Aliases & Classifications for Juvenile Retinoschisis

MalaCards integrated aliases for Juvenile Retinoschisis:

Name: Juvenile Retinoschisis 53 37 29 55 6
Retinoschisis Juvenile X Chromosome-Linked 53
Retinoschisis, Juvenile, X-Linked 73
X-Linked Juvenile Retinoschisis 53
X-Linked Retinoschisis 53
Retinoschisis X-Linked 53
Xjr 53

Classifications:



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KEGG 37 H01766
UMLS 73 C0271091

Summaries for Juvenile Retinoschisis

NIH Rare Diseases : 53 Juvenile retinoschisis is an eye condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. The condition affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. This affects the sharpness of vision. Central vision is more commonly affected. Vision often deteriorates early in life, but then usually becomes stable until late adulthood. A second decline in vision typically occurs in a man's fifties or sixties. Sometimes severe complications occur, including separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These can lead to blindness. Juvenile retinoschisis is caused by mutations in the RS1 gene. It is inherited in an X-linked recessive pattern. Low-vision aids can be helpful. Surgery may be needed for some complications.

MalaCards based summary : Juvenile Retinoschisis, also known as retinoschisis juvenile x chromosome-linked, is related to retinoschisis 1, x-linked, juvenile and hereditary night blindness. An important gene associated with Juvenile Retinoschisis is RS1 (Retinoschisin 1), and among its related pathways/superpathways are cAMP signaling pathway and Salivary secretion. The drugs Dorzolamide and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related phenotype is vision/eye.

Related Diseases for Juvenile Retinoschisis

Diseases in the Juvenile Retinoschisis family:

Retinoschisis, Autosomal Dominant

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

# Related Disease Score Top Affiliating Genes
1 retinoschisis 1, x-linked, juvenile 12.3
2 hereditary night blindness 11.1
3 retinitis 10.3
4 neovascular glaucoma 9.9
5 macular holes 9.9
6 fundus albipunctatus 9.8
7 retinal detachment 9.8
8 norrie disease 9.8
9 seizure disorder 9.2 ATP1A3 CDKL5
10 hemiplegic migraine 9.1 ATP1A3 ATP1B2

Graphical network of the top 20 diseases related to Juvenile Retinoschisis:



Diseases related to Juvenile Retinoschisis

Symptoms & Phenotypes for Juvenile Retinoschisis

MGI Mouse Phenotypes related to Juvenile Retinoschisis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.92 ATP1B2 CDKL5 PPEF1 RS1

Drugs & Therapeutics for Juvenile Retinoschisis

Drugs for Juvenile Retinoschisis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
2 Antihypertensive Agents Phase 4
3 Carbonic Anhydrase Inhibitors Phase 4
4
Brinzolamide Approved 138890-62-7 68844

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
2 Safety and Efficacy of rAAV-hRS1 in Patients With X-linked Retinoschisis (XLRS) Recruiting NCT02416622 Phase 1, Phase 2
3 Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis Recruiting NCT02317887 Phase 1, Phase 2
4 Clinical Evaluation of Patients With X-linked Retinoschisis Completed NCT02331173 Dorzolamide 2% TID or brinzolamide 1% TID
5 People s Expectations When Enrolling in a Phase I/II RS1 Ocular Gene Transfer Clinical Trial Completed NCT02317354
6 Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis Recruiting NCT00055029
7 Mothers Experiences With X-linked Retinoschisis Compared to Fathers Experiences Enrolling by invitation NCT03354403

Search NIH Clinical Center for Juvenile Retinoschisis

Genetic Tests for Juvenile Retinoschisis

Genetic tests related to Juvenile Retinoschisis:

# Genetic test Affiliating Genes
1 Juvenile Retinoschisis 29 RS1

Anatomical Context for Juvenile Retinoschisis

MalaCards organs/tissues related to Juvenile Retinoschisis:

41
Eye, Retina, Testes

Publications for Juvenile Retinoschisis

Articles related to Juvenile Retinoschisis:

(show top 50) (show all 137)
# Title Authors Year
1
Diurnal variations of foveoschisis by optical coherence tomography in patients with RS1 X-linked juvenile retinoschisis. ( 29902095 )
2018
2
Generation of induced pluripotent stem cells from a patient with X-linked juvenile retinoschisis. ( 29674172 )
2018
3
Segmented swept source optical coherence tomography angiography assessment of the perifoveal vasculature in patients with X-linked juvenile retinoschisis: a serial case report. ( 29081674 )
2017
4
Recapitulating X-Linked Juvenile Retinoschisis in Mouse Model by Knock-In Patient-Specific Novel Mutation. ( 29379415 )
2017
5
Treatment of cystic cavities in X-linked juvenile retinoschisis: The first sequential cross-over treatment regimen with dorzolamide. ( 29260104 )
2017
6
Assessment of Spectral-Domain Optical Coherence Tomography Findings in Three Cases of X-Linked Juvenile Retinoschisis in the Same Family. ( 29109902 )
2017
7
Optical Coherence Tomography Evolution in a Case of X-Linked Juvenile Retinoschisis: 15 Years of Follow-Up. ( 29033824 )
2017
8
Carbonic Anhydrase Inhibitors for the Treatment of Cystic Macular Lesions in Children With X-Linked Juvenile Retinoschisis. ( 27699410 )
2016
9
The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen-activated protein kinase signalling and apoptosis in the retina. ( 27995734 )
2016
10
Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis. ( 27997221 )
2016
11
En face swept-source optical coherence tomographic analysis of X-linked juvenile retinoschisis. ( 29503894 )
2016
12
Different foveal schisis patterns in each retinal layer in eyes with hereditary juvenile retinoschisis evaluated by en-face optical coherence tomography. ( 27853955 )
2016
13
Solid lipid nanoparticle-based vectors intended for the treatment of X-linked juvenile retinoschisis by gene therapy: In vivo approaches in Rs1h-deficient mouse model. ( 26400864 )
2015
14
A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family. ( 25168411 )
2014
15
X-LINKED JUVENILE RETINOSCHISIS IN A CONSANGUINEOUS FAMILY: Phenotypic Variability and Report of a Homozygous Female Patient. ( 25054456 )
2014
16
A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family. ( 25393829 )
2014
17
Genetic and phenotypic characteristics of six Chinese families with X-linked juvenile retinoschisis. ( 24238536 )
2013
18
Topical brinzolamide for foveal schisis in juvenile retinoschisis. ( 23541677 )
2013
19
X-linked juvenile retinoschisis in females and response to carbonic anhydrase inhibitors: case report and review of the literature. ( 23163265 )
2013
20
X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships. ( 24138048 )
2013
21
Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis. ( 25343070 )
2012
22
Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis. ( 23288992 )
2012
23
Dextran and protamine-based solid lipid nanoparticles as potential vectors for the treatment of X-linked juvenile retinoschisis. ( 22295905 )
2012
24
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. ( 22245536 )
2012
25
Novel RS1 mutations associated with X-linked juvenile retinoschisis. ( 22245991 )
2012
26
Thirty-two years follow-up of X-linked juvenile retinoschisis in a Chinese patient with RS1 mutation. ( 22171610 )
2012
27
Retinal expression of the X-linked juvenile retinoschisis (RS1) gene is controlled by an upstream CpG island and two opposing CRX-bound regions. ( 21392589 )
2011
28
Macular hole secondary to X-linked juvenile retinoschisis. ( 21323260 )
2011
29
The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis. ( 21196491 )
2011
30
Spontaneous closure of macular hole in a patient with x-linked juvenile retinoschisis. ( 25390677 )
2010
31
Common polymorphisms of the CFH, LOC 387715/ARMS2 and HTRA1 genes may not influence the intra-familial variability of X-linked juvenile retinoschisis. ( 21472264 )
2010
32
Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis. ( 20151283 )
2010
33
R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family. ( 20806044 )
2010
34
In vivo imaging of the mouse model of X-linked juvenile retinoschisis with fourier domain optical coherence tomography. ( 19182246 )
2009
35
Infantile vitreous hemorrhage as the initial presentation of X-linked juvenile retinoschisis. ( 19568363 )
2009
36
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. ( 19324861 )
2009
37
Genetic and clinical evaluation of juvenile retinoschisis. ( 19393523 )
2009
38
CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene. ( 18927113 )
2008
39
Use of topical dorzolamide for patients with X-linked juvenile retinoschisis: case report. ( 18516436 )
2008
40
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families. ( 18369700 )
2008
41
Molecular analysis of the XLRS1 gene in 4 females affected with X-linked juvenile retinoschisis. ( 18982040 )
2008
42
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. ( 19093009 )
2008
43
Outer retinal corrugations in x-linked juvenile retinoschisis. ( 17296908 )
2007
44
Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. ( 17615541 )
2007
45
Novel human pathological mutations. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. ( 17879437 )
2007
46
Identification of novel mutations in the XLRS1 gene in Chinese patients with X-linked juvenile retinoschisis. ( 17852193 )
2007
47
A novel truncating Rs1 mutation associated with X-linked juvenile retinoschisis. ( 17295148 )
2007
48
Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis. ( 16900931 )
2006
49
Unusual Phenotypic Expression of an XLRS1 Mutation in X-Linked Juvenile Retinoschisis. ( 16901436 )
2006
50
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. ( 16521240 )
2005

Variations for Juvenile Retinoschisis

ClinVar genetic disease variations for Juvenile Retinoschisis:

6
(show all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 RS1 NM_000330.3(RS1): c.286T> C (p.Trp96Arg) single nucleotide variant Pathogenic rs61752063 GRCh37 Chromosome X, 18665351: 18665351
2 RS1 NM_000330.3(RS1): c.286T> C (p.Trp96Arg) single nucleotide variant Pathogenic rs61752063 GRCh38 Chromosome X, 18647231: 18647231
3 RS1 NM_000330.3(RS1): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs61752067 GRCh37 Chromosome X, 18665333: 18665333
4 RS1 NM_000330.3(RS1): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs61752067 GRCh38 Chromosome X, 18647213: 18647213
5 RS1 NM_000330.3(RS1): c.214G> A (p.Glu72Lys) single nucleotide variant Pathogenic rs104894928 GRCh37 Chromosome X, 18665423: 18665423
6 RS1 NM_000330.3(RS1): c.214G> A (p.Glu72Lys) single nucleotide variant Pathogenic rs104894928 GRCh38 Chromosome X, 18647303: 18647303
7 RS1 NM_000330.3(RS1): c.216G> C (p.Glu72Asp) single nucleotide variant Pathogenic rs104894932 GRCh37 Chromosome X, 18665421: 18665421
8 RS1 NM_000330.3(RS1): c.216G> C (p.Glu72Asp) single nucleotide variant Pathogenic rs104894932 GRCh38 Chromosome X, 18647301: 18647301
9 RS1 NM_000330.3(RS1): c.221G> T (p.Gly74Val) single nucleotide variant Pathogenic rs104894933 GRCh37 Chromosome X, 18665416: 18665416
10 RS1 NM_000330.3(RS1): c.221G> T (p.Gly74Val) single nucleotide variant Pathogenic rs104894933 GRCh38 Chromosome X, 18647296: 18647296
11 RS1 NM_000330.3(RS1): c.325G> C (p.Gly109Arg) single nucleotide variant Pathogenic rs104894934 GRCh37 Chromosome X, 18665312: 18665312
12 RS1 NM_000330.3(RS1): c.325G> C (p.Gly109Arg) single nucleotide variant Pathogenic rs104894934 GRCh38 Chromosome X, 18647192: 18647192
13 RS1 NM_000330.3(RS1): c.38T> C (p.Leu13Pro) single nucleotide variant Pathogenic rs104894935 GRCh37 Chromosome X, 18690151: 18690151
14 RS1 NM_000330.3(RS1): c.38T> C (p.Leu13Pro) single nucleotide variant Pathogenic rs104894935 GRCh38 Chromosome X, 18672031: 18672031
15 RS1 NM_000330.3(RS1): c.667T> C (p.Cys223Arg) single nucleotide variant Pathogenic rs104894929 GRCh37 Chromosome X, 18660132: 18660132
16 RS1 NM_000330.3(RS1): c.667T> C (p.Cys223Arg) single nucleotide variant Pathogenic rs104894929 GRCh38 Chromosome X, 18642012: 18642012
17 RS1 RS1, 4-BP INS insertion Pathogenic
18 RS1 NM_000330.3(RS1): c.608C> T (p.Pro203Leu) single nucleotide variant Pathogenic rs104894930 GRCh37 Chromosome X, 18660191: 18660191
19 RS1 NM_000330.3(RS1): c.608C> T (p.Pro203Leu) single nucleotide variant Pathogenic rs104894930 GRCh38 Chromosome X, 18642071: 18642071
20 RS1 NM_000330.3(RS1): c.305G> A (p.Arg102Gln) single nucleotide variant Pathogenic rs61752068 GRCh37 Chromosome X, 18665332: 18665332
21 RS1 NM_000330.3(RS1): c.305G> A (p.Arg102Gln) single nucleotide variant Pathogenic rs61752068 GRCh38 Chromosome X, 18647212: 18647212
22 RS1 NM_000330.3(RS1): c.266A> G (p.Tyr89Cys) single nucleotide variant Likely pathogenic rs61752060 GRCh37 Chromosome X, 18665371: 18665371
23 RS1 NM_000330.3(RS1): c.266A> G (p.Tyr89Cys) single nucleotide variant Likely pathogenic rs61752060 GRCh38 Chromosome X, 18647251: 18647251
24 RS1 NM_000330.3(RS1): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic/Likely pathogenic rs61752159 GRCh37 Chromosome X, 18662650: 18662650
25 RS1 NM_000330.3(RS1): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic/Likely pathogenic rs61752159 GRCh38 Chromosome X, 18644530: 18644530
26 RS1 NM_000330.3(RS1): c.522+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs281865348 GRCh37 Chromosome X, 18662549: 18662549
27 RS1 NM_000330.3(RS1): c.522+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs281865348 GRCh38 Chromosome X, 18644429: 18644429
28 RS1 NM_000330.3(RS1): c.574C> T (p.Pro192Ser) single nucleotide variant Likely pathogenic rs61753174 GRCh37 Chromosome X, 18660225: 18660225
29 RS1 NM_000330.3(RS1): c.574C> T (p.Pro192Ser) single nucleotide variant Likely pathogenic rs61753174 GRCh38 Chromosome X, 18642105: 18642105
30 RS1 NM_000330.3(RS1): c.590G> A (p.Arg197His) single nucleotide variant Pathogenic/Likely pathogenic rs281865355 GRCh37 Chromosome X, 18660209: 18660209
31 RS1 NM_000330.3(RS1): c.590G> A (p.Arg197His) single nucleotide variant Pathogenic/Likely pathogenic rs281865355 GRCh38 Chromosome X, 18642089: 18642089
32 RS1 NM_000330.3(RS1): c.625C> T (p.Arg209Cys) single nucleotide variant Likely pathogenic rs281865361 GRCh37 Chromosome X, 18660174: 18660174
33 RS1 NM_000330.3(RS1): c.625C> T (p.Arg209Cys) single nucleotide variant Likely pathogenic rs281865361 GRCh38 Chromosome X, 18642054: 18642054
34 RS1 NM_000330.3(RS1): c.673T> C (p.Ter225Arg) single nucleotide variant Likely pathogenic rs1057517433 GRCh37 Chromosome X, 18660126: 18660126
35 RS1 NM_000330.3(RS1): c.673T> C (p.Ter225Arg) single nucleotide variant Likely pathogenic rs1057517433 GRCh38 Chromosome X, 18642006: 18642006
36 RS1 NM_000330.3(RS1): c.498C> A (p.Tyr166Ter) single nucleotide variant Likely pathogenic rs1057516744 GRCh38 Chromosome X, 18644454: 18644454
37 RS1 NM_000330.3(RS1): c.498C> A (p.Tyr166Ter) single nucleotide variant Likely pathogenic rs1057516744 GRCh37 Chromosome X, 18662574: 18662574

Expression for Juvenile Retinoschisis

Search GEO for disease gene expression data for Juvenile Retinoschisis.

Pathways for Juvenile Retinoschisis

GO Terms for Juvenile Retinoschisis

Cellular components related to Juvenile Retinoschisis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium:potassium-exchanging ATPase complex GO:0005890 8.62 ATP1A3 ATP1B2

Biological processes related to Juvenile Retinoschisis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium ion transport GO:0006813 9.46 ATP1A3 ATP1B2
2 sodium ion transport GO:0006814 9.43 ATP1A3 ATP1B2
3 regulation of cardiac conduction GO:1903779 9.4 ATP1A3 ATP1B2
4 potassium ion import GO:0010107 9.37 ATP1A3 ATP1B2
5 cellular sodium ion homeostasis GO:0006883 9.32 ATP1A3 ATP1B2
6 cellular potassium ion homeostasis GO:0030007 9.26 ATP1A3 ATP1B2
7 sodium ion export across plasma membrane GO:0036376 9.16 ATP1A3 ATP1B2
8 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 8.96 ATP1A3 ATP1B2
9 cell communication by electrical coupling involved in cardiac conduction GO:0086064 8.62 ATP1A3 ATP1B2

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

# Name GO ID Score Top Affiliating Genes
1 sodium:potassium-exchanging ATPase activity GO:0005391 8.62 ATP1A3 ATP1B2

Sources for Juvenile Retinoschisis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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45 MESH via Orphanet
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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