MCID: BLL005
MIFTS: 20

Bullous Retinoschisis

Categories: Neuronal 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 perforation. An important gene associated with Bullous Retinoschisis is RS1 (Retinoschisin 1). Related phenotypes are nervous system and renal/urinary system

Related Diseases for Bullous Retinoschisis

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 retinoschisis 1, x-linked, juvenile 30.6 SARM1 RS1 PRDX6
2 retinal perforation 10.1 VEGFA RS1
3 macular dystrophy, dominant cystoid 10.1 VEGFA RS1
4 neovascular glaucoma 10.1 VEGFA RS1
5 wallerian degeneration 10.1 VEGFA SARM1
6 retinal detachment 10.1
7 choroid disease 10.1 VEGFA RS1
8 macular holes 10.1 VEGFA RS1
9 coats disease 10.0 VEGFA RS1
10 ischemic colitis 10.0 VEGFA F5
11 retinal vascular occlusion 10.0 VEGFA F5
12 central retinal vein occlusion 10.0 VEGFA F5
13 retinal vein occlusion 10.0 VEGFA F5
14 pulmonary artery disease 10.0 VEGFA F5
15 retinal artery occlusion 10.0 VEGFA F5
16 venous insufficiency 10.0 VEGFA F5
17 monocular esotropia 10.0
18 esotropia 10.0
19 x-linked congenital retinoschisis 10.0
20 juvenile retinoschisis 10.0
21 sorsby fundus dystrophy 10.0 VEGFA ARMS2
22 vein disease 10.0 VEGFA F5
23 ovarian hyperstimulation syndrome 9.9 VEGFA F5
24 uveal disease 9.9 VEGFA TYR
25 nonarteritic anterior ischemic optic neuropathy 9.9 VEGFA F5
26 catastrophic antiphospholipid syndrome 9.9 F5 CFH
27 antiphospholipid syndrome 9.9 F5 CFH
28 neurofibroma 9.9 VEGFA TYR
29 multifocal choroiditis 9.9 CFH ARMS2
30 central serous chorioretinopathy 9.9 CFH ARMS2
31 basal laminar drusen 9.9 CFH ARMS2
32 yemenite deaf-blind hypopigmentation syndrome 9.8 VEGFA CFH
33 retinal drusen 9.8 CFH ARMS2
34 complement component 2 deficiency 9.8 CFH ARMS2
35 histoplasmosis 9.8 CFH ARMS2
36 macular retinal edema 9.8 VEGFA CFH
37 doyne honeycomb retinal dystrophy 9.8 CFH ARMS2
38 varicose veins 9.8 VEGFA F5
39 stargardt disease 9.7 RS1 CFH ARMS2
40 placenta disease 9.7 VEGFA F5
41 retinal disease 9.7 RS1 CFH ARMS2
42 lens disease 9.6 VEGFA CFH
43 severe pre-eclampsia 9.6 VEGFA F5 CFH
44 hellp syndrome 9.6 VEGFA F5 CFH
45 blood coagulation disease 9.6 VEGFA F5 CFH
46 degenerative myopia 9.6 VEGFA CFH ARMS2
47 choroiditis 9.6 VEGFA CFH ARMS2
48 angioid streaks 9.6 VEGFA CFH ARMS2
49 kuhnt-junius degeneration 9.6 VEGFA CFH ARMS2
50 degeneration of macula and posterior pole 9.6 VEGFA CFH 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 CBSL CFH F5 RS1 SARM1 TYR
2 renal/urinary system MP:0005367 9.02 CBSL CFH PRDX6 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

Publications for Bullous Retinoschisis

Articles related to Bullous Retinoschisis:

(show all 18)
# Title Authors PMID Year
1
A case of undiagnosed X-linked retinoschisis presenting as unilateral macular demarcation line. 61
32698614 2020
2
Bullous retinoschisis. 61
31546543 2019
3
COMBINING EXTERNAL NEEDLE DRAINAGE AND SCLERAL BUCKLING WITH VITRECTOMY FOR THE REPAIR OF BULLOUS RETINAL DETACHMENTS. 61
29190248 2018
4
Neovascularization of the iris in retinoschisis. 61
29260089 2017
5
Identifying rhegmatogenous detachments in bullous retinoschisis with optical coherence tomography studies. 61
29260053 2017
6
Ultra Wide-Field Laser Scanning Imaging of an Unusually Bullous Retinoschisis: Retinoschisis vs Detachment. 61
28418564 2017
7
Clinical features of a toddler with bilateral bullous retinoschisis with a novel RS1 mutation. 61
29503952 2017
8
R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family. 61
20806044 2010
9
Bullous retinoschisis of the macula due to radiation retinopathy. 61
18185159 2008
10
A modified laser test for the identification of retinoschisis. 61
14597050 2003
11
Peripheral retinoschisis and exudative retinal detachment in pars planitis. 61
12476097 2002
12
Outer layer breaks and asymptomatic schisis detachment: clinical considerations. 61
12358289 2002
13
[Bullous form of X-linked congenital retinoschisis in infants]. 61
11339042 2001
14
Infantile presentation of X linked retinoschisis. 61
7662629 1995
15
[Photocoagulation in sex-linked heredofamilial retinoschisis]. 61
2357747 1990
16
Vascular leakage, neovascularization, and vitreous hemorrhage in senile bullous retinoschisis. 61
6190404 1983
17
Congenital hereditary retinoschisis: evolution at the initial stage. 61
6915726 1981
18
[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 9.35 VEGFA RS1 PRDX6 F5 CFH
2 platelet alpha granule lumen GO:0031093 9.16 VEGFA F5
3 photoreceptor inner segment GO:0001917 8.62 RS1 ARMS2

Molecular functions related to Bullous Retinoschisis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 VEGFA TYR SARM1 PRDX6 CFH
2 copper ion binding GO:0005507 8.96 TYR F5

Sources for Bullous Retinoschisis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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