PEO
MCID: CHR095
MIFTS: 50

Chronic Progressive External Ophthalmoplegia (PEO) malady

Summaries for Chronic Progressive External Ophthalmoplegia

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42NIH Rare Diseases, 21Genetics Home Reference, 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, 21Genetics Home Reference, 10DISEASES, 60UMLS, 20GeneTests, 22GTR, 44Novoseek, 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
Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients. (23719791)
2013
2
Sleep disturbances in chronic progressive external ophthalmoplegia. (21819490)
2012
3
Diagnostic investigations of patients with chronic progressive external ophthalmoplegia. (23024221)
2012
4
Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia. (21292040)
2011
5
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of mitochondrial DNA deletion in chronic progressive external ophthalmoplegia (CPEO). (22166510)
2011
6
A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia. (20884012)
2011
7
Esophageal contractions in patients with chronic progressive external ophthalmoplegia. (21399928)
2011
8
Chronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient. (21249588)
2011
9
Disease impact in chronic progressive external ophthalmoplegia: more than meets the eye. (21236670)
2011
10
Morphological findings of extraocular myopathy with chronic progressive external ophthalmoplegia. (20192704)
2010
11
The management of strabismus in patients with chronic progressive external ophthalmoplegia. (20521878)
2010
12
An autopsy case of chronic progressive external ophthalmoplegia with renal insufficiency. (19107614)
2008
13
Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia. (18384291)
2008
14
Update on chronic progressive external ophthalmoplegia. (16251143)
2005
15
Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber's hereditary optic neuropathy. (15965159)
2005
16
Ocular motility findings in chronic progressive external ophthalmoplegia. (15272295)
2005
17
Sensorineural hearing loss in patients with chronic progressive external ophthalmoplegia or Kearns-Sayre syndrome. (15827867)
2005
18
Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. (12690061)
2003
19
Chronic asymmetric progressive external ophthalmoplegia with right facial weakness: a unique presentation of mitochondrial myopathy. (12082069)
2002
20
Chronic progressive external ophthalmoplegia. (12169221)
2002
21
Near-infrared spectroscopy in chronic progressive external ophthalmoplegia: adipose tissue thickness confounds decreased muscle oxygen consumption. (11835388)
2002
22
The evaluation of chronic progressive external ophthalmoplegia with computerized tomography. (11998886)
2001
23
A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia. (9808249)
1998
24
Pregnancy in chronic progressive external ophthalmoplegia: a case report. (9259947)
1997
25
Are mitochondrial DNA deletions causative in chronic progressive external ophthalmoplegia patients? (18638949)
1997
26
Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome-c oxidase subunits in chronic progressive external ophthalmoplegia. (8611660)
1996
27
Laser-excited fluorescence studies of mitochondrial function in saponin-skinned skeletal muscle fibers of patients with chronic progressive external ophthalmoplegia. (8541350)
1995
28
Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene. (7980504)
1994
29
Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO) (7525879)
1994
30
Histological, enzymatic and mitochondrial DNA studies in patients with Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia. (1646110)
1991
31
Functional respiratory chain studies in subjects with chronic progressive external ophthalmoplegia and large heteroplasmic mitochondrial DNA deletions. (1677417)
1991
32
Chronic progressive external ophthalmoplegia in patients with large heteroplasmic mitochondrial DNA deletions: an immunocytochemical study. (1656694)
1991
33
Neuro-ophthalmologic manifestations of mitochondrial DNA disorders: chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, and Leber's hereditary optic neuropathy. (2011107)
1991
34
Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia. (2515390)
1989
35
Chronic progressive external ophthalmoplegia. (2486116)
1989
36
Morphometric and biochemical study of muscle mitochondria in adult chronic progressive external ophthalmoplegia. (2846963)
1988
37
Skeletal muscle pathology in chronic progressive external ophthalmoplegia with ragged-red fibers. (2849280)
1988
38
Chronic progressive external ophthalmoplegia. II. A qualitative and quantitative electronmicroscopy study of skeletal muscles. (3202712)
1988
39
Treatment of ptosis in chronic progressive external ophthalmoplegia. (3580341)
1987
40
Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO). (4058877)
1985
41
Chronic progressive external ophthalmoplegia. Clinical, electrophysiological, histochemical and ultrastructural studies of 14 cases. (6298931)
1982
42
Extraocular muscle biopsy in chronic progressive external ophthalmoplegia. (554523)
1979
43
Case reports of two variants of chronic progressive external ophthalmoplegia. (298726)
1979
44
Third degree atrioventricular block, chronic progressive external ophthalmoplegia and pigmentary degeneration of retina. Case report and survey of the literature. (626112)
1978
45
Chronic progressive external ophthalmoplegia. (729157)
1978
46
Chronic progressive external ophthalmoplegia, pigmentary retinopathy, and heart block (Kearns-Sayre syndrome). Report of a case. (1242281)
1975
47
Chronic progressive external ophthalmoplegia: association with retinal pigmentary changes and evidence in favor of ocular myopathy. (5045490)
1972
48
Chronic progressive external ophthalmoplegia. A critical review. (4901421)
1969
49
Chronic progressive external ophthalmoplegia; report of a case with histopathologic examination of external eye muscle and skeletal muscle. (13616782)
1959
50
Chronic progressive external ophthalmoplegia. (15397506)
1949

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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9.7RRM2B, TYMP, DGUOK
3
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9.5POLE, POLA1
49.5POLG, POLE, POLD1
5
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9.2POLG, POLE, POLD1, LDLR
69.2POLD1, POLE, POLA1
7
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9.2POLD1, POLE, POLA1
8
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9.2POLD1, POLE, POLA1
9
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9.2POLA1, POLE, POLD1
10
Hide members
9.2POLA1, POLE, POLD1
119.1RRM2B, POLD1, POLA1, POLG
12
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8.4DGUOK, POLA1, POLE, POLD1, TYMP, RRM2B
13
Hide members
7.1COX5A, DGUOK, PIK3C2A, POLG, POLG2, 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 1111.0TYMP, POLG
2abacavir44 49 1112.0POLG2, POLG
3deoxyguanosine44 2410.9DGUOK, POLG, TYMP
4clofarabine44 1110.8DGUOK, POLA1
5nelarabine44 1110.8DGUOK, POLA1
6didanosine44 1110.8COX5A, DGUOK, POLG
7diethyl dithiocarbamate449.8POLG2, POLG, COX5A
8nevirapine44 49 1111.7POLG, COX5A
9dttp449.7TYMP, POLG
10Cladribine119.7RRM2B, POLE, POLA1
11nucleoside449.6DGUOK, POLG, POLG2, TYMP
12zidovudine44 1110.5TYMP, POLG2, POLG, COX5A
13thromboxane44 2410.3TYMP, PIK3C2A, COX5A
14thymidylate449.3DGUOK, POLG, TYMP
15datp28 2410.2POLG, POLA1, POLE, POLD1
16thromboxane a244 2410.2COX5A, PIK3C2A, TYMP
17prostacyclin449.1COX5A, PIK3C2A, TYMP, LDLR
18phosphoric acid44 2410.1POLG, POLA1, POLE, POLD1
19dctp44 2410.0POLD1, POLE, POLA1, POLG, DGUOK
20dgtp44 2410.0DGUOK, POLG, POLA1, POLE, POLD1
21pyrophosphate44 249.7PIK3C2A, POLG, POLA1, POLE, POLD1
22oxygen44 249.5SLC25A4, RRM2B, TYMP, POLG, PIK3C2A, COX5A
23atp44 289.4COX5A, DGUOK, PIK3C2A, POLG, POLG2, TYMP

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

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:0515399.1POLA1, POLE, POLD1
3DNA-directed DNA polymerase activityGO:0038878.7POLD1, POLE, POLA1, POLG2, POLG
4chromatin bindingGO:0036828.6POLD1, POLE, POLA1, POLG

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
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51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
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