MCID: CHR095
MIFTS: 48

Chronic Progressive External Ophthalmoplegia malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases, Metabolic diseases categories

Summaries for Chronic Progressive External Ophthalmoplegia

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NIH Rare Diseases:41 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 based summary: 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 MT-TL2 (mitochondrially encoded tRNA leucine 2 (CUN)), 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.

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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Sources:
9Disease Ontology, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 60UMLS, 20GeneTests, 43Novoseek, 22GTR, 47Orphanet, 55SNOMED-CT, 33MeSH, 27ICD9CM, 26ICD10 via Orphanet, 25ICD10
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Chronic Progressive External Ophthalmoplegia, Aliases & Descriptions:

Name: Chronic Progressive External Ophthalmoplegia 9 41 21 11 60
Progressive External Ophthalmoplegia 9 41 20 21 43 22
Maternally-Inherited Chronic Progressive External Ophthalmoplegia 41 47
Maternally-Inherited Progressive External Ophthalmoplegia 41 47
 
Maternally-Inherited Cpeo 41 47
Cpeo 41 21
Peo 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
maternally-inherited chronic progressive external ophthalmoplegia:
Inheritance: Mitochondrial inheritance,Not applicable; Age of onset: Adolescent,Adult; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:12558
MeSH33 D017246
ICD9CM27 378.72
Orphanet47 663
ICD10 via Orphanet26 H49.4
ICD1025 H49.4

Related Diseases for Chronic Progressive External Ophthalmoplegia

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Diseases in the Ophthalmoplegia family:

Progressive External Ophthalmoplegia, Autosomal Dominant, 3 Progressive External Ophthalmoplegia, Autosomal Recessive
Progressive External Ophthalmoplegia, Autosomal Dominant Total Internal Ophthalmoplegia
chronic progressive external ophthalmoplegia

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

(show top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1ophthalmoplegia32.4TYMP, SLC25A4
2kearns-sayre syndrome31.8COX5A
3myopathy31.0PIK3C2A, SDHB, POLG, COX5A
4neuropathy30.9PIK3C2A, C10orf2, POLG
5progressive external ophthalmoplegia, autosomal recessive10.7
6progressive external ophthalmoplegia, autosomal dominant10.7
7progressive external ophthalmoplegia with mitochondrial dna deletions 310.7
8progressive external ophthalmoplegia, autosomal dominant, 310.7
9progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 410.6
10ptosis10.6
11progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 510.6
12cerebellar ataxia infantile with progressive external ophthalmoplegia10.6
13progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 610.6
14strabismus10.5
15adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy10.5
16mitochondrial encephalomyopathy10.4POLG
17pigmentary retinopathy10.4
18hypogonadism10.4
19tremor10.4
20progressive external ophthalmoplegia - myopathy - emaciation10.4
21optic atrophy 110.3
22mitochondrial dna depletion syndrome 4b10.3
23mitochondrial dna depletion syndrome 1110.3
24mitochondrial dna depletion syndrome 110.3
25gaze palsy, horizontal, with progressive scoliosis10.3
26hereditary sensory neuropathy10.3
27keratopathy10.3
28motor neuron disease10.3
29pharyngitis10.3
30third-degree atrioventricular block10.3
31neuronitis10.3
32exophthalmos10.3
33sensorineural hearing loss10.3
34atrioventricular block10.3
35esophagitis10.3
36retinitis10.3
37ocular muscular dystrophy10.3
38ataxia10.3
39early myoclonic encephalopathy10.3COX5A, SDHB
40merrf syndrome10.2COX5A, MT-TK, SDHB
41mitochondrial neurogastrointestinal encephalopathy disease10.2TYMP, POLG
42leigh syndrome10.2COX5A, SDHB
43exotropia10.2
44combined oxidative phosphorylation deficiency 2010.2
45ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia10.2
46oculopharyngeal muscular dystrophy10.2
47optic atrophy plus syndrome10.2
48mitochondrial recessive ataxia syndrome10.2
49nemaline myopathy10.2
50muscular dystrophy10.2

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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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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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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MalaCards organs/tissues related to Chronic Progressive External Ophthalmoplegia:

31
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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Articles related to Chronic Progressive External Ophthalmoplegia:

(show top 50)    (show all 142)
idTitleAuthorsYear
1
Cardiac involvement in chronic progressive external ophthalmoplegia. (25139213)
2014
2
Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype. (25034047)
2014
3
Chronic progressive external ophthalmoplegia with inflammatory myopathy. (25674260)
2014
4
Paralytic exophthalmos in chronic progressive external ophthalmoplegia. (22504268)
2012
5
Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia. (21533826)
2011
6
A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle. (20810132)
2010
7
Morphological findings of extraocular myopathy with chronic progressive external ophthalmoplegia. (20192704)
2010
8
Chronic progressive external ophthalmoplegia with recurrent quadriparesis : an unusual presentation. (21045517)
2010
9
Cystoid macular edema in a patient with chronic progressive external ophthalmoplegia with mitochondrial myopathy. (19172512)
2009
10
Assessment of visual function in chronic progressive external ophthalmoplegia. (15920569)
2006
11
Chronic progressive external ophthalmoplegia: MR spectroscopy and MR diffusion studies in the brain. (16928952)
2006
12
Update on chronic progressive external ophthalmoplegia. (16251143)
2005
13
Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber's hereditary optic neuropathy. (15965159)
2005
14
Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. (12690061)
2003
15
The evaluation of chronic progressive external ophthalmoplegia with computerized tomography. (11998886)
2001
16
Congenital mitochondrial cytopathy and chronic progressive external ophthalmoplegia. (11511285)
2001
17
Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia. (11594340)
2001
18
A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia. (9808249)
1998
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
Chronic progressive external ophthalmoplegia. (9470333)
1997
22
Pregnancy in chronic progressive external ophthalmoplegia: a case report. (9259947)
1997
23
Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia. (8606699)
1996
24
Autosomal dominant chronic progressive external ophthalmoplegia: a tale of two genomes. (8957008)
1996
25
Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients. (7496174)
1995
26
Mitochondrial disease with chronic progressive external ophthalmoplegia: clinical analysis of 19 cases. (8167995)
1994
27
Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene. (7980504)
1994
28
Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia. (1542564)
1992
29
Histological, enzymatic and mitochondrial DNA studies in patients with Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia. (1646110)
1991
30
Neurogenic muscle weakness in chronic progressive external ophthalmoplegia (CPEO) (2266992)
1990
31
Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. (1965208)
1990
32
Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia. (2515390)
1989
33
Chronic progressive external ophthalmoplegia. (2486116)
1989
34
Chronic progressive external ophthalmoplegia. I. A quantitative histochemical study of skeletal muscles. (3202711)
1988
35
Treatment of ptosis in chronic progressive external ophthalmoplegia. (3580341)
1987
36
Single fiber electromyography in chronic progressive external ophthalmoplegia. (3587264)
1987
37
Partial cytochrome oxidase (aa3) deficiency in chronic progressive external ophthalmoplegia. Histochemical and biochemical studies. (2418159)
1985
38
Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO). (4058877)
1985
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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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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Compounds for genes affiliated with Chronic Progressive External Ophthalmoplegia

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Compounds related to Chronic Progressive External Ophthalmoplegia according to GeneCards Suite gene sharing:

(show all 31)
idCompoundScoreTop Affiliating Genes
1abacavir49 43 1212.1POLG2, POLG
2mibg439.9SDHB, PIK3C2A
3cidofovir43 1210.9TYMP, POLG
4dttp439.9TYMP, POLG
5deoxyguanosine43 2410.8TYMP, POLG
6lamivudine43 49 1211.7POLG2, POLG
7gemfibrozil28 43 1211.6LDLR, PIK3C2A
8nucleoside439.6POLG2, POLG, TYMP
9didanosine43 49 1211.5COX5A, POLG
10nevirapine43 49 1211.5COX5A, POLG
11diethyl dithiocarbamate439.3COX5A, POLG2, POLG
12phosphocreatine43 2410.2PIK3C2A, COX5A
13ethidium bromide439.1COX5A, POLG
14steroidal439.1TYMP, COX5A
15cyclosporin a43 28 5911.1SLC25A4, LDLR, SDHB, PIK3C2A
16citrate439.1COX5A, SDHB, PIK3C2A
17pyruvate439.0PIK3C2A, SDHB, COX5A
18thromboxane43 2410.0COX5A, TYMP, PIK3C2A
19thromboxane a243 2410.0COX5A, TYMP, PIK3C2A
20iron43 249.9PIK3C2A, SDHB, RRM2B, COX5A
21aspirin43 49 28 2411.9COX5A, LDLR, TYMP
22crcs438.8TYMP, COX5A
23zidovudine43 49 1210.8COX5A, POLG2, POLG, TYMP
24methotrexate49 43 1210.8PIK3C2A, TYMP, COX5A
25ascorbic acid43 249.7PIK3C2A, SDHB, LDLR, COX5A
26lactate438.6PIK3C2A, SDHB, POLG, COX5A
27fatty acid438.6PIK3C2A, LDLR, COX5A, SLC25A4
28prostacyclin438.5PIK3C2A, TYMP, LDLR, COX5A
29creatinine438.3PIK3C2A, TYMP, SDHB, COX5A, SLC25A4
30oxygen43 248.6PIK3C2A, TYMP, SDHB, RRM2B, POLG, COX5A
31atp43 288.5PIK3C2A, TYMP, SDHB, POLG, POLG2, COX5A

GO Terms for genes affiliated with Chronic Progressive External Ophthalmoplegia

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Cellular components related to Chronic Progressive External Ophthalmoplegia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:00426459.1POLG2, POLG, C10orf2
2mitochondrial inner membraneGO:00057438.5SLC25A4, COX5A, POLG, SDHB

Biological processes related to Chronic Progressive External Ophthalmoplegia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA-dependent DNA replicationGO:00062619.7POLG2, POLG
2mitochondrial DNA replicationGO:00062649.5POLG, RRM2B, C10orf2
3mitochondrial genome maintenanceGO:00000029.3SLC25A4, TYMP
4small molecule metabolic processGO:00442817.1PIK3C2A, TYMP, SDHB, RRM2B, LDLR, COX5A

Molecular functions related to Chronic Progressive External Ophthalmoplegia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA-directed DNA polymerase activityGO:00038879.7POLG2, POLG

Products for genes affiliated with Chronic Progressive External Ophthalmoplegia

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Sources for Chronic Progressive External Ophthalmoplegia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet