XJR
MCID: XLN014
MIFTS: 39

X-Linked Juvenile Retinoschisis (XJR) malady

Genetic diseases, Rare diseases categories

Summaries for X-Linked Juvenile Retinoschisis

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44NIH Rare Diseases, 22Genetics Home Reference, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 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: 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 related mouse phenotype vision/eye.

NIH Rare Diseases:44 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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Sources:
20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 46Novoseek, 63UMLS
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Classifications:

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


Aliases & Descriptions:

x-linked juvenile retinoschisis 20 44 21 22
juvenile retinoschisis 20 44 23 22 46
x-linked retinoschisis 20 44 22
retinoschisis, juvenile, x-linked 22 63
retinoschisis juvenile x chromosome-linked 44
congenital x-linked retinoschisis 22
retinoschisis, degenerative 22
retinoschisis x-linked 44
xjr 44


Related Diseases for X-Linked Juvenile Retinoschisis

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18GeneCards, 19GeneDecks
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Diseases related to X-Linked Juvenile Retinoschisis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1retinoschisis32.0RS1
2retinitis10.7
3neovascular glaucoma10.5
4glaucoma10.5
5macular holes10.3
6norrie disease10.3
7retinitis pigmentosa10.2
8congenital stationary night blindness10.2
9night blindness10.2
10refractive error10.2
11blindness10.2
12fundus albipunctatus10.1
13retinal 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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for X-Linked Juvenile Retinoschisis

Search NIH Clinical Center for X-Linked Juvenile Retinoschisis

Search CenterWatch for X-Linked Juvenile Retinoschisis

Genetic Tests for X-Linked Juvenile Retinoschisis

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21GeneTests, 23GTR
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Genetic tests related to X-Linked Juvenile Retinoschisis:

id Genetic test Affiliating Genes
1 X-Linked Juvenile Retinoschisis21 RS1
2 Juvenile Retinoschisis23

Anatomical Context for X-Linked Juvenile Retinoschisis

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34MalaCards
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MalaCards organs/tissues related to X-Linked Juvenile Retinoschisis:

34
Eye

Animal Models for X-Linked Juvenile Retinoschisis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to X-Linked Juvenile Retinoschisis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.6RS1, ATP1B2, PPEF1

Publications for X-Linked Juvenile Retinoschisis

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53PubMed
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Articles related to X-Linked Juvenile Retinoschisis:

(show top 50)    (show all 84)
idTitleAuthorsYear
1
Genetic and phenotypic characteristics of six Chinese families with X-linked juvenile retinoschisis. (24238536)
2013
2
X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships. (24138048)
2013
3
Thirty-two years follow-up of X-linked juvenile retinoschisis in a Chinese patient with RS1 mutation. (22171610)
2012
4
Dextran and protamine-based solid lipid nanoparticles as potential vectors for the treatment of X-linked juvenile retinoschisis. (22295905)
2012
5
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
6
The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis. (21196491)
2011
7
Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis. (20151283)
2010
8
R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family. (20806044)
2010
9
In vivo imaging of the mouse model of X-linked juvenile retinoschisis with fourier domain optical coherence tomography. (19182246)
2009
10
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. (19324861)
2009
11
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. (19093009)
2008
12
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families. (18369700)
2008
13
Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis. (16900931)
2006
14
Unusual Phenotypic Expression of an XLRS1 Mutation in X-Linked Juvenile Retinoschisis. (16901436)
2006
15
Neovascular glaucoma in a patient with X-linked juvenile retinoschisis. (17162850)
2005
16
DNA analysis for diagnosis of x-linked juvenile retinoschisis when clinical examination is difficult in a young child. (15944839)
2005
17
Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis. (16027044)
2005
18
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (16521245)
2005
19
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (16521243)
2005
20
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (16521246)
2005
21
Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis. (14986011)
2004
22
The multifocal electroretinogram in X-linked juvenile retinoschisis. (12737502)
2003
23
Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. (12928282)
2003
24
Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis. (12383832)
2002
25
Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene. (12457918)
2002
26
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
27
Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the XLRS1 gene. (11594966)
2001
28
On- and off-responses of the photopic electroretinograms in X-linked juvenile retinoschisis. (11292413)
2001
29
Optical coherence tomography and multifocal electroretinography of X-linked juvenile retinoschisis. (11827010)
2001
30
X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci? (11281412)
2001
31
Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation. (11035549)
2000
32
X-Linked juvenile retinoschisis associated with a 4-base pair insertion at codon 55 of the XLRS1 gene. (10679210)
2000
33
Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. (10450864)
1999
34
Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene. (10051329)
1999
35
Three widespread founder mutations contribute to high incidence of X- linked juvenile retinoschisis in Finland. (10234514)
1999
36
Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. (10220153)
1999
37
Golden tapetal-like fundus reflex and posterior hyaloid in a patient with x-linked juvenile retinoschisis. (10048383)
1999
38
A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation. (10415464)
1999
39
The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors. (10023077)
1999
40
First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis. (10636740)
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
Multipoint linkage analysis in X-linked juvenile retinoschisis. (8500256)
1993
48
Visual impairment in Nordic children. V. X-linked juvenile retinoschisis. (8109204)
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for X-Linked Juvenile Retinoschisis:

1
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
9NM_000330.3(RS1): c.608C> T (p.Pro203Leu)single nucleotide variantPathogenicrs104894930GRCh37Chr X, 18660191: 18660191
10NM_000330.3(RS1): c.305G> A (p.Arg102Gln)single nucleotide variantPathogenicrs61752068GRCh37Chr X, 18665332: 18665332

Expression for genes affiliated with X-Linked Juvenile Retinoschisis

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2BioGPS, 16Gene Expression Omnibus DataSets
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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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51PathCards, 31KEGG, 56Reactome, 54QIAGEN, 39NCBI BioSystems Database, 13EMD Millipore
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Compounds for genes affiliated with X-Linked Juvenile Retinoschisis

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62Tocris Bioscience, 46Novoseek, 52PharmGKB, 25HMDB, 12DrugBank
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Compounds related to X-Linked Juvenile Retinoschisis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lithium carbonate629.2ATP1A3, ATP1B2
2digoxin46 62 52 25 1213.1ATP1A3, ATP1B2
3sodium46 2510.0ATP1A3, ATP1B2
4potassium46 25 1210.7ATP1A3, ATP1B2
5Phosphate258.6ATP1A3, ATP1B2, PPEF1
6magnesium46 25 1210.5PPEF1, ATP1B2, ATP1A3
7Water258.4ATP1A3, ATP1B2, PPEF1

GO Terms for genes affiliated with X-Linked Juvenile Retinoschisis

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17Gene Ontology
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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Juvenile Retinoschisis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet