ROP
MCID: RTN012
MIFTS: 56

Retinopathy of Prematurity (ROP) malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Retinopathy of Prematurity

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Retinopathy of prematurity (ROP) or Terry syndrome, previously known as retrolental fibroplasia (RLF),... more...

MalaCards: Retinopathy of Prematurity, also known as retrolental fibroplasia, is related to norrie disease and blindness. An important gene associated with Retinopathy of Prematurity is FZD4 (frizzled class receptor 4), and among its related pathways are HIF-1 signaling pathway and PEDF Induced Signaling. The compounds verteporfin and triamcinolone acetonide have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina, and related mouse phenotypes are pigmentation and digestive/alimentary.

Description from OMIM:48 133780

Aliases & Classifications for Retinopathy of Prematurity

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9Disease Ontology, 44NIH Rare Diseases, 48OMIM, 11DISEASES, 63UMLS, 28ICD9CM, 59SNOMED-CT, 36MeSH, 41NCIt, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases


Aliases & Descriptions:

retinopathy of prematurity 9 44 48 11 63
retrolental fibroplasia 9 44
premature retinopathy 9
rop 44


External Ids:

Disease Ontology9 DOID:13025
ICD9CM28 362.21, 362.20
MeSH36 D012178
NCIt41 C34982
ICD1026 H35.1

Related Diseases for Retinopathy of Prematurity

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Retinopathy of Prematurity:



Diseases related to retinopathy of prematurity

Symptoms for Retinopathy of Prematurity

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48OMIM
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Clinical features from OMIM:

133780

Drugs & Therapeutics for Retinopathy of Prematurity

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Retinopathy of Prematurity

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Genetic Tests for Retinopathy of Prematurity

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Anatomical Context for Retinopathy of Prematurity

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34MalaCards
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MalaCards organs/tissues related to Retinopathy of Prematurity:

34
Eye, Endothelial, Retina, Brain, Colon, Lung, Breast, Placenta

Animal Models for Retinopathy of Prematurity or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Retinopathy of Prematurity:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9NDP, FZD4, SERPINF1
2MP:00053818.2VEGFA, SERPINF1, FZD4, ANGPT2, IL9
3MP:00053858.2VEGFA, SERPINF1, FZD4, ANGPT2, NDP
4MP:00036317.9SERPINF1, SAG, FZD4, NDP, VEGFA
5MP:00053917.5NDP, ANGPT2, FZD4, SAG, SERPINF1, VEGFA

Publications for Retinopathy of Prematurity

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53PubMed
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Articles related to Retinopathy of Prematurity:

(show top 50)    (show all 573)
idTitleAuthorsYear
1
The effectiveness of policy changes designed to increase the attendance rate for outpatient retinopathy of prematurity (ROP) screening examinations. (23791413)
2013
2
Incidence and main risk factors for severe retinopathy of prematurity in infants weighing less than 1000 grams in Brazil. (23771954)
2013
3
The effect of sildenafil on retinopathy of prematurity in very preterm infants. (22766743)
2013
4
Anti-VEGF antibody leads to later atypical intravitreous neovascularization and activation of angiogenic pathways in a rat model of retinopathy of prematurity. (23449716)
2013
5
Associations of VEGF/VEGF-receptor and HGF/c-Met promoter polymorphisms with progression/regression of retinopathy of prematurity. (23094709)
2013
6
Mechanisms and management of retinopathy of prematurity. (23514303)
2013
7
Mechanisms and management of retinopathy of prematurity. (23514302)
2013
8
An updated study of the use of bevacizumab in the treatment of patients with prethreshold retinopathy of prematurity in taiwan. (22967867)
2013
9
Long-term effect of antiangiogenic therapy for retinopathy of prematurity up to 5 years of follow-up. (23099498)
2013
10
Prevalence of and risk factors for retinopathy of prematurity in a cohort of preterm infants treated exclusively with non-invasive ventilation in the first week after birth. (23374319)
2013
11
Structural and functional results of indirect diode laser treatment for retinopathy of prematurity from 1999 to 2003 in Kuwait. (23403936)
2013
12
SRPK1 inhibition modulates VEGF splicing to reduce pathological neovascularization in a rat model of retinopathy of prematurity. (23761094)
2013
13
Low incidence of sight-threatening retinopathy of prematurity in infants born before 28 weeks gestation at a neonatal intensive care unit in Japan. (23883589)
2013
14
Retinopathy of prematurity: an evaluation of existing screening criteria in Pakistan. (24344233)
2013
15
Bilateral effect of unilateral bevacizumab injection in retinopathy of prematurity. (23744183)
2013
16
Early nutrition and weight gain in preterm newborns and the risk of retinopathy of prematurity. (23734194)
2013
17
Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity. (23441120)
2013
18
Screening for retinopathy of prematurity in china: a neonatal units-based prospective study. (24204053)
2013
19
Image analysis for retinopathy of prematurity: where are we headed? (23084374)
2012
20
Retinopathy of Prematurity in a rural Neonatal Intensive Care Unit in South India--a prospective study. (22359197)
2012
21
The influence of triamcinolone on endostatin-like proteins in oxygen-induced retinopathy of prematurity. (22609274)
2012
22
Correlation of recognition visual acuity with posterior retinal structure in advanced retinopathy of prematurity. (22892757)
2012
23
The rate of change in retinal vessel width and tortuosity in eyes at risk for retinopathy of prematurity. (23084379)
2012
24
Changing spectrum of retinopathy of prematurity (ROP) and variations among siblings of multiple gestation. (22002316)
2012
25
Pain and stress assessment after retinopathy of prematurity screening examination: indirect ophthalmoscopy versus digital retinal imaging. (22928523)
2012
26
Efficacy of wide-field digital retinal imaging for retinopathy of prematurity screening. (20796264)
2011
27
Efficacy of intravitreal bevacizumab for stage 3+ retinopathy of prematurity. (21957683)
2011
28
Accuracy of retinopathy of prematurity image-based diagnosis by pediatric ophthalmology fellows: implications for training. (22153403)
2011
29
Possible roles of bilirubin and breast milk in protection against retinopathy of prematurity. (20969622)
2011
30
Risk factors for severe retinopathy of prematurity in preterm low birth weight neonates. (21340729)
2011
31
Visual field extent at 6 years of age in children who had high-risk prethreshold retinopathy of prematurity. (21320954)
2011
32
Computer-assisted image analysis of temporal retinal vessel width and tortuosity in retinopathy of prematurity for the assessment of disease severity and treatment outcome. (21907122)
2011
33
Masked trial of topical anesthesia for retinopathy of prematurity eye examinations. (21397805)
2011
34
Retinopathy of prematurity: do we still have a problem?: the Charles L. Schepens lecture. (21825195)
2011
35
Understanding clinically undetected macular changes in early retinopathy of prematurity on spectral domain optical coherence tomography. (21551410)
2011
36
A clinical prediction model to stratify retinopathy of prematurity risk using postnatal weight gain. (21321036)
2011
37
Bilateral retinoblastoma presenting at retinopathy of prematurity screening. (20576664)
2010
38
Perinatal systemic inflammatory response syndrome and retinopathy of prematurity. (20032809)
2010
39
Lack of association of genetic polymorphisms of angiotensin-converting enzyme gene I/D and glutathione-S-transferase enzyme T1 and M1 with retinopathy of prematures. (21038299)
2010
40
Computer-assisted measurement of retinal vascular width and tortuosity in retinopathy of prematurity. (20625044)
2010
41
Comparison of UK and US screening criteria for detection of retinopathy of prematurity in a developing nation. (21093333)
2010
42
The emergence of retinopathy of prematurity in Guatemala. (21214159)
2010
43
Severe retinopathy of prematurity associated with FZD4 mutations. (20141357)
2010
44
Making sense of clinical determinants of retinopathy of prematurity. (20547261)
2010
45
Retinopathy of Prematurity and Shaken Baby Syndrome. (19873954)
2009
46
Vitreous levels of stromal cell-derived factor 1 and vascular endothelial growth factor in patients with retinopathy of prematurity. (18031819)
2008
47
Neutralizing antibody to VEGF reduces intravitreous neovascularization and may not interfere with ongoing intraretinal vascularization in a rat model of retinopathy of prematurity. (18334951)
2008
48
Longitudinal postnatal weight and insulin-like growth factor I measurements in the prediction of retinopathy of prematurity. (17159030)
2006
49
Genetic polymorphisms of vascular endothelial growth factor and angiopoietin 2 in retinopathy of prematurity. (16877277)
2006
50
SB-267268, a nonpeptidic antagonist of alpha(v)beta3 and alpha(v)beta5 integrins, reduces angiogenesis and VEGF expression in a mouse model of retinopathy of prematurity. (16565398)
2006

Variations for Retinopathy of Prematurity

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Retinopathy of Prematurity:

65 (show all 20)
id Symbol AA change Variation ID SNP ID
1FZD4p.Met105ValVAR_038947
2FZD4p.Met157ValVAR_038948
3FZD4p.Pro33SerVAR_063920rs61735304
4FZD4p.Gly36AspVAR_063921
5FZD4p.Glu40GlnVAR_063922
6FZD4p.His69TyrVAR_063923rs80358282
7FZD4p.Met105ThrVAR_063924
8FZD4p.Ile114ThrVAR_063925
9FZD4p.Cys181ArgVAR_063927
10FZD4p.Cys204ArgVAR_063929
11FZD4p.Cys204TyrVAR_063930
12FZD4p.Met223LysVAR_063931
13FZD4p.Ile256ValVAR_063932
14FZD4p.Trp335CysVAR_063933
15FZD4p.Met342ValVAR_063934
16FZD4p.Arg417GlnVAR_063936
17FZD4p.Thr445ProVAR_063937
18FZD4p.Gly488AspVAR_063938
19FZD4p.Ser497PheVAR_063939
20FZD4p.Gly525ArgVAR_063940

Clinvar genetic disease variations for Retinopathy of Prematurity:

1
id Gene Name Type Significance SNP ID Assembly Location
1FZD4NM_012193.3(FZD4): c.1479_1484delGTGGAT (p.Met493_Trp494del)deletionPathogenicrs80358301GRCh37Chr 11, 86662314: 86662319
2FZD4NM_012193.3(FZD4): c.1501_1502delCT (p.Leu501Serfs)deletionPathogenicrs80358303GRCh37Chr 11, 86662296: 86662297
3FZD4NM_012193.3(FZD4): c.1250G> A (p.Arg417Gln)single nucleotide variantPathogenicrs80358294GRCh37Chr 11, 86662548: 86662548
4FZD4NM_012193.3(FZD4): c.1024A> G (p.Met342Val)single nucleotide variantPathogenicrs80358293GRCh37Chr 11, 86662774: 86662774
5FZD4NM_012193.3(FZD4): c.1005G> C (p.Trp335Cys)single nucleotide variantPathogenicrs80358292GRCh37Chr 11, 86662793: 86662793

Expression for genes affiliated with Retinopathy of Prematurity

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Retinopathy of Prematurity

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Pathways for genes affiliated with Retinopathy of Prematurity

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51PathCards, 31KEGG, 54QIAGEN
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Compounds for genes affiliated with Retinopathy of Prematurity

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46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 25HMDB
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Compounds related to Retinopathy of Prematurity according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1verteporfin469.7VEGFA, SERPINF1
2triamcinolone acetonide46 3010.7SERPINF1, VEGFA
3fluorescein46 1210.7SERPINF1, VEGFA
4infliximab46 52 1211.7ANGPT2, VEGFA
5trastuzumab46 52 1211.6VEGFA, ANGPT2
6diphenyleneiodonium469.6SERPINF1, VEGFA
7celecoxib46 62 30 52 25 1214.4ANGPT2, VEGFA
8ang ii469.3SAG, VEGFA
9matrigel469.3VEGFA, SERPINF1, ANGPT2
10progestin469.2VEGFA, ANGPT2
11nitric oxide46 25 1211.0SERPINF1, FZD4, ANGPT2, IL9
12guanylate469.0ANGPT2, SAG, SERPINF1
13paraffin468.9VEGFA, SAG, ANGPT2
14pge2468.9VEGFA, SAG, ANGPT2
15heparin46 30 25 1211.6SAG, SERPINF1, VEGFA
16serine468.3IL9, ANGPT2, SAG, SERPINF1
17tyrosine467.7IL9, ANGPT2, FZD4, SAG, SERPINF1, VEGFA

GO Terms for genes affiliated with Retinopathy of Prematurity

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17Gene Ontology
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Cellular components related to Retinopathy of Prematurity according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell projectionGO:0429959.7ANGPT2, FZD4
2cell surfaceGO:0099868.9VEGFA, FZD4, NDP
3extracellular spaceGO:0056158.1NDP, IL9, ANGPT2, SERPINF1, VEGFA

Biological processes related to Retinopathy of Prematurity according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix-cell signalingGO:03542610.0NDP, FZD4
2retina vasculature morphogenesis in camera-type eyeGO:06129910.0NDP, FZD4
3negative regulation of cell-substrate adhesionGO:0108129.9ANGPT2, FZD4
4canonical Wnt signaling pathwayGO:0600709.8NDP, FZD4
5positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.8NDP, FZD4
6vasculogenesisGO:0015709.7VEGFA, FZD4
7negative regulation of angiogenesisGO:0165259.7ANGPT2, SERPINF1
8kidney developmentGO:0018229.3VEGFA, SERPINF1
9positive regulation of angiogenesisGO:0457669.2ANGPT2, VEGFA
10positive regulation of transcription, DNA-templatedGO:0458939.2NDP, FZD4, NAA15
11angiogenesisGO:0015259.1VEGFA, NAA15, ANGPT2

Molecular functions related to Retinopathy of Prematurity according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:0428039.2NDP, FZD4, VEGFA
2growth factor activityGO:0080839.0NDP, IL9, VEGFA
3cytokine activityGO:0051258.8NDP, IL9, VEGFA

Products for genes affiliated with Retinopathy of Prematurity

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Sources for Retinopathy of Prematurity

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet