MCID: OPH004
MIFTS: 54

Ophthalmoplegia malady

Genetic diseases, Eye diseases, Metabolic diseases, Rare diseases, Neuronal diseases categories

Summaries for Ophthalmoplegia

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MalaCards based summary: Ophthalmoplegia, also known as total ophthalmoplegia, is related to chronic progressive external ophthalmoplegia and neuropathy. 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 brain, and related mouse phenotypes are adipose tissue and muscle.

Aliases & Classifications for Ophthalmoplegia

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Ophthalmoplegia, Aliases & Descriptions:

Name: Ophthalmoplegia 10 12
Total Ophthalmoplegia 10 62
 
Oculomotor Paralysis 10
Ophthalmoplegia Nos 10


Classifications:



External Ids:

Disease Ontology10 DOID:539
MeSH35 D009886
NCIt40 C79697
ICD1027 H49.3

Related Diseases for Ophthalmoplegia

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Diseases in the Ophthalmoplegia family:

Progressive External Ophthalmoplegia, Autosomal Dominant, 3 Progressive External Ophthalmoplegia, Autosomal Recessive
Progressive External Ophthalmoplegia, Autosomal Dominant Total Internal Ophthalmoplegia
Chronic Progressive External Ophthalmoplegia

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

(show top 50)    (show all 320)
idRelated DiseaseScoreTop Affiliating Genes
1chronic progressive external ophthalmoplegia31.3C10orf2, POLG, POLG2, SLC25A4
2neuropathy30.7RYR1, POLG, C10orf2
3spinocerebellar ataxia29.9POLG, ATXN2
4cerebellar ataxia29.9ATXN2, C10orf2
5internuclear ophthalmoplegia11.0
6myopathy10.6
7ataxia10.5
8tolosa-hunt syndrome10.5
9kearns-sayre syndrome10.5
10exophthalmic ophthalmoplegia10.5
11ptosis10.5
12minicore myopathy with external ophthalmoplegia10.4
13herpes zoster10.4
14familial visceral myopathy with external ophthalmoplegia10.4
15herpes zoster ophthalmicus10.4
16miller fisher syndrome10.3
17progressive external ophthalmoplegia, autosomal recessive10.3
18progressive external ophthalmoplegia, autosomal dominant10.3
19progressive external ophthalmoplegia with mitochondrial dna deletions 310.3
20progressive external ophthalmoplegia, autosomal dominant, 310.3
21spinal atrophy ophthalmoplegia pyramidal syndrome10.3
22meningitis10.3
23progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 410.3
24myasthenia gravis10.3
25lupus erythematosus10.3
26head injury10.3
27blindness10.3
28systemic lupus erythematosus10.2
29progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 610.2
30mitochondrial dna depletion syndrome 710.2
31exophthalmos10.2
32progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 510.2
33exotropia10.2
34myositis10.2
35retinitis10.2
36cerebellar ataxia infantile with progressive external ophthalmoplegia10.2
37aneurysm10.2
38migraine10.2
39supranuclear palsy, progressive10.2
40gaze palsy, horizontal, with progressive scoliosis10.2
41strabismus10.2
42arthrogryposis, distal, type 2b10.1
43ivic syndrome10.1
44optic atrophy plus syndrome10.1
45sinusitis10.1
46total internal ophthalmoplegia10.1
47cerebritis10.1
48cervicitis10.1
49dementia10.1
50encephalitis10.1

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:

33
Eye, Skeletal muscle, Brain, B cells, Pituitary, 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:

37
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 848)
idTitleAuthorsYear
1
A rare cause of reversible ophthalmoplegia: tension pneumocephalus with brainstem compression. (25773200)
2015
2
Painful ophthalmoplegia: a case of tolosa-hunt syndrome. (25373075)
2014
3
Acute visual loss with ophthalmoplegia after spinal surgery: Report of a case and review of the literature. (25370405)
2014
4
Bilateral ptosis with wall-eyed bilateral internuclear ophthalmoplegia and vertical gaze paralysis. (24870222)
2014
5
Bilateral internuclear ophthalmoplegia associated with pediatric brain tumor progression: a case series and review of the literature. (24048548)
2013
6
Spheniodal mucocele causing bilateral optic neuropathy and ophthalmoplegia. (23571243)
2013
7
Acute onset of upbeat nystagmus, exotropia, and internuclear ophthalmoplegia--a tell-tale of ponto-mesencephalic infarct. (23830476)
2013
8
Pediatric internuclear ophthalmoplegia. (23470988)
2013
9
Neurological picture. Internuclear ophthalmoplegia following African tick bite fever. (21421770)
2011
10
Postural instability, frontotemporal dementia, and ophthalmoplegia: clinicopathological case. (21755535)
2011
11
Ophthalmoplegia in a patient with breast cancer. (22206067)
2011
12
Bilateral Internuclear Ophthalmoplegia in a Patient with Devic's Neuromyelitis Optica. (21113284)
2010
13
Transient internal ophthalmoplegia after inferior oblique myectomy. (20006825)
2009
14
Diplopia, blepharoptosis, and ophthalmoplegia and 3-hydroxy-3-methyl-glutaryl-CoA reductase inhibitor use. (18930555)
2008
15
Childhood steroid-responsive painful ophthalmoplegia: clues to ophthalmoplegic migraine. (17643751)
2007
16
Abducens-oculomotor synkinesis associated with internuclear ophthalmoplegia and acquired abducens nerve palsy. (16915907)
2006
17
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. (16682683)
2006
18
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. (16940310)
2006
19
Delayed internal ophthalmoplegia and amblyopia following chickenpox. (16691403)
2006
20
Assessment of visual function in chronic progressive external ophthalmoplegia. (15920569)
2006
21
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. (12825077)
2003
22
Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene. (12565915)
2003
23
The diagnostic importance of the isolated supranuclear downward gaze ophthalmoplegia in progressive supranuclear palsy. (14598066)
2003
24
Vertical ophthalmoplegia in a demented patient with striatopallidodentate calcification. (12839528)
2003
25
Bilateral spontaneous corneal perforation associated with complete external ophthalmoplegia in mitochondrial myopathy (kearns-sayre syndrome). (12658098)
2003
26
Acute ophthalmoplegia. (12648973)
2003
27
Major review: the clinical spectrum of pediatric myasthenia gravis: blepharoptosis, ophthalmoplegia and strabismus. A report of 14 cases. (12171588)
2002
28
Chronic asymmetric progressive external ophthalmoplegia with right facial weakness: a unique presentation of mitochondrial myopathy. (12082069)
2002
29
The evaluation of chronic progressive external ophthalmoplegia with computerized tomography. (11998886)
2001
30
Internuclear ophthalmoplegia with skew deviation. Two cases with an isolated circumscribed lesion of the medial longitudinal fasciculus. (11096232)
2000
31
Bilateral ophthalmoplegia and exophthalmos complicating central hemodialysis catheter placement. (10213657)
1999
32
Painful ophthalmoplegia caused by idiopathic hypertrophic cranial pachymeningitis in the cavernous sinus. (18639052)
1998
33
Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients. (7496174)
1995
34
Toxic internuclear ophthalmoplegia related to antiobesity treatment. (1477455)
1992
35
Bilateral internuclear ophthalmoplegia after smoking "crack" cocaine. (1838554)
1991
36
Neurogenic muscle weakness in chronic progressive external ophthalmoplegia (CPEO) (2266992)
1990
37
Neurological and radiological studies in painful ophthalmoplegia: Tolosa-Hunt syndrome and orbital pseudotumour. (2614488)
1989
38
Internuclear ophthalmoplegia in acquired immunodeficiency syndrome. (2802452)
1989
39
Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia. (2515390)
1989
40
Treatment of ptosis in chronic progressive external ophthalmoplegia. (3580341)
1987
41
Iatrogenic internuclear ophthalmoplegia. (3746320)
1986
42
Bilateral internuclear ophthalmoplegia due to hydrocephalus: a case report. (4069338)
1985
43
Partial cytochrome oxidase (aa3) deficiency in chronic progressive external ophthalmoplegia. Histochemical and biochemical studies. (2418159)
1985
44
Internuclear ophthalmoplegia in tuberculous meningitis. A report of two cases. (6468455)
1984
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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Search GEO for disease gene expression data for Ophthalmoplegia.

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:
51PharmGKB, 45Novoseek, 13DrugBank, 30IUPHAR, 26HMDB
See all sources

Compounds related to Ophthalmoplegia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1abacavir51 45 1311.9POLG2, POLG
2lamivudine45 51 1311.8POLG, POLG2
3mgcl2459.8RYR1, POLG
4diethyl dithiocarbamate459.8POLG2, POLG
5nucleoside459.7POLG2, POLG
6zidovudine45 51 1311.6POLG, POLG2
7n-ethylmaleimide45 1310.3RYR1, POLG
8glutamine459.0RYR1, POLG, ATXN2
9atp45 309.5RYR1, SLC25A4, POLG2, POLG
10oxygen45 269.5RRM2B, 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:00426459.3POLG2, POLG, C10orf2

Biological processes related to Ophthalmoplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA-dependent DNA replicationGO:00062619.7POLG2, POLG
2mitochondrial DNA replicationGO:00062649.2POLG, RRM2B, C10orf2
3cell deathGO:00082198.8POLG, ATXN2, C10orf2

Molecular functions related to Ophthalmoplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA-directed DNA polymerase activityGO:00038879.7POLG2, POLG
2protease bindingGO:00020208.9RYR1, POLG, C10orf2

Products for genes affiliated with Ophthalmoplegia

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  • Kits and Assays

Sources for Ophthalmoplegia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet