MCID: OPH004
MIFTS: 52

Ophthalmoplegia malady

Eye diseases category

Summaries for Ophthalmoplegia

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63Wikipedia, 32MalaCards
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Wikipedia:63 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 chronic progressive external ophthalmoplegia and myopathy. 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. Affiliated tissues include eye, skeletal muscle and pituitary, and related mouse phenotypes are cellular and adipose tissue.

Aliases & Classifications for Ophthalmoplegia

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8Disease Ontology, 10DISEASES, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 25ICD10
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Classifications:

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


Aliases & Descriptions:

ophthalmoplegia 8 10
total ophthalmoplegia 8 60
oculomotor paralysis 8
ophthalmoplegia nos 8


External Ids:

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

Related Diseases for Ophthalmoplegia

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17GeneCards, 18GeneDecks
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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 295)
idRelated DiseaseScoreTop Affiliating Genes
1chronic progressive external ophthalmoplegia31.3C10orf2, MRPL43, SLC25A4, RRM2B, TYMP, POLG2
2myopathy30.7COX5A, POLG, RYR1
3kearns-sayre syndrome30.6COX5A
4neuropathy30.6RYR1, POLG, C10orf2
5progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 430.2POLG2, OA4
6mitochondrial neurogastrointestinal encephalopathy disease30.1POLG, TYMP
7hypogonadism30.0POLG
8polyneuropathy30.0POLG
9spinocerebellar ataxia29.8POLG, ATXN2, C10orf2
10mitochondrial disorders29.8RYR1, COX5A
11cerebellar ataxia29.8ATXN2, C10orf2
12motor neuron disease29.6RYR1, COX5A
13lactic acidosis29.6POLG, COX5A
14internuclear ophthalmoplegia11.0
15exophthalmic ophthalmoplegia10.5
16tolosa-hunt syndrome10.5
17herpes zoster10.4
18familial visceral myopathy with external ophthalmoplegia10.3
19minicore myopathy with external ophthalmoplegia10.3
20miller fisher syndrome10.3
21progressive supranuclear palsy10.3
22meningitis10.2
23multiple sclerosis10.2
24autosomal recessive progressive external ophthalmoplegia10.2
25myasthenia gravis10.2
26exophthalmos10.2
27lupus erythematosus10.2
28spinal atrophy ophthalmoplegia pyramidal syndrome10.2
29autosomal dominant progressive external ophthalmoplegia10.2
30systemic lupus erythematosus10.1
31exotropia10.1
32retinitis10.1
33cerebellar ataxia infantile with progressive external ophthalmoplegia10.1
34migraine10.1
35myositis10.1
36optic atrophy10.1
37strabismus10.1
38progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 510.1
39maternally-inherited progressive external ophthalmoplegia10.1
40dissociated nystagmus10.1
41total internal ophthalmoplegia10.1
42cerebritis10.1
43cervicitis10.1
44dementia10.1
45encephalitis10.1
46polyradiculoneuropathy10.1
47sphenoid sinusitis10.1
48thyrotoxicosis10.1
49progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 310.1
50progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 210.1

Graphical network of the top 20 diseases related to Ophthalmoplegia:



Diseases related to ophthalmoplegia

Clinical Features for Ophthalmoplegia

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Drugs & Therapeutics for Ophthalmoplegia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Ophthalmoplegia

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Genetic Tests for Ophthalmoplegia

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Anatomical Context for Ophthalmoplegia

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32MalaCards
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MalaCards organs/tissues related to Ophthalmoplegia:

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

Animal Models for Ophthalmoplegia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Ophthalmoplegia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538410.1C10orf2, HELLS, POLG, POLG2, TYMP, RYR1
2MP:00053759.9HELLS, ATXN2, POLG, RYR1, RRM2B

Publications for Ophthalmoplegia

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50PubMed
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Articles related to Ophthalmoplegia:

(show top 50)    (show all 822)
idTitleAuthorsYear
1
Motion diplopia in an isolated unilateral internuclear ophthalmoplegia: a new neurological symptom? (22790327)
2013
2
Recovery from ophthalmoplegia and proptosis after repair of bilateral carotid-cavernous sinus fistulas. (24322514)
2013
3
Complications of vision loss and ophthalmoplegia during endoscopic sinus surgery. (23658475)
2013
4
Neurological picture. Internuclear ophthalmoplegia following African tick bite fever. (21421770)
2011
5
MRI of the eye muscles in a case of ophthalmoplegia caused by common carotid artery occlusion suggests ischemic myopathy. (20934191)
2011
6
Adult-onset migraine-related ophthalmoplegia and omolateral fetal-type posterior cerebral artery. (22674608)
2011
7
Ophthalmoplegia secondary to herpes zoster ophthalmicus. (22798518)
2010
8
Novel POLG1 mutations in a patient with adult-onset progressive external ophthalmoplegia and encephalopathy. (22778364)
2010
9
Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations. (19566497)
2009
10
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. (18971204)
2009
11
The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia. (19285865)
2009
12
Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA. (18603265)
2008
13
Botulinum toxin in the management of internuclear ophthalmoplegia. (17498988)
2007
14
Isolated bilateral internuclear ophthalmoplegia after ischemic stroke. (17548998)
2007
15
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. (17420318)
2007
16
Ocular motility findings in chronic progressive external ophthalmoplegia. (15272295)
2005
17
Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis. (15795893)
2005
18
Bilateral internuclear ophthalmoplegia in progressive supranuclear palsy with an overriding oculocephalic maneuver. (15858806)
2005
19
Sensorineural hearing loss in patients with chronic progressive external ophthalmoplegia or Kearns-Sayre syndrome. (15827867)
2005
20
Ophthalmoplegia in Powassan encephalitis. (12771287)
2003
21
Vestibular perception in patients with acquired ophthalmoplegia. (12821750)
2003
22
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. (12975295)
2003
23
Ophthalmoplegia and ptosis as onset symptoms of an isolated primary mucocele of the sphenoid sinus. (12465018)
2002
24
Internal ophthalmoplegia with anti-GQ1b IgG antibody. (12532942)
2002
25
Sphenoid sinus mucocoele presenting as complete ophthalmoplegia. (11437585)
2001
26
Internal ophthalmoplegia as a presenting sign of herpes zoster ophthalmicus. (11306868)
2001
27
Brainstem involvement in a child with ophthalmoplegia, ataxia, areflexia syndrome. (9492097)
1998
28
Ophthalmoplegia in treated polymyalgia rheumatica and healed giant cell arteritis. (10623946)
1998
29
Nemaline myopathy with severe neonatal hypotonia and total ophthalmoplegia: a case report. (9627881)
1998
30
Pregnancy in chronic progressive external ophthalmoplegia: a case report. (9259947)
1997
31
Autosomal dominant chronic progressive external ophthalmoplegia: a tale of two genomes. (8957008)
1996
32
Oxygraphic evaluation of mitochondrial function in digitonin-permeabilized mononuclear cells and cultured skin fibroblasts of patients with chronic progressive external ophthalmoplegia. (8581354)
1995
33
Histological, enzymatic and mitochondrial DNA studies in patients with Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia. (1646110)
1991
34
Magnetic resonance imaging correlates of internuclear ophthalmoplegia. (2265923)
1990
35
Lithium-induced internuclear ophthalmoplegia. (2501030)
1989
36
The localization of the lesion in patients with acute ophthalmoplegia, ataxia and areflexia (Miller Fisher syndrome). A serial multimodal neurophysiological study. (2835120)
1988
37
Bilateral internuclear ophthalmoplegia due to hydrocephalus: a case report. (4069338)
1985
38
Internuclear ophthalmoplegia, prenuclear paresis of contralateral superior rectus, and bilateral ptosis. (6197515)
1983
39
Internuclear ophthalmoplegia after head trauma. (7258960)
1981
40
Unilateral internuclear ophthalmoplegia due to angiographic embolism through a primitive trigeminal artery. (7195492)
1981
41
Disordered inhibition in internuclear ophthalmoplegia: analysis of eye movement recordings with computer simulations. (7363056)
1980
42
Chronic progressive external ophthalmoplegia, pigmentary retinopathy, and heart block (Kearns-Sayre syndrome). Report of a case. (1242281)
1975
43
Letter: Unilateral internuclear ophthalmoplegia in systemic lupus erythematosus. (1137517)
1975
44
Abducting nystagmus in the medial longitudinal fasciculus (MLF) syndrome (internuclear ophthalmoplegia (INO)). (4718627)
1973
45
Unilateral internuclear ophthalmoplegia. Report of a case including pathology. (5937495)
1966
46
Exophthalmic ophthalmoplegia. (14477051)
1962
47
Cortisone and ACTH in exophthalmic ophthalmoplegia. (14918443)
1952
48
A case of internuclear ophthalmoplegia (bielschowsky) with autopsy. (14846685)
1951
49
Chronic progressive external ophthalmoplegia. (15397506)
1949
50
Case of Total Unilateral Ophthalmoplegia with Foot-Drop. (19983803)
1924

Genetic Variations for Ophthalmoplegia

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Expression for genes affiliated with Ophthalmoplegia

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1BioGPS, 15Gene 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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37NCBI BioSystems Database, 53Reactome, 29KEGG
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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

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44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB, 28IUPHAR
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Compounds related to Ophthalmoplegia according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1mgcl24410.6HELLS, POLG, RYR1
2dttp4410.6TYMP, POLG, HELLS
3cidofovir44 1111.6POLG, TYMP
4abacavir44 49 1112.6POLG2, POLG
5diethyl dithiocarbamate4410.6POLG2, POLG, COX5A
6zidovudine44 1111.6TYMP, POLG2, COX5A, POLG
7nucleoside4410.6TYMP, HELLS, POLG, POLG2
8purine44 2411.5TYMP, HELLS, RYR1
9thymidylate4410.4TYMP, HELLS, POLG
10oxygen44 2411.4COX5A, POLG, TYMP, RYR1, RRM2B, SLC25A4
11atp44 2811.4SLC25A4, COX5A, HELLS, POLG, POLG2, TYMP
12deoxyguanosine44 2411.4POLG, TYMP
13cyanide44 2411.4COX5A, RYR1
14doxorubicin44 49 1112.3RYR1, TYMP, HELLS, COX5A
15didanosine44 1111.3COX5A, POLG
16nevirapine44 49 1112.1POLG, COX5A

GO Terms for genes affiliated with Ophthalmoplegia

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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

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet