MCID: CHR095
MIFTS: 43

Chronic Progressive External Ophthalmoplegia

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

Aliases & Classifications for Chronic Progressive External Ophthalmoplegia

MalaCards integrated aliases for Chronic Progressive External Ophthalmoplegia:

Name: Chronic Progressive External Ophthalmoplegia 12 50 24 25 14 69
Progressive External Ophthalmoplegia 12 50 24 25 29 52
Cpeo 50 24 25
Peo 24 25
Chronic Progressive External Ophthalmoplegia [ambiguous] 12
Ophthalmoplegia, Chronic Progressive External 42

Classifications:



External Ids:

Disease Ontology 12 DOID:12558
ICD10 33 H49.4
ICD9CM 35 378.72
MeSH 42 D017246
UMLS 69 C0162674

Summaries for Chronic Progressive External Ophthalmoplegia

NIH Rare Diseases : 50 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 An important gene associated with Chronic Progressive External Ophthalmoplegia is TWNK (Twinkle MtDNA Helicase), and among its related pathways/superpathways is tRNA Aminoacylation. The drug Ubiquinone has been mentioned in the context of this disorder. 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 : 72 Chronic progressive external ophthalmoplegia (CPEO), also known as progressive external ophthalmoplegia... more...

Related Diseases for Chronic Progressive External Ophthalmoplegia

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)
id Related Disease Score Top Affiliating Genes
1 kearns-sayre syndrome 11.9
2 mitochondrial dna depletion syndrome 11 11.4
3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.1
4 progressive external ophthalmoplegia, autosomal recessive 1 11.1
5 progressive external ophthalmoplegia, autosomal dominant 1 11.1
6 maternally-inherited progressive external ophthalmoplegia 11.1
7 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 11.1
8 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.1
9 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 11.1
10 autosomal dominant optic atrophy plus syndrome 11.1
11 ptosis 10.2
12 myopathy 10.2
13 leukoencephalopathy, progressive, with ovarian failure 10.2 MT-TA MT-TL2
14 deafness, autosomal dominant 30 10.2 POLG TWNK
15 hereditary spastic paraplegia 10.2 SPG7 TWNK
16 11q22.2q22.3 microdeletion syndrome 10.2 POLG TYMP
17 megalencephalic leukoencephalopathy with subcortical cysts 10.2 MT-TK TYMP
18 intussusception 10.1 MT-TK TYMP
19 multiple epiphyseal dysplasia, recessive 10.1 POLG TYMP
20 neuropathy 10.0
21 strabismus 10.0
22 perrault syndrome 5 9.9 SLC25A4 TWNK
23 multiple epiphyseal dysplasia with robin phenotype 9.8 MT-TI MT-TK SDHB TWNK
24 neuronitis 9.8
25 exophthalmos 9.8
26 ataxia 9.8
27 keratopathy 9.8
28 encephalopathy 9.8
29 motor neuron disease 9.8
30 atrioventricular block 9.8
31 third-degree atrioventricular block 9.8
32 sensorineural hearing loss 9.8
33 esophagitis 9.8
34 pharyngitis 9.8
35 huntington disease 9.8
36 retinitis 9.8
37 chronic lacrimal gland enlargement 9.7 POLG TWNK
38 myoclonic epilepsy associated with ragged-red fibers 9.7 MT-TK POLG TYMP
39 pseudosarcomatous fibromatosis 9.6 POLG SLC25A4 TWNK
40 charcot-marie-tooth disease, dominant intermediate f 9.5 MT-TK POLG TWNK TYMP
41 protoplasmic astrocytoma 9.2 MT-TK MT-TL2 POLG SLC25A4
42 enterocele 9.2 POLG SLC25A4 TWNK TYMP
43 mitochondrial recessive ataxia syndrome 9.0 POLG POLG2 TWNK TYMP
44 b9d2-related meckel syndrome 8.9 POLG POLG2 SLC25A4 TWNK
45 mental retardation with spastic paraplegia 8.9 MT-TK POLG SLC25A4 TWNK TYMP
46 bjornstad syndrome 8.7 MT-TI MT-TK POLG POLG2 SDHB
47 clear cell sarcoma 8.5 POLG POLG2 SLC25A4 TWNK
48 multiminicore disease 7.3 MT-TA MT-TK MT-TL2 POLG POLG2 SLC25A4
49 dyscalculia 6.2 MT-TA MT-TI MT-TK MT-TL2 POLG POLG2

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

UMLS symptoms related to Chronic Progressive External Ophthalmoplegia:


ophthalmoplegia

Drugs & Therapeutics for Chronic Progressive External Ophthalmoplegia

Drugs for Chronic Progressive External Ophthalmoplegia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ubiquinone

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
2 MRI Study - Chronic Progressive External Ophthalmoplegia Completed NCT02161848
3 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
4 Natural History of Pearson Syndrome Enrolling by invitation NCT02327364

Search NIH Clinical Center for Chronic Progressive External Ophthalmoplegia

Cochrane evidence based reviews: ophthalmoplegia, chronic progressive external

Genetic Tests for Chronic Progressive External Ophthalmoplegia

Genetic tests related to Chronic Progressive External Ophthalmoplegia:

id Genetic test Affiliating Genes
1 Progressive External Ophthalmoplegia 29 24

Anatomical Context for Chronic Progressive External Ophthalmoplegia

MalaCards organs/tissues related to Chronic Progressive External Ophthalmoplegia:

39
Eye, Skeletal Muscle, Retina, Skin, Brain, Heart

Publications for Chronic Progressive External Ophthalmoplegia

Articles related to Chronic Progressive External Ophthalmoplegia:

(show top 50) (show all 154)
id Title Authors Year
1
Unilateral Ptosis and Homolateral Hemifacial Weakness in Chronic Progressive External Ophthalmoplegia. ( 28512510 )
2017
2
Axonal hyperexcitability due to Schwann cell involvement in chronic progressive external ophthalmoplegia. ( 28811105 )
2017
3
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings. ( 28175988 )
2017
4
Nerve excitability changes related to muscle weakness in chronic progressive external ophthalmoplegia. ( 28535487 )
2017
5
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. ( 27014581 )
2016
6
Late-Onset Development of Eyelid Ptosis in Chronic Progressive External Ophthalmoplegia: A 30-Year Follow-up. ( 27928383 )
2016
7
Chronic Progressive External Ophthalmoplegia in the Absence of Ptosis. ( 27111092 )
2016
8
Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging. ( 26689116 )
2016
9
Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia. ( 27470685 )
2016
10
Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion. ( 27113600 )
2016
11
Vocal cord palsy in a case of chronic progressive external ophthalmoplegia. ( 26713034 )
2015
12
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. ( 24727571 )
2014
13
Cardiac involvement in chronic progressive external ophthalmoplegia. ( 25139213 )
2014
14
Pharyngeal transit in patients with chronic progressive external ophthalmoplegia. ( 25142449 )
2014
15
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
16
Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype. ( 25034047 )
2014
17
Chronic progressive external ophthalmoplegia with inflammatory myopathy. ( 25674260 )
2014
18
Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients. ( 23719791 )
2013
19
No association between mitochondrial tRNA(Val) T1658C mutation and chronic progressive external ophthalmoplegia (CPEO). ( 23815321 )
2013
20
Chronic progressive external ophthalmoplegia coexistent with motor neuron disease in a patient with a novel large-scale mitochondrial DNA deletion. ( 23266267 )
2013
21
Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia. ( 24086434 )
2013
22
Paralytic exophthalmos in chronic progressive external ophthalmoplegia. ( 22504268 )
2012
23
Diagnostic investigations of patients with chronic progressive external ophthalmoplegia. ( 23024221 )
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
Sleep disturbances in chronic progressive external ophthalmoplegia. ( 21819490 )
2012
26
Chronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient. ( 21249588 )
2011
27
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of mitochondrial DNA deletion in chronic progressive external ophthalmoplegia (CPEO). ( 22166510 )
2011
28
Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia. ( 21292040 )
2011
29
Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia. ( 21533826 )
2011
30
Disease impact in chronic progressive external ophthalmoplegia: more than meets the eye. ( 21236670 )
2011
31
Multisystem disorder in late-onset chronic progressive external ophthalmoplegia. ( 21156440 )
2011
32
Esophageal contractions in patients with chronic progressive external ophthalmoplegia. ( 21399928 )
2011
33
A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia. ( 20884012 )
2011
34
Eye movement recordings to investigate a supranuclear component in chronic progressive external ophthalmoplegia: a cross-sectional study. ( 20576783 )
2010
35
Morphological findings of extraocular myopathy with chronic progressive external ophthalmoplegia. ( 20192704 )
2010
36
A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO). ( 20149659 )
2010
37
A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle. ( 20810132 )
2010
38
The management of strabismus in patients with chronic progressive external ophthalmoplegia. ( 20521878 )
2010
39
Chronic progressive external ophthalmoplegia with recurrent quadriparesis : an unusual presentation. ( 21045517 )
2010
40
Molecular analysis in a family presenting with a mild form of late- onset autosomal dominant chronic progressive external ophthalmoplegia. ( 19428252 )
2009
41
Dynamic properties of eye movements in mitochondrial chronic progressive external ophthalmoplegia. ( 17962819 )
2009
42
Cystoid macular edema in a patient with chronic progressive external ophthalmoplegia with mitochondrial myopathy. ( 19172512 )
2009
43
Frontalis suspension sling using palmaris longus tendon in chronic progressive external ophthalmoplegia. ( 19300161 )
2009
44
Frontalis sling operation using silicone rod for the correction of ptosis in chronic progressive external ophthalmoplegia. ( 18786957 )
2008
45
An autopsy case of chronic progressive external ophthalmoplegia with renal insufficiency. ( 19107614 )
2008
46
Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA. ( 18603265 )
2008
47
Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia. ( 18384291 )
2008
48
Tetracycline delays ocular motility decline in chronic progressive external ophthalmoplegia. ( 17404203 )
2007
49
Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle. ( 17965958 )
2007
50
Chronic progressive external ophthalmoplegia: a report of 6 cases and a review of the literature. ( 17215725 )
2007

Variations for Chronic Progressive External Ophthalmoplegia

Expression for Chronic Progressive External Ophthalmoplegia

Search GEO for disease gene expression data for Chronic Progressive External Ophthalmoplegia.

Pathways for Chronic Progressive External Ophthalmoplegia

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.17 MT-TA MT-TI MT-TK MT-TL2

GO Terms for Chronic Progressive External Ophthalmoplegia

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.43 POLG POLG2 SDHB SLC25A4 SPG7 TWNK
2 mitochondrial nucleoid GO:0042645 8.8 POLG POLG2 TWNK

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

id Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.54 POLG POLG2 TWNK
2 cellular response to glucose stimulus GO:0071333 9.43 POLG TWNK
3 DNA biosynthetic process GO:0071897 9.4 POLG POLG2
4 DNA-dependent DNA replication GO:0006261 9.32 POLG POLG2
5 respiratory electron transport chain GO:0022904 9.26 POLG2 SDHB
6 mitochondrial genome maintenance GO:0000002 9.16 SLC25A4 TYMP
7 mitochondrion organization GO:0007005 9.13 POLG2 SPG7 TWNK
8 mitochondrial DNA replication GO:0006264 8.62 POLG TWNK

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

id Name GO ID Score Top Affiliating Genes
1 nucleotidyltransferase activity GO:0016779 8.96 POLG POLG2
2 DNA-directed DNA polymerase activity GO:0003887 8.62 POLG POLG2

Sources for Chronic Progressive External Ophthalmoplegia

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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
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