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
Chronic progressive external ophthalmoplegia coexistent with motor neuron disease in a patient with a novel large-scale mitochondrial DNA deletion. (23266267)
2013
2
Paralytic exophthalmos in chronic progressive external ophthalmoplegia. (22504268)
2012
3
Diagnostic investigations of patients with chronic progressive external ophthalmoplegia. (23024221)
2012
4
Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia. (21533826)
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
A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle. (20810132)
2010
8
Morphological findings of extraocular myopathy with chronic progressive external ophthalmoplegia. (20192704)
2010
9
Molecular analysis in a family presenting with a mild form of late- onset autosomal dominant chronic progressive external ophthalmoplegia. (19428252)
2009
10
An autopsy case of chronic progressive external ophthalmoplegia with renal insufficiency. (19107614)
2008
11
Chronic progressive external ophthalmoplegia: MR spectroscopy and MR diffusion studies in the brain. (16928952)
2006
12
Surgical treatment of blepharoptosis caused by chronic progressive external ophthalmoplegia. (16557081)
2006
13
Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia. (16639504)
2006
14
Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber's hereditary optic neuropathy. (15965159)
2005
15
A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia. (15649400)
2005
16
Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. (12690061)
2003
17
Chronic progressive external ophthalmoplegia. (12169221)
2002
18
The evaluation of chronic progressive external ophthalmoplegia with computerized tomography. (11998886)
2001
19
Congenital mitochondrial cytopathy and chronic progressive external ophthalmoplegia. (11511285)
2001
20
Chronic exposure keratopathy complicating surgical correction of ptosis in patients with chronic progressive external ophthalmoplegia. (11024427)
2000
21
Ultrastructural analysis of extraocular muscle in chronic progressive external ophthalmoplegia. (11030833)
2000
22
Chronic progressive external ophthalmoplegia. (9470333)
1997
23
Are mitochondrial DNA deletions causative in chronic progressive external ophthalmoplegia patients? (18638949)
1997
24
Autosomal dominant chronic progressive external ophthalmoplegia: a tale of two genomes. (8957008)
1996
25
Oxygraphic evaluation of mitochondrial function in digitonin-permeabilized mononuclear cells and cultured skin fibroblasts of patients with chronic progressive external ophthalmoplegia. (8581354)
1995
26
Fine mapping of randomly distributed multiple deletions of mitochondrial DNA in a case of chronic progressive external ophthalmoplegia. (7477015)
1995
27
Central and peripheral nervous system conduction in mitochondrial myopathy with chronic progressive external ophthalmoplegia. (7512912)
1994
28
Chronic progressive external ophthalmoplegia: a correlative study of quantitative molecular data and histochemical and biochemical profile. (8064307)
1994
29
Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO) (7525879)
1994
30
Vascular pathology in chronic progressive external ophthalmoplegia with ragged-red fibers]. (1611773)
1992
31
Chronic progressive external ophthalmoplegia. I. A quantitative histochemical study of skeletal muscles. (3202711)
1988
32
Skeletal muscle pathology in chronic progressive external ophthalmoplegia with ragged-red fibers. (2849280)
1988
33
Chronic progressive external ophthalmoplegia. II. A qualitative and quantitative electronmicroscopy study of skeletal muscles. (3202712)
1988
34
Treatment of ptosis in chronic progressive external ophthalmoplegia. (3580341)
1987
35
Single fiber electromyography in chronic progressive external ophthalmoplegia. (3587264)
1987
36
Management of ptosis in chronic progressive external ophthalmoplegia. (3154593)
1987
37
Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO). (4058877)
1985
38
ERG and VECP in chronic progressive external ophthalmoplegia (CPEO). (4064883)
1985
39
Chronic progressive external ophthalmoplegia. Clinical, electrophysiological, histochemical and ultrastructural studies of 14 cases. (6298931)
1982
40
The cardiac involvement in chronic progressive external ophthalmoplegia: consideration on the Kearns-Sayre syndrome. (6910351)
1981
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 in a heredo-ataxia: neurogenic or myogenic? A clinical, neuropathological and submicroscopic study. (605773)
1977
44
Cardiac abnormalities in chronic progressive external ophthalmoplegia. (131570)
1976
45
Chronic progressive external ophthalmoplegia. A review and case report. (5979364)
1966
46
Spongiform encephalopathy with chronic progressive external ophthalmoplegia. Central ophthalmoplegia mimicking ocular myopathy. (5948507)
1966
47
Chronic progressive external ophthalmoplegia. (13123569)
1954
48
Chronic progressive external ophthalmoplegia. (13059273)
1953
49
Chronic progressive external ophthalmoplegia. (15397506)
1949
50
Chronic Progressive External Ophthalmoplegia: Report of a Case with Necropsy. (16692796)
1928

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
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9.2POLA1, POLE, POLD1
119.1RRM2B, POLD1, POLA1, POLG
12
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8.4DGUOK, POLA1, POLE, POLD1, TYMP, RRM2B
13
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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
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36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
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57SNOMED-CT via Orphanet
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