MCID: CHR095
MIFTS: 44

Chronic Progressive External Ophthalmoplegia

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

Aliases & Classifications for Chronic Progressive External Ophthalmoplegia

MalaCards integrated aliases for Chronic Progressive External Ophthalmoplegia:

Name: Chronic Progressive External Ophthalmoplegia 12 49 24 14 69
Progressive External Ophthalmoplegia 12 72 49 24 36 28 51
Cpeo 49 24
Chronic Progressive External Ophthalmoplegia [ambiguous] 12
Ophthalmoplegia, Chronic Progressive External 41
Peo 24

Classifications:



External Ids:

Disease Ontology 12 DOID:12558
ICD10 32 H49.4
ICD9CM 34 378.72
MeSH 41 D017246
KEGG 36 H01118
UMLS 69 C0162674

Summaries for Chronic Progressive External Ophthalmoplegia

NIH Rare Diseases : 49 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 myopathy, 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 are Calcium signaling pathway and Purine metabolism. The drug Ubiquinone has been mentioned in the context of this disorder. Affiliated tissues include eye, skeletal muscle and retina.

Genetics Home Reference : 24 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:

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 top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 kearns-sayre syndrome 30.9 COX5A MT-TK POLG SLC25A4 TWNK TYMP
2 mitochondrial myopathy 29.2 COX5A MT-TA MT-TL2 POLG SLC25A4
3 myopathy 29.2 POLG POLG2 SLC25A4 TWNK
4 mitochondrial metabolism disease 28.7 MT-TK MT-TL2 POLG SLC25A4 SPG7 TWNK
5 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 11.8
6 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.8
7 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 11.8
8 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.8
9 maternally-inherited progressive external ophthalmoplegia 11.6
10 mitochondrial dna depletion syndrome 11 11.5
11 strabismus 11.4
12 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 11.4
13 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 11.2
14 ocular muscular dystrophy 11.2
15 ptosis 10.3
16 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.2 POLG TWNK
17 mitochondrial dna-associated leigh syndrome and narp 10.1 MT-TI MT-TK MT-TL2
18 mitochondrial dna depletion syndrome 7 10.1 SLC25A4 TWNK
19 neonatal period electroclinical syndrome 10.1 MT-TK POLG
20 diabetic polyneuropathy 10.1 POLG TWNK
21 neuropathy 10.1
22 mitochondrial encephalomyopathy 10.0 COX5A MT-TK MT-TL2
23 hereditary ataxia 10.0 SPG7 TWNK
24 multiple sclerosis 10.0
25 polyglucosan body myopathy 1 with or without immunodeficiency 10.0
26 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
27 myoclonic epilepsy associated with ragged-red fibers 10.0 COX5A MT-TI MT-TK TWNK
28 early myoclonic encephalopathy 9.9 COX5A MT-TK
29 paralytic ileus 9.9 MT-TK TYMP
30 atrial standstill 1 9.8
31 huntington disease 9.8
32 hypercholesterolemia, familial 9.8
33 ataxia and polyneuropathy, adult-onset 9.8
34 aging 9.8
35 focal segmental glomerulosclerosis 1 9.8
36 hypercholesterolemia, autosomal dominant, 3 9.8
37 spastic paraplegia 7, autosomal recessive 9.8
38 hydrops, lactic acidosis, and sideroblastic anemia 9.8
39 focal segmental glomerulosclerosis 9.8
40 keratopathy 9.8
41 motor neuron disease 9.8
42 atrioventricular block 9.8
43 third-degree atrioventricular block 9.8
44 sensorineural hearing loss 9.8
45 esophagitis 9.8
46 pharyngitis 9.8
47 retinitis 9.8
48 macular retinal edema 9.8
49 intracranial hypotension 9.8
50 neuronitis 9.8

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):


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

Interventional clinical trials:


# 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 Nicotinamide Riboside and Mitochondrial Biogenesis Recruiting NCT03432871
4 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
5 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:

# Genetic test Affiliating Genes
1 Progressive External Ophthalmoplegia 28

Anatomical Context for Chronic Progressive External Ophthalmoplegia

MalaCards organs/tissues related to Chronic Progressive External Ophthalmoplegia:

38
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 250)
# Title Authors Year
1
False positive acetylcholine receptor antibodies in a case of unilateral chronic progressive external ophthalmoplegia: case report and review of literature. ( 29333908 )
2018
2
Intracranial hypotension mimicking chronic progressive external ophthalmoplegia. ( 29300676 )
2018
3
Axonal hyperexcitability due to Schwann cell involvement in chronic progressive external ophthalmoplegia. ( 28811105 )
2017
4
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant. ( 29398297 )
2017
5
Surgical Technique for Pulled in Two Syndrome: Three Cases With Chronic Progressive External Ophthalmoplegia. ( 29156062 )
2017
6
Focal Segmental Glomerulosclerosis Associated with Chronic Progressive External Ophthalmoplegia and Mitochondrial DNA A3243G Mutation. ( 29190634 )
2017
7
Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort. ( 29246868 )
2017
8
Nerve excitability changes related to muscle weakness in chronic progressive external ophthalmoplegia. ( 28535487 )
2017
9
Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report. ( 29310369 )
2017
10
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings. ( 28175988 )
2017
11
Unilateral Ptosis and Homolateral Hemifacial Weakness in Chronic Progressive External Ophthalmoplegia. ( 28512510 )
2017
12
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change. ( 26838077 )
2016
13
Chronic Progressive External Ophthalmoplegia in the Absence of Ptosis. ( 27111092 )
2016
14
Double trouble progressive external ophthalmoplegia and Huntington's disease. ( 27144127 )
2016
15
Progressive External Ophthalmoplegia. ( 27072953 )
2016
16
Late-Onset Development of Eyelid Ptosis in Chronic Progressive External Ophthalmoplegia: A 30-Year Follow-up. ( 27928383 )
2016
17
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. ( 27014581 )
2016
18
Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion. ( 27113600 )
2016
19
Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging. ( 26689116 )
2016
20
Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia. ( 27470685 )
2016
21
Vocal cord palsy in a case of chronic progressive external ophthalmoplegia. ( 26713034 )
2015
22
Chronic progressive external ophthalmoplegia with inflammatory myopathy. ( 25674260 )
2014
23
Cardiac involvement in chronic progressive external ophthalmoplegia. ( 25139213 )
2014
24
Pharyngeal transit in patients with chronic progressive external ophthalmoplegia. ( 25142449 )
2014
25
Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype. ( 25034047 )
2014
26
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
27
Multiple deletions in mitochondrial DNA in a patient with progressive external ophthalmoplegia, leukoencephalopathy and hypogonadism. ( 24930659 )
2014
28
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. ( 24727571 )
2014
29
Orthostatic tremor, progressive external ophthalmoplegia, and Twinkle. ( 24061067 )
2013
30
Subnormal levels of POLI^A cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected]. ( 23446635 )
2013
31
Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia. ( 24086434 )
2013
32
Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia. ( 24091712 )
2013
33
No association between mitochondrial tRNA(Val) T1658C mutation and chronic progressive external ophthalmoplegia (CPEO). ( 23815321 )
2013
34
Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis. ( 24014582 )
2013
35
Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients. ( 23719791 )
2013
36
Chronic progressive external ophthalmoplegia coexistent with motor neuron disease in a patient with a novel large-scale mitochondrial DNA deletion. ( 23266267 )
2013
37
Cardiac screening investigations in adult-onset progressive external ophthalmoplegia patients. ( 22987704 )
2012
38
Paralytic exophthalmos in chronic progressive external ophthalmoplegia. ( 22504268 )
2012
39
Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO? ( 22931735 )
2012
40
A new mitochondrial point mutation in the transfer RNA(Lys) gene associated with progressive external ophthalmoplegia with impaired respiratory regulation. ( 22326363 )
2012
41
Diagnostic investigations of patients with chronic progressive external ophthalmoplegia. ( 23024221 )
2012
42
Sleep disturbances in chronic progressive external ophthalmoplegia. ( 21819490 )
2012
43
The mutations m.5628T>C and m.8348A>G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia. ( 22743145 )
2012
44
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. ( 21937588 )
2012
45
Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia. ( 22728862 )
2012
46
Progressive external ophthalmoplegia in southwestern Finland: a clinical and genetic study. ( 22377773 )
2012
47
Multisystem disorder in late-onset chronic progressive external ophthalmoplegia. ( 21156440 )
2011
48
Progressive external ophthalmoplegia as initial manifestation of sporadic late-onset nemaline myopathy. ( 21072530 )
2011
49
Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia. ( 21292040 )
2011
50
A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia. ( 20813205 )
2011

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 KEGG:

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Purine metabolism hsa00230
3 Pyrimidine metabolism hsa00240
4 Glutathione metabolism hsa00480

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

# 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:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.43 COX5A POLG POLG2 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:

# 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 regulation of mitochondrial membrane permeability GO:0046902 9.26 SLC25A4 SPG7
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:

# Name GO ID Score Top Affiliating Genes
1 DNA-directed DNA polymerase activity GO:0003887 8.62 POLG POLG2

Sources for Chronic Progressive External Ophthalmoplegia

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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