XJR
MCID: XLN014
MIFTS: 41

X-Linked Juvenile Retinoschisis (XJR) malady

Genetic diseases, Rare diseases categories
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Summaries for X-Linked Juvenile Retinoschisis

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Genetics Home Reference:21 X-linked juvenile retinoschisis is a genetic eye disorder that impairs normal vision. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual acuity). Typically, X-linked juvenile retinoschisis affects cells in the central area of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. X-linked juvenile retinoschisis is one type of a broader disorder called macular degeneration, which involves disruption in the normal functioning of the macula. Occasionally, side (peripheral) vision is affected in people with X-linked juvenile retinoschisis.

MalaCards based summary: X-Linked Juvenile Retinoschisis, also known as juvenile retinoschisis, is related to retinoschisis and retinitis. An important gene associated with X-Linked Juvenile Retinoschisis is RS1 (retinoschisin 1), and among its related pathways are Insulin secretion and Pancreatic secretion. The compounds lithium carbonate and digoxin have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related mouse phenotype vision/eye.

NIH Rare Diseases:42 Juvenile retinoschisis is an eye condition that begins to affect vision before age 10. this condition occurs almost exclusively in males. vision often deteriorates early in life, but then usually becomes stable until late adulthood. juvenile retinoschisis is caused by mutations in the rs1 gene, and this condition is inherited in an x-linked recessive pattern. last updated: 2/23/2010

GeneReviews summary for retinoschisis

Aliases & Classifications for X-Linked Juvenile Retinoschisis

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X-Linked Juvenile Retinoschisis, Aliases & Descriptions:

Name: X-Linked Juvenile Retinoschisis 19 42 20 21
Juvenile Retinoschisis 19 42 22 21 44
X-Linked Retinoschisis 19 42 21
Retinoschisis, Juvenile, X-Linked 21 62
Retinoschisis Juvenile X Chromosome-Linked 42
 
Congenital X-Linked Retinoschisis 21
Retinoschisis, Degenerative 21
Retinoschisis X-Linked 42
Xjr 42


Classifications:

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


Related Diseases for X-Linked Juvenile Retinoschisis

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1retinoschisis32.3RS1
2retinitis10.7
3macular holes10.5
4neovascular glaucoma10.5
5norrie disease10.3
6retinitis pigmentosa10.2
7congenital stationary night blindness10.2
8night blindness10.2
9refractive error10.2
10blindness10.2
11fundus albipunctatus10.1
12retinal detachment10.1

Graphical network of diseases related to X-Linked Juvenile Retinoschisis:



Diseases related to x-linked juvenile retinoschisis

Symptoms for X-Linked Juvenile Retinoschisis

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Drugs & Therapeutics for X-Linked Juvenile Retinoschisis

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Drug clinical trials:

Search ClinicalTrials for X-Linked Juvenile Retinoschisis

Search NIH Clinical Center for X-Linked Juvenile Retinoschisis

Genetic Tests for X-Linked Juvenile Retinoschisis

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Genetic tests related to X-Linked Juvenile Retinoschisis:

id Genetic test Affiliating Genes
1 X-Linked Juvenile Retinoschisis20 RS1
2 Juvenile Retinoschisis22

Anatomical Context for X-Linked Juvenile Retinoschisis

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MalaCards organs/tissues related to X-Linked Juvenile Retinoschisis:

32
Eye, Retina

Animal Models for X-Linked Juvenile Retinoschisis or affiliated genes

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MGI Mouse Phenotypes related to X-Linked Juvenile Retinoschisis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.6RS1, ATP1B2, PPEF1

Publications for X-Linked Juvenile Retinoschisis

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Articles related to X-Linked Juvenile Retinoschisis:

(show top 50)    (show all 89)
idTitleAuthorsYear
1
A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family. (25393829)
2014
2
Genetic and phenotypic characteristics of six Chinese families with X-linked juvenile retinoschisis. (24238536)
2013
3
X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships. (24138048)
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
Dextran and protamine-based solid lipid nanoparticles as potential vectors for the treatment of X-linked juvenile retinoschisis. (22295905)
2012
7
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
8
The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis. (21196491)
2011
9
Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis. (20151283)
2010
10
Spontaneous closure of macular hole in a patient with x-linked juvenile retinoschisis. (25390677)
2010
11
R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family. (20806044)
2010
12
In vivo imaging of the mouse model of X-linked juvenile retinoschisis with fourier domain optical coherence tomography. (19182246)
2009
13
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. (19324861)
2009
14
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. (19093009)
2008
15
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families. (18369700)
2008
16
Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis. (16900931)
2006
17
Unusual Phenotypic Expression of an XLRS1 Mutation in X-Linked Juvenile Retinoschisis. (16901436)
2006
18
Neovascular glaucoma in a patient with X-linked juvenile retinoschisis. (17162850)
2005
19
DNA analysis for diagnosis of x-linked juvenile retinoschisis when clinical examination is difficult in a young child. (15944839)
2005
20
Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis. (16027044)
2005
21
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (16521245)
2005
22
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (16521243)
2005
23
Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis. (14986011)
2004
24
The multifocal electroretinogram in X-linked juvenile retinoschisis. (12737502)
2003
25
Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. (12928282)
2003
26
Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis. (12383832)
2002
27
Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene. (12457918)
2002
28
Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. (11983912)
2002
29
Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the XLRS1 gene. (11594966)
2001
30
On- and off-responses of the photopic electroretinograms in X-linked juvenile retinoschisis. (11292413)
2001
31
Optical coherence tomography and multifocal electroretinography of X-linked juvenile retinoschisis. (11827010)
2001
32
X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci? (11281412)
2001
33
Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation. (11035549)
2000
34
X-Linked juvenile retinoschisis associated with a 4-base pair insertion at codon 55 of the XLRS1 gene. (10679210)
2000
35
Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. (10450864)
1999
36
Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene. (10051329)
1999
37
Three widespread founder mutations contribute to high incidence of X- linked juvenile retinoschisis in Finland. (10234514)
1999
38
Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. (10220153)
1999
39
A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation. (10415464)
1999
40
The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors. (10023077)
1999
41
Positional cloning of the gene associated with X-linked juvenile retinoschisis. (9326935)
1997
42
Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis. (9150161)
1997
43
Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis. (9402977)
1997
44
X-linked juvenile retinoschisis (RS) maps between DXS987 and DXS443. (7835082)
1995
45
Efficient DNA carrier detection in X linked juvenile retinoschisis. (7662636)
1995
46
Refinement of the chromosomal position of the X linked juvenile retinoschisis gene. (7891384)
1994
47
X-Linked Juvenile Retinoschisis (20301401)
1993
48
Multipoint linkage analysis in X-linked juvenile retinoschisis. (8500256)
1993
49
Refined localization of the gene causing X-linked juvenile retinoschisis. (2032721)
1991
50
X-linked juvenile retinoschisis. (6682127)
1983

Variations for X-Linked Juvenile Retinoschisis

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Clinvar genetic disease variations for X-Linked Juvenile Retinoschisis:

6
id Gene Name Type Significance SNP ID Assembly Location
1NM_000330.3(RS1): c.667T> C (p.Cys223Arg)single nucleotide variantPathogenicrs104894929GRCh37Chr X, 18660132: 18660132

Expression for genes affiliated with X-Linked Juvenile Retinoschisis

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Expression patterns in normal tissues for genes affiliated with X-Linked Juvenile Retinoschisis

Search GEO for disease gene expression data for X-Linked Juvenile Retinoschisis.

Pathways for genes affiliated with X-Linked Juvenile Retinoschisis

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Compounds for genes affiliated with X-Linked Juvenile Retinoschisis

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Compounds related to X-Linked Juvenile Retinoschisis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lithium carbonate619.2ATP1A3, ATP1B2
2digoxin44 61 50 24 1113.1ATP1A3, ATP1B2
3sodium44 2410.0ATP1A3, ATP1B2
4potassium44 24 1110.7ATP1A3, ATP1B2
5Phosphate248.6ATP1A3, ATP1B2, PPEF1
6magnesium44 24 1110.5PPEF1, ATP1B2, ATP1A3
7Water248.4ATP1A3, ATP1B2, PPEF1

GO Terms for genes affiliated with X-Linked Juvenile Retinoschisis

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Cellular components related to X-Linked Juvenile Retinoschisis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium:potassium-exchanging ATPase complexGO:0058909.0ATP1A3, ATP1B2

Biological processes related to X-Linked Juvenile Retinoschisis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell adhesionGO:0071559.1RS1, ATP1B2
2sodium ion transmembrane transportGO:0357258.9ATP1A3, ATP1B2
3ion transmembrane transportGO:0342208.7ATP1A3, ATP1B2

Molecular functions related to X-Linked Juvenile Retinoschisis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium:potassium-exchanging ATPase activityGO:0053919.0ATP1A3, ATP1B2

Products for genes affiliated with X-Linked Juvenile Retinoschisis

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Sources for X-Linked Juvenile 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