MCID: CHR095
MIFTS: 43

Chronic Progressive External Ophthalmoplegia

Categories: Rare diseases, Eye 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 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
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 maternally-inherited progressive external ophthalmoplegia and kearns-sayre syndrome, 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.

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 65)
# Related Disease Score Top Affiliating Genes
1 maternally-inherited progressive external ophthalmoplegia 32.4 MT-TL2 POLG TWNK
2 kearns-sayre syndrome 30.4 COX5A MT-TK POLG SLC25A4 TWNK TYMP
3 mitochondrial myopathy 28.7 COX5A MT-TA MT-TL2 POLG SLC25A4
4 myopathy 28.6 POLG POLG2 SLC25A4 TWNK
5 mitochondrial disorders 24.1 COX5A MT-TA MT-TK MT-TL2 POLG POLG2
6 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 11.8
7 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.8
8 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 11.8
9 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.8
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 ataxia neuropathy spectrum 10.4 POLG TWNK
16 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.3 POLG TWNK
17 ptosis 10.3
18 mitochondrial dna depletion syndrome 7 10.2 SLC25A4 TWNK
19 mitochondrial dna-associated leigh syndrome and narp 10.2 MT-TI MT-TK MT-TL2
20 early myoclonic encephalopathy 10.2 COX5A MT-TK
21 diabetic polyneuropathy 10.2 POLG TWNK
22 neonatal period electroclinical syndrome 10.2 MT-TK POLG
23 optic nerve disease 10.1
24 neuropathy 10.1
25 autosomal recessive cerebellar ataxia 10.0 SPG7 TWNK
26 multiple sclerosis 10.0
27 polyglucosan body myopathy 1 with or without immunodeficiency 10.0
28 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
29 retinitis 10.0
30 mitochondrial metabolism disease 10.0
31 paralytic ileus 9.9 MT-TK TYMP
32 atrial standstill 1 9.8
33 huntington disease 9.8
34 hypercholesterolemia, familial 9.8
35 macular dystrophy, dominant cystoid 9.8
36 retinitis pigmentosa 9.8
37 aging 9.8
38 focal segmental glomerulosclerosis 1 9.8
39 leber congenital amaurosis 4 9.8
40 focal segmental glomerulosclerosis 9.8
41 keratopathy 9.8
42 motor neuron disease 9.8
43 atrioventricular block 9.8
44 third-degree atrioventricular block 9.8
45 sensorineural hearing loss 9.8
46 esophagitis 9.8
47 pharyngitis 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 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, Testes, Heart

Publications for Chronic Progressive External Ophthalmoplegia

Articles related to Chronic Progressive External Ophthalmoplegia:

(show top 50) (show all 261)
# 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
Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report. ( 29310369 )
2017
5
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings. ( 28175988 )
2017
6
Unilateral Ptosis and Homolateral Hemifacial Weakness in Chronic Progressive External Ophthalmoplegia. ( 28512510 )
2017
7
Axonal hyperexcitability due to Schwann cell involvement in chronic progressive external ophthalmoplegia. ( 28811105 )
2017
8
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
9
Focal Segmental Glomerulosclerosis Associated with Chronic Progressive External Ophthalmoplegia and Mitochondrial DNA A3243G Mutation. ( 29190634 )
2017
10
Surgical Technique for Pulled in Two Syndrome: Three Cases With Chronic Progressive External Ophthalmoplegia. ( 29156062 )
2017
11
Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort. ( 29246868 )
2017
12
Nerve excitability changes related to muscle weakness in chronic progressive external ophthalmoplegia. ( 28535487 )
2017
13
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. ( 27014581 )
2016
14
Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia. ( 27470685 )
2016
15
Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging. ( 26689116 )
2016
16
Progressive External Ophthalmoplegia. ( 27072953 )
2016
17
Double trouble progressive external ophthalmoplegia and Huntington's disease. ( 27144127 )
2016
18
Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion. ( 27113600 )
2016
19
Late-Onset Development of Eyelid Ptosis in Chronic Progressive External Ophthalmoplegia: A 30-Year Follow-up. ( 27928383 )
2016
20
Chronic Progressive External Ophthalmoplegia in the Absence of Ptosis. ( 27111092 )
2016
21
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change. ( 26838077 )
2016
22
Vocal cord palsy in a case of chronic progressive external ophthalmoplegia. ( 26713034 )
2015
23
Multiple deletions in mitochondrial DNA in a patient with progressive external ophthalmoplegia, leukoencephalopathy and hypogonadism. ( 24930659 )
2014
24
Pharyngeal transit in patients with chronic progressive external ophthalmoplegia. ( 25142449 )
2014
25
Cardiac involvement in chronic progressive external ophthalmoplegia. ( 25139213 )
2014
26
[Retinal ganglion cell layer and visual function in patients with progressive external ophthalmoplegia caused by common mtDNA deletion]. ( 25518262 )
2014
27
Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype. ( 25034047 )
2014
28
Chronic progressive external ophthalmoplegia with inflammatory myopathy. ( 25674260 )
2014
29
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
30
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. ( 24727571 )
2014
31
Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients. ( 23719791 )
2013
32
Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia. ( 24091712 )
2013
33
Orthostatic tremor, progressive external ophthalmoplegia, and Twinkle. ( 24061067 )
2013
34
Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia. ( 24086434 )
2013
35
Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis. ( 24014582 )
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
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
38
No association between mitochondrial tRNA(Val) T1658C mutation and chronic progressive external ophthalmoplegia (CPEO). ( 23815321 )
2013
39
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. ( 21937588 )
2012
40
Paralytic exophthalmos in chronic progressive external ophthalmoplegia. ( 22504268 )
2012
41
Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia. ( 22728862 )
2012
42
Cardiac screening investigations in adult-onset progressive external ophthalmoplegia patients. ( 22987704 )
2012
43
Sleep disturbances in chronic progressive external ophthalmoplegia. ( 21819490 )
2012
44
Diagnostic investigations of patients with chronic progressive external ophthalmoplegia. ( 23024221 )
2012
45
Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO? ( 22931735 )
2012
46
Progressive external ophthalmoplegia in southwestern Finland: a clinical and genetic study. ( 22377773 )
2012
47
A new mitochondrial point mutation in the transfer RNA(Lys) gene associated with progressive external ophthalmoplegia with impaired respiratory regulation. ( 22326363 )
2012
48
The mutations m.5628T>C and m.8348A>G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia. ( 22743145 )
2012
49
Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism. ( 21301859 )
2011
50
Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia. ( 21951382 )
2011

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 MT-TS1 NC_012920.1: m.7486G> A single nucleotide variant Uncertain significance GRCh37 Chromosome MT, 7486: 7486
2 MT-TS1 NC_012920.1: m.7486G> A single nucleotide variant Uncertain significance GRCh38 Chromosome MT, 7486: 7486
3 TWNK NM_021830.4(TWNK): c.1121G> A (p.Arg374Gln) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 10, 102749088: 102749088
4 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 KEGG:

37
# 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 9.5 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 9.37 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

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
73 UMLS
74 UMLS via Orphanet
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