XLRS
MCID: RTN025
MIFTS: 60

Retinoschisis (XLRS) malady

Eye diseases, Fetal diseases categories

Summaries for Retinoschisis

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Retinoschisis is an eye disease characterized by the abnormal splitting of the retina\'s neurosensory... more...

MalaCards: Retinoschisis, also known as retinoschisis, juvenile, x-linked, is related to retinal detachment and x-linked juvenile retinoschisis, and has symptoms including x-linked recessive inheritance, abnormal eye movements/oculomotor disorder and abnormal erg/electroretinogram/electroretinography. An important gene associated with Retinoschisis is RS1 (retinoschisin 1), and among its related pathways are Sodium-coupled transporters and pumps and Proximal tubule bicarbonate reclamation. The compounds lithium carbonate and digoxin have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related mouse phenotypes are vision/eye and nervous system.

Description from OMIM:46 312700

Aliases & Classifications for Retinoschisis

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Sources:
8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 60UMLS, 48Orphanet, 27ICD9CM, 56SNOMED-CT, 39NCIt, 34MeSH, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

48
x-linked juvenile retinoschisis:
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

retinoschisis 8 9 46 10 60
retinoschisis, juvenile, x-linked 60
x-linked juvenile retinoschisis 48
retinoschisis, unspecified 8
retinoschisis unspecified 8
x-linked retinoschisis 48
xlrs 48


External Ids:

Disease Ontology8 DOID:8465
ICD9CM27 361.10
NCIt39 C85046
MeSH34 D041441
SNOMED-CT via Orphanet57 86923008
OMIM46 312700
ICD10 via Orphanet26 Q14.1

Related Diseases for Retinoschisis

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

(show top 50)    (show all 100)
idRelated DiseaseScoreTop Affiliating Genes
1retinal detachment31.0COL2A1, NDP, RS1
2x-linked juvenile retinoschisis30.9RS1
3coats disease29.7NDP
4night blindness29.7ABCA4
5retinal degeneration29.7ABCA4, RS1
6eye disease29.7RS1, ABCA4, NDP
7retinitis10.8
8macular holes10.5
9x-linked disease10.4
10glaucoma10.2
11myopia10.2
12bullous retinoschisis10.2
13retinoschisis of fovea10.2
14retinoschisis autosomal dominant10.1
15neovascular glaucoma10.1
16flat retinoschisis10.1
17proliferative diabetic retinopathy10.0
18juvenile glaucoma10.0
19vitreous detachment10.0
20diabetic retinopathy10.0
21uveitis10.0
22goldmann-favre syndrome10.0
23vitreoretinal dystrophy10.0SKP1
24coffin-lowry syndrome10.0SKP1, PDHA1
25retinal disease10.0RS1, ABCA4, NDP
26blindness10.0COL2A1, NDP, ABCA4, RS1
27thrombocytopenia-absent radius syndrome9.8
28retinopathy of prematurity9.8
29incontinentia pigmenti achromians9.8
30choroiditis9.8
31spondyloepiphyseal dysplasia congenita9.8
32pars planitis9.8
33fundus albipunctatus9.8
34coloboma9.8
35congenital stationary night blindness9.8
36branchiooculofacial syndrome9.8
37retinitis pigmentosa9.8
38microcephaly9.8
39aicardi syndrome9.8
40fetal alcohol syndrome9.8
41adult syndrome9.8
42cone dystrophy9.8
43amblyopia9.8
44aplastic anemia9.8
45intermediate uveitis9.8
46melanoma9.8
47peripheral retinal degeneration9.8
48refractive error9.8
49retinal telangiectasia9.8
50charge syndrome9.8

Graphical network of the top 20 diseases related to Retinoschisis:



Diseases related to retinoschisis

Clinical Features for Retinoschisis

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

312700

Clinical synopsis from OMIM:

312700

Symptoms:

48 (show all 7)
  • x-linked recessive inheritance
  • abnormal eye movements/oculomotor disorder
  • abnormal erg/electroretinogram/electroretinography
  • retinoschisis/retinal/chorioretinal coloboma
  • cataract/lens opacification
  • glaucoma
  • anomalies of eyes and vision

Drugs & Therapeutics for Retinoschisis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Retinoschisis

Drug clinical trials:

Search ClinicalTrials for Retinoschisis

Search NIH Clinical Center for Retinoschisis

Search CenterWatch for Retinoschisis

Genetic Tests for Retinoschisis

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Anatomical Context for Retinoschisis

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32MalaCards
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MalaCards organs/tissues related to Retinoschisis:

32
Eye, Retina, Testes

Animal Models for Retinoschisis or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Retinoschisis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.2NDP, PPEF1, DDR2, ATP1B2, ABCA4, RGS11
2MP:00036316.5RS1, COL2A1, NDP, SARM1, PDHA1, CST3

Publications for Retinoschisis

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Sources:
50PubMed
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Articles related to Retinoschisis:

(show top 50)    (show all 491)
idTitleAuthorsYear
1
Macular drusenoid deposits in X-linked retinoschisis. (23896453)
2013
2
Retinoschisis and Hyperopia Associated with Partial Monosomy of 6q and Partial Trisomy of 11q. (24251586)
2013
3
Three-dimensional spectral domain optical coherence tomography in X linked foveal retinoschisis. (23563673)
2013
4
Senile retinoschisis versus retinal detachment, the additional value of peripheral retinal OCT scans (SL SCAN-1, Topcon). (23773202)
2013
5
Dextran and protamine-based solid lipid nanoparticles as potential vectors for the treatment of X-linked juvenile retinoschisis. (22295905)
2012
6
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. (22245536)
2012
7
The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis. (21196491)
2011
8
Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis. (20151283)
2010
9
Progression of diabetic tractional retinoschisis by optical coherence tomography. (21053865)
2010
10
The effects of transient retinal detachment on cavity size and glial and neural remodeling in a mouse model of X-linked retinoschisis. (19387072)
2009
11
Retinal nerve fibre layer thickness analysis in X-linked retinoschisis using Fourier-domain OCT. (19373267)
2009
12
Ultrasonographic documentation of a spontaneously resolved peripheral senescent retinoschisis. (18982048)
2008
13
Development of macular hole and macular retinoschisis in eyes with myopic choroidal neovascularization. (17988641)
2008
14
Progression from macular retinoschisis to retinal detachment in highly myopic eyes is associated with outer lamellar hole formation. (18523081)
2008
15
Molecular analysis of the XLRS1 gene in 4 females affected with X-linked juvenile retinoschisis. (18982040)
2008
16
Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. (17615541)
2007
17
Outer retinal corrugations in x-linked juvenile retinoschisis. (17296908)
2007
18
Vitrectomy for myopic posterior retinoschisis or foveal detachment. (16453188)
2006
19
Intraschisis cavity fluid composition in congenital X-linked retinoschisis. (16946681)
2006
20
STRATUS optical coherence tomography in unilateral colobomatous excavation of the optic disc and secondary retinoschisis. (15660280)
2005
21
Foveal schisis as a cause of retinal detachment secondary to macular hole in juvenile X-linked retinoschisis. (15805920)
2005
22
Correlation of optical coherence tomography findings with visual acuity and macular lesions in patients with X-linked retinoschisis. (15745780)
2005
23
Unsuccessful vitrectomy without gas tamponade for macular retinal detachment and retinoschisis without optic disc pit. (15305558)
2004
24
Development of a large macular fold following surgical repair of a traction retinal detachment in a child with x-linked retinoschisis. (14707837)
2003
25
Multifocal electroretinograms in X-linked retinoschisis. (14578418)
2003
26
Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene. (12457918)
2002
27
On-response deficit in the electroretinogram of the cone system in X-linked retinoschisis. (11157882)
2001
28
X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci? (11281412)
2001
29
Combined hamartoma of the retina and retinal pigment epithelium with full thickness retinal hole and without retinoschisis. (11011712)
2000
30
Unilateral macular retinoschisis with stellate foveal appearance in two females with myopia. (10847501)
2000
31
A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis. (11058916)
2000
32
OCT images and surgery of juvenile Macular retinoschisis. (9243227)
1997
33
Secondary retinoschisis in a dog. (7490341)
1995
34
Fundus albipunctatus-like lesions in juvenile retinoschisis. (7918299)
1994
35
Symptomatic retinoschisis-detachment involving the macula. (1882926)
1991
36
Nasal retinal dragging in X-linked retinoschisis. (1916317)
1991
37
X-linked congenital retinoschisis. (2227486)
1990
38
The management of retinal detachment complicating degenerative retinoschisis. (2913811)
1989
39
Detection of the carrier state of X-linked retinoschisis. (3377039)
1988
40
Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis. (3566604)
1987
41
Degenerative retinoschisis with giant outer layer breaks and retinal detachment. (3970115)
1985
42
Indications for vitrectomy in congenital retinoschisis. (4016039)
1985
43
Linkage relationships between Retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome. (6885047)
1983
44
An unusual case of retinoschisis and retinal detachment. (7114698)
1982
45
Human biochemical components in retinoschisis and detachment. (7213168)
1981
46
Macular changes in congenital retinoschisis. (1160914)
1975
47
Retinal detachment in relation to senile retinoschisis. (4729640)
1973
48
Pathology of hereditary juvenile retinoschisis. (5054298)
1972
49
Retinoschisis as prehole stage in the retinopathy of retinal detachment. (4647801)
1972
50
Retinoschisis in an abortive form of retrolental fibroplasia. (14023890)
1963

Genetic Variations for Retinoschisis

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Retinoschisis:

62 (show all 64)
id Symbol AA change Variation ID SNP ID
1RS1p.Glu72AspVAR_008180
2RS1p.Glu72LysVAR_008181
3RS1p.Gly74ValVAR_008182
4RS1p.Trp96ArgVAR_008183
5RS1p.Arg102TrpVAR_008184
6RS1p.Gly109ArgVAR_008185
7RS1p.Leu12HisVAR_008209
8RS1p.Leu13ProVAR_008210
9RS1p.Cys59SerVAR_008211
10RS1p.Tyr65CysVAR_008212
11RS1p.Gly70AlaVAR_008213
12RS1p.Gly70SerVAR_008214
13RS1p.Tyr89CysVAR_008215
14RS1p.Ala98GluVAR_008216
15RS1p.Arg102GlnVAR_008217
16RS1p.Leu103ArgVAR_008218
17RS1p.Phe108CysVAR_008219
18RS1p.Gly109GluVAR_008220
19RS1p.Gly109TrpVAR_008221
20RS1p.Cys110TyrVAR_008222
21RS1p.Trp112CysVAR_008223
22RS1p.Leu113PheVAR_008224
23RS1p.Leu127ProVAR_008225
24RS1p.Gly135ValVAR_008226
25RS1p.Ile136ThrVAR_008227
26RS1p.Thr138AlaVAR_008228
27RS1p.Gly140GluVAR_008229
28RS1p.Gly140ArgVAR_008230
29RS1p.Arg141CysVAR_008231
30RS1p.Arg141GlyVAR_008232
31RS1p.Arg141HisVAR_008233
32RS1p.Cys142TrpVAR_008234
33RS1p.Asp143ValVAR_008235
34RS1p.Glu146AspVAR_008236
35RS1p.Glu146LysVAR_008237
36RS1p.Tyr155CysVAR_008238
37RS1p.Trp163CysVAR_008240
38RS1p.Gly178AspVAR_008241
39RS1p.Arg182CysVAR_008242
40RS1p.Pro192ArgVAR_008243
41RS1p.Pro192SerVAR_008244
42RS1p.Pro193LeuVAR_008245
43RS1p.Pro193SerVAR_008246
44RS1p.Arg197CysVAR_008247
45RS1p.Arg197HisVAR_008248
46RS1p.Ile199ThrVAR_008249
47RS1p.Arg200CysVAR_008251
48RS1p.Arg200HisVAR_008252
49RS1p.Pro203LeuVAR_008253
50RS1p.His207GlnVAR_008254
51RS1p.Arg209HisVAR_008255
52RS1p.Arg213TrpVAR_008256
53RS1p.Glu215LysVAR_008257
54RS1p.Glu215GlnVAR_008258
55RS1p.Leu216ProVAR_008259
56RS1p.Cys219GlyVAR_008260
57RS1p.Cys219ArgVAR_008261
58RS1p.Cys223ArgVAR_008262
59RS1p.Ser73ProVAR_065326
60RS1p.Asp145HisVAR_065327
61RS1p.Arg156GlyVAR_065328
62RS1p.Pro192LeuVAR_065329
63RS1p.Arg209CysVAR_065330
64RS1p.Arg213GlnVAR_065331

Expression for genes affiliated with Retinoschisis

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

Search GEO for disease gene expression data for Retinoschisis.

Pathways for genes affiliated with Retinoschisis

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12EMD Millipore, 29KEGG, 51QIAGEN, 53Reactome
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Compounds for genes affiliated with Retinoschisis

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59Tocris Bioscience, 44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Retinoschisis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lithium carbonate5910.0ATP1B2, ATP1A3
2digoxin44 49 59 11 2413.4ATP1B2, ATP1A3, CST3
3adp44 28 2410.6ABCA4, PDHA1, PHKA2, DDR2, DDR1, ATP1A3

GO Terms for genes affiliated with Retinoschisis

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

idNameGO IDScoreTop Affiliating Genes
1sodium:potassium-exchanging ATPase complexGO:00589010.0ATP1B2, ATP1A3

Biological processes related to Retinoschisis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen-activated tyrosine kinase receptor signaling pathwayGO:03806310.0DDR1, DDR2
2regulation of extracellular matrix disassemblyGO:01071510.0DDR1, DDR2
3visual perceptionGO:0076019.5COL2A1, NDP, ABCA4, RS1
4extracellular matrix organizationGO:0301989.5DDR1, DDR2, TNC, COL2A1
5cell adhesionGO:0071558.9TNC, DDR2, DDR1, ATP1B2, RS1

Molecular functions related to Retinoschisis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase collagen receptor activityGO:03806210.0DDR1, DDR2
2sodium:potassium-exchanging ATPase activityGO:0053919.9ATP1B2, ATP1A3
3phosphatidylinositol-3,4,5-trisphosphate bindingGO:0055479.7RS1, ZFYVE1
4phosphatidylinositol-3,4-bisphosphate bindingGO:0433259.4RS1, ZFYVE1

Products for genes affiliated with Retinoschisis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinoschisis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet