PEO
MCID: CHR095
MIFTS: 55

Chronic Progressive External Ophthalmoplegia (PEO) malady

Genetic diseases, Rare diseases, Muscle diseases, Eye diseases, Neuronal diseases categories

Summaries for Chronic Progressive External Ophthalmoplegia

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44NIH Rare Diseases, 22Genetics Home Reference, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 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 conditionsĀ 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:22 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:66 Chronic progressive external ophthalmoplegia (CPEO), also known as progressive external ophthalmoplegia... more...

Aliases & Classifications for Chronic Progressive External Ophthalmoplegia

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9Disease Ontology, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 36MeSH, 59SNOMED-CT, 28ICD9CM
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Classifications:



Aliases & Descriptions:

chronic progressive external ophthalmoplegia 9 44 22 11 63
progressive external ophthalmoplegia 9 44 21 23 22 46
cpeo 44 22
peo 22


External Ids:

Disease Ontology9 DOID:12558
MeSH36 D017246
ICD9CM28 378.72

Related Diseases for Chronic Progressive External Ophthalmoplegia

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Chronic Progressive External Ophthalmoplegia

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Genetic Tests for Chronic Progressive External Ophthalmoplegia

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21GeneTests, 23GTR
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Genetic tests related to Chronic Progressive External Ophthalmoplegia:

id Genetic test Affiliating Genes
1 Progressive External Ophthalmoplegia21 23

Anatomical Context for Chronic Progressive External Ophthalmoplegia

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34MalaCards
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MalaCards organs/tissues related to Chronic Progressive External Ophthalmoplegia:

34
Eye, Skeletal muscle, Retina, Brain, Skin, Heart

Animal Models for Chronic Progressive External Ophthalmoplegia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Chronic Progressive External Ophthalmoplegia:

38
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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53PubMed
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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, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chronic Progressive External Ophthalmoplegia

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Pathways for genes affiliated with Chronic Progressive External Ophthalmoplegia

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51PathCards, 39NCBI BioSystems Database, 61Thomson Reuters, 56Reactome, 31KEGG
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Compounds for genes affiliated with Chronic Progressive External Ophthalmoplegia

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52PharmGKB, 46Novoseek, 12DrugBank, 25HMDB, 30IUPHAR, 62Tocris Bioscience
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Compounds related to Chronic Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1abacavir52 46 1212.1POLG, POLG2
2mibg469.9SDHB, PIK3C2A
3cidofovir46 1210.9POLG, TYMP
4lamivudine46 52 1211.9POLG2, POLG
5dttp469.9TYMP, POLG
6deoxyguanosine46 2510.9TYMP, POLG
7gemfibrozil30 46 1211.7LDLR, PIK3C2A
8nucleoside469.6POLG2, POLG, TYMP
9didanosine46 52 1211.6COX5A, POLG
10nevirapine46 52 1211.5COX5A, POLG
11ethidium bromide469.4POLG, COX5A
12phosphocreatine46 2510.4COX5A, PIK3C2A
13diethyl dithiocarbamate469.3POLG, POLG2, COX5A
14cardiolipin46 1210.3SLC25A4, COX5A
15crcs469.2TYMP, COX5A
16steroidal469.2TYMP, COX5A
17bezafibrate46 30 1211.2LDLR, PIK3C2A
18cyclosporin a46 30 6211.1SLC25A4, LDLR, SDHB, PIK3C2A
19citrate469.1PIK3C2A, SDHB, COX5A
20pyruvate469.1COX5A, SDHB, PIK3C2A
21thromboxane46 2510.0COX5A, TYMP, PIK3C2A
22thromboxane a246 2510.0COX5A, TYMP, PIK3C2A
23aspirin46 52 30 2512.0TYMP, LDLR, COX5A
24iron46 259.9COX5A, RRM2B, SDHB, PIK3C2A
25methotrexate52 46 1210.9COX5A, TYMP, PIK3C2A
26zidovudine46 52 1210.8COX5A, POLG2, POLG, TYMP
27ascorbic acid46 259.7PIK3C2A, SDHB, LDLR, COX5A
28lactate468.7COX5A, POLG, SDHB, PIK3C2A
29fatty acid468.7PIK3C2A, LDLR, COX5A, SLC25A4
30indomethacin46 30 62 1211.6TYMP, LDLR, COX5A
31prostacyclin468.6COX5A, LDLR, TYMP, PIK3C2A
32cholesterol46 30 25 1211.6PIK3C2A, SDHB, LDLR, COX5A
33creatinine468.3PIK3C2A, TYMP, SDHB, COX5A, SLC25A4
34vegf468.3COX5A, SDHB, TYMP, PIK3C2A
35lipid468.2PIK3C2A, SDHB, LDLR, COX5A, SLC25A4
36oxygen46 258.7SLC25A4, PIK3C2A, TYMP, SDHB, RRM2B, POLG
37atp46 308.6PIK3C2A, TYMP, SDHB, POLG, POLG2, COX5A

GO Terms for genes affiliated with Chronic Progressive External Ophthalmoplegia

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17Gene 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
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24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
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41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
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