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 47 24 25 13 67
Progressive External Ophthalmoplegia 11 47 24 25 26 49
Cpeo 47 24 25
 
Peo 24 25
Ophthalmoplegia, Chronic Progressive External 38

Classifications:



External Ids:

Disease Ontology11 DOID:12558
ICD1029 H49.4
ICD9CM31 378.72
MeSH38 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.

Wikipedia:70 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 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
╬▓-MEA
╬▓-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 Ophthalmoplegia26 24

Anatomical Context for Chronic Progressive External Ophthalmoplegia

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MalaCards organs/tissues related to Chronic Progressive External Ophthalmoplegia:

35
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 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
Pharyngeal transit in patients with chronic progressive external ophthalmoplegia. (25142449)
2014
4
Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia. (24086434)
2013
5
The mutations m.5628T>C and m.8348A>G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia. (22743145)
2012
6
Diagnostic investigations of patients with chronic progressive external ophthalmoplegia. (23024221)
2012
7
A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO). (20149659)
2010
8
The management of strabismus in patients with chronic progressive external ophthalmoplegia. (20521878)
2010
9
Chronic progressive external ophthalmoplegia: a report of 6 cases and a review of the literature. (17215725)
2007
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
Surgical treatment of blepharoptosis caused by chronic progressive external ophthalmoplegia. (16557081)
2006
13
Update on chronic progressive external ophthalmoplegia. (16251143)
2005
14
Ocular motility findings in chronic progressive external ophthalmoplegia. (15272295)
2005
15
Mitochondrial myopathy with chronic progressive external ophthalmoplegia. (12140885)
2002
16
Impaired glucose effectiveness in chronic progressive external ophthalmoplegia. (12037739)
2002
17
Congenital mitochondrial cytopathy and chronic progressive external ophthalmoplegia. (11511285)
2001
18
Chronic exposure keratopathy complicating surgical correction of ptosis in patients with chronic progressive external ophthalmoplegia. (11024427)
2000
19
A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia. (9808249)
1998
20
Mitochondrial gene defect in patients with chronic progressive external ophthalmoplegia. (11245066)
1998
21
MR of extraocular muscles in chronic progressive external ophthalmoplegia. (9432164)
1998
22
Surgical management of strabismus associated with chronic progressive external ophthalmoplegia. (9111265)
1997
23
Are mitochondrial DNA deletions causative in chronic progressive external ophthalmoplegia patients? (18638949)
1997
24
Mitochondrial DNA defects in Brazilian patients with chronic progressive external ophthalmoplegia. (9415537)
1997
25
Strabismus and mitochondrial defects in chronic progressive external ophthalmoplegia. (9186130)
1997
26
Cardiac dysfunction in patients with chronic progressive external ophthalmoplegia. (9068909)
1997
27
Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia. (8606699)
1996
28
Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome-c oxidase subunits in chronic progressive external ophthalmoplegia. (8611660)
1996
29
Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients. (7496174)
1995
30
Oxygraphic evaluation of mitochondrial function in digitonin-permeabilized mononuclear cells and cultured skin fibroblasts of patients with chronic progressive external ophthalmoplegia. (8581354)
1995
31
Mitochondrial disease with chronic progressive external ophthalmoplegia: clinical analysis of 19 cases. (8167995)
1994
32
A case of chronic progressive external ophthalmoplegia associated with familial hypercholesterolemia]. (1628435)
1992
33
Chronic progressive external ophthalmoplegia. (2486116)
1989
34
Chronic progressive external ophthalmoplegia. I. A quantitative histochemical study of skeletal muscles. (3202711)
1988
35
Skeletal muscle pathology in chronic progressive external ophthalmoplegia with ragged-red fibers. (2849280)
1988
36
Management of ptosis in chronic progressive external ophthalmoplegia. (3154593)
1987
37
A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia. (6308177)
1983
38
Chronic progressive external ophthalmoplegia. Clinical, electrophysiological, histochemical and ultrastructural studies of 14 cases. (6298931)
1982
39
The cardiac involvement in chronic progressive external ophthalmoplegia: consideration on the Kearns-Sayre syndrome. (6910351)
1981
40
Extraocular muscle biopsy in chronic progressive external ophthalmoplegia. (554523)
1979
41
Case reports of two variants of chronic progressive external ophthalmoplegia. (298726)
1979
42
Chronic progressive external ophthalmoplegia with severe cardiac dysrhythmia: the value of early recognition and cardiac pacing. (863678)
1977
43
Chronic progressive external ophthalmoplegia in a heredo-ataxia: neurogenic or myogenic? A clinical, neuropathological and submicroscopic study. (605773)
1977
44
Chronic progressive external ophthalmoplegia, pigmentary retinopathy, and heart block (Kearns-Sayre syndrome). Report of a case. (1242281)
1975
45
Chronic progressive external ophthalmoplegia. (4463559)
1974
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. (13123569)
1954
50
Chronic progressive external ophthalmoplegia. (15397506)
1949

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
1mitochondrial genome maintenanceGO:000000210.1SLC25A4, TYMP
2DNA-dependent DNA replicationGO:000626110.0POLG, POLG2
3DNA biosynthetic processGO:00718979.8POLG, POLG2
4mitochondrion organizationGO:00070059.2POLG2, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet