MCID: CHR095
MIFTS: 45

Chronic Progressive External Ophthalmoplegia malady

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

Aliases & Classifications for Chronic Progressive External Ophthalmoplegia

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Aliases & Descriptions for Chronic Progressive External Ophthalmoplegia:

Name: Chronic Progressive External Ophthalmoplegia 11 48 24 25 13 68
Progressive External Ophthalmoplegia 11 48 24 25 27 50
Cpeo 48 24 25
 
Peo 24 25
Ophthalmoplegia, Chronic Progressive External 39

Classifications:



External Ids:

Disease Ontology11 DOID:12558
ICD1030 H49.4
ICD9CM32 378.72
MeSH39 D017246

Summaries for Chronic Progressive External Ophthalmoplegia

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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 kearns-sayre syndrome and mitochondrial dna depletion syndrome 11, and has symptoms including ophthalmoplegia, ophthalmoplegia and photophobia. An important gene associated with Chronic Progressive External Ophthalmoplegia is POLG (DNA Polymerase Gamma, Catalytic Subunit), and among its related pathways is tRNA Aminoacylation. Affiliated tissues include eye, skeletal muscle and retina.

NIH Rare Diseases:48 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

Wikipedia:71 Chronic progressive external ophthalmoplegia (CPEO), also known as progressive external ophthalmoplegia... more...

Related Diseases for Chronic Progressive External Ophthalmoplegia

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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 43)
idRelated DiseaseScoreTop Affiliating Genes
1kearns-sayre syndrome11.5
2mitochondrial dna depletion syndrome 1111.4
3progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 211.3
4progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 311.3
5progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 411.3
6progressive external ophthalmoplegia, autosomal recessive 111.3
7progressive external ophthalmoplegia, autosomal dominant 111.3
8progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 211.1
9ocular muscular dystrophy11.1
10maternally-inherited progressive external ophthalmoplegia11.1
11optic atrophy plus syndrome10.7
12myopathy10.2
13ptosis10.2
14strabismus10.0
15neuropathy10.0
16intestinal volvulus10.0MT-TK, TYMP
17multiple epiphyseal dysplasia, autosomal dominant10.0POLG, TYMP
18charcot-marie-tooth disease type 2t9.9POLG, TYMP
19lymphoepithelioma-like carcinoma9.9MT-TK, POLG
20huntington disease9.8
21keratopathy9.8
22motor neuron disease9.8
23atrioventricular block9.8
24third-degree atrioventricular block9.8
25sensorineural hearing loss9.8
26esophagitis9.8
27pharyngitis9.8
28retinitis9.8
29neuronitis9.8
30exophthalmos9.8
31ataxia9.8
32encephalopathy9.8
33megalencephalic leukoencephalopathy with subcortical cysts9.7MT-TK, POLG, TYMP
34cranial pseudosarcomatous fasciitis9.7POLG, SLC25A4
35myoclonic epilepsy associated with ragged-red fibers9.7MT-TK, POLG, TYMP
36porencephaly9.5POLG, TYMP
37mitochondrial recessive ataxia syndrome9.3POLG, POLG2, TYMP
38mucopolysaccharidosis9.2MT-TK, POLG, SLC25A4, TYMP
39autosomal recessive myosclerosis myopathy9.2POLG, POLG2, SLC25A4
40leigh syndrome9.1MT-TI, MT-TK, POLG, POLG2
41mental retardation with spastic paraplegia8.9MT-TK, MT-TL2, POLG, SLC25A4, TYMP
42mitochondrial neurogastrointestinal encephalopathy disease8.6MT-TA, MT-TK, MT-TL2, POLG, SLC25A4, TYMP
43ulceration of vulva6.9LDLR, MT-TA, MT-TI, MT-TK, MT-TL2, POLG

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

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UMLS symptoms related to Chronic Progressive External Ophthalmoplegia:


ophthalmoplegia, photophobia, lid lag, scotoma, scintillating, ocular signs and symptoms nec, excessive eye blinking

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 32760-23-16058
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]
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
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
cysteamine bitartrate
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
3Mitochondrial nt3243 A>G Mutation in TaiwanUnknown statusNCT02114554
4MRI Study - Chronic Progressive External OphthalmoplegiaCompletedNCT02161848
5Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial CytopathyCompletedNCT02385565
6Nutritional Assessment in Mitochondrial CytopathyCompletedNCT02375438
7Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
8Natural History of Pearson SyndromeEnrolling by invitationNCT02327364

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 Ophthalmoplegia27 24

Anatomical Context for Chronic Progressive External Ophthalmoplegia

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MalaCards organs/tissues related to Chronic Progressive External Ophthalmoplegia:

36
Eye, Skeletal muscle, Retina, Skin, Brain, Heart

Publications for Chronic Progressive External Ophthalmoplegia

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Articles related to Chronic Progressive External Ophthalmoplegia:

(show top 50)    (show all 150)
idTitleAuthorsYear
1
Chronic Progressive External Ophthalmoplegia in the Absence of Ptosis. (27111092)
2016
2
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. (27014581)
2016
3
Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia. (27470685)
2016
4
Late-Onset Development of Eyelid Ptosis in Chronic Progressive External Ophthalmoplegia: A 30-Year Follow-up. (27928383)
2016
5
Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion. (27113600)
2016
6
Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging. (26689116)
2016
7
Vocal cord palsy in a case of chronic progressive external ophthalmoplegia. (26713034)
2015
8
Pharyngeal transit in patients with chronic progressive external ophthalmoplegia. (25142449)
2014
9
Cardiac involvement in chronic progressive external ophthalmoplegia. (25139213)
2014
10
Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype. (25034047)
2014
11
Chronic progressive external ophthalmoplegia with inflammatory myopathy. (25674260)
2014
12
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. (24727571)
2014
13
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
14
Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia. (24086434)
2013
15
No association between mitochondrial tRNA(Val) T1658C mutation and chronic progressive external ophthalmoplegia (CPEO). (23815321)
2013
16
Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients. (23719791)
2013
17
Chronic progressive external ophthalmoplegia coexistent with motor neuron disease in a patient with a novel large-scale mitochondrial DNA deletion. (23266267)
2013
18
The mutations m.5628T>C and m.8348A>G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia. (22743145)
2012
19
Diagnostic investigations of patients with chronic progressive external ophthalmoplegia. (23024221)
2012
20
Paralytic exophthalmos in chronic progressive external ophthalmoplegia. (22504268)
2012
21
Sleep disturbances in chronic progressive external ophthalmoplegia. (21819490)
2012
22
Chronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient. (21249588)
2011
23
Disease impact in chronic progressive external ophthalmoplegia: more than meets the eye. (21236670)
2011
24
Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia. (21533826)
2011
25
Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia. (21292040)
2011
26
Multisystem disorder in late-onset chronic progressive external ophthalmoplegia. (21156440)
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
A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia. (20884012)
2011
29
Esophageal contractions in patients with chronic progressive external ophthalmoplegia. (21399928)
2011
30
A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO). (20149659)
2010
31
The management of strabismus in patients with chronic progressive external ophthalmoplegia. (20521878)
2010
32
A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle. (20810132)
2010
33
Morphological findings of extraocular myopathy with chronic progressive external ophthalmoplegia. (20192704)
2010
34
Chronic progressive external ophthalmoplegia with recurrent quadriparesis : an unusual presentation. (21045517)
2010
35
Eye movement recordings to investigate a supranuclear component in chronic progressive external ophthalmoplegia: a cross-sectional study. (20576783)
2010
36
Cystoid macular edema in a patient with chronic progressive external ophthalmoplegia with mitochondrial myopathy. (19172512)
2009
37
Dynamic properties of eye movements in mitochondrial chronic progressive external ophthalmoplegia. (17962819)
2009
38
Frontalis suspension sling using palmaris longus tendon in chronic progressive external ophthalmoplegia. (19300161)
2009
39
Molecular analysis in a family presenting with a mild form of late- onset autosomal dominant chronic progressive external ophthalmoplegia. (19428252)
2009
40
An autopsy case of chronic progressive external ophthalmoplegia with renal insufficiency. (19107614)
2008
41
Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia. (18384291)
2008
42
Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA. (18603265)
2008
43
Frontalis sling operation using silicone rod for the correction of ptosis in chronic progressive external ophthalmoplegia. (18786957)
2008
44
Chronic progressive external ophthalmoplegia: a report of 6 cases and a review of the literature. (17215725)
2007
45
Tetracycline delays ocular motility decline in chronic progressive external ophthalmoplegia. (17404203)
2007
46
Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle. (17965958)
2007
47
Assessment of visual function in chronic progressive external ophthalmoplegia. (15920569)
2006
48
Chronic progressive external ophthalmoplegia: MR spectroscopy and MR diffusion studies in the brain. (16928952)
2006
49
Surgical treatment of blepharoptosis caused by chronic progressive external ophthalmoplegia. (16557081)
2006
50
Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia. (16639504)
2006

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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.3MT-TA, MT-TI, MT-TK, MT-TL2

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:00426459.8POLG, POLG2

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

idNameGO IDScoreTop Affiliating Genes
1DNA biosynthetic processGO:007189710.4POLG, POLG2
2DNA-dependent DNA replicationGO:000626110.4POLG, POLG2
3mitochondrial genome maintenanceGO:000000210.2SLC25A4, TYMP
4mitochondrion organizationGO:00070059.5POLG2, SPG7

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet