MCID: CHR095
MIFTS: 42

Chronic Progressive External Ophthalmoplegia malady

Genetic diseases, Rare diseases, Eye diseases, Muscle diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for Chronic Progressive External Ophthalmoplegia

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Aliases & Descriptions for Chronic Progressive External Ophthalmoplegia:

Name: Chronic Progressive External Ophthalmoplegia 10 45 23 12 65 22
Progressive External Ophthalmoplegia 10 45 22 23 47 24
Cpeo 45 22 23
 
Peo 22 23
Ophthalmoplegia, Chronic Progressive External 36


Classifications:



External Ids:

Disease Ontology10 DOID:12558
ICD9CM29 378.72
MeSH36 D017246
ICD1027 H49.4

Summaries for Chronic Progressive External Ophthalmoplegia

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NIH Rare Diseases:45 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: 10/10/2013

MalaCards based summary: Chronic Progressive External Ophthalmoplegia, also known as progressive external ophthalmoplegia, is related to mitochondrial recessive ataxia syndrome and ophthalmoplegia. An important gene associated with Chronic Progressive External Ophthalmoplegia is C10orf2 (Chromosome 10 Open Reading Frame 2), and among its related pathways are Cell Cycle Control of Chromosomal Replication and tRNA Aminoacylation. Affiliated tissues include eye, skeletal muscle and retina.

Genetics Home Reference:23 Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia).

Related Diseases for Chronic Progressive External Ophthalmoplegia

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Diseases in the Ophthalmoplegia family:

Progressive External Ophthalmoplegia, Autosomal Recessive 1 Progressive External Ophthalmoplegia, Autosomal Dominant 1
Total Internal Ophthalmoplegia chronic progressive external ophthalmoplegia
Autosomal Dominant Progressive External Ophthalmoplegia Autosomal Recessive 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 91)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial recessive ataxia syndrome30.0C10orf2, POLG, POLG2, TYMP
2ophthalmoplegia11.3
3autosomal dominant progressive external ophthalmoplegia10.9
4myopathy10.7
5kearns-sayre syndrome10.7
6progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 610.7
7progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 510.7
8ptosis10.6
9progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 210.6
10cerebellar ataxia infantile with progressive external ophthalmoplegia10.6
11autosomal recessive progressive external ophthalmoplegia10.6
12neuropathy10.5
13strabismus10.5
14adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy10.5
15ocular muscular dystrophy10.4
16maternally-inherited progressive external ophthalmoplegia10.4
17gaze palsy, horizontal, with progressive scoliosis10.4
18mitochondrial dna depletion syndrome 4b10.4
19mitochondrial dna depletion syndrome 1110.4
20mitochondrial dna depletion syndrome 110.4
21hypogonadism10.4
22tremor10.4
23progressive external ophthalmoplegia - myopathy - emaciation10.4
24optic atrophy 110.3
25optic atrophy plus syndrome10.3
26combined oxidative phosphorylation deficiency 2010.3
27hereditary sensory neuropathy10.3
28progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 210.3
29progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 310.3
30progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 410.3
31progressive external ophthalmoplegia, autosomal recessive 110.3
32progressive external ophthalmoplegia, autosomal dominant 110.3
33keratopathy10.3
34motor neuron disease10.3
35muscle disorders10.3
36foster-kennedy syndrome10.3
37pharyngitis10.3
38sensorineural hearing loss10.3
39exophthalmos10.3
40neuronitis10.3
41third-degree atrioventricular block10.3
42spiradenoma10.3
43atrioventricular block10.3
44cranial nerve disease10.3
45cranial nerve palsy10.3
46esophagitis10.3
47eye disease10.3
48globe disease10.3
49mitochondrial metabolism disease10.3
50muscle tissue disease10.3

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



Diseases related to chronic progressive external ophthalmoplegia

Symptoms for Chronic Progressive External Ophthalmoplegia

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Drugs & Therapeutics for Chronic Progressive External Ophthalmoplegia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 2, Phase 32260-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteaminium
Cysteinamine
D03634
DB00847
 
Decarboxycysteine
DivK1c_006750
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
2A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
3Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial CytopathyCompletedNCT02385565
4MRI Study - Chronic Progressive External OphthalmoplegiaRecruitingNCT02161848
5Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554
6Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
7Natural History of Pearson SyndromeEnrolling by invitationNCT02327364
8Nutritional Assessment in Mitochondrial CytopathyEnrolling by invitationNCT02375438

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 Ophthalmoplegia22 24

Anatomical Context for Chronic Progressive External Ophthalmoplegia

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MalaCards organs/tissues related to Chronic Progressive External Ophthalmoplegia:

33
Eye, Skeletal muscle, Retina, Skin, Brain, Heart

Animal Models for Chronic Progressive External Ophthalmoplegia or affiliated genes

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Publications for Chronic Progressive External Ophthalmoplegia

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Articles related to Chronic Progressive External Ophthalmoplegia:

(show top 50)    (show all 143)
idTitleAuthorsYear
1
Cardiac involvement in chronic progressive external ophthalmoplegia. (25139213)
2014
2
Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype. (25034047)
2014
3
Chronic progressive external ophthalmoplegia with inflammatory myopathy. (25674260)
2014
4
Paralytic exophthalmos in chronic progressive external ophthalmoplegia. (22504268)
2012
5
Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia. (21533826)
2011
6
A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle. (20810132)
2010
7
Morphological findings of extraocular myopathy with chronic progressive external ophthalmoplegia. (20192704)
2010
8
Chronic progressive external ophthalmoplegia with recurrent quadriparesis : an unusual presentation. (21045517)
2010
9
Cystoid macular edema in a patient with chronic progressive external ophthalmoplegia with mitochondrial myopathy. (19172512)
2009
10
Assessment of visual function in chronic progressive external ophthalmoplegia. (15920569)
2006
11
Chronic progressive external ophthalmoplegia: MR spectroscopy and MR diffusion studies in the brain. (16928952)
2006
12
Update on chronic progressive external ophthalmoplegia. (16251143)
2005
13
Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber's hereditary optic neuropathy. (15965159)
2005
14
Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. (12690061)
2003
15
The evaluation of chronic progressive external ophthalmoplegia with computerized tomography. (11998886)
2001
16
Congenital mitochondrial cytopathy and chronic progressive external ophthalmoplegia. (11511285)
2001
17
Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia. (11594340)
2001
18
A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia. (9808249)
1998
19
Mitochondrial gene defect in patients with chronic progressive external ophthalmoplegia. (11245066)
1998
20
MR of extraocular muscles in chronic progressive external ophthalmoplegia. (9432164)
1998
21
Chronic progressive external ophthalmoplegia. (9470333)
1997
22
Pregnancy in chronic progressive external ophthalmoplegia: a case report. (9259947)
1997
23
Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia. (8606699)
1996
24
Autosomal dominant chronic progressive external ophthalmoplegia: a tale of two genomes. (8957008)
1996
25
Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients. (7496174)
1995
26
Mitochondrial disease with chronic progressive external ophthalmoplegia: clinical analysis of 19 cases. (8167995)
1994
27
Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene. (7980504)
1994
28
Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia. (1542564)
1992
29
Histological, enzymatic and mitochondrial DNA studies in patients with Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia. (1646110)
1991
30
Neurogenic muscle weakness in chronic progressive external ophthalmoplegia (CPEO) (2266992)
1990
31
Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. (1965208)
1990
32
Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia. (2515390)
1989
33
Chronic progressive external ophthalmoplegia. (2486116)
1989
34
Chronic progressive external ophthalmoplegia. I. A quantitative histochemical study of skeletal muscles. (3202711)
1988
35
Treatment of ptosis in chronic progressive external ophthalmoplegia. (3580341)
1987
36
Single fiber electromyography in chronic progressive external ophthalmoplegia. (3587264)
1987
37
Partial cytochrome oxidase (aa3) deficiency in chronic progressive external ophthalmoplegia. Histochemical and biochemical studies. (2418159)
1985
38
Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO). (4058877)
1985
39
A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia. (6308177)
1983
40
Orbicularis oculi muscle in chronic progressive external ophthalmoplegia. (7387511)
1980
41
Extraocular muscle biopsy in chronic progressive external ophthalmoplegia. (554523)
1979
42
Pigment changes of the retina in chronic progressive external ophthalmoplegia (CPEO). (211791)
1978
43
Chronic progressive external ophthalmoplegia. (1182488)
1975
44
Chronic progressive external ophthalmoplegia. (4463559)
1974
45
Chronic progressive external ophthalmoplegia: association with retinal pigmentary changes and evidence in favor of ocular myopathy. (5045490)
1972
46
Chronic progressive external ophthalmoplegia and pigmentary degeneration of the retina. (5579163)
1971
47
Chronic progressive external ophthalmoplegia. A critical review. (4901421)
1969
48
Chronic progressive external ophthalmoplegia. A review and case report. (5979364)
1966
49
Chronic progressive external ophthalmoplegia. (15397506)
1949
50
Chronic Progressive External Ophthalmoplegia: Report of a Case with Necropsy. (16692796)
1928

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 pathways (with members indented)ScoreTop Affiliating Genes
19.8POLG, POLG2
2
Show member pathways
9.1MT-TI, MT-TK, MT-TL2
39.0POLG, POLG2, RRM2B

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:00426459.7C10orf2, POLG, POLG2
2mitochondrionGO:00057397.3C10orf2, MGME1, POLG, POLG2, RRM2B, SLC25A4

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1DNA-dependent DNA replicationGO:000626110.0POLG, POLG2
2cellular response to glucose stimulusGO:007133310.0C10orf2, POLG
3DNA biosynthetic processGO:00718979.8POLG, POLG2
4mitochondrial genome maintenanceGO:00000029.7MGME1, SLC25A4, TYMP
5mitochondrion organizationGO:00070059.4C10orf2, POLG2, SPG7
6DNA replicationGO:00062608.9C10orf2, POLG, POLG2, TYMP
7mitochondrial DNA replicationGO:00062648.1C10orf2, MGME1, POLG, POLG2, RRM2B

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

idNameGO IDScoreTop Affiliating Genes
1DNA-directed DNA polymerase activityGO:00038879.8POLG, POLG2

Sources for Chronic Progressive External Ophthalmoplegia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet