MCID: CHR095
MIFTS: 48

Chronic Progressive External Ophthalmoplegia malady

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

Aliases & Classifications for Chronic Progressive External Ophthalmoplegia

About this section

Aliases & Descriptions for Chronic Progressive External Ophthalmoplegia:

Name: Chronic Progressive External Ophthalmoplegia 11 46 23 24 13 66
Progressive External Ophthalmoplegia 11 46 23 24 25 48
Cpeo 46 23 24
Maternally-Inherited Chronic Progressive External Ophthalmoplegia 46 52
 
Maternally-Inherited Progressive External Ophthalmoplegia 46 52
Maternally-Inherited Cpeo 46 52
Peo 23 24
Ophthalmoplegia, Chronic Progressive External 37

Characteristics:

Orphanet epidemiological data:

52
maternally-inherited chronic progressive external ophthalmoplegia:
Inheritance: Mitochondrial inheritance,Not applicable; Age of onset: Adolescent,Adult; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:12558
ICD1028 H49.4
ICD9CM30 378.72
MeSH37 D017246
Orphanet52 ORPHA663
ICD10 via Orphanet29 H49.4

Summaries for Chronic Progressive External Ophthalmoplegia

About this section
NIH Rare Diseases:46 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 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 MT-TL2 (Mitochondrially Encoded TRNA Leucine 2 (CUN)), and among its related pathways are Nucleotide Metabolism and tRNA Aminoacylation. Affiliated tissues include eye, skeletal muscle and retina.

Genetics Home Reference:24 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).

Wikipedia:69 Chronic progressive external ophthalmoplegia (CPEO), also known as progressive external ophthalmoplegia... more...

Related Diseases for Chronic Progressive External Ophthalmoplegia

About this section

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 top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1kearns-sayre syndrome11.6
2mitochondrial dna depletion syndrome 1111.3
3progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 211.2
4progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 211.2
5progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 311.2
6progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 411.2
7progressive external ophthalmoplegia, autosomal recessive 111.2
8progressive external ophthalmoplegia, autosomal dominant 111.2
9ocular muscular dystrophy11.2
10prop1-related combined pituitary hormone deficiency10.6C10orf2, POLG
11mental retardation, obesity, mandibular prognathism, and eye and skin anomalies10.6MT-TK, MT-TL1
12mesp2-related spondylocostal dysostosis, autosomal recessive10.6MT-TK, MT-TL1
13deafness, autosomal dominant 3010.6C10orf2, POLG
14perrault syndrome 510.4C10orf2, SLC25A4
15myopathy10.3
16intestinal volvulus10.3MT-TK, TYMP
17hallucinogen abuse10.3C10orf2, POLG
18multiple epiphyseal dysplasia, autosomal dominant10.3POLG, TYMP
19ptosis10.3
20adenylosuccinase deficiency10.1MT-ND4, MT-TS1
21cranial pseudosarcomatous fasciitis10.1C10orf2, POLG, SLC25A4
22childhood electroclinical syndrome10.1MT-ND4, MT-TK
23megalencephalic leukoencephalopathy with subcortical cysts10.1MT-TK, POLG, TYMP
24mitochondrial complex iv deficiency10.1MT-TL1, MT-TN, MT-TS1
25strabismus10.1
26neuropathy10.1
27colorectal adenocarcinoma10.0C10orf2, MT-ND4, POLG
28huntington disease9.9
29keratopathy9.9
30motor neuron disease9.9
31atrioventricular block9.9
32third-degree atrioventricular block9.9
33sensorineural hearing loss9.9
34esophagitis9.9
35pharyngitis9.9
36retinitis9.9
37neuronitis9.9
38exophthalmos9.9
39ataxia9.9
40encephalopathy9.9
41charcot-marie-tooth disease type 2t9.9POLG, RRM2B, TYMP
42childhood cerebral astrocytoma9.8MT-ND5, MT-TK
43sparganosis9.8MT-ND5, MT-TL1
44placental insufficiency9.7MT-TL1, TYMP
45mucopolysaccharidosis9.6C10orf2, MT-TK, POLG, SLC25A4, TYMP
46noninfectious dermatoses of eyelid9.5MT-ND4, MT-ND5, MT-TK
47autosomal recessive myosclerosis myopathy9.5C10orf2, POLG, POLG2, RRM2B, SLC25A4
48enchondroma9.4MT-ND5, TYMP
49clubfoot9.4MT-ND4, MT-ND5, POLG
50mitochondrial recessive ataxia syndrome9.3C10orf2, DGUOK, POLG, POLG2, TYMP

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

About this section

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

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CysteaminePhase 2, Phase 32660-23-16058
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
3MRI Study - Chronic Progressive External OphthalmoplegiaCompletedNCT02161848
4Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial CytopathyCompletedNCT02385565
5Nutritional Assessment in Mitochondrial CytopathyCompletedNCT02375438
6Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554
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

About this section

Genetic tests related to Chronic Progressive External Ophthalmoplegia:

id Genetic test Affiliating Genes
1 Progressive External Ophthalmoplegia25 23

Anatomical Context for Chronic Progressive External Ophthalmoplegia

About this section

MalaCards organs/tissues related to Chronic Progressive External Ophthalmoplegia:

34
Eye, Skeletal muscle, Retina, Skin, Brain, Heart

Animal Models for Chronic Progressive External Ophthalmoplegia or affiliated genes

About this section

Publications for Chronic Progressive External Ophthalmoplegia

About this section

Articles related to Chronic Progressive External Ophthalmoplegia:

(show top 50)    (show all 149)
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

About this section

Expression for genes affiliated with Chronic Progressive External Ophthalmoplegia

About this section
Search GEO for disease gene expression data for Chronic Progressive External Ophthalmoplegia.

Pathways for genes affiliated with Chronic Progressive External Ophthalmoplegia

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.8POLG, RRM2B
2
Show member pathways
9.0MT-TA, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TN

GO Terms for genes affiliated with Chronic Progressive External Ophthalmoplegia

About this section

Cellular components related to Chronic Progressive External Ophthalmoplegia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:004264510.0C10orf2, POLG, POLG2
2mitochondrionGO:00057397.0C10orf2, DGUOK, MT-ND4, POLG, POLG2, RRM2B

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

idNameGO IDScoreTop Affiliating Genes
1respiratory electron transport chainGO:002290410.3POLG2, SDHB
2DNA-dependent DNA replicationGO:000626110.2POLG, POLG2
3mitochondrial genome maintenanceGO:000000210.0SLC25A4, TYMP
4DNA biosynthetic processGO:00718979.9POLG, POLG2
5mitochondrion organizationGO:00070059.6C10orf2, POLG2, SPG7
6mitochondrial DNA replicationGO:00062649.3C10orf2, POLG, RRM2B

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

idNameGO IDScoreTop Affiliating Genes
1DNA-directed DNA polymerase activityGO:00038879.9POLG, POLG2
2protease bindingGO:00020209.4C10orf2, LDLR, POLG

Sources for Chronic Progressive External Ophthalmoplegia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet