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

Search CenterWatch for Ophthalmoplegia

Drug clinical trials:

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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, 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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36MGI
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MGI Mouse Phenotypes related to Ophthalmoplegia:

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

Publications for Ophthalmoplegia

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50PubMed
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Articles related to Ophthalmoplegia:

(show top 50)    (show all 822)
idTitleAuthorsYear
1
Brainstem Infarction with Wall-eyed Bilateral Internuclear Ophthalmoplegia Syndrome and Vertical One-and-a-Half Syndrome. (24424330)
2014
2
RYR1 Mutations as a Cause of Ophthalmoplegia, Facial Weakness, and Malignant Hyperthermia. (24091937)
2013
3
Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia. (24086434)
2013
4
Isolated vertical ophthalmoplegia caused by bilateral rostroventral midbrain infarction. (22289967)
2012
5
Esophageal contractions in patients with chronic progressive external ophthalmoplegia. (21399928)
2011
6
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia. (21689831)
2011
7
Pseudo-internuclear ophthalmoplegia as a sign of overlapping myasthenia gravis in a patient with 'intractable' hypothyroidism. (20046005)
2010
8
A novel heteroplasmic tRNA Ser(UCN) mtDNA point mutation associated with progressive ophthalmoplegia and dysphagia. (20186009)
2010
9
Monocular ophthalmoplegia and partial supranuclear vertical gaze palsy due to unilateral paramedian rostral midbrain infarction. (19444539)
2009
10
Structure-function defects of the twinkle amino-terminal region in progressive external ophthalmoplegia. (19084593)
2009
11
Acute ophthalmoplegia (without ataxia) associated with anti-GQ1b antibody. (18678825)
2008
12
Frontalis sling operation using silicone rod for the correction of ptosis in chronic progressive external ophthalmoplegia. (18786957)
2008
13
Wall-eyed bilateral internuclear ophthalmoplegia from lesions at different levels in the brainstem. (17414866)
2007
14
MRI findings of rapidly progressive ophthalmoplegia and blindness in mucormycosis. (16717200)
2006
15
T-cell lymphoma presenting as painful ophthalmoplegia. (17004636)
2006
16
Jerky seesaw nystagmus in isolated internuclear ophthalmoplegia from focal pontine lesion. (15824379)
2005
17
Blindness and total ophthalmoplegia after aesthetic polymethylmethacrylate injection: case report. (15476086)
2004
18
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. (15258572)
2004
19
Central retinal artery occlusion and ophthalmoplegia following spinal surgery. (15377566)
2004
20
Neuroanatomic evidence to explain why bilateral internuclear ophthalmoplegia may result from occlusion of a unilateral pontine branch artery. (15206438)
2004
21
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). (12707443)
2003
22
Dural arteriovenous malformation in the petrosal sinus presenting as acute visual loss and total ophthalmoplegia. (12855976)
2003
23
Chronic asymmetric progressive external ophthalmoplegia with right facial weakness: a unique presentation of mitochondrial myopathy. (12082069)
2002
24
Prognosis of ischemic internuclear ophthalmoplegia. (12208716)
2002
25
Primary isolated brainstem injury producing internuclear ophthalmoplegia. (11708549)
2001
26
Three patients with ophthalmoplegia associated with Campylobacter jejuni. (11483401)
2001
27
ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. (11756592)
2001
28
Temporary uniocular blindness and ophthalmoplegia associated with a mandibular block injection. A case report. (10925510)
2000
29
So-called posterior internuclear ophthalmoplegia due to a pontine glioma: a clinicopathological study. (10399878)
1999
30
MR of extraocular muscles in chronic progressive external ophthalmoplegia. (9432164)
1998
31
Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study. (9851061)
1998
32
Mitochondrial DNA defects in Brazilian patients with chronic progressive external ophthalmoplegia. (9415537)
1997
33
Multifocal motor neuropathy presenting as ophthalmoplegia. (9052814)
1997
34
Familial mitochondrial encephalomyopathy with deaf-mutism, ophthalmoplegia and leukodystrophy. (7572054)
1995
35
Steroid-responsive painful ophthalmoplegia in childhood: sphenoid sinusitis presenting as Tolosa-Hunt syndrome. (1957978)
1991
36
Internuclear ophthalmoplegia in giant cell arteritis. (2754673)
1989
37
Internuclear ophthalmoplegia: MR-anatomic correlation. (3105283)
1987
38
Unilateral internuclear ophthalmoplegia after head trauma. (3963114)
1986
39
Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome. (6493699)
1984
40
A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia. (6308177)
1983
41
Unilateral internuclear ophthalmoplegia. The lack of inhibitory involvement in medial rectus muscle activity. (7287348)
1981
42
Internuclear ophthalmoplegia: recovery and plasticity. (7440105)
1980
43
Orbicularis oculi muscle in chronic progressive external ophthalmoplegia. (7387511)
1980
44
Internuclear ophthalmoplegia and associated abnormalities in eye motion timing (differential delays). (1167637)
1975
45
Chronic progressive external ophthalmoplegia and pigmentary degeneration of the retina. (5579163)
1971
46
Aeromedical consultation service case report: uniocular oscillopsia associated with internuclear ophthalmoplegia. (5099869)
1971
47
Spongiform encephalopathy with chronic progressive external ophthalmoplegia. Central ophthalmoplegia mimicking ocular myopathy. (5948507)
1966
48
Discrete carcinomatous metastases in the extrinsic ocular muscles. A case of carcinoma of the breast with exophthalmic ophthalmoplegia. (13798189)
1960
49
Retinitis pigmentosa, ophthalmoplegia, and spastic quadriplegia. (13394671)
1957
50
Hyaluronidase in the treatment of exophthalmic ophthalmoplegia. (13252913)
1955

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
1mgcl24410.6RYR1, POLG, HELLS
2dttp4410.6TYMP, POLG, HELLS
3cidofovir44 1111.6TYMP, POLG
4abacavir44 49 1112.6POLG2, POLG
5diethyl dithiocarbamate4410.6COX5A, POLG, POLG2
6zidovudine44 1111.6COX5A, POLG, POLG2, TYMP
7nucleoside4410.6TYMP, POLG2, POLG, HELLS
8purine44 2411.5HELLS, TYMP, RYR1
9thymidylate4410.4TYMP, POLG, HELLS
10oxygen44 2411.4COX5A, POLG, TYMP, RYR1, RRM2B, SLC25A4
11atp44 2811.4COX5A, HELLS, POLG, POLG2, TYMP, RYR1
12deoxyguanosine44 2411.4TYMP, POLG
13cyanide44 2411.4COX5A, RYR1
14doxorubicin44 49 1112.3COX5A, HELLS, TYMP, RYR1
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