XJR
MCID: XLN014
MIFTS: 33

X-Linked Juvenile Retinoschisis (XJR) malady

Summaries for X-Linked Juvenile Retinoschisis

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 19GeneReviews, 33MalaCards
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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: X-Linked Juvenile Retinoschisis, also known as juvenile retinoschisis, is related to neovascular glaucoma and juvenile glaucoma. An important gene associated with X-Linked Juvenile Retinoschisis is RS1 (retinoschisin 1), and among its related pathways are Pancreatic secretion and Protein digestion and absorption. The compounds lithium carbonate and digoxin have been mentioned in the context of this disorder. Affiliated tissues include retina, and related mouse phenotype vision/eye.

NIH Rare Diseases:43 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

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 45Novoseek, 61UMLS
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Aliases & Descriptions:

x-linked juvenile retinoschisis 19 43 20 21
juvenile retinoschisis 19 43 22 21 45
x-linked retinoschisis 19 43 21
retinoschisis, juvenile, x-linked 21 61
retinoschisis juvenile x chromosome-linked 43
congenital x-linked retinoschisis 21
retinoschisis, degenerative 21
retinoschisis x-linked 43
xjr 43


Related Diseases for X-Linked Juvenile Retinoschisis

Sources:
17GeneCards, 18GeneDecks
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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
1neovascular glaucoma10.4
2juvenile glaucoma10.4
3turner syndrome10.3
4norrie disease10.3
5congenital stationary night blindness10.2
6retinitis pigmentosa10.2
7macular holes10.2
8x-linked disease10.2
9blindness10.2
10fundus albipunctatus10.1
11retinal degeneration10.0RS1
12retinoschisis10.0RS1

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



Diseases related to x-linked juvenile retinoschisis

Clinical Features for X-Linked Juvenile Retinoschisis

Drugs & Therapeutics for X-Linked Juvenile Retinoschisis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for X-Linked Juvenile Retinoschisis

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

Sources:
20GeneTests, 22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to X-Linked Juvenile Retinoschisis:

33
Retina

Animal Models for X-Linked Juvenile Retinoschisis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to X-Linked Juvenile Retinoschisis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.6RS1, ATP1B2, PPEF1

Publications for X-Linked Juvenile Retinoschisis

Sources:
51PubMed
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Articles related to X-Linked Juvenile Retinoschisis:

(show all 24)
idTitleAuthorsYear
1
X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships. (24138048)
2013
2
Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis. (20151283)
2010
3
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families. (18369700)
2008
4
Molecular analysis of the XLRS1 gene in 4 females affected with X-linked juvenile retinoschisis. (18982040)
2008
5
Identification of novel mutations in the XLRS1 gene in Chinese patients with X-linked juvenile retinoschisis. (17852193)
2007
6
Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis. (16900931)
2006
7
Unusual Phenotypic Expression of an XLRS1 Mutation in X-Linked Juvenile Retinoschisis. (16901436)
2006
8
Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis. (14986011)
2004
9
Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. (12928282)
2003
10
Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome. (12920343)
2003
11
Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis. (12383832)
2002
12
Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene. (12457918)
2002
13
Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the XLRS1 gene. (11594966)
2001
14
Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene. (11217940)
2001
15
Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation. (11035549)
2000
16
X-Linked juvenile retinoschisis associated with a 4-base pair insertion at codon 55 of the XLRS1 gene. (10679210)
2000
17
A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis. (11058916)
2000
18
Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. (10922205)
2000
19
Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. (10220153)
1999
20
Intragenic polymorphic missense mutations in the XLRS1 gene in families with juvenile X-linked retinoschisis. (10576992)
1999
21
Intragenic polymorphic missense mutations in the XLRS1 gene in families with juvenile X-linked retinoschisis. (10453744)
1999
22
First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis. (10636740)
1999
23
Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave. (10458173)
1999
24
Linkage relationship of X-linked juvenile retinoschisis with Xp22.1-p22.3 probes. (1977307)
1990

Genetic Variations for X-Linked Juvenile Retinoschisis

Expression for genes affiliated with X-Linked Juvenile Retinoschisis

Sources:
1BioGPS, 15Gene 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

Sources:
30KEGG, 52QIAGEN, 54Reactome, 12EMD Millipore
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Compounds for genes affiliated with X-Linked Juvenile Retinoschisis

Sources:
60Tocris Bioscience, 45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
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Compounds related to X-Linked Juvenile Retinoschisis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lithium carbonate608.9ATP1B2, ATP1A3
2digoxin45 50 60 11 2412.7ATP1B2, ATP1A3
3magnesium45 11 2410.5ATP1B2, ATP1A3, PPEF1

GO Terms for genes affiliated with X-Linked Juvenile Retinoschisis

Sources:
16Gene 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:0058909.0ATP1B2, ATP1A3

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

idNameGO IDScoreTop Affiliating Genes
1ion transmembrane transportGO:0342209.0ATP1B2, ATP1A3

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

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

Products for genes affiliated with X-Linked Juvenile Retinoschisis

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  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Juvenile 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