MCID: OPH004
MIFTS: 46

Ophthalmoplegia malady

Eye category

Summaries for Ophthalmoplegia

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64Wikipedia, 33MalaCards
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Wikipedia:64 Ophthalmoparesis or ophthalmoplegia refers to weakness (-paresis) or paralysis (-plegia) of one or more... more...

MalaCards: Ophthalmoplegia, also known as total ophthalmoplegia, is related to kearns-sayre syndrome and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4. An important gene associated with Ophthalmoplegia is C10orf2 (chromosome 10 open reading frame 2), and among its related pathways are Nucleotide Metabolism and tRNA Aminoacylation. The compounds mgcl2 and dttp have been mentioned in the context of this disorder. Related mouse phenotypes are cellular and adipose tissue.

Aliases & Classifications for Ophthalmoplegia

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye


Aliases & Descriptions:

ophthalmoplegia 8 10
total ophthalmoplegia 8 61
oculomotor paralysis 8
ophthalmoplegia nos 8


External Ids:

Disease Ontology8 DOID:539
NCIt40 C79697
MeSH35 D009886
ICD1025 H49.3

Related Diseases for Ophthalmoplegia

Sources:
17GeneCards, 18GeneDecks
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Diseases in the chronic progressive external ophthalmoplegia family:

total internal ophthalmoplegia ophthalmoplegia
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5
progressive external ophthalmoplegia with mitochondrial dna deletions 3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6
adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

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

(show top 50)    (show all 268)
idRelated DiseaseScoreTop Affiliating Genes
1kearns-sayre syndrome30.6COX5A
2progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 430.2POLG2, OA4
3mitochondrial neurogastrointestinal encephalopathy disease30.1POLG, TYMP
4spinocerebellar ataxia29.9POLG, ATXN2, C10orf2
5mitochondrial disorders29.6COX5A, RYR1
6internuclear ophthalmoplegia11.0
7autosomal dominant progressive external ophthalmoplegia10.5
8exophthalmic ophthalmoplegia10.5
9ataxia10.5
10tolosa-hunt syndrome10.5
11n syndrome10.4
12herpes zoster10.4
13say syndrome10.4
14familial visceral myopathy with external ophthalmoplegia10.4
15herpes zoster ophthalmicus10.4
16minicore myopathy with external ophthalmoplegia10.3
17autosomal recessive progressive external ophthalmoplegia10.3
18miller fisher syndrome10.3
19progressive supranuclear palsy10.3
20head injury10.2
21blindness10.2
22exophthalmos10.2
23spinal atrophy ophthalmoplegia pyramidal syndrome10.2
24systemic lupus erythematosus10.2
25cerebellar ataxia infantile with progressive external ophthalmoplegia10.2
26strabismus10.1
27thyrotoxicosis10.1
28progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 510.1
29maternally-inherited progressive external ophthalmoplegia10.1
30total internal ophthalmoplegia10.1
31horner's syndrome10.1
32sphenoid sinusitis10.1
33dominant optic atrophy10.1
34progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 310.1
35progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 210.1
36dysphagia10.1
37tremor10.1
38progressive external ophthalmoplegia with mitochondrial dna deletions 310.1
39progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 610.1
40progressive external ophthalmoplegia, autosomal dominant, 310.1
41myotonia congenita, atypical, acetazolamide-responsive10.1
42sinusitis10.1
43ophthalmoplegia - intellectual deficit - lingua scrotalis10.1
44ophthalmoplegia - myalgia - tubular aggregates10.1
45macrostomia - preauricular tags - external ophthalmoplegia10.1
46vestibular nystagmus10.1
47neurosyphilis10.1
48dissociated nystagmus10.0
49nemaline myopathy10.0
50enophthalmos10.0

Graphical network of the top 20 diseases related to Ophthalmoplegia:



Diseases related to ophthalmoplegia

Clinical Features for Ophthalmoplegia

Drugs & Therapeutics for Ophthalmoplegia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Anatomical Context for Ophthalmoplegia

Animal Models for Ophthalmoplegia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Ophthalmoplegia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538410.1C10orf2, HELLS, POLG, POLG2, TYMP, RYR1
2MP:00053759.9HELLS, ATXN2, POLG, RYR1, RRM2B

Publications for Ophthalmoplegia

Sources:
51PubMed
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Articles related to Ophthalmoplegia:

(show top 50)    (show all 823)
idTitleAuthorsYear
1
MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12. (23388406)
2013
2
Unilateral headache with bilateral internal ophthalmoplegia. (22183266)
2012
3
Lacrimal-auricular-dental-digital (LADD) syndrome with diffuse ophthalmoplegia--a new finding. (22784266)
2012
4
Subacute progressive ophthalmoplegia associated with dermatomyositis. (22527235)
2012
5
Amaurosis, ophthalmoplegia, ptosis, mydriasis and periorbital blanching following inferior alveolar nerve anaesthesia. (20577772)
2011
6
A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia. (20813205)
2011
7
Cystoid macular edema in a patient with chronic progressive external ophthalmoplegia with mitochondrial myopathy. (19172512)
2009
8
Suppression of mitochondrial DNA instability of autosomal dominant forms of progressive external ophthalmoplegia-associated ANT1 mutations in Podospora anserina. (19687137)
2009
9
Myasthenia gravis initially presenting with pseudo-internuclear ophthalmoplegia. (19533285)
2009
10
Identification of internuclear ophthalmoplegia signs in multiple sclerosis patients. Saccade test analysis. (18446308)
2008
11
Complete ophthalmoplegia: an unusual sign of bilateral paramedian midbrain-thalamic infarction. (18309144)
2008
12
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. (16682683)
2006
13
Orbital actinomycosis associated with painful ophthalmoplegia. Actinomycosis of the orbit. (16679798)
2006
14
Minor head trauma and isolated unilateral internuclear ophthalmoplegia. (17044578)
2006
15
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. (16380615)
2005
16
A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia. (15649400)
2005
17
Herpes zoster ophthalmicus, ophthalmoplegia, and trauma. (15012669)
2004
18
Bilateral internuclear ophthalmoplegia following head injury. (15884460)
2004
19
Isolated sphenoid plasmacytoma presenting as painful ophthalmoplegia. (12935990)
2003
20
Internuclear ophthalmoplegia (INO): an unusual presentation of neuropsychiatric lupus erythematosus. (12597766)
2003
21
Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD. (12207929)
2002
22
Induction of an unregulated channel by mutations in adenine nucleotide translocase suggests an explanation for human ophthalmoplegia. (12140186)
2002
23
Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions. (12094562)
2002
24
Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia. (11594340)
2001
25
Benign aqueductal cyst causing bilateral internuclear ophthalmoplegia after external ventricular drainage. Case report. (10701542)
2000
26
Unilateral internuclear ophthalmoplegia and recovery with thiamine in Wernicke syndrome. (11061354)
2000
27
Internuclear ophthalmoplegia after insecticide exposure. (11103076)
2000
28
IgG anti-GQ1b positive acute ataxia without ophthalmoplegia. (10519878)
1999
29
Clinical approach to ophthalmoplegia in renal transplant recipients differential diagnosis and case illustration. (18408279)
1998
30
Acute isolated ophthalmoplegia as a variant of Miller-Fisher syndrome. (9655138)
1998
31
A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis. (9473477)
1998
32
Neurological picture. Bilateral internuclear ophthalmoplegia in multiple sclerosis. (9408092)
1997
33
Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome-c oxidase subunits in chronic progressive external ophthalmoplegia. (8611660)
1996
34
Neoplastic meningitis presenting with ophthalmoplegia, ataxia, and areflexia (Miller-Fisher syndrome) (7733836)
1995
35
Early magnetic resonance imaging in acute traumatic internuclear ophthalmoplegia. (2234848)
1990
36
Internuclear ophthalmoplegia in acquired immunodeficiency syndrome. (2802452)
1989
37
Skeletal muscle pathology in chronic progressive external ophthalmoplegia with ragged-red fibers. (2849280)
1988
38
Iatrogenic internuclear ophthalmoplegia. (3746320)
1986
39
Myasthenic pseudo-internuclear ophthalmoplegia due to penicillamine. (6481374)
1984
40
Electroencephalographic findings in patients with chronic progressive external ophthalmoplegia. (6674247)
1983
41
'Ophthalmoplegia plus' or Kearns-Sayre syndrome? (7362499)
1980
42
Ophthalmoplegia and bulbar palsy in variant form of maple syrup urine disease. (507761)
1979
43
Extraocular muscle biopsy in chronic progressive external ophthalmoplegia. (554523)
1979
44
Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome? (889288)
1977
45
Ophthalmoplegia and dissociated nystagmus in adetalipoproteinemia. (1267635)
1976
46
Bilateral internuclear ophthalmoplegia. Association with occlusive cerebrovascular disease. (4850743)
1974
47
The orthoptic management of exophthalmic ophthalmoplegia. (5710894)
1968
48
Chronic progressive external ophthalmoplegia; report of a case with histopathologic examination of external eye muscle and skeletal muscle. (13616782)
1959
49
Thyroidectomy and thyrotropic exophthalmos (exophthalmic ophthalmoplegia) a review of 1001 thyroidectomies. (15408010)
1949
50
Exophthalmic Ophthalmoplegia (Unilateral) with PapillA9dema. (20916814)
1941

Genetic Variations for Ophthalmoplegia

Expression for genes affiliated with Ophthalmoplegia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ophthalmoplegia

Search GEO for disease gene expression data for Ophthalmoplegia.

Pathways for genes affiliated with Ophthalmoplegia

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG
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Pathways related to Ophthalmoplegia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4RRM2B, POLG
2
Hide members
10.3MT-TL2, MT-TI, MT-TK, MT-TA

Compounds for genes affiliated with Ophthalmoplegia

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB, 29IUPHAR
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Compounds related to Ophthalmoplegia according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1mgcl24510.6RYR1, POLG, HELLS
2dttp4510.6TYMP, POLG, HELLS
3cidofovir45 1111.6TYMP, POLG
4abacavir45 50 1112.6POLG2, POLG
5diethyl dithiocarbamate4510.6COX5A, POLG, POLG2
6zidovudine45 1111.6COX5A, POLG, POLG2, TYMP
7nucleoside4510.6TYMP, POLG2, POLG, HELLS
8purine45 2411.5HELLS, TYMP, RYR1
9thymidylate4510.4TYMP, POLG, HELLS
10oxygen45 2411.4COX5A, POLG, TYMP, RYR1, RRM2B, SLC25A4
11atp45 2911.4COX5A, HELLS, POLG, POLG2, TYMP, RYR1
12deoxyguanosine45 2411.4TYMP, POLG
13cyanide45 2411.4COX5A, RYR1
14doxorubicin45 50 1112.3COX5A, HELLS, TYMP, RYR1
15didanosine45 1111.3COX5A, POLG
16nevirapine45 50 1112.1POLG, COX5A

GO Terms for genes affiliated with Ophthalmoplegia

Sources:
16Gene Ontology
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Cellular components related to Ophthalmoplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:04264510.4POLG2, POLG, C10orf2

Biological processes related to Ophthalmoplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA-dependent DNA replicationGO:00626110.4POLG2, POLG
2mitochondrial DNA replicationGO:00626410.3RRM2B, POLG, C10orf2
3mitochondrial genome maintenanceGO:00000210.1SLC25A4, TYMP

Molecular functions related to Ophthalmoplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:00202010.4RYR1, POLG, C10orf2

Products for genes affiliated with Ophthalmoplegia

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Sources for Ophthalmoplegia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet