PEO
MCID: CHR095
MIFTS: 44

Chronic Progressive External Ophthalmoplegia (PEO) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Muscle diseases, Metabolic diseases

Aliases & Classifications for Chronic Progressive External Ophthalmoplegia

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Aliases & Descriptions for Chronic Progressive External Ophthalmoplegia:

Name: Chronic Progressive External Ophthalmoplegia 11 48 24 25 13 68
Progressive External Ophthalmoplegia 11 48 24 25 27 50
Cpeo 48 24 25
 
Peo 24 25
Ophthalmoplegia, Chronic Progressive External 39

Classifications:



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Disease Ontology11 DOID:12558
ICD1030 H49.4
ICD9CM32 378.72
MeSH39 D017246

Summaries for Chronic Progressive External Ophthalmoplegia

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NIH Rare Diseases:48 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: 1/19/2017

MalaCards based summary: Chronic Progressive External Ophthalmoplegia, also known as progressive external ophthalmoplegia, is related to kearns-sayre syndrome and mitochondrial dna depletion syndrome 11, and has symptoms including ophthalmoplegia and ophthalmoplegia. An important gene associated with Chronic Progressive External Ophthalmoplegia is TWNK (Twinkle MtDNA Helicase), and among its related pathways is tRNA Aminoacylation. Affiliated tissues include eye, skeletal muscle and retina.

Genetics Home Reference:25 Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40 and slowly worsens over time. The first sign of progressive external ophthalmoplegia is typically drooping eyelids (ptosis), which can affect one or both eyelids. As ptosis worsens, affected individuals may use the forehead muscles to try to lift the eyelids, or they may lift up their chin in order to see. Another characteristic feature of progressive external ophthalmoplegia is weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals have to turn their head to see in different directions, especially as the ophthalmoplegia worsens. People with progressive external ophthalmoplegia may also have general weakness of the muscles used for movement (myopathy), particularly those 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:71 Chronic progressive external ophthalmoplegia (CPEO), also known as progressive external ophthalmoplegia... more...

Related Diseases for Chronic Progressive External Ophthalmoplegia

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Diseases in the Total Internal Ophthalmoplegia family:

Progressive External Ophthalmoplegia, Autosomal Recessive 1 Progressive External Ophthalmoplegia, Autosomal Dominant 1
chronic progressive external ophthalmoplegia Autosomal Dominant Progressive External Ophthalmoplegia

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

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1kearns-sayre syndrome11.9
2mitochondrial dna depletion syndrome 1111.4
3progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 211.3
4progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 311.3
5progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 411.3
6progressive external ophthalmoplegia, autosomal recessive 111.3
7progressive external ophthalmoplegia, autosomal dominant 111.3
8progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 211.1
9ocular muscular dystrophy11.1
10maternally-inherited progressive external ophthalmoplegia11.1
11ptosis10.2
12myopathy10.2
13combined pituitary hormone deficiency10.2POLG, TWNK
14peroxisome biogenesis disorders, zellweger syndrome spectrum10.1POLG, TWNK
15fanconi anemia, complementation group i10.1POLG, TWNK
163-m syndrome 110.1MT-TA, MT-TL2
17pellagra10.1MT-TK, TYMP
18nonsyndromic 46,xx testicular disorders of sex development10.1POLG, TYMP
19mucinous intrahepatic cholangiocarcinoma10.0MT-TK, POLG
20idiopathic dropped head syndrome10.0POLG, TYMP
21cocoon syndrome10.0SLC25A4, TWNK
22strabismus10.0
23neuropathy10.0
24multiple epiphyseal dysplasia with robin phenotype10.0MT-TI, MT-TK
25nerve fibre bundle defect10.0MT-TK, POLG
26pontocerebellar hypoplasia10.0POLG, TYMP
27megalencephalic leukoencephalopathy with subcortical cysts9.9MT-TK, POLG, TYMP
28myoclonic epilepsy associated with ragged-red fibers9.9MT-TK, POLG, TYMP
29growth hormone deficiency, isolated partial9.8MT-TK, POLG, TWNK, TYMP
30huntington disease9.8
31keratopathy9.8
32motor neuron disease9.8
33atrioventricular block9.8
34third-degree atrioventricular block9.8
35sensorineural hearing loss9.8
36esophagitis9.8
37pharyngitis9.8
38retinitis9.8
39neuronitis9.8
40exophthalmos9.8
41ataxia9.8
42encephalopathy9.8
43deafness, autosomal dominant 309.7POLG, POLG2, TYMP
44bjornstad syndrome9.7MT-TI, MT-TK, POLG, POLG2
45bbs2-related bardet-biedl syndrome9.6POLG, POLG2, SLC25A4, TWNK
46chronic lacrimal gland enlargement9.6MT-TK, POLG, SLC25A4, TWNK, TYMP
47mental retardation with spastic paraplegia9.5MT-TK, POLG, SLC25A4, SPG7, TWNK, TYMP
48nkx2-1-related disorders9.0MT-TA, MT-TK, MT-TL2, POLG, POLG2, SLC25A4
49dyscalculia8.6LDLR, MT-TA, MT-TI, MT-TK, MT-TL2, POLG

Graphical network of the top 20 diseases related to Chronic Progressive External Ophthalmoplegia:



Diseases related to chronic progressive external ophthalmoplegia

Symptoms & Phenotypes for Chronic Progressive External Ophthalmoplegia

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UMLS symptoms related to Chronic Progressive External Ophthalmoplegia:


ophthalmoplegia

Drugs & Therapeutics for Chronic Progressive External Ophthalmoplegia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Mitochondrial nt3243 A>G Mutation in TaiwanUnknown statusNCT02114554
2MRI Study - Chronic Progressive External OphthalmoplegiaCompletedNCT02161848
3Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial CytopathyCompletedNCT02385565
4Nutritional Assessment in Mitochondrial CytopathyCompletedNCT02375438
5Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated AnomaliesRecruitingNCT03059420
6Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
7Natural History of Pearson SyndromeEnrolling by invitationNCT02327364

Search NIH Clinical Center for Chronic Progressive External Ophthalmoplegia


Cochrane evidence based reviews: ophthalmoplegia, chronic progressive external

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 Ophthalmoplegia27 24

Anatomical Context for Chronic Progressive External Ophthalmoplegia

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MalaCards organs/tissues related to Chronic Progressive External Ophthalmoplegia:

36
Eye, Skeletal muscle, Retina, Skin, Brain, Heart

Publications for Chronic Progressive External Ophthalmoplegia

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Articles related to Chronic Progressive External Ophthalmoplegia:

(show top 50)    (show all 153)
idTitleAuthorsYear
1
Unilateral Ptosis and Homolateral Hemifacial Weakness in Chronic Progressive External Ophthalmoplegia. (28512510)
2017
2
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings. (28175988)
2017
3
Nerve excitability changes related to muscle weakness in chronic progressive external ophthalmoplegia. (28535487)
2017
4
Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia. (27470685)
2016
5
Chronic Progressive External Ophthalmoplegia in the Absence of Ptosis. (27111092)
2016
6
Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging. (26689116)
2016
7
Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion. (27113600)
2016
8
Late-Onset Development of Eyelid Ptosis in Chronic Progressive External Ophthalmoplegia: A 30-Year Follow-up. (27928383)
2016
9
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. (27014581)
2016
10
Vocal cord palsy in a case of chronic progressive external ophthalmoplegia. (26713034)
2015
11
Selected Case From the Arkadi M. Rywlin International Pathology Slide Series: Mitochondrial Myopathy Presenting With Chronic Progressive External Ophthalmoplegia (CPEO): A Case Report. (25299315)
2014
12
Pharyngeal transit in patients with chronic progressive external ophthalmoplegia. (25142449)
2014
13
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. (24727571)
2014
14
Cardiac involvement in chronic progressive external ophthalmoplegia. (25139213)
2014
15
Chronic progressive external ophthalmoplegia with inflammatory myopathy. (25674260)
2014
16
Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype. (25034047)
2014
17
Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia. (24086434)
2013
18
Chronic progressive external ophthalmoplegia coexistent with motor neuron disease in a patient with a novel large-scale mitochondrial DNA deletion. (23266267)
2013
19
Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients. (23719791)
2013
20
No association between mitochondrial tRNA(Val) T1658C mutation and chronic progressive external ophthalmoplegia (CPEO). (23815321)
2013
21
Diagnostic investigations of patients with chronic progressive external ophthalmoplegia. (23024221)
2012
22
Sleep disturbances in chronic progressive external ophthalmoplegia. (21819490)
2012
23
Paralytic exophthalmos in chronic progressive external ophthalmoplegia. (22504268)
2012
24
The mutations m.5628T>C and m.8348A>G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia. (22743145)
2012
25
Multisystem disorder in late-onset chronic progressive external ophthalmoplegia. (21156440)
2011
26
Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia. (21533826)
2011
27
Chronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient. (21249588)
2011
28
Esophageal contractions in patients with chronic progressive external ophthalmoplegia. (21399928)
2011
29
Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia. (21292040)
2011
30
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of mitochondrial DNA deletion in chronic progressive external ophthalmoplegia (CPEO). (22166510)
2011
31
A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia. (20884012)
2011
32
Disease impact in chronic progressive external ophthalmoplegia: more than meets the eye. (21236670)
2011
33
Eye movement recordings to investigate a supranuclear component in chronic progressive external ophthalmoplegia: a cross-sectional study. (20576783)
2010
34
A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO). (20149659)
2010
35
Morphological findings of extraocular myopathy with chronic progressive external ophthalmoplegia. (20192704)
2010
36
A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle. (20810132)
2010
37
Chronic progressive external ophthalmoplegia with recurrent quadriparesis : an unusual presentation. (21045517)
2010
38
The management of strabismus in patients with chronic progressive external ophthalmoplegia. (20521878)
2010
39
Dynamic properties of eye movements in mitochondrial chronic progressive external ophthalmoplegia. (17962819)
2009
40
Molecular analysis in a family presenting with a mild form of late- onset autosomal dominant chronic progressive external ophthalmoplegia. (19428252)
2009
41
Frontalis suspension sling using palmaris longus tendon in chronic progressive external ophthalmoplegia. (19300161)
2009
42
Cystoid macular edema in a patient with chronic progressive external ophthalmoplegia with mitochondrial myopathy. (19172512)
2009
43
Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia. (18384291)
2008
44
Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA. (18603265)
2008
45
Frontalis sling operation using silicone rod for the correction of ptosis in chronic progressive external ophthalmoplegia. (18786957)
2008
46
An autopsy case of chronic progressive external ophthalmoplegia with renal insufficiency. (19107614)
2008
47
Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle. (17965958)
2007
48
Tetracycline delays ocular motility decline in chronic progressive external ophthalmoplegia. (17404203)
2007
49
Chronic progressive external ophthalmoplegia: a report of 6 cases and a review of the literature. (17215725)
2007
50
Surgical treatment of blepharoptosis caused by chronic progressive external ophthalmoplegia. (16557081)
2006

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.3MT-TA, MT-TI, MT-TK, MT-TL2

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:004264510.3POLG, POLG2, TWNK
2mitochondrionGO:00057398.6POLG, POLG2, SLC25A4, SPG7, TWNK

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cellular response to glucose stimulusGO:007133310.5POLG, TWNK
2DNA biosynthetic processGO:007189710.4POLG, POLG2
3mitochondrial DNA replicationGO:000626410.4POLG, TWNK
4DNA-dependent DNA replicationGO:000626110.4POLG, POLG2
5mitochondrial genome maintenanceGO:000000210.2SLC25A4, TYMP
6DNA replicationGO:000626010.1POLG, POLG2, TWNK
7mitochondrion organizationGO:00070059.2POLG2, SPG7, TWNK

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

idNameGO IDScoreTop Affiliating Genes
1DNA-directed DNA polymerase activityGO:000388710.3POLG, POLG2
2protease bindingGO:00020209.4LDLR, POLG, TWNK

Sources for Chronic Progressive External Ophthalmoplegia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet