MCID: OPH004
MIFTS: 53

Ophthalmoplegia malady

Genetic diseases, Eye diseases, Neuronal diseases, Rare diseases, Muscle diseases categories
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Summaries for Ophthalmoplegia

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MalaCards based summary: Ophthalmoplegia, also known as total ophthalmoplegia, is related to kearns-sayre syndrome and chronic progressive external ophthalmoplegia. 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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Ophthalmoplegia, Aliases & Descriptions:

Name: Ophthalmoplegia 8
Total Ophthalmoplegia 8 62
 
Oculomotor Paralysis 8
Ophthalmoplegia Nos 8


Classifications:



External Ids:

Disease Ontology8 DOID:539
NCIt39 C79697
MeSH34 D009886
ICD1025 H49.3

Related Diseases for Ophthalmoplegia

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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
1kearns-sayre syndrome31.2SLC25A4
2chronic progressive external ophthalmoplegia31.0C10orf2, POLG, POLG2, SLC25A4
3neuropathy30.7RYR1, POLG, C10orf2
4spinocerebellar ataxia30.1POLG, ATXN2
5cerebellar ataxia30.1ATXN2, C10orf2
6internuclear ophthalmoplegia11.0
7myopathy10.5
8autosomal dominant progressive external ophthalmoplegia10.5
9tolosa-hunt syndrome10.5
10exophthalmic ophthalmoplegia10.5
11ataxia10.5
12herpes zoster10.4
13familial visceral myopathy with external ophthalmoplegia10.4
14herpes zoster ophthalmicus10.4
15minicore myopathy with external ophthalmoplegia10.4
16progressive supranuclear palsy10.3
17miller fisher syndrome10.3
18autosomal recessive progressive external ophthalmoplegia10.3
19multiple sclerosis10.3
20meningitis10.3
21myasthenia gravis10.3
22head injury10.3
23blindness10.3
24exophthalmos10.2
25lupus erythematosus10.2
26spinal atrophy ophthalmoplegia pyramidal syndrome10.2
27systemic lupus erythematosus10.2
28exotropia10.2
29myositis10.2
30retinitis10.2
31cerebellar ataxia infantile with progressive external ophthalmoplegia10.2
32migraine10.2
33strabismus10.2
34progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 410.2
35aneurysm10.2
36lipodystrophy10.1POLG, POLG2
37sinusitis10.1
38total internal ophthalmoplegia10.1
39cerebritis10.1
40cervicitis10.1
41dementia10.1
42encephalitis10.1
43hypogonadism10.1
44optic atrophy10.1
45polyradiculoneuropathy10.1
46sphenoid sinusitis10.1
47thyrotoxicosis10.1
48mitochondrial neurogastrointestinal encephalopathy disease10.1
49distal arthrogryposis type 510.1
50progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 510.1

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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Drug clinical trials:

Search ClinicalTrials for Ophthalmoplegia

Search NIH Clinical Center for Ophthalmoplegia

Genetic Tests for Ophthalmoplegia

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Anatomical Context for Ophthalmoplegia

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MalaCards organs/tissues related to Ophthalmoplegia:

32
Eye, Skeletal muscle, B cells, Pituitary, Brain, Retina, Breast, Thyroid, Skin, Prostate, Testes, Bone, Heart, Myeloid, T cells

Animal Models for Ophthalmoplegia or affiliated genes

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MGI Mouse Phenotypes related to Ophthalmoplegia:

36
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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Articles related to Ophthalmoplegia:

(show top 50)    (show all 842)
idTitleAuthorsYear
1
Painful ophthalmoplegia: a case of tolosa-hunt syndrome. (25373075)
2014
2
Acute visual loss with ophthalmoplegia after spinal surgery: Report of a case and review of the literature. (25370405)
2014
3
Bilateral ptosis with wall-eyed bilateral internuclear ophthalmoplegia and vertical gaze paralysis. (24870222)
2014
4
Bilateral internuclear ophthalmoplegia associated with pediatric brain tumor progression: a case series and review of the literature. (24048548)
2013
5
Spheniodal mucocele causing bilateral optic neuropathy and ophthalmoplegia. (23571243)
2013
6
Acute onset of upbeat nystagmus, exotropia, and internuclear ophthalmoplegia--a tell-tale of ponto-mesencephalic infarct. (23830476)
2013
7
Pediatric internuclear ophthalmoplegia. (23470988)
2013
8
Neurological picture. Internuclear ophthalmoplegia following African tick bite fever. (21421770)
2011
9
Postural instability, frontotemporal dementia, and ophthalmoplegia: clinicopathological case. (21755535)
2011
10
Ophthalmoplegia in a patient with breast cancer. (22206067)
2011
11
Bilateral Internuclear Ophthalmoplegia in a Patient with Devic's Neuromyelitis Optica. (21113284)
2010
12
Transient internal ophthalmoplegia after inferior oblique myectomy. (20006825)
2009
13
Diplopia, blepharoptosis, and ophthalmoplegia and 3-hydroxy-3-methyl-glutaryl-CoA reductase inhibitor use. (18930555)
2008
14
Childhood steroid-responsive painful ophthalmoplegia: clues to ophthalmoplegic migraine. (17643751)
2007
15
Abducens-oculomotor synkinesis associated with internuclear ophthalmoplegia and acquired abducens nerve palsy. (16915907)
2006
16
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. (16682683)
2006
17
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. (16940310)
2006
18
Delayed internal ophthalmoplegia and amblyopia following chickenpox. (16691403)
2006
19
Assessment of visual function in chronic progressive external ophthalmoplegia. (15920569)
2006
20
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. (12825077)
2003
21
Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene. (12565915)
2003
22
The diagnostic importance of the isolated supranuclear downward gaze ophthalmoplegia in progressive supranuclear palsy. (14598066)
2003
23
Vertical ophthalmoplegia in a demented patient with striatopallidodentate calcification. (12839528)
2003
24
Bilateral spontaneous corneal perforation associated with complete external ophthalmoplegia in mitochondrial myopathy (kearns-sayre syndrome). (12658098)
2003
25
Acute ophthalmoplegia. (12648973)
2003
26
Major review: the clinical spectrum of pediatric myasthenia gravis: blepharoptosis, ophthalmoplegia and strabismus. A report of 14 cases. (12171588)
2002
27
Chronic asymmetric progressive external ophthalmoplegia with right facial weakness: a unique presentation of mitochondrial myopathy. (12082069)
2002
28
The evaluation of chronic progressive external ophthalmoplegia with computerized tomography. (11998886)
2001
29
Internuclear ophthalmoplegia with skew deviation. Two cases with an isolated circumscribed lesion of the medial longitudinal fasciculus. (11096232)
2000
30
Bilateral ophthalmoplegia and exophthalmos complicating central hemodialysis catheter placement. (10213657)
1999
31
Painful ophthalmoplegia caused by idiopathic hypertrophic cranial pachymeningitis in the cavernous sinus. (18639052)
1998
32
Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients. (7496174)
1995
33
Toxic internuclear ophthalmoplegia related to antiobesity treatment. (1477455)
1992
34
Bilateral internuclear ophthalmoplegia after smoking "crack" cocaine. (1838554)
1991
35
Neurogenic muscle weakness in chronic progressive external ophthalmoplegia (CPEO) (2266992)
1990
36
Neurological and radiological studies in painful ophthalmoplegia: Tolosa-Hunt syndrome and orbital pseudotumour. (2614488)
1989
37
Internuclear ophthalmoplegia in acquired immunodeficiency syndrome. (2802452)
1989
38
Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia. (2515390)
1989
39
Treatment of ptosis in chronic progressive external ophthalmoplegia. (3580341)
1987
40
Iatrogenic internuclear ophthalmoplegia. (3746320)
1986
41
Bilateral internuclear ophthalmoplegia due to hydrocephalus: a case report. (4069338)
1985
42
Partial cytochrome oxidase (aa3) deficiency in chronic progressive external ophthalmoplegia. Histochemical and biochemical studies. (2418159)
1985
43
Internuclear ophthalmoplegia in tuberculous meningitis. A report of two cases. (6468455)
1984
44
A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia. (6308177)
1983
45
Bilateral internuclear ophthalmoplegia reversed by naloxone. (6830474)
1983
46
Drug-induced internuclear ophthalmoplegia. (6831328)
1983
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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Expression patterns in normal tissues for genes affiliated with Ophthalmoplegia

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Pathways for genes affiliated with Ophthalmoplegia

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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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Sources:
50PharmGKB, 44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB
See all sources

Compounds related to Ophthalmoplegia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1abacavir50 44 1111.9POLG2, POLG
2lamivudine44 50 1111.8POLG, POLG2
3mgcl2449.8RYR1, POLG
4diethyl dithiocarbamate449.8POLG2, POLG
5nucleoside449.7POLG2, POLG
6zidovudine44 50 1111.6POLG, POLG2
7n-ethylmaleimide44 1110.3RYR1, POLG
8glutamine449.0RYR1, POLG, ATXN2
9atp44 289.5RYR1, SLC25A4, POLG2, POLG
10oxygen44 249.5RRM2B, POLG, SLC25A4, RYR1

GO Terms for genes affiliated with Ophthalmoplegia

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet