MCID: CHR095
MIFTS: 42

Chronic Progressive External Ophthalmoplegia malady

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

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 22 23 12 65
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
ICD1027 H49.4
ICD9CM29 378.72
MeSH36 D017246
UMLS65 C0162674

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 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2. 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 Nucleotide Metabolism. Affiliated tissues include eye, skeletal muscle and breast.

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 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:68 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 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

Diseases related to Chronic Progressive External Ophthalmoplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 154)
idRelated DiseaseScoreTop Affiliating Genes
1adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy12.7
2progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 211.8
3progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 311.8
4progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 411.8
5progressive external ophthalmoplegia, autosomal recessive 111.8
6progressive external ophthalmoplegia, autosomal dominant 111.8
7kearns-sayre syndrome11.6
8ocular muscular dystrophy11.6
9maternally-inherited progressive external ophthalmoplegia11.6
10progressive external ophthalmoplegia-myopathy-emaciation syndrome11.4
11hepatitis10.5
12prostatitis10.5
13pyelonephritis10.3
14xanthogranulomatous pyelonephritis10.3
15colorectal cancer10.3
16hepatocellular carcinoma10.3
17obesity10.3
18arthritis10.3
19hepatitis c10.3
20cervicitis10.3
21adenocarcinoma10.3
22cerebritis10.3
23neuronitis10.3
24encephalitis10.3
25aneurysm10.3
26autoimmune addison disease10.2C10orf2, POLG
27prickle1-related progressive myoclonus epilepsy with ataxia10.2C10orf2, POLG
28rheumatoid arthritis10.2
29neuroblastoma10.2
30prostate cancer10.2
31breast cancer10.2
32hepatitis c virus10.2
33osteoporosis10.2
34tetralogy of fallot10.2
35burkitt lymphoma10.2
36genitopatellar syndrome10.2
37otitis media10.2
38sickle cell anemia10.2
39nasopharyngeal carcinoma10.2
40pityriasis rubra pilaris10.2
41ornithine transcarbamylase deficiency10.2
42norrie disease10.2
43duchenne muscular dystrophy10.2
44deficiency anemia10.2
45atherosclerosis10.2
46brain ischemia10.2
47cerebral palsy10.2
48glycogen storage disease10.2
49keloids10.2
50leukemia10.2

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 32360-23-16058
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
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

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Genetic tests related to Chronic Progressive External Ophthalmoplegia:

id Genetic test Affiliating Genes
1 Progressive External Ophthalmoplegia22

Anatomical Context for Chronic Progressive External Ophthalmoplegia

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MalaCards organs/tissues related to Chronic Progressive External Ophthalmoplegia:

33
Eye, Skeletal muscle, Breast, Endothelial, Lung, Myeloid, Prostate

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
Ormond's Disease--IgG4-related Disease. (26445389)
2015
2
An epidemiological analysis of paediatric burns in urban and rural areas in south central China. (23747041)
2014
3
Hughes-Stovin syndrome: a rare and often overlooked cause of hemoptysis and pulmonary artery aneurysms. (24590472)
2014
4
Enhanced activity of Akt in Teff cells from children with lupus nephritis is associated with reduced induction of tumor necrosis factor receptor-associated factor 6 and increased OX40 expression. (23896866)
2013
5
Early planned birth may reduce neonatal sepsis compared to expectant management following preterm premature rupture of the membranes close to term. (23125240)
2013
6
Assessment of early response to treatment in extrapulmonary tuberculosis: Role of FDG-PET. (23723593)
2012
7
The thoracodorsal vessels are advantageous, reliable, and safe recipient vessels for free abdominal flap breast reconstruction. (22531411)
2012
8
Comments on "well-differentiated thyroid carcinoma with concomitant Hashimoto's thyroiditis present with less aggressive clinical stage and low recurrence". (21728067)
2011
9
A network of regulatory pathways in lepromatous leprosy. (21903479)
2011
10
Novel alternatively spliced ADAM8 isoforms contribute to the aggressive bone metastatic phenotype of lung cancer. (20453887)
2010
11
Diagnosis of iron deficiency anemia in children of Northeast Brazil. (20549021)
2010
12
Morphology of collagen fibers and elastic system fibers in actinic cheilitis. (21187617)
2010
13
Phase II study of dasatinib in patients with advanced non-small-cell lung cancer. (20855820)
2010
14
Asymptomatic bacteriuria among pregnant women referred to outpatient clinics in Sanandaj, Iran. (19111074)
2008
15
Risk factors for cardiovascular events after successful renal transplantation. (18212625)
2008
16
Isolated neutropenia during ABVD chemotherapy for Hodgkin lymphoma does not require growth factor support. (18766966)
2008
17
Mapping regulatory variants for the serotonin transporter gene based on allelic expression imbalance. (17453058)
2007
18
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome. (17142121)
2007
19
Reactivation of pulmonary tuberculosis in a patient with rheumatoid arthritis during treatment with IL-1 receptor antagonists (anakinra). (17762459)
2007
20
Epidermal growth factor receptor signaling is up-regulated in human colonic aberrant crypt foci. (16740703)
2006
21
Adenovirus infection within stromal cells in a pediatric small bowel allograft. (16944984)
2006
22
Deletion polymorphism of UDP-glucuronosyltransferase 2B17 and risk of prostate cancer in African American and Caucasian men. (16896035)
2006
23
Comparison of the dexamethasone-suppressed corticotropin-releasing hormone test and low-dose dexamethasone suppression test in the diagnosis of Cushing's syndrome. (16670165)
2006
24
Glucocorticoid-induced apoptosis and glucocorticoid resistance: molecular mechanisms and clinical relevance. (15243581)
2004
25
Effects of cytochrome b(5) on drug oxidation activities of human cytochrome P450 (CYP) 3As: similarity of CYP3A5 with CYP3A4 but not CYP3A7. (14637191)
2003
26
Molecular disruption of the MRN(95) complex induces radiation sensitivity in head and neck cancer. (12972939)
2003
27
Helicobacter pylori infection interferes with epithelial Stat6-mediated interleukin-4 signal transduction independent of cagA, cagE, or VacA. (12902508)
2003
28
The neurohormonal natural history of essential hypertension: towards primary or tertiary aldosteronism? (11791020)
2002
29
Translocation t(9;22) (p23;q11) in atypical chronic myeloid leukemia (aCML) presenting osteolytic lesions. (12463598)
2002
30
Attenuation of intracerebral hemorrhage and thrombin-induced brain edema by overexpression of interleukin-1 receptor antagonist. (11596963)
2001
31
Mechanism of regulation of the Epac family of cAMP-dependent RapGEFs. (10777494)
2000
32
Changes in cortisol/DHEA ratio in HIV-infected men are related to immunological and metabolic perturbations leading to malnutrition and lipodystrophy. (11268428)
2000
33
Interaction of cystatin C variants with papain and human cathepsins B, H and L. (10445041)
1999
34
The phospholipase C inhibitor U73122 increases cytosolic calcium in MDCK cells by activating calcium influx and releasing stored calcium. (9734709)
1998
35
Endothelial cell markers and fibrinopeptide A to D-dimer ratio as a measure of coagulation and fibrinolysis balance in normal pregnancy. (9692335)
1998
36
The amino-terminal domains of Epstein-Barr virus nuclear proteins 3A, 3B, and 3C interact with RBPJ(kappa). (8627785)
1996
37
Identification of in vivo phosphorylation sites of SET, a nuclear phosphoprotein encoded by the translocation breakpoint in acute undifferentiated leukemia. (8131851)
1994
38
Gonadal function in Smith-Lemli-Opitz syndrome. (8418647)
1993
39
Effect of cigarette smoking on cultured human endothelial cells. (8394208)
1993
40
Corticotropin releasing hormone-binding protein (CRH-BP): plasma levels decrease during the third trimester of normal human pregnancy. (8421097)
1993
41
Luteinizing hormone-releasing hormone analogue (Buserelin) treatment for central precocious puberty: a multi-centre trial. (2109996)
1990
42
Ketanserin: a novel cardiovascular drug. (2130934)
1990
43
Refractory anemia in the elderly. (3548248)
1987
44
Two cases of infantile porphyria cutanea tarda: successful treatment with oral S-adenosyl-L-methionine and low-dose oral chloroquine. (3567077)
1987
45
Polyembryoma of ovary producing alpha-fetoprotein and HCG: immunoperoxidase and electron microscopic study. (6176314)
1982
46
Normocalcemic pseudohypoparathyroidism (Type II). (6281182)
1981
47
Central giant-cell reparative granuloma. Report of a case. (5255356)
1969
48
CHRONIC PERICARDIAL EFFUSION COMPLICATING ENDOMYOCARDIAL FIBROSIS. (14051542)
1963
49
Psychologic studies before and after clitoridectomy in female pseudohermaphroditism caused by congenital virilizing adrenal hyperplasia. (13542129)
1958
50
Studies on the serologic diagnosis of murine typhus and Rocky Mountain spotted fever. II. Human infections. (13491850)
1957

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
19.8POLG, POLG2
29.8POLG, POLG2

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:004264510.3POLG, POLG2
2mitochondrionGO:00057399.2POLG, SDHB, SPG7

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 replicationGO:00062609.5C10orf2, POLG, 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