MCID: OPH004
MIFTS: 53

Ophthalmoplegia malady

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

Summaries for Ophthalmoplegia

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34MalaCards
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MalaCards: Ophthalmoplegia, also known as total ophthalmoplegia, is related to chronic progressive external ophthalmoplegia and kearns-sayre syndrome. An important gene associated with Ophthalmoplegia is C10orf2 (chromosome 10 open reading frame 2), and among its related pathways are Nucleotide Metabolism and Metabolism. The compounds abacavir and lamivudine have been mentioned in the context of this disorder. Affiliated tissues include eye, skeletal muscle and b cells, and related mouse phenotypes are adipose tissue and muscle.

Aliases & Classifications for Ophthalmoplegia

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9Disease Ontology, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt, 26ICD10
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Classifications:



Aliases & Descriptions:

ophthalmoplegia 9
total ophthalmoplegia 9 63
oculomotor paralysis 9
ophthalmoplegia nos 9


External Ids:

Disease Ontology9 DOID:539
MeSH36 D009886
NCIt41 C79697
ICD1026 H49.3

Related Diseases for Ophthalmoplegia

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18GeneCards, 19GeneDecks
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Diseases in the Chronic Progressive External Ophthalmoplegia family:

Total Internal Ophthalmoplegia ophthalmoplegia

Diseases related to Ophthalmoplegia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 316)
idRelated DiseaseScoreTop Affiliating Genes
1chronic progressive external ophthalmoplegia31.3C10orf2, POLG, POLG2, SLC25A4
2kearns-sayre syndrome30.8SLC25A4
3neuropathy30.7RYR1, POLG, C10orf2
4spinocerebellar ataxia29.9POLG, ATXN2
5cerebellar ataxia29.9ATXN2, C10orf2
6internuclear ophthalmoplegia11.0
7autosomal dominant progressive external ophthalmoplegia10.5
8exophthalmic ophthalmoplegia10.5
9myopathy10.5
10ataxia10.5
11tolosa-hunt syndrome10.5
12herpes zoster10.4
13familial visceral myopathy with external ophthalmoplegia10.4
14herpes zoster ophthalmicus10.4
15minicore myopathy with external ophthalmoplegia10.3
16progressive supranuclear palsy10.3
17miller fisher syndrome10.3
18autosomal recessive progressive external ophthalmoplegia10.3
19meningitis10.3
20multiple sclerosis10.3
21myasthenia gravis10.2
22head injury10.2
23blindness10.2
24lupus erythematosus10.2
25spinal atrophy ophthalmoplegia pyramidal syndrome10.2
26progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 410.2
27exophthalmos10.2
28systemic lupus erythematosus10.2
29exotropia10.2
30retinitis10.2
31cerebellar ataxia infantile with progressive external ophthalmoplegia10.2
32migraine10.1
33myositis10.1
34strabismus10.1
35mitochondrial neurogastrointestinal encephalopathy disease10.1
36progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 510.1
37maternally-inherited progressive external ophthalmoplegia10.1
38total internal ophthalmoplegia10.1
39cerebritis10.1
40cervicitis10.1
41dementia10.1
42encephalitis10.1
43optic atrophy10.1
44polyradiculoneuropathy10.1
45sphenoid sinusitis10.1
46thyrotoxicosis10.1
47distal arthrogryposis type 510.1
48progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 310.1
49progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 210.1
50horizontal gaze palsy with progressive scoliosis10.1

Graphical network of the top 20 diseases related to Ophthalmoplegia:



Diseases related to ophthalmoplegia

Symptoms for Ophthalmoplegia

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Drugs & Therapeutics for Ophthalmoplegia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Ophthalmoplegia

Drug clinical trials:

Search ClinicalTrials for Ophthalmoplegia

Search NIH Clinical Center for Ophthalmoplegia

Search CenterWatch for Ophthalmoplegia

Genetic Tests for Ophthalmoplegia

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Anatomical Context for Ophthalmoplegia

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34MalaCards
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MalaCards organs/tissues related to Ophthalmoplegia:

34
Eye, Skeletal muscle, B cells, Pituitary, Brain, Breast, Retina, Testes, Prostate, Skin, Thyroid, Myeloid, T cells, Bone, Heart

Animal Models for Ophthalmoplegia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Ophthalmoplegia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.6ATXN2, RRM2B, POLG, RYR1
2MP:00053698.0RRM2B, POLG, SLC25A4, RYR1
3MP:00053858.0C10orf2, RRM2B, POLG, SLC25A4, RYR1
4MP:00053767.7RYR1, SLC25A4, POLG, RRM2B, ATXN2
5MP:00053847.7RYR1, SLC25A4, POLG2, POLG, RRM2B, C10orf2
6MP:00107687.6C10orf2, ATXN2, RRM2B, POLG, POLG2, RYR1

Publications for Ophthalmoplegia

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53PubMed
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Articles related to Ophthalmoplegia:

(show top 50)    (show all 814)
idTitleAuthorsYear
1
Bilateral internuclear ophthalmoplegia associated with pediatric brain tumor progression: a case series and review of the literature. (24048548)
2013
2
Spheniodal mucocele causing bilateral optic neuropathy and ophthalmoplegia. (23571243)
2013
3
Acute onset of upbeat nystagmus, exotropia, and internuclear ophthalmoplegia--a tell-tale of ponto-mesencephalic infarct. (23830476)
2013
4
Pediatric internuclear ophthalmoplegia. (23470988)
2013
5
Neurological picture. Internuclear ophthalmoplegia following African tick bite fever. (21421770)
2011
6
Postural instability, frontotemporal dementia, and ophthalmoplegia: clinicopathological case. (21755535)
2011
7
Ophthalmoplegia in a patient with breast cancer. (22206067)
2011
8
Bilateral Internuclear Ophthalmoplegia in a Patient with Devic's Neuromyelitis Optica. (21113284)
2010
9
Transient internal ophthalmoplegia after inferior oblique myectomy. (20006825)
2009
10
Diplopia, blepharoptosis, and ophthalmoplegia and 3-hydroxy-3-methyl-glutaryl-CoA reductase inhibitor use. (18930555)
2008
11
Childhood steroid-responsive painful ophthalmoplegia: clues to ophthalmoplegic migraine. (17643751)
2007
12
Abducens-oculomotor synkinesis associated with internuclear ophthalmoplegia and acquired abducens nerve palsy. (16915907)
2006
13
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. (16682683)
2006
14
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. (16940310)
2006
15
Delayed internal ophthalmoplegia and amblyopia following chickenpox. (16691403)
2006
16
Assessment of visual function in chronic progressive external ophthalmoplegia. (15920569)
2006
17
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. (12825077)
2003
18
Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene. (12565915)
2003
19
The diagnostic importance of the isolated supranuclear downward gaze ophthalmoplegia in progressive supranuclear palsy. (14598066)
2003
20
Vertical ophthalmoplegia in a demented patient with striatopallidodentate calcification. (12839528)
2003
21
Bilateral spontaneous corneal perforation associated with complete external ophthalmoplegia in mitochondrial myopathy (kearns-sayre syndrome). (12658098)
2003
22
Acute ophthalmoplegia. (12648973)
2003
23
Major review: the clinical spectrum of pediatric myasthenia gravis: blepharoptosis, ophthalmoplegia and strabismus. A report of 14 cases. (12171588)
2002
24
Chronic asymmetric progressive external ophthalmoplegia with right facial weakness: a unique presentation of mitochondrial myopathy. (12082069)
2002
25
Prognosis of ischemic internuclear ophthalmoplegia. (12208716)
2002
26
The evaluation of chronic progressive external ophthalmoplegia with computerized tomography. (11998886)
2001
27
Internuclear ophthalmoplegia with skew deviation. Two cases with an isolated circumscribed lesion of the medial longitudinal fasciculus. (11096232)
2000
28
Bilateral ophthalmoplegia and exophthalmos complicating central hemodialysis catheter placement. (10213657)
1999
29
Recurrent steroid-responsive trismus and painful ophthalmoplegia. (10540039)
1999
30
Painful ophthalmoplegia caused by idiopathic hypertrophic cranial pachymeningitis in the cavernous sinus. (18639052)
1998
31
Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients. (7496174)
1995
32
Toxic internuclear ophthalmoplegia related to antiobesity treatment. (1477455)
1992
33
Bilateral internuclear ophthalmoplegia after smoking "crack" cocaine. (1838554)
1991
34
Neurogenic muscle weakness in chronic progressive external ophthalmoplegia (CPEO) (2266992)
1990
35
Neurological and radiological studies in painful ophthalmoplegia: Tolosa-Hunt syndrome and orbital pseudotumour. (2614488)
1989
36
Internuclear ophthalmoplegia in acquired immunodeficiency syndrome. (2802452)
1989
37
Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia. (2515390)
1989
38
Treatment of ptosis in chronic progressive external ophthalmoplegia. (3580341)
1987
39
Iatrogenic internuclear ophthalmoplegia. (3746320)
1986
40
Bilateral internuclear ophthalmoplegia due to hydrocephalus: a case report. (4069338)
1985
41
Partial cytochrome oxidase (aa3) deficiency in chronic progressive external ophthalmoplegia. Histochemical and biochemical studies. (2418159)
1985
42
Internuclear ophthalmoplegia in tuberculous meningitis. A report of two cases. (6468455)
1984
43
A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia. (6308177)
1983
44
Bilateral internuclear ophthalmoplegia reversed by naloxone. (6830474)
1983
45
Drug-induced internuclear ophthalmoplegia. (6831328)
1983
46
Chronic progressive external ophthalmoplegia. (4463559)
1974
47
Chronic progressive external ophthalmoplegia: association with retinal pigmentary changes and evidence in favor of ocular myopathy. (5045490)
1972
48
Unilateral internuclear ophthalmoplegia. Report of a case including pathology. (5937495)
1966
49
Lateral gaze and convergence in internuclear ophthalmoplegia: a note on examination. (5948645)
1966
50
The surgical treatment of exophthalmic ophthalmoplegia. (13394650)
1957

Variations for Ophthalmoplegia

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Expression for genes affiliated with Ophthalmoplegia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ophthalmoplegia

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Pathways for genes affiliated with Ophthalmoplegia

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51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG
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Pathways related to Ophthalmoplegia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6POLG, RRM2B
2
Show member pathways
8.4SLC25A4, POLG2, POLG, RRM2B

Compounds for genes affiliated with Ophthalmoplegia

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52PharmGKB, 46Novoseek, 12DrugBank, 30IUPHAR, 25HMDB
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Compounds related to Ophthalmoplegia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1abacavir52 46 1211.9POLG2, POLG
2lamivudine46 52 1211.8POLG, POLG2
3mgcl2469.8RYR1, POLG
4diethyl dithiocarbamate469.8POLG2, POLG
5nucleoside469.7POLG2, POLG
6zidovudine46 52 1211.6POLG, POLG2
7n-ethylmaleimide46 1210.3RYR1, POLG
8glutamine469.0RYR1, POLG, ATXN2
9atp46 309.5RYR1, SLC25A4, POLG2, POLG
10oxygen46 259.5RRM2B, POLG, SLC25A4, RYR1

GO Terms for genes affiliated with Ophthalmoplegia

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17Gene Ontology
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Cellular components related to Ophthalmoplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:0426459.3POLG2, POLG, C10orf2

Biological processes related to Ophthalmoplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA-dependent DNA replicationGO:0062619.7POLG2, POLG
2mitochondrial DNA replicationGO:0062649.2POLG, RRM2B, C10orf2
3cell deathGO:0082198.8POLG, ATXN2, C10orf2

Molecular functions related to Ophthalmoplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA-directed DNA polymerase activityGO:0038879.7POLG2, POLG
2protease bindingGO:0020208.9RYR1, POLG, C10orf2

Products for genes affiliated with Ophthalmoplegia

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Sources for Ophthalmoplegia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet