PEO
MCID: CHR095
MIFTS: 46

Chronic Progressive External Ophthalmoplegia (PEO) malady

Summaries for Chronic Progressive External Ophthalmoplegia

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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 kearns-sayre syndrome and mitochondrial disorders. 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.

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:64 Chronic progressive external ophthalmoplegia (CPEO), also known as progressive external ophthalmoplegia... more...

Aliases & Classifications for Chronic Progressive External Ophthalmoplegia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 61UMLS, 20GeneTests, 22GTR, 45Novoseek, 57SNOMED-CT, 35MeSH, 27ICD9CM
See all sources

Aliases & Descriptions:

chronic progressive external ophthalmoplegia 8 43 21 10 61
progressive external ophthalmoplegia 8 43 20 22 21 45
cpeo 43 21
peo 21


External Ids:

Disease Ontology8 DOID:12558
MeSH35 D017246
ICD9CM27 378.72

Related Diseases for Chronic Progressive External Ophthalmoplegia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Chronic Progressive External Ophthalmoplegia family:

total internal ophthalmoplegia ophthalmoplegia
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5
progressive external ophthalmoplegia with mitochondrial dna deletions 3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6
adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

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

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1kearns-sayre syndrome31.0COX5A
2mitochondrial disorders30.3DGUOK, SUCLA2
3autosomal recessive progressive external ophthalmoplegia10.7
4say syndrome10.7
5cerebellar ataxia infantile with progressive external ophthalmoplegia10.5
6progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 410.5
7progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 510.5
8leber hereditary optic neuropathy10.5
9strabismus10.5
10autosomal dominant progressive external ophthalmoplegia10.5
11maternally-inherited progressive external ophthalmoplegia10.5
12adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy10.5
13progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 310.5
14progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 210.5
15progressive external ophthalmoplegia with mitochondrial dna deletions 310.5
16progressive external ophthalmoplegia, autosomal dominant, 310.5
17pigmentary retinopathy10.4
18tremor10.4
19progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 610.4
20mitochondrial dna depletion syndrome 1110.3
21atrioventricular block10.2
22sensorineural hearing loss10.2
23cystoid macular edema10.2
24exophthalmos10.2
25wolfram syndrome10.2
26n syndrome10.2
27familial hypercholesterolemia10.2
28dominant optic atrophy10.2
29ocular muscular dystrophy10.2
30hypercholesterolemia10.2
31ataxia10.2
32ophthalmoplegia - myalgia - tubular aggregates10.2
33nemaline myopathy10.2
34melas syndrome10.2
35conduct disorder10.2
36oculopharyngeal muscular dystrophy10.2
37autosomal dominant disease10.2
38autosomal genetic disease10.2
39hereditary ataxia10.2
40opa3-related 3-methylglutaconic aciduria10.2
41optic atrophy type 110.2
42rigid spine syndrome10.2
43encephalomyopathy10.2
44mental retardation10.2
45horizontal gaze palsy with progressive scoliosis10.2
46myoclonus10.2
47mitochondrial dna depletion syndrome 4b10.2
48mitochondrial dna depletion syndrome 110.2
49recessive mitochondrial ataxic syndrome10.2
50lactic acidosis10.0POLG

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

Drugs & Therapeutics for Chronic Progressive External Ophthalmoplegia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Animal Models for Chronic Progressive External Ophthalmoplegia or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Chronic Progressive External Ophthalmoplegia

Sources:
51PubMed
See all sources

Articles related to Chronic Progressive External Ophthalmoplegia:

(show top 50)    (show all 138)
idTitleAuthorsYear
1
Sleep disturbances in chronic progressive external ophthalmoplegia. (21819490)
2012
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
Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia. (21292040)
2011
4
Esophageal contractions in patients with chronic progressive external ophthalmoplegia. (21399928)
2011
5
Chronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient. (21249588)
2011
6
Disease impact in chronic progressive external ophthalmoplegia: more than meets the eye. (21236670)
2011
7
Chronic progressive external ophthalmoplegia with recurrent quadriparesis : an unusual presentation. (21045517)
2010
8
Eye movement recordings to investigate a supranuclear component in chronic progressive external ophthalmoplegia: a cross-sectional study. (20576783)
2010
9
The management of strabismus in patients with chronic progressive external ophthalmoplegia. (20521878)
2010
10
Dynamic properties of eye movements in mitochondrial chronic progressive external ophthalmoplegia. (17962819)
2009
11
Frontalis suspension sling using palmaris longus tendon in chronic progressive external ophthalmoplegia. (19300161)
2009
12
Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia. (18384291)
2008
13
Chronic progressive external ophthalmoplegia: a report of 6 cases and a review of the literature. (17215725)
2007
14
Tetracycline delays ocular motility decline in chronic progressive external ophthalmoplegia. (17404203)
2007
15
Orbital magnetic resonance imaging of extraocular muscles in chronic progressive external ophthalmoplegia: specific diagnostic findings. (17070475)
2006
16
Update on chronic progressive external ophthalmoplegia. (16251143)
2005
17
Ocular motility findings in chronic progressive external ophthalmoplegia. (15272295)
2005
18
Chronic asymmetric progressive external ophthalmoplegia with right facial weakness: a unique presentation of mitochondrial myopathy. (12082069)
2002
19
Near-infrared spectroscopy in chronic progressive external ophthalmoplegia: adipose tissue thickness confounds decreased muscle oxygen consumption. (11835388)
2002
20
Impaired glucose effectiveness in chronic progressive external ophthalmoplegia. (12037739)
2002
21
Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia. (11594340)
2001
22
A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia. (9808249)
1998
23
Mitochondrial gene defect in patients with chronic progressive external ophthalmoplegia. (11245066)
1998
24
Brain metabolic profiles obtained by proton MRS in two forms of mitochondriopathies: Leber's hereditary optic neuropathy and chronic progressive external ophthalmoplegia. (9693232)
1998
25
Pregnancy in chronic progressive external ophthalmoplegia: a case report. (9259947)
1997
26
Strabismus and mitochondrial defects in chronic progressive external ophthalmoplegia. (9186130)
1997
27
Cardiac dysfunction in patients with chronic progressive external ophthalmoplegia. (9068909)
1997
28
Laser-excited fluorescence studies of mitochondrial function in saponin-skinned skeletal muscle fibers of patients with chronic progressive external ophthalmoplegia. (8541350)
1995
29
Mitochondrial disease with chronic progressive external ophthalmoplegia: clinical analysis of 19 cases. (8167995)
1994
30
Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene. (7980504)
1994
31
"All-or-none" cytochrome c oxidase positivity in mitochondria in chronic progressive external ophthalmoplegia: an ultrastructural--cytochemical study. (8381519)
1993
32
Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia. (1542564)
1992
33
Functional respiratory chain studies in subjects with chronic progressive external ophthalmoplegia and large heteroplasmic mitochondrial DNA deletions. (1677417)
1991
34
Neuro-ophthalmologic manifestations of mitochondrial DNA disorders: chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, and Leber's hereditary optic neuropathy. (2011107)
1991
35
Neurogenic muscle weakness in chronic progressive external ophthalmoplegia (CPEO) (2266992)
1990
36
Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia. (2515390)
1989
37
Chronic progressive external ophthalmoplegia. (2486116)
1989
38
Partial cytochrome oxidase (aa3) deficiency in chronic progressive external ophthalmoplegia. Histochemical and biochemical studies. (2418159)
1985
39
Partial cytochrome oxidase deficiency without subsarcolemmal accumulation of mitochondria in chronic progressive external ophthalmoplegia. (2995595)
1985
40
A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia. (6308177)
1983
41
Chronic progressive external ophthalmoplegia (CPEO): clinical, morphologic, and biochemical studies. (6300733)
1983
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
Chronic progressive external ophthalmoplegia, pigmentary retinopathy, and heart block (Kearns-Sayre syndrome). Report of a case. (1242281)
1975
45
Chronic progressive external ophthalmoplegia: association with retinal pigmentary changes and evidence in favor of ocular myopathy. (5045490)
1972
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; report of a case with histopathologic examination of external eye muscle and skeletal muscle. (13616782)
1959
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

Expression for genes affiliated with Chronic Progressive External Ophthalmoplegia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 52QIAGEN, 12EMD Millipore, 38NCBI BioSystems Database
See all sources

Pathways related to Chronic Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

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

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB, 29IUPHAR
See all sources

Compounds related to Chronic Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1cidofovir45 1111.0POLG, TYMP
2abacavir45 50 1112.0POLG2, POLG
3deoxyguanosine45 2410.9DGUOK, POLG, TYMP
4clofarabine45 1110.8DGUOK, POLA1
5nelarabine45 1110.8POLA1, DGUOK
6didanosine45 1110.8POLG, COX5A, DGUOK
7diethyl dithiocarbamate459.8POLG, POLG2, COX5A
8nevirapine45 50 1111.7COX5A, POLG
9dttp459.7POLG, TYMP
10Cladribine119.7POLA1, RRM2B, POLE
11nucleoside459.6DGUOK, POLG, POLG2, TYMP
12zidovudine45 1110.5TYMP, POLG2, POLG, COX5A
13thromboxane45 2410.3TYMP, COX5A, PIK3C2A
14thymidylate459.3TYMP, POLG, DGUOK
15datp29 2410.2POLA1, POLD1, POLG, POLE
16thromboxane a245 2410.2TYMP, PIK3C2A, COX5A
17prostacyclin459.1COX5A, PIK3C2A, TYMP, LDLR
18phosphoric acid45 2410.1POLE, POLG, POLD1, POLA1
19dctp45 2410.0POLG, DGUOK, POLA1, POLE, POLD1
20dgtp45 2410.0POLG, DGUOK, POLE, POLD1, POLA1
21pyrophosphate45 249.7POLA1, PIK3C2A, POLG, POLE, POLD1
22oxygen45 249.5PIK3C2A, COX5A, POLG, TYMP, RRM2B, SLC25A4
23atp45 299.4DGUOK, POLG, POLG2, TYMP, COX5A, SLC25A4

GO Terms for genes affiliated with Chronic Progressive External Ophthalmoplegia

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chronic Progressive External Ophthalmoplegia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet