MCID: BLL005
MIFTS: 19

Bullous Retinoschisis

Categories: Eye diseases

Aliases & Classifications for Bullous Retinoschisis

MalaCards integrated aliases for Bullous Retinoschisis:

Name: Bullous Retinoschisis 12 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:12108
ICD9CM 34 361.12
SNOMED-CT 67 65545003
UMLS 71 C0344289

Summaries for Bullous Retinoschisis

MalaCards based summary : Bullous Retinoschisis is related to retinoschisis 1, x-linked, juvenile and retinal detachment. An important gene associated with Bullous Retinoschisis is RS1 (Retinoschisin 1). Affiliated tissues include eye and testes, and related phenotypes are nervous system and vision/eye

Related Diseases for Bullous Retinoschisis

Diseases related to Bullous Retinoschisis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 retinoschisis 1, x-linked, juvenile 30.6 SARM1 RS1 RGS11 PRDX6
2 retinal detachment 10.2
3 eye degenerative disease 10.2 VEGFA RS1
4 retinal perforation 10.2 VEGFA RS1
5 macular dystrophy, dominant cystoid 10.2 VEGFA RS1
6 wallerian degeneration 10.2 VEGFA SARM1
7 neovascular glaucoma 10.1 VEGFA RS1
8 choroid disease 10.1 VEGFA RS1
9 macular holes 10.1 VEGFA RS1
10 monocular esotropia 10.0
11 esotropia 10.0
12 coats disease 10.0 VEGFA RS1
13 catastrophic antiphospholipid syndrome 10.0 F5 CFH
14 ischemic colitis 10.0 VEGFA F5
15 retinal vascular occlusion 10.0 VEGFA F5
16 multifocal choroiditis 10.0 CFH ARMS2
17 central serous chorioretinopathy 10.0 CFH ARMS2
18 toxic maculopathy 10.0 CFH ARMS2
19 central retinal vein occlusion 10.0 VEGFA F5
20 basal laminar drusen 10.0 CFH ARMS2
21 retinal vein occlusion 10.0 VEGFA F5
22 thrombotic microangiopathy 9.9 VEGFA CFH
23 pulmonary artery disease 9.9 VEGFA F5
24 retinal drusen 9.9 CFH ARMS2
25 complement component 2 deficiency 9.9 CFH ARMS2
26 doyne honeycomb retinal dystrophy 9.9 CFH ARMS2
27 retinal artery occlusion 9.9 VEGFA F5
28 yemenite deaf-blind hypopigmentation syndrome 9.9 VEGFA CFH
29 histoplasmosis 9.9 CFH ARMS2
30 venous insufficiency 9.9 VEGFA F5
31 ovarian hyperstimulation syndrome 9.8 VEGFA F5
32 stargardt disease 9.8 RS1 CFH ARMS2
33 vein disease 9.7 VEGFA F5
34 retinal disease 9.7 RS1 CFH ARMS2
35 speech disorder 9.7 CBSL APELA
36 severe pre-eclampsia 9.6 VEGFA F5 CFH
37 hellp syndrome 9.6 VEGFA F5 CFH
38 choroiditis 9.6 VEGFA CFH ARMS2
39 kuhnt-junius degeneration 9.6 VEGFA CFH ARMS2
40 angioid streaks 9.6 VEGFA CFH ARMS2
41 degeneration of macula and posterior pole 9.6 VEGFA CFH ARMS2
42 contractures, pterygia, and variable skeletal fusions syndrome 1a 9.6 VEGFA CFH ARMS2
43 nonarteritic anterior ischemic optic neuropathy 9.6 VEGFA F5
44 fundus dystrophy 9.4 VEGFA RS1 CFH ARMS2
45 autosomal genetic disease 9.2 VEGFA TYR CFH ARMS2
46 macular degeneration, age-related, 1 9.0 VEGFA TYR RS1 CFH ARMS2
47 eye disease 9.0 VEGFA TYR RS1 CFH ARMS2
48 retinitis pigmentosa 8.3 VEGFA TYR RS1 CFH CBSL ARMS2

Graphical network of the top 20 diseases related to Bullous Retinoschisis:



Diseases related to Bullous Retinoschisis

Symptoms & Phenotypes for Bullous Retinoschisis

MGI Mouse Phenotypes related to Bullous Retinoschisis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.56 CBSL CFH F5 RGS11 RS1 SARM1
2 vision/eye MP:0005391 9.1 CBSL CFH RGS11 RS1 TYR VEGFA

Drugs & Therapeutics for Bullous Retinoschisis

Search Clinical Trials , NIH Clinical Center for Bullous Retinoschisis

Genetic Tests for Bullous Retinoschisis

Anatomical Context for Bullous Retinoschisis

MalaCards organs/tissues related to Bullous Retinoschisis:

40
Eye, Testes

Publications for Bullous Retinoschisis

Articles related to Bullous Retinoschisis:

(show all 17)
# Title Authors PMID Year
1
Bullous retinoschisis. 61
31546543 2019
2
COMBINING EXTERNAL NEEDLE DRAINAGE AND SCLERAL BUCKLING WITH VITRECTOMY FOR THE REPAIR OF BULLOUS RETINAL DETACHMENTS. 61
29190248 2018
3
Neovascularization of the iris in retinoschisis. 61
29260089 2017
4
Identifying rhegmatogenous detachments in bullous retinoschisis with optical coherence tomography studies. 61
29260053 2017
5
Ultra Wide-Field Laser Scanning Imaging of an Unusually Bullous Retinoschisis: Retinoschisis vs Detachment. 61
28418564 2017
6
Clinical features of a toddler with bilateral bullous retinoschisis with a novel RS1 mutation. 61
29503952 2017
7
R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family. 61
20806044 2010
8
Bullous retinoschisis of the macula due to radiation retinopathy. 61
18185159 2008
9
A modified laser test for the identification of retinoschisis. 61
14597050 2003
10
Peripheral retinoschisis and exudative retinal detachment in pars planitis. 61
12476097 2002
11
Outer layer breaks and asymptomatic schisis detachment: clinical considerations. 61
12358289 2002
12
[Bullous form of X-linked congenital retinoschisis in infants]. 61
11339042 2001
13
Infantile presentation of X linked retinoschisis. 61
7662629 1995
14
[Photocoagulation in sex-linked heredofamilial retinoschisis]. 61
2357747 1990
15
Vascular leakage, neovascularization, and vitreous hemorrhage in senile bullous retinoschisis. 61
6190404 1983
16
Congenital hereditary retinoschisis: evolution at the initial stage. 61
6915726 1981
17
[Results of photocoagulation treatment of bullous retinoschisis]. 61
1036277 1976

Variations for Bullous Retinoschisis

Expression for Bullous Retinoschisis

Search GEO for disease gene expression data for Bullous Retinoschisis.

Pathways for Bullous Retinoschisis

GO Terms for Bullous Retinoschisis

Cellular components related to Bullous Retinoschisis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.1 VEGFA RS1 PRDX6 F5 CFH APELA

Biological processes related to Bullous Retinoschisis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903589 8.62 VEGFA APELA

Sources for Bullous Retinoschisis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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