XLRS
MCID: RTN025
MIFTS: 59

Retinoschisis (XLRS) malady

Genetic diseases, Eye diseases, Fetal diseases, Rare diseases categories
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Summaries for Retinoschisis

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Wikipedia:65 Retinoschisis is an eye disease characterized by the abnormal splitting of the retina\'s neurosensory... more...

MalaCards based summary: Retinoschisis, also known as x-linked retinoschisis, is related to x-linked juvenile retinoschisis and retinal detachment, 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 Ion transport by P-type ATPases and Carbohydrate digestion and absorption. The compounds lithium carbonate and cystine 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, 62UMLS, 48Orphanet, 39NCIt, 57SNOMED-CT, 27ICD9CM, 34MeSH, 26ICD10 via Orphanet
See all sources

Retinoschisis, Aliases & Descriptions:

Name: Retinoschisis 8 9 46 10 62
X-Linked Retinoschisis 48 62
Retinoschisis, Juvenile, X-Linked 62
X-Linked Juvenile Retinoschisis 48
 
Retinoschisis, Unspecified 8
Retinoschisis Unspecified 8
Xlrs 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:8465
NCIt39 C85046
ICD9CM27 361.10
MeSH34 D041441
OMIM46 312700
ICD10 via Orphanet26 Q14.1

Related Diseases for Retinoschisis

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Graphical network of the top 20 diseases related to Retinoschisis:



Diseases related to retinoschisis

Symptoms for Retinoschisis

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Symptoms by clinical synopsis from OMIM:

312700

Clinical features from OMIM:

312700

Symptoms:

48 (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

HPO human phenotypes related to Retinoschisis:

(show all 12)
id Description Frequency HPO Source Accession
1 abnormality of eye movement hallmark (90%) HP:0000496
2 glaucoma hallmark (90%) HP:0000501
3 abnormal electroretinogram hallmark (90%) HP:0000512
4 cataract hallmark (90%) HP:0000518
5 chorioretinal coloboma hallmark (90%) HP:0000567
6 progressive visual loss HP:0000529
7 retinal detachment HP:0000541
8 retinal atrophy HP:0001105
9 choroidal sclerosis HP:0001150
10 x-linked dominant inheritance HP:0001423
11 cystic retinal degeneration HP:0007667
12 reduced amplitude of b-wave (erg) HP:0007984

Drugs & Therapeutics for Retinoschisis

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Drug clinical trials:

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Genetic Tests for Retinoschisis

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Anatomical Context for Retinoschisis

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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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MGI Mouse Phenotypes related to Retinoschisis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.4ATP1B2, RS1, BEST1, COL2A1, NDP, PPEF1
2MP:00036316.1NDP, ATP1B2, ATP1A3, RS1, TNC, ZFX

Publications for Retinoschisis

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Articles related to Retinoschisis:

(show top 50)    (show all 510)
idTitleAuthorsYear
1
Pars plana vitrectomy in patients with myopic macular retinoschisis. (24414402)
2014
2
A long-term follow-up of peripapillary retinoschisis with optic disc hypoplasia. (23150047)
2013
3
Resolution of Mid-Peripheral Schisis in X-Linked Retinoschisis with the Use of Dorzolamide. (23514609)
2013
4
Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis. (25343070)
2012
5
Thirty-two years follow-up of X-linked juvenile retinoschisis in a Chinese patient with RS1 mutation. (22171610)
2012
6
Recurrent macular detachment and retinoschisis associated with intrachoroidal cavitation in a normal eye. (22679435)
2012
7
Retinoschisis: a predictive factor in vitrectomy for macular holes without retinal detachment in highly myopic eyes. (21586755)
2012
8
Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene. (22110067)
2011
9
Hemorrhagic Retinoschisis in Shaken Baby Syndrome Imaged with Spectral Domain Optical Coherence Tomography. (20337286)
2010
10
Optical Coherence Tomography Findings in Patients with Degenerative Retinoschisis and Symptomatic Retinal Detachment. (20337329)
2010
11
Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis. (20151283)
2010
12
In vivo imaging of the mouse model of X-linked juvenile retinoschisis with fourier domain optical coherence tomography. (19182246)
2009
13
Nanophthalmos and acquired retinoschisis. (18834578)
2009
14
Ultrasonographic documentation of a spontaneously resolved peripheral senescent retinoschisis. (18982048)
2008
15
Acetazolamide in the treatment of X-linked retinoschisis maculopathy. (17420384)
2007
16
Elevated levels of cystatin C and tenascin-C in schisis cavities of patients with congenital X-linked retinoschisis. (18040250)
2007
17
Vitrectomy for myopic posterior retinoschisis or foveal detachment. (16453188)
2006
18
STRATUS optical coherence tomography in unilateral colobomatous excavation of the optic disc and secondary retinoschisis. (15660280)
2005
19
Fundus findings and longitudinal study of visual acuity loss in patients with X-linked retinoschisis. (16077359)
2005
20
Retinal changes in juvenile X linked retinoschisis using three dimensional optical coherence tomography. (16299154)
2005
21
Neovascular glaucoma in a patient with X-linked juvenile retinoschisis. (17162850)
2005
22
Foveal schisis as a cause of retinal detachment secondary to macular hole in juvenile X-linked retinoschisis. (15805920)
2005
23
Optical coherence tomography findings in familiar foveal retinoschisis. (15183819)
2004
24
Optical coherence tomography in the diagnosis of juvenile X-linked retinoschisis. (15043546)
2004
25
Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. (15531314)
2004
26
Consanguineous marriage resulting in homozygous occurrence of X-linked retinoschisis in girls. (14516833)
2003
27
Elevated macular retinoschisis associated with Goldmann-Favre syndrome successfully treated with grid laser photocoagulation. (11927864)
2002
28
Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis. (12383832)
2002
29
Foveal ectopia in X-linked retinoschisis. (11508883)
2001
30
Axial length and refractive error in X-linked retinoschisis. (11384589)
2001
31
Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the XLRS1 gene. (11594966)
2001
32
Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. (10450864)
1999
33
Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene. (10051329)
1999
34
Surgical management of retinoschisis. (10168899)
1997
35
Use of perfluorocarbon liquid in the repair of retinoschisis retinal detachments. (8878197)
1996
36
Secondary retinoschisis in a dog. (7490341)
1995
37
X-Linked Juvenile Retinoschisis (20301401)
1993
38
Contribution to carrier detection and genetic counselling in X linked retinoschisis. (1678432)
1991
39
The management of retinal detachment complicating degenerative retinoschisis. (2913811)
1989
40
Traumatic retinoschisis in battered babies. (3725321)
1986
41
Long-term natural history study of senile retinoschisis with implications for management. (3808625)
1986
42
Retinal hamartoma, acquired retinoschisis, and retinal hole. (4003506)
1985
43
Congenital hereditary retinoschisis: evolution at the initial stage. (6915726)
1981
44
Familial foveal retinoschisis associated with a rod-cone dystrophy. (306756)
1978
45
The natural history of senile retinoschisis. (960371)
1976
46
Retinoschisis. (1230226)
1975
47
Senile retinoschisis. Relationship to cystoid degeneration. (5434997)
1970
48
Cryosurgery in the treatment of retinoschisis and retinal detachment. (5797486)
1969
49
HEREDITARY RETINOSCHISIS WITH RETINAL DETACHMENT. (14137967)
1964
50
Central retinoschisis. A case developed after central vein thrombosis. (14480367)
1961

Variations for Retinoschisis

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UniProtKB/Swiss-Prot genetic disease variations for Retinoschisis:

64 (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

Clinvar genetic disease variations for Retinoschisis:

6 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1NM_000330.3(RS1): c.286T> C (p.Trp96Arg)single nucleotide variantPathogenicrs61752063GRCh37Chr X, 18665351: 18665351
2NM_000330.3(RS1): c.304C> T (p.Arg102Trp)single nucleotide variantPathogenicrs61752067GRCh37Chr X, 18665333: 18665333
3NM_000330.3(RS1): c.214G> A (p.Glu72Lys)single nucleotide variantPathogenicrs104894928GRCh37Chr X, 18665423: 18665423
4NM_000330.3(RS1): c.216G> C (p.Glu72Asp)single nucleotide variantPathogenicrs104894932GRCh37Chr X, 18665421: 18665421
5NM_000330.3(RS1): c.221G> T (p.Gly74Val)single nucleotide variantPathogenicrs104894933GRCh37Chr X, 18665416: 18665416
6NM_000330.3(RS1): c.325G> C (p.Gly109Arg)single nucleotide variantPathogenicrs104894934GRCh37Chr X, 18665312: 18665312
7RS1NM_000330.3(RS1): c.38T> C (p.Leu13Pro)single nucleotide variantPathogenicrs104894935GRCh37Chr X, 18690151: 18690151
8NM_000330.3(RS1): c.667T> C (p.Cys223Arg)single nucleotide variantPathogenicrs104894929GRCh37Chr X, 18660132: 18660132
9RS1RS1, 4-BP INSinsertionPathogenic
10NM_000330.3(RS1): c.608C> T (p.Pro203Leu)single nucleotide variantPathogenicrs104894930GRCh37Chr X, 18660191: 18660191
11NM_000330.3(RS1): c.305G> A (p.Arg102Gln)single nucleotide variantPathogenicrs61752068GRCh37Chr X, 18665332: 18665332

Expression for genes affiliated with Retinoschisis

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Expression patterns in normal tissues for genes affiliated with Retinoschisis

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Pathways for genes affiliated with Retinoschisis

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Compounds for genes affiliated with Retinoschisis

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Compounds related to Retinoschisis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lithium carbonate619.9ATP1A3, ATP1B2
2cystine449.9CST3, NDP
3digoxin44 61 50 24 1113.6CST3, ATP1A3, ATP1B2
4chloramphenicol44 2 50 1112.5PDHA1, COL2A1, TNC
5Phosphate249.2ATP1A3, ATP1B2, PPEF1
6cysteine448.9TNC, COL2A1, CST3, PDHA1, NDP
7adp44 28 2410.8ATP1B2, ATP1A3, PDHA1, PHKA2
8calcium44 50 24 1111.1PHKA2, CST3, COL2A1, BEST1, TNC, PPEF1

GO Terms for genes affiliated with Retinoschisis

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Cellular components related to Retinoschisis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium:potassium-exchanging ATPase complexGO:0058909.5ATP1A3, ATP1B2
2extracellular spaceGO:0056158.9NDP, CST3, COL2A1, TNC, RS1

Biological processes related to Retinoschisis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion transmembrane transportGO:0342209.5BEST1, ATP1A3, ATP1B2
2visual perceptionGO:0076019.1NDP, COL2A1, BEST1, RS1

Molecular functions related to Retinoschisis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium:potassium-exchanging ATPase activityGO:0053919.8ATP1A3, ATP1B2

Products for genes affiliated with Retinoschisis

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet