PEO
MCID: CHR095
MIFTS: 47

Chronic Progressive External Ophthalmoplegia (PEO)

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

Aliases & Classifications for Chronic Progressive External Ophthalmoplegia

MalaCards integrated aliases for Chronic Progressive External Ophthalmoplegia:

Name: Chronic Progressive External Ophthalmoplegia 12 53 25 15 73
Progressive External Ophthalmoplegia 12 76 53 25 37 29 55 6
Cpeo 53 25
Ophthalmoplegia, External, Progressive, Chronic 40
Ophthalmoplegia, Chronic Progressive External 44
Peo 25

Classifications:



External Ids:

Disease Ontology 12 DOID:12558
ICD10 33 H49.4
ICD9CM 35 378.72
MeSH 44 D017246
SNOMED-CT 68 46252003
KEGG 37 H01118
UMLS 73 C0162674

Summaries for Chronic Progressive External Ophthalmoplegia

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).

MalaCards based summary : Chronic Progressive External Ophthalmoplegia, also known as progressive external ophthalmoplegia, is related to autosomal dominant progressive external ophthalmoplegia and maternally-inherited progressive external ophthalmoplegia, 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 tRNA Aminoacylation and Nucleotide Metabolism. The drugs Nicotinamide and Niacin have been mentioned in the context of this disorder. Affiliated tissues include eye, skeletal muscle and retina, and related phenotype is cellular.

NIH Rare Diseases : 53 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.

Wikipedia : 76 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 105)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant progressive external ophthalmoplegia 33.3 POLG POLG2 RRM2B SLC25A4 TWNK
2 maternally-inherited progressive external ophthalmoplegia 32.6 MT-TL2 POLG TWNK
3 kearns-sayre syndrome 32.5 COX5A POLG RRM2B SLC25A4 TWNK TYMP
4 mitochondrial dna depletion syndrome 1 32.0 POLG TYMP
5 mitochondrial dna depletion syndrome 7 31.8 SLC25A4 TWNK
6 ptosis 30.3 POLG RRM2B TYMP
7 mitochondrial disorders 30.0 COX5A SLC25A4
8 mitochondrial myopathy 30.0 COX5A MT-TA MT-TL2 POLG SLC25A4
9 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 29.7 POLG TWNK TYMP
10 mitochondrial neurogastrointestinal encephalomyopathy 29.6 POLG RRM2B TYMP
11 mitochondrial metabolism disease 28.5 COX5A MT-TL2 POLG POLG2 RRM2B SLC25A4
12 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 12.7
13 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 12.7
14 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 12.7
15 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 12.7
16 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 12.4
17 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 12.0
18 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 12.0
19 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 12.0
20 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 12.0
21 mitochondrial dna depletion syndrome 11 11.9
22 ocular muscular dystrophy 11.7
23 gaze palsy, familial horizontal, with progressive scoliosis, 1 11.7
24 strabismus 11.6
25 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 11.5
26 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 11.4
27 horizontal gaze palsy with progressive scoliosis 11.3
28 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 11.3
29 mitochondrial dna depletion syndrome 4b 11.3
30 combined oxidative phosphorylation deficiency 33 11.3
31 optic atrophy 1 11.1
32 combined oxidative phosphorylation deficiency 20 11.1
33 myopathy 10.4
34 optic nerve disease 10.2
35 neuropathy 10.2
36 ataxia neuropathy spectrum 10.1 POLG TWNK
37 hypogonadism 10.1
38 tremor 10.1
39 multiple sclerosis 10.1
40 polyglucosan body myopathy 1 with or without immunodeficiency 10.1
41 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
42 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.1 POLG TWNK
43 exotropia 10.1
44 hereditary sensory neuropathy 10.0
45 relapsing-remitting multiple sclerosis 10.0
46 sensory peripheral neuropathy 10.0
47 peripheral nervous system disease 10.0
48 diabetic polyneuropathy 10.0 POLG TWNK
49 breast cancer 10.0
50 leigh syndrome 10.0

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

MGI Mouse Phenotypes related to Chronic Progressive External Ophthalmoplegia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.17 HELLS POLG POLG2 RRM2B SLC25A4 TWNK

Drugs & Therapeutics for Chronic Progressive External Ophthalmoplegia

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational Not Applicable 98-92-0 936
2
Niacin Approved, Investigational, Nutraceutical Not Applicable 59-67-6 938
3
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
4 Vasodilator Agents Not Applicable
5 Vitamin B9 Not Applicable
6 Lipid Regulating Agents Not Applicable
7 Micronutrients Not Applicable
8 Vitamin B3 Not Applicable
9 Antimetabolites Not Applicable
10 Vitamin B Complex Not Applicable
11 Vitamins Not Applicable
12 Folate Not Applicable
13 Nicotinic Acids Not Applicable
14 Trace Elements Not Applicable
15 Hypolipidemic Agents Not Applicable
16 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 Not Applicable
4 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
5 Low Residue Diet Study in Mitochondrial Disease Recruiting NCT03388528 Not Applicable
6 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 29

Anatomical Context for Chronic Progressive External Ophthalmoplegia

MalaCards organs/tissues related to Chronic Progressive External Ophthalmoplegia:

41
Eye, Skeletal Muscle, Retina, Skin, Brain, Heart, Pancreas

Publications for Chronic Progressive External Ophthalmoplegia

Articles related to Chronic Progressive External Ophthalmoplegia:

(show top 50) (show all 310)
# Title Authors Year
1
Intracranial hypotension mimicking chronic progressive external ophthalmoplegia. ( 29300676 )
2018
2
False positive acetylcholine receptor antibodies in a case of unilateral chronic progressive external ophthalmoplegia: case report and review of literature. ( 29333908 )
2018
3
Strabismus surgery for diplopia in chronic progressive external ophthalmoplegia. ( 29582258 )
2018
4
Novel mutation in the RNASEH1 gene in a chronic progressive external ophthalmoplegia patient. ( 30340744 )
2018
5
Relapsing remitting multiple sclerosis in progressive external ophthalmoplegia: A report of two cases. ( 30557092 )
2018
6
Clinical commentary on 'Relapsing remitting multiple sclerosis in progressive external ophthalmoplegia: A report of two cases'. ( 30557095 )
2018
7
Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report. ( 29310369 )
2017
8
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings. ( 28175988 )
2017
9
Unilateral Ptosis and Homolateral Hemifacial Weakness in Chronic Progressive External Ophthalmoplegia. ( 28512510 )
2017
10
Axonal hyperexcitability due to Schwann cell involvement in chronic progressive external ophthalmoplegia. ( 28811105 )
2017
11
RE: "Unilateral Ptosis and Homolateral Hemifacial Weakness in Chronic Progressive External Ophthalmoplegia". ( 28533811 )
2017
12
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
13
Focal Segmental Glomerulosclerosis Associated with Chronic Progressive External Ophthalmoplegia and Mitochondrial DNA A3243G Mutation. ( 29190634 )
2017
14
Surgical Technique for Pulled in Two Syndrome: Three Cases With Chronic Progressive External Ophthalmoplegia. ( 29156062 )
2017
15
Reply to "Axonal hyperexcitability due to Schwann cell involvement in chronic progressive external ophthalmoplegia". ( 28838816 )
2017
16
Nerve excitability changes related to muscle weakness in chronic progressive external ophthalmoplegia. ( 28535487 )
2017
17
Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort. ( 29246868 )
2017
18
Reply to: "Peculiarities of progressive external ophthalmoplegia due to single mtDNA deletions". ( 28359601 )
2017
19
C10ORF2 mutation associated with progressive external ophthalmoplegia and clinically isolated syndrome. ( 28528470 )
2017
20
Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia. ( 29264394 )
2017
21
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. ( 27014581 )
2016
22
Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia. ( 27470685 )
2016
23
Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging. ( 26689116 )
2016
24
Progressive External Ophthalmoplegia. ( 27072953 )
2016
25
Double trouble progressive external ophthalmoplegia and Huntington's disease. ( 27144127 )
2016
26
Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion. ( 27113600 )
2016
27
Late-Onset Development of Eyelid Ptosis in Chronic Progressive External Ophthalmoplegia: A 30-Year Follow-up. ( 27928383 )
2016
28
Chronic Progressive External Ophthalmoplegia in the Absence of Ptosis. ( 27111092 )
2016
29
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change. ( 26838077 )
2016
30
Reply to: Double trouble progressive external ophthalmoplegia and Huntington's disease. ( 27331008 )
2016
31
Peculiarities of progressive external ophthalmoplegia due to single mitochondrial DNA deletions. ( 27814938 )
2016
32
Vocal cord palsy in a case of chronic progressive external ophthalmoplegia. ( 26713034 )
2015
33
Multiple deletions in mitochondrial DNA in a patient with progressive external ophthalmoplegia, leukoencephalopathy and hypogonadism. ( 24930659 )
2014
34
Pharyngeal transit in patients with chronic progressive external ophthalmoplegia. ( 25142449 )
2014
35
Cardiac involvement in chronic progressive external ophthalmoplegia. ( 25139213 )
2014
36
[Retinal ganglion cell layer and visual function in patients with progressive external ophthalmoplegia caused by common mtDNA deletion]. ( 25518262 )
2014
37
Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype. ( 25034047 )
2014
38
Chronic progressive external ophthalmoplegia with inflammatory myopathy. ( 25674260 )
2014
39
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
40
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. ( 24727571 )
2014
41
No association between mitochondrial tRNA(Val) T1658C mutation and chronic progressive external ophthalmoplegia (CPEO). ( 23815321 )
2014
42
Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients. ( 23719791 )
2013
43
Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia. ( 24091712 )
2013
44
Orthostatic tremor, progressive external ophthalmoplegia, and Twinkle. ( 24061067 )
2013
45
Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia. ( 24086434 )
2013
46
Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis. ( 24014582 )
2013
47
Chronic progressive external ophthalmoplegia coexistent with motor neuron disease in a patient with a novel large-scale mitochondrial DNA deletion. ( 23266267 )
2013
48
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
49
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. ( 21937588 )
2012
50
Paralytic exophthalmos in chronic progressive external ophthalmoplegia. ( 22504268 )
2012

Variations for Chronic Progressive External Ophthalmoplegia

ClinVar genetic disease variations for Chronic Progressive External Ophthalmoplegia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RRM2B NM_015713.4(RRM2B): c.606T> A (p.Phe202Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs515726194 GRCh37 Chromosome 8, 103231120: 103231120
2 RRM2B NM_015713.4(RRM2B): c.606T> A (p.Phe202Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs515726194 GRCh38 Chromosome 8, 102218892: 102218892
3 RRM2B NM_015713.4(RRM2B): c.817G> A (p.Gly273Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs387906891 GRCh37 Chromosome 8, 103225090: 103225090
4 RRM2B NM_015713.4(RRM2B): c.817G> A (p.Gly273Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs387906891 GRCh38 Chromosome 8, 102212862: 102212862
5 RRM2B NM_015713.4(RRM2B): c.97C> T (p.Pro33Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs387906892 GRCh37 Chromosome 8, 103244484: 103244484
6 RRM2B NM_015713.4(RRM2B): c.97C> T (p.Pro33Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs387906892 GRCh38 Chromosome 8, 102232256: 102232256
7 MT-TS1 NC_012920.1: m.7486G> A single nucleotide variant Uncertain significance GRCh37 Chromosome MT, 7486: 7486
8 MT-TS1 NC_012920.1: m.7486G> A single nucleotide variant Uncertain significance GRCh38 Chromosome MT, 7486: 7486
9 TWNK NM_021830.4(TWNK): c.1121G> A (p.Arg374Gln) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 10, 102749088: 102749088
10 TWNK NM_021830.4(TWNK): c.1121G> A (p.Arg374Gln) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 10, 100989331: 100989331

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.37 MT-TA MT-TI MT-TL2
2 9.9 POLG RRM2B

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 9.5 COX5A POLG POLG2 RRM2B SLC25A4 SPG7
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 cellular response to glucose stimulus GO:0071333 9.4 POLG TWNK
2 DNA biosynthetic process GO:0071897 9.37 POLG POLG2
3 mitochondrion organization GO:0007005 9.33 POLG2 SPG7 TWNK
4 DNA-dependent DNA replication GO:0006261 9.32 POLG POLG2
5 mitochondrial genome maintenance GO:0000002 9.26 SLC25A4 TYMP
6 DNA replication GO:0006260 9.26 POLG POLG2 RRM2B TWNK
7 mitochondrial DNA replication GO:0006264 8.92 POLG POLG2 RRM2B 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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