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 glaucoma, retinoschisis/retinal/chorioretinal coloboma and x-linked recessive inheritance. 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, 48Orphanet, 60UMLS, 27ICD9CM, 56SNOMED-CT, 39NCIt, 34MeSH, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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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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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)
  • glaucoma
  • retinoschisis/retinal/chorioretinal coloboma
  • x-linked recessive inheritance
  • abnormal erg/electroretinogram/electroretinography
  • anomalies of eyes and vision
  • cataract/lens opacification
  • abnormal eye movements/oculomotor disorder

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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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
Correspondence to: Use of spectral-domain optical coherence tomography to differentiate acquired retinoschisis from retinal detachment in difficult cases. (23619635)
2013
2
Bilateral foveal retinoschisis accompanying unilateral peripheral retinoschisis. (23571248)
2013
3
Vitrectomy for X-linked retinoschisis: a case report and literature review. (23931486)
2013
4
Spontaneous anatomical and visual improvement in myopic macular retinoschisis. (24044717)
2013
5
Acquired retinoschisis with giant outer layer break and retinal detachment. (23709331)
2013
6
Recurrent macular detachment and retinoschisis associated with intrachoroidal cavitation in a normal eye. (22679435)
2012
7
Two cases of X-linked retinoschisis with different spectral domain optical coherence tomography findings. (23055679)
2012
8
Bilateral macular holes in X-linked retinoschisis: now the spectrum is wider. (22011501)
2011
9
Long-term 12 year follow-up of X-linked congenital retinoschisis. (20569020)
2010
10
Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. (20809529)
2010
11
In vivo imaging of the mouse model of X-linked juvenile retinoschisis with fourier domain optical coherence tomography. (19182246)
2009
12
Gene symbol: RS1. Disease: Retinoschisis, X linked juvenile. (18846643)
2008
13
Acetazolamide in the treatment of X-linked retinoschisis maculopathy. (17420384)
2007
14
Elevated levels of cystatin C and tenascin-C in schisis cavities of patients with congenital X-linked retinoschisis. (18040250)
2007
15
Novel phenotypic and genotypic findings in X-linked retinoschisis. (17296904)
2007
16
Novel human pathological mutations. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (17879437)
2007
17
A novel truncating Rs1 mutation associated with X-linked juvenile retinoschisis. (17295148)
2007
18
Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis. (16900931)
2006
19
A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. (16768192)
2006
20
Foveal retinal detachment and retinoschisis without macular hole associated with tilted disc syndrome. (17180539)
2006
21
Fundus findings and longitudinal study of visual acuity loss in patients with X-linked retinoschisis. (16077359)
2005
22
Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia. (15932525)
2005
23
Optical coherence tomography in enhanced S-cone syndrome: large macular retinoschisis with disorganized retinal lamination. (16167297)
2005
24
Vitreal pathogenic role in optic pit foveolar retinoschisis and central serous retinopathy. (14632616)
2003
25
Perspectives on the management of the complications of senile retinoschisis. (12101441)
2002
26
Coats'-like response in blood-filled senile retinoschisis. (12424408)
2002
27
Coats' disease and congenital retinoschisis in a single eye: a case report and DNA analysis. (11244345)
2001
28
Treatment of posterior persistent hyperplastic primary vitreous complicated by tractional retinoschisis in an adult. (11508890)
2001
29
Bilateral retinoschisis, retinal neovascularization, and severe myopia in a young female. (11011718)
2000
30
A case of juvenile retinoschisis diagnosed by analysis of the XLRS 1 gene (10913663)
2000
31
Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation. (11035549)
2000
32
Golden tapetal-like fundus reflex and posterior hyaloid in a patient with x-linked juvenile retinoschisis. (10048383)
1999
33
The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors. (10023077)
1999
34
Intragenic polymorphic missense mutations in the XLRS1 gene in families with juvenile X-linked retinoschisis. (10453744)
1999
35
First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis. (10636740)
1999
36
A case of a combination of Oguchi's disease and congenital retinoschisis. (9693296)
1998
37
Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis. (9402977)
1997
38
Use of perfluorocarbon liquid in the repair of retinoschisis retinal detachments. (8878197)
1996
39
Clinical features in affected males with X-linked retinoschisis. (8600886)
1996
40
Focal macular electroretinogram in X-linked congenital retinoschisis. (8449671)
1993
41
X-linked retinoschisis and linkage. (3359666)
1988
42
Congenital hereditary sex-linked retinoschisis. (739324)
1978
43
Photocoagulation in the diagnosis of senile retinoschisis. (561545)
1977
44
Surgery of senile peripheral cystic retinoschisis with encircling silastic 3 mm band without evacuation of the cyst fluid. (4466520)
1974
45
Fluorescein angiography in X-chromosomal maculopathy with retinoschisis (juvenile hereditary retinoschisis). (5057945)
1972
46
Giant tear dialysis in the outer layer of retinoschisis. (5053261)
1972
47
Retinoschisis and retinal detachment. (5773465)
1969
48
Retinoschisis: pathogenesis and treatment. (5727754)
1968
49
Photocoagulation treatment of retinoschisis. (5227212)
1965
50
The pathologic anatomy of retinoschisis with a report of two cases diagnosed clinically as malignant melanoma. (13847542)
1960

Genetic Variations for Retinoschisis

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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:03806310.0DDR2, DDR1
2regulation of extracellular matrix disassemblyGO:01071510.0DDR2, DDR1
3visual perceptionGO:0076019.5COL2A1, NDP, ABCA4, RS1
4extracellular matrix organizationGO:0301989.5DDR1, TNC, COL2A1, DDR2
5cell adhesionGO:0071558.9ATP1B2, RS1, DDR1, DDR2, TNC

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