XJR
MCID: XLN014
MIFTS: 29

X-Linked Juvenile Retinoschisis (XJR) malady

Summaries for X-Linked Juvenile Retinoschisis

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42NIH Rare Diseases, 21Genetics Home Reference, 19GeneReviews, 32MalaCards
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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 retinoschisis and x-linked disease. 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 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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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 22GTR, 44Novoseek, 60UMLS
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Aliases & Descriptions:

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 60
retinoschisis juvenile x chromosome-linked 42
congenital x-linked retinoschisis 21
retinoschisis, degenerative 21
retinoschisis x-linked 42
xjr 42


Related Diseases for X-Linked Juvenile Retinoschisis

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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 14)
idRelated DiseaseScoreTop Affiliating Genes
1retinoschisis31.8RS1
2x-linked disease10.7
3retinitis10.6
4neovascular glaucoma10.4
5juvenile glaucoma10.4
6glaucoma10.4
7macular holes10.3
8congenital stationary night blindness10.1
9retinitis pigmentosa10.1
10night blindness10.1
11refractive error10.1
12fundus albipunctatus10.0
13retinal detachment10.0
14retinal degeneration10.0RS1

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



Diseases related to x-linked juvenile retinoschisis

Clinical Features for X-Linked Juvenile Retinoschisis

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Drugs & Therapeutics for X-Linked Juvenile Retinoschisis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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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

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32MalaCards
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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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36MGI
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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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Genetic Variations for X-Linked Juvenile Retinoschisis

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Expression for genes affiliated with X-Linked Juvenile Retinoschisis

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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

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Sources:
29KEGG, 51QIAGEN, 53Reactome, 12EMD Millipore
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Compounds for genes affiliated with X-Linked Juvenile Retinoschisis

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Sources:
59Tocris Bioscience, 44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to X-Linked Juvenile Retinoschisis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lithium carbonate598.9ATP1B2, ATP1A3
2digoxin44 49 59 11 2412.7ATP1B2, ATP1A3
3magnesium44 11 2410.5ATP1B2, ATP1A3, PPEF1

GO Terms for genes affiliated with X-Linked Juvenile Retinoschisis

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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet