MCID: RTN023
MIFTS: 53

Retinitis malady

Summaries for Retinitis

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 Retinitis is inflammation of the retina in the eye, which may lead to blindness. Retinitis may be caused... more...

MalaCards: Retinitis, also known as retinitis nos, is related to retinitis pigmentosa and leber congenital amaurosis. An important gene associated with Retinitis is PRPH2 (peripherin 2 (retinal degeneration, slow)), and among its related pathways are Signaling by GPCR and Visual phototransduction. The compounds vitamin a and 11-cis-retinol have been mentioned in the context of this disorder. Related mouse phenotypes are vision/eye and nervous system.

Aliases & Classifications for Retinitis

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 35MeSH
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Aliases & Descriptions:

retinitis 8 10 45 61
retinitis nos 8


External Ids:

Disease Ontology8 DOID:3612
MeSH35 D012173

Related Diseases for Retinitis

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Retinitis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 1241)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis pigmentosa31.8RP1, RHO
2leber congenital amaurosis30.8RPE65, RPGR, RHO, PRPH2, NRL
3blindness30.7ABCA4, RP1, RPE65, RPGR, RHO, NRL
4stargardt disease30.6ABCA4, RHO
5rhyns syndrome30.5RPE65, RP2, RPGR, RHO, PRPH2, NRL
6fundus albipunctatus30.3PRPH2, RHO
7retinitis pigmentosa 230.2RP2
8congenital stationary night blindness30.1RPE65, RHO
9retinitis pigmentosa 330.1RPGR
10age related macular degeneration30.1RHO
11cone-rod dystrophy 230.1CERKL, ABCA4, PRPH2, RHO, RPE65, RPGR
12vitelliform macular dystrophy30.0ROM1, PRPH2
13fundus flavimaculatus29.4ABCA4, ROM1
14central retinal vein occlusion11.0
15cytomegalovirus retinitis11.0
16central retinal artery occlusion10.9
17retinal ischemia10.9
18retinal vasculitis10.9
19vasculitis10.9
20n syndrome10.8
21branch retinal artery occlusion10.7
22proliferative vitreoretinopathy10.7
23retinitis pigmentosa autosomal recessive10.7
24acute retinal necrosis syndrome10.7
25uveitis10.7
26vascular disease10.6
27vitreous detachment10.6
28cystoid macular edema10.6
29telangiectasis10.6
30proliferative diabetic retinopathy10.5
31central serous chorioretinopathy10.5
32macular holes10.5
33coloboma10.5
34diabetic macular edema10.5
35hypoxia10.5
36ocular hypertension10.5
37neuroretinitis10.5
38acquired immunodeficiency syndrome10.4
39usher syndrome10.4
40coats disease10.4
41cone dystrophy10.4
42neovascular glaucoma10.4
43ischemic optic neuropathy10.4
44late-onset retinal degeneration10.4
45ataxia10.4
46ischemic neuropathy10.4
47macular dystrophy10.4
48carotid artery occlusion10.4
49hyperhomocysteinemia10.4
50systemic lupus erythematosus10.4

Graphical network of the top 20 diseases related to Retinitis:



Diseases related to retinitis

Clinical Features for Retinitis

Drugs & Therapeutics for Retinitis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Retinitis

Anatomical Context for Retinitis

Animal Models for Retinitis or affiliated genes

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539113.7CERKL, RP1, RPE65, RPGR, RDH11, RD3
2MP:000363112.8RP1, RPE65, RPGR, RD3, GUCY2F, RHO
3MP:000118611.4ABCA4, PRPH2, RHO, RPE65

Publications for Retinitis

Sources:
51PubMed
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Articles related to Retinitis:

(show top 50)    (show all 1793)
idTitleAuthorsYear
1
Intravitreal ganciclovir for neonatal cytomegalovirus-associated retinitis: a case report. (23536045)
2013
2
The severe autosomal dominant retinitis pigmentosa rhodopsin mutant Ter349Glu mislocalizes and induces rapid rod cell death. (23940033)
2013
3
Schizophrenia and retinitis pigmentosa: are there mechanisms which blind insanity? (22826378)
2013
4
Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa. (23991284)
2013
5
Adaptive optics fundus images of cone photoreceptors in the macula of patients with retinitis pigmentosa. (23378739)
2013
6
A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family. (23029027)
2012
7
Evidence for multiple cell death pathways during development of experimental cytomegalovirus retinitis in mice with retrovirus-induced immunosuppression: apoptosis, necroptosis, and pyroptosis. (22837196)
2012
8
Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population. (22848652)
2012
9
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). (22619378)
2012
10
Mice with a D190N mutation in the gene encoding rhodopsin: a model for human autosomal-dominant retinitis pigmentosa. (22252712)
2012
11
Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation. (21828050)
2011
12
Kyrieleis plaques in cytomegalovirus retinitis. (21833831)
2011
13
Fourier-domain optical coherence tomography and microperimetry findings in retinitis pigmentosa. (21094934)
2011
14
Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa. (20237254)
2010
15
Efficacy of sustained topical dorzolamide therapy for cystic macular lesions in patients with retinitis pigmentosa and usher syndrome. (20837798)
2010
16
Structural and functional characteristics in carriers of X-linked retinitis pigmentosa with a tapetal-like reflex. (20829740)
2010
17
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. (18552978)
2008
18
Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa. (17438524)
2007
19
A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa. (17167406)
2006
20
Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28. (16740911)
2006
21
High-dose (5000-microg) intravitreal ganciclovir combined with highly active antiretroviral therapy for cytomegalovirus retinitis in HIV-infected patients in Venezuela. (16167292)
2005
22
Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa. (15069441)
2004
23
Clinical risk factors for cytomegalovirus retinitis in patients with AIDS. (15234132)
2004
24
Subretinal hemorrhage associated with cytomegalovirus retinitis in a patient without concurrent thrombocytopenia. (15300084)
2004
25
Visual loss in patients with cytomegalovirus retinitis and acquired immunodeficiency syndrome before widespread availability of highly active antiretroviral therapy. (12523893)
2003
26
Pharmacokinetics and renal effects of cidofovir with a reduced dose of probenecid in HIV-infected patients with cytomegalovirus retinitis. (12520627)
2003
27
Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. (12362048)
2002
28
Successful treatment of fungal retinitis and retinal vasculitis with oral itraconazole. (12476111)
2002
29
Cytomegalovirus retinitis during immunotherapy for common variable immunodeficiency. (11972425)
2002
30
Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa. (10711677)
2000
31
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. (11062461)
2000
32
Routine ophthalmologic screening for cytomegalovirus retinitis in patients with AIDS. (10866239)
2000
33
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. (10192380)
1999
34
Catheter complications in AIDS patients treated for cytomegalovirus retinitis. (9863875)
1998
35
Race and the treatment of cytomegalovirus retinitis in a cohort of patients with acquired immunodeficiency syndrome. (9581441)
1998
36
T cell subsets and cytomegalovirus retinitis in human immunodeficiency virus-infected patients. (9291335)
1997
37
Cytomegalovirus retinitis after initiation of highly active antiretroviral therapy. (9284793)
1997
38
Efficacy of dorzolamide hydrochloride in the management of chronic cystoid macular edema in patients with retinitis pigmentosa. (9196934)
1997
39
Cytomegalovirus retinitis in the presence of a normal helper T-cell count. (9425428)
1997
40
Treatment of clinically resistant cytomegalovirus retinitis with combined intravitreal injections of ganciclovir and foscarnet. (8659587)
1996
41
Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC). (8646891)
1996
42
Novel rhodopsin mutation (M216R) in a Danish family with autosomal dominant retinitis pigmentosa. (9010870)
1996
43
A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa. (8634708)
1995
44
Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families. (7607661)
1995
45
Increased TRPM-2/clusterin mRNA levels during the time of retinal degeneration in mouse models of retinitis pigmentosa. (7605616)
1994
46
Primary angle closure glaucoma and retinitis pigmentosa. (8154244)
1993
47
Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. (8449524)
1993
48
Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin. (8353500)
1993
49
Nephrogenic diabetes insipidus associated with foscarnet treatment of cytomegalovirus retinitis. (2160217)
1990
50
Solar retinopathy and foveomacular retinitis. (1080031)
1975

Genetic Variations for Retinitis

Expression for genes affiliated with Retinitis

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

Search GEO for disease gene expression data for Retinitis.

Pathways for genes affiliated with Retinitis

Sources:
54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore
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Compounds for genes affiliated with Retinitis

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

idCompoundScoreTop Affiliating Genes
1vitamin a45 11 2413.6RPE65, RDH11, RHO, ABCA4, RGR
211-cis-retinol45 2412.4RGR, ABCA4, RHO, RPE65
3cgmp45 2912.1RHO, GUCY2F, RPGR
4retinoid4511.1RGR, ABCA4, RHO, RPE65
5gramicidin4510.8RHO, SLC24A1

GO Terms for genes affiliated with Retinitis

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

idNameGO IDScoreTop Affiliating Genes
1integral to plasma membraneGO:00588711.7GUCY2F, RHO, ABCA4, ROM1, RGR, SLC24A1
2photoreceptor disc membraneGO:09738111.2ABCA4, RHO, GUCY2F
3photoreceptor outer segmentGO:00175011.1RHO, RPGR, RP1
4photoreceptor inner segmentGO:00191710.9RHO, RP1
5photoreceptor outer segment membraneGO:04262210.6ROM1, RHO

Biological processes related to Retinitis according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00760114.3SLC24A2, RP1, RPE65, RP2, RPGR, RD3
2phototransduction, visible lightGO:00760312.3RP1, RPE65, RDH11, GUCY2F, RHO, ABCA4
3response to stimulusGO:05089611.6RPGR, RD3, NRL, RAX2
4retinoid metabolic processGO:00152311.6ABCA4, RHO, RDH11, RPE65
5rhodopsin mediated signaling pathwayGO:01605611.3SLC24A1, RHO, GUCY2F
6retina development in camera-type eyeGO:06004111.3PRPH2, RHO, RD3
7regulation of rhodopsin gene expressionGO:00746811.1RPE65, NRL
8retinal rod cell developmentGO:04654811.1RP1, NRL
9retinal metabolic processGO:04257411.0RDH11, RPE65
10protein-chromophore linkageGO:01829811.0RGR, RHO
11eye photoreceptor cell developmentGO:04246210.9RPGR, FSCN2
12regulation of rhodopsin mediated signaling pathwayGO:02240010.9RHO, GUCY2F
13phototransductionGO:00760210.8RGR, PITPNM1
14photoreceptor cell maintenanceGO:04549410.6ABCA4, RP1

Molecular functions related to Retinitis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor activityGO:00988110.9RGR, RHO

Products for genes affiliated with Retinitis

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Sources for Retinitis

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