XLRS
MCID: RTN025
MIFTS: 47

Retinoschisis (XLRS) malady

Eye, Fetal categories

Summaries for Retinoschisis

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 x-linked juvenile retinoschisis and blindness, and has symptoms including anomalies of eyes and vision, glaucoma and cataract/lens opacification. 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. Related mouse phenotypes are vision/eye and nervous system.

Description from OMIM:47 312700

Aliases & Classifications for Retinoschisis

Sources:
8Disease Ontology, 9diseasecard, 47OMIM, 10DISEASES, 61UMLS, 49Orphanet, 27ICD9CM, 57SNOMED-CT, 40NCIt, 35MeSH, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 47 10 61
retinoschisis, juvenile, x-linked 61
x-linked juvenile retinoschisis 49
retinoschisis, unspecified 8
retinoschisis unspecified 8
x-linked retinoschisis 49
xlrs 49


External Ids:

Disease Ontology8 DOID:8465
ICD9CM27 361.10
NCIt40 C85046
MeSH35 D041441
OMIM47 312700
ICD10 via Orphanet26 Q14.1

Related Diseases for Retinoschisis

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 101)
idRelated DiseaseScoreTop Affiliating Genes
1x-linked juvenile retinoschisis31.1RS1
2blindness29.7ABCA4, RS1, NDP, COL2A1
3bullous retinoschisis10.2
4retinoschisis autosomal dominant10.2
5retinoschisis of fovea10.2
6macular holes10.2
7neovascular glaucoma10.1
8flat retinoschisis10.1
9norrie disease10.1
10goldmann-favre syndrome10.1
11proliferative diabetic retinopathy10.0
12coloboma10.0
13juvenile glaucoma10.0
14vitreous detachment10.0
15uveitis10.0
16shaken baby syndrome10.0
17cerebroretinal microangiopathy with calcifications and cysts10.0NDP
18vitreoretinal dystrophy10.0SKP1
19night blindness10.0ABCA4
20coffin-lowry syndrome10.0SKP1, PDHA1
21retinal detachment10.0RS1, NDP, COL2A1
22retinal degeneration10.0ABCA4, RS1
23eye disease10.0RS1, ABCA4, NDP
24retinal disease10.0NDP, ABCA4, RS1
25thrombocytopenia-absent radius syndrome9.9
26incontinentia pigmenti achromians9.9
27spondyloepiphyseal dysplasia congenita9.9
28pars planitis9.9
29fundus albipunctatus9.9
30congenital stationary night blindness9.9
31branchiooculofacial syndrome9.9
32retinitis pigmentosa9.9
33coats disease9.9
34microcephaly9.9
35aicardi syndrome9.9
36fetal alcohol syndrome9.9
37adult syndrome9.9
38n syndrome9.9
39cone dystrophy9.9
40amblyopia9.9
41aplastic anemia9.9
42turner syndrome9.9
43x-linked disease9.9
44micro syndrome9.9
45charge syndrome9.9
46donnai-barrow syndrome9.9
47renal coloboma syndrome9.9
48townes-brocks syndrome9.9
49short syndrome9.9
50abruzzo erickson syndrome9.9

Graphical network of the top 20 diseases related to Retinoschisis:



Diseases related to retinoschisis

Clinical Features for Retinoschisis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

312700

Clinical synopsis from OMIM:

312700

Symptoms:

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

Drugs & Therapeutics for Retinoschisis

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Retinoschisis

Animal Models for Retinoschisis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Retinoschisis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.2NDP, PPEF1, DDR2, ATP1B2, ABCA4, RGS11
2MP:00036316.5RS1, COL2A1, NDP, SARM1, PDHA1, CST3

Publications for Retinoschisis

Sources:
51PubMed
See all sources

Articles related to Retinoschisis:

(show top 50)    (show all 492)
idTitleAuthorsYear
1
Foveal involvement by acquired retinoschisis: long-term visual outcomes. (23099496)
2013
2
Peripapillary and macular retinoschisis in a patient with pseudoexfoliation glaucoma. (23729710)
2013
3
Retinoschisis and macular detachment associated with acquired enlarged optic disc cup. (22536032)
2012
4
Long-term outcomes of vitrectomy for progressive X-linked retinoschisis. (22541657)
2012
5
Function and morphology in macular retinoschisis associated with optic disc pit in a child before and after its spontaneous resolution. (22322392)
2012
6
Novel clinical manifestation of congenital X-linked retinoschisis. (22332228)
2012
7
Effect of aging on macular features of X-linked retinoschisis assessed with optical coherence tomography. (21386765)
2011
8
Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome? (21204205)
2011
9
Partial regression of degenerative retinoschisis associated with epiretinal membrane after vitrectomy. (20213622)
2010
10
Retinoschisis detected with handheld spectral-domain optical coherence tomography in neonates with advanced retinopathy of prematurity. (20065217)
2010
11
R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family. (20806044)
2010
12
Scleral buckle for progressive symptomatic retinal detachment complicating retinoschisis versus primary rhegmatogenous retinal detachment. (20379303)
2010
13
Nanophthalmos and acquired retinoschisis. (18834578)
2009
14
Spectral-domain OCT and microperimeter characterization of morphological and functional changes in X-linked retinoschisis. (19205503)
2009
15
Macular spectral-domain optical coherence tomography in patients with X linked retinoschisis. (19019942)
2009
16
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. (19093009)
2008
17
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families. (18369700)
2008
18
Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography. (18541843)
2008
19
Use of topical dorzolamide for patients with X-linked juvenile retinoschisis: case report. (18516436)
2008
20
Retinoschisis at macular area in highly myopic eye by optic coherence tomography. (17162905)
2006
21
Unusual Phenotypic Expression of an XLRS1 Mutation in X-Linked Juvenile Retinoschisis. (16901436)
2006
22
X-linked retinoschisis: novel mutation in the initiation codon of the XLRS1 gene in a large family. (17031297)
2006
23
Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease. (16272055)
2005
24
Characteristics of contrast processing deficits in X-linked retinoschisis. (15845241)
2005
25
Optical coherence tomography findings in familiar foveal retinoschisis. (15183819)
2004
26
Retinal detachment 7 years after prophylactic schisis cavity excision in juvenile X-linked retinoschisis. (14509466)
2003
27
Peripheral retinoschisis and exudative retinal detachment in pars planitis. (12476097)
2002
28
Optical coherence tomography and multifocal electroretinography of X-linked juvenile retinoschisis. (11827010)
2001
29
Temporal frequency deficits in the electroretinogram of the cone system in X-linked retinoschisis. (10960656)
2000
30
Pneumatic retinopexy in a progressive rhegmatogenous retinoschisis retinal detachment. (10815170)
2000
31
Differentiation of degenerative retinoschisis from retinal detachment using optical coherence tomography. (10080221)
1999
32
A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation. (10415464)
1999
33
Optic disc neovascularization following severe retinoschisis due to shaken baby syndrome. (10369604)
1999
34
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. (10533068)
1999
35
Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene. (9760195)
1998
36
Exudative retinal detachment in X-linked retinoschisis. (9571668)
1998
37
X-linked juvenile retinoschisis (RS) maps between DXS987 and DXS443. (7835082)
1995
38
X-Linked Juvenile Retinoschisis (20301401)
1993
39
DNA linkage analysis of X-linked retinoschisis. (2894345)
1988
40
Hereditary X-linked retinoschisis and bilateral congenital retinal detachment. (3602602)
1987
41
Macular function in typical and reticular retinoschisis. (7348852)
1981
42
Familial foveal retinoschisis associated with a rod-cone dystrophy. (306756)
1978
43
The natural evolution of juvenile retinoschisis (presentation of a case). (4705530)
1973
44
Typical and reticular degenerative retinoschisis. (4572333)
1973
45
Juvenile sex-linked recessive retinoschisis in a black family. (4646724)
1972
46
Juvenile sex-linked retinoschisis: clinical and genetic studies. (5097816)
1971
47
Cryosurgery in the treatment of retinoschisis and retinal detachment. (5797486)
1969
48
Clinical study of senile retinoschisis. (5635087)
1968
49
Histopathology of juvenile retinoschisis. (5635090)
1968
50
HEREDITARY RETINOSCHISIS WITH RETINAL DETACHMENT. (14137967)
1964

Genetic Variations for Retinoschisis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Retinoschisis:

63 (show all 64)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
12EMD Millipore, 30KEGG, 52QIAGEN, 54Reactome
See all sources

Compounds for genes affiliated with Retinoschisis

Sources:
60Tocris Bioscience, 45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR
See all sources

Compounds related to Retinoschisis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lithium carbonate6010.0ATP1B2, ATP1A3
2digoxin45 50 60 11 2413.4ATP1B2, ATP1A3, CST3
3adp45 29 2410.6ABCA4, PDHA1, PHKA2, DDR2, DDR1, ATP1A3

GO Terms for genes affiliated with Retinoschisis

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinoschisis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet