG, POLG2, TYMP
12zidovudine44 1110.5TYMP, POLG2, POLG, COX5A
13thromboxane44 2410.3TYMP, COX5A, PIK3C2A
14thymidylate449.3TYMP, POLG, DGUOK
15datp28 2410.2POLA1, POLD1, POLG, POLE
16thromboxane a244 2410.2TYMP, PIK3C2A, COX5A
17prostacyclin449.1COX5A, PIK3C2A, TYMP, LDLR
18phosphoric acid44 2410.1POLE, POLG, POLD1, POLA1
19dctp44 2410.0POLG, DGUOK, POLA1, POLE, POLD1
20dgtp44 2410.0POLG, DGUOK, POLE, POLD1, POLA1
21pyrophosphate44 249.7POLA1, PIK3C2A, POLG, POLE, POLD1
22oxygen44 249.5PIK3C2A, COX5A, POLG, TYMP, RRM2B, SLC25A4
23atp44 289.4DGUOK, POLG, POLG2, TYMP, COX5A, SLC25A4

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:0426459.7POLG2, POLG, C10orf2

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1mitochondrial DNA replicationGO:00626410.1RRM2B, POLG, C10orf2
2DNA-dependent DNA replicationGO:00626110.0POLG, POLG2
3mitochondrial genome maintenanceGO:0000029.9SLC25A4, TYMP
4base-excision repair, gap-fillingGO:0062879.8POLD1, POLE, POLG
5nucleobase-containing small molecule metabolic processGO:0550869.6RRM2B, TYMP, DGUOK
6S phase of mitotic cell cycleGO:0000849.5POLD1, POLA1
7DNA synthesis involved in DNA repairGO:0007319.4POLE, POLA1, POLD1
8nucleotide-excision repair, DNA gap fillingGO:0062979.4POLD1, POLA1, POLE
9telomere maintenance via semi-conservative replicationGO:0322019.4POLE, POLA1, POLD1
10telomere maintenance via recombinationGO:0007229.4POLD1, POLE, POLA1
11telomere maintenanceGO:0007239.3POLD1, POLE, POLA1
12translesion synthesisGO:0199859.2POLD1, POLA1
13DNA repairGO:0062818.9RRM2B, POLG2, POLD1, POLE, POLA1
14DNA replicationGO:0062608.9POLG2, POLA1, POLE, POLD1, TYMP
15small molecule metabolic processGO:0442817.8LDLR, COX5A, DGUOK, PIK3C2A, TYMP, POLD1

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

idNameGO IDScoreTop Affiliating Genes
13-5 exonuclease activityGO:0084089.5POLD1, POLA1
24 iron, 4 sulfur cluster bindingGO:0515399.1POLE, POLD1, POLA1
3DNA-directed DNA polymerase activityGO:0038878.7POLG2, POLG, POLD1, POLE, POLA1
4chromatin bindingGO:0036828.6POLG, POLA1, POLE, POLD1

Products for genes affiliated with Chronic Progressive External Ophthalmoplegia

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Sources for Chronic 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
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