MCID: XLN014
MIFTS: 44

X-Linked Juvenile Retinoschisis malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for X-Linked Juvenile Retinoschisis

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Sources:
21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 47Novoseek, 24GTR, 65UMLS, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for X-Linked Juvenile Retinoschisis:

Name: X-Linked Juvenile Retinoschisis 21 45 22 23 51
Juvenile Retinoschisis 21 45 22 23 47 24
X-Linked Retinoschisis 21 45 22 23 51
Xjr 45 23
Retinoschisis Juvenile X Chromosome-Linked 45
Retinoschisis, Juvenile, X-Linked 65
 
Congenital X-Linked Retinoschisis 23
Retinoschisis, Degenerative 65
Degenerative Retinoschisis 23
Retinoschisis X-Linked 45
Xlrs 51

Characteristics:

Orphanet epidemiological data:

51
x-linked juvenile retinoschisis:
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet51 792
ICD10 via Orphanet28 Q14.1
UMLS65 C0271091, C1137478

Summaries for X-Linked Juvenile Retinoschisis

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NIH Rare Diseases:45 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. last updated: 2/27/2016

MalaCards based summary: X-Linked Juvenile Retinoschisis, also known as juvenile retinoschisis, is related to retinoschisis and retinitis, and has symptoms including anomalies of eyes and vision, glaucoma and cataract/lens opacification. An important gene associated with X-Linked Juvenile Retinoschisis is RS1 (Retinoschisin 1), and among its related pathways are Salivary secretion and Hepatic ABC Transporters. Affiliated tissues include eye, retina and t cells, and related mouse phenotype vision/eye.

Genetics Home Reference:23 X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. 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) in both eyes. 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 disrupts the normal functioning of the macula. Occasionally, side (peripheral) vision is affected in people with X-linked juvenile retinoschisis.

GeneReviews summary for NBK1222

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1retinoschisis11.1
2retinitis10.4
3neovascular glaucoma10.2
4macular holes10.2
5norrie disease10.1
6spondyloepiphyseal dysplasia tarda9.4ATP1A3, RS1
7hemoglobin zurich9.4ATP1A3, ATP1B2
8x-linked opitz g/bbb syndrome8.3ATP1A3, ATP1B2, PPEF1, RS1

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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Symptoms:

 51 (show all 7)
  • anomalies of eyes and vision
  • glaucoma
  • cataract/lens opacification
  • retinoschisis/retinal/chorioretinal coloboma
  • abnormal erg/electroretinogram/electroretinography
  • abnormal eye movements/oculomotor disorder
  • x-linked recessive inheritance

Drugs & Therapeutics for X-Linked Juvenile Retinoschisis

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DorzolamideapprovedPhase 464120279-96-13154, 5284549
Synonyms:
(4S,6S)-4-(ethylamino)-6-methyl-5,6-dihydro-4H-thieno[2,3-b]thiopyran-2-sulfonamide 7,7-dioxide
(4S,6S)-4-(ethylamino)-6-methyl-7,7-dioxo-5,6-dihydro-4H-thieno[2,3-b]thiopyran-2-sulfonamide
(4S,6S)-4-Ethylamino-6-methyl-7,7-dioxo-4,5,6,7-tetrahydro-7lambda*6*-thieno[2,3-b]thiopyran-2-sulfonic acid amide
(4S,trans)-4-(Ethylamino)-6-methyl-5,6-dihydro-4H-thieno[2,3-b]thiopyran-2-sulfonamide 7,7-dioxide
(4S,trans)-4-(ethylamino)-6-methyl-5,6-dihydro-4H-thieno[2,3-b]thiopyran-2-sulfonamide 7,7-dioxide
(4S-TRANS)-4-(ETHYLAMINO)-5,6-DIHYDRO-6-METHYL-4H-THIENO(2,3-B)THIOPYRAN-2-SULFONAMIDE-7,7-DIOXIDE
(4S-trans)-4-(ETHYLAMINO)-5,6-dihydro-6-methyl-4H-thieno(2,3-b)thiopyran-2-sulfonamide-7,7-dioxide
120279-96-1
1cil
4-Ethylamino-6-methyl-7,7-dioxo-4,5,6,7-tetrahydro-7lambda*6*-thieno[2,3-b]thiopyran-2-sulfonic acid amide
4-Ethylamino-6-methyl-7,7-dioxo-4,5,6,7-tetrahydro-7lambda6-thieno[2,3-b]thiopyran-2-sulfonic acid amide
4S,6S-Dorzolamide
AB00514687
AC1NR4NP
BIDD:GT0306
BPBio1_001377
BRD-K48617017-003-03-1
BSPBio_001252
C06969
CHEBI:4702
 
CHEMBL218490
CID5284549
D07871
DB04507
Dorzolamid
Dorzolamida
Dorzolamide
Dorzolamide (DZA)
Dorzolamide (INN)
Dorzolamide Hydrochloride
Dorzolamidum
HMS2089O06
MolPort-005-941-739
Prestwick0_001116
Prestwick1_001116
Prestwick2_001116
Prestwick3_001116
SPBio_003116
STK645522
Trusopt
Trusopt (TN)
dorzolamide
2Carbonic Anhydrase InhibitorsPhase 4153
3Antihypertensive AgentsPhase 43618
4
Brinzolamideapproved59138890-62-768844
Synonyms:
(+)-4-ETHYLAMINO-3,4-DIHYDRO-2-(METHOXY)PROPYL-2H-THIENO[3,2-E]-1,2-THIAZINE-6-SULFONAMIDE-1,1-DIOXIDE
(4R)-4-(ethylamino)-2-(3-methoxypropyl)-1,1-dioxo-3,4-dihydrothieno[3,2-e]thiazine-6-sulfonamide
(4R)-4-(ethylamino)-2-(3-methoxypropyl)-3,4-dihydro-2H-thieno[3,2-e][1,2]thiazine-6-sulfonamide 1,1-dioxide
(R)-4-(Ethylamino)-3,4-dihydro-2-(3-methoxypropyl)-2H-thieno(3,2-e)-1,2-thiazine-6-sulfonamide 1,1-dioxide
(R)-4-(ethylamino)-3,4-dihydro-2-(3-methoxypropyl)-2H-thieno(3,2-e)-1,2-thiazine-6-sulfonamide
138890-62-7
2H-Thieno(3,2-e)-1,2-thiazine-6-sulfonamide,4-(ethylamino)-3,4-dihydro-2-(3-methoxypropyl)-,1,1-dioxide,R
3znc
AB00513824
AC-5277
AC1L2AKA
AC1Q6UVB
AKOS005145708
AL 4862
AL-4862
AL04862
Alcon brand of brinzolamide
Allphar brand of brinzolamide
Azopt
Azopt (TN)
BIDD:GT0039
BPBio1_000539
BRD-K74913225-001-03-3
BSPBio_000489
BZ1
 
Birnzolamide
Brinzolamide
Brinzolamide (BRZ)
Brinzolamide (JAN/USP/INN)
Brinzolamide [USAN]
C07760
C111827
C12H21N3O5S3
CHEBI:3176
CHEMBL220491
CID68844
D00652
DB01194
FT-0082471
HMS1569I11
I09-0605
LS-173036
MLS002153787
MolPort-005-940-291
Prestwick0_000365
Prestwick1_000365
Prestwick2_000365
Prestwick3_000365
SMR001233169
SPBio_002410
UNII-9451Z89515

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of Cystoid Macular Edema in Patients With Retinal DegenerationRecruitingNCT00716586Phase 4
2Safety and Efficacy of rAAV-hRS1 in Patients With X-linked Retinoschisis (XLRS)RecruitingNCT02416622Phase 1, Phase 2
3Study of RS1 Ocular Gene Transfer for X-linked RetinoschisisRecruitingNCT02317887Phase 1, Phase 2
4Clinical and Genetic Studies of X-Linked Juvenile RetinoschisisRecruitingNCT00055029
5Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
6Clinical Evaluation of Patients With X-linked RetinoschisisActive, not recruitingNCT02331173
7People s Expectations When Enrolling in a Phase I/II RS1 Ocular Gene Transfer Clinical TrialEnrolling by invitationNCT02317354

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 Retinoschisis22 RS1

Anatomical Context for X-Linked Juvenile Retinoschisis

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

33
Eye, Retina, T cells, Prostate, Myeloid, Endothelial, B cells

Animal Models for X-Linked Juvenile Retinoschisis or affiliated genes

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MGI Mouse Phenotypes related to X-Linked Juvenile Retinoschisis:

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

Publications for X-Linked Juvenile Retinoschisis

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Articles related to X-Linked Juvenile Retinoschisis:

(show top 50)    (show all 91)
idTitleAuthorsYear
1
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
2
A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family. (25393829)
2014
3
Genetic and phenotypic characteristics of six Chinese families with X-linked juvenile retinoschisis. (24238536)
2013
4
X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships. (24138048)
2013
5
Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis. (25343070)
2012
6
Thirty-two years follow-up of X-linked juvenile retinoschisis in a Chinese patient with RS1 mutation. (22171610)
2012
7
Dextran and protamine-based solid lipid nanoparticles as potential vectors for the treatment of X-linked juvenile retinoschisis. (22295905)
2012
8
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
9
The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis. (21196491)
2011
10
Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis. (20151283)
2010
11
Spontaneous closure of macular hole in a patient with x-linked juvenile retinoschisis. (25390677)
2010
12
R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family. (20806044)
2010
13
In vivo imaging of the mouse model of X-linked juvenile retinoschisis with fourier domain optical coherence tomography. (19182246)
2009
14
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. (19324861)
2009
15
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. (19093009)
2008
16
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families. (18369700)
2008
17
Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis. (16900931)
2006
18
Unusual Phenotypic Expression of an XLRS1 Mutation in X-Linked Juvenile Retinoschisis. (16901436)
2006
19
Neovascular glaucoma in a patient with X-linked juvenile retinoschisis. (17162850)
2005
20
DNA analysis for diagnosis of x-linked juvenile retinoschisis when clinical examination is difficult in a young child. (15944839)
2005
21
Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis. (16027044)
2005
22
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (16521245)
2005
23
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (16521243)
2005
24
Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis. (14986011)
2004
25
The multifocal electroretinogram in X-linked juvenile retinoschisis. (12737502)
2003
26
Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. (12928282)
2003
27
Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis. (12383832)
2002
28
Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene. (12457918)
2002
29
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
30
Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the XLRS1 gene. (11594966)
2001
31
On- and off-responses of the photopic electroretinograms in X-linked juvenile retinoschisis. (11292413)
2001
32
Optical coherence tomography and multifocal electroretinography of X-linked juvenile retinoschisis. (11827010)
2001
33
X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci? (11281412)
2001
34
Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation. (11035549)
2000
35
X-Linked juvenile retinoschisis associated with a 4-base pair insertion at codon 55 of the XLRS1 gene. (10679210)
2000
36
Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. (10450864)
1999
37
Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene. (10051329)
1999
38
Three widespread founder mutations contribute to high incidence of X- linked juvenile retinoschisis in Finland. (10234514)
1999
39
Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. (10220153)
1999
40
Golden tapetal-like fundus reflex and posterior hyaloid in a patient with x-linked juvenile retinoschisis. (10048383)
1999
41
A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation. (10415464)
1999
42
The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors. (10023077)
1999
43
Positional cloning of the gene associated with X-linked juvenile retinoschisis. (9326935)
1997
44
Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis. (9150161)
1997
45
Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis. (9402977)
1997
46
X-linked juvenile retinoschisis (RS) maps between DXS987 and DXS443. (7835082)
1995
47
Refinement of the chromosomal position of the X linked juvenile retinoschisis gene. (7891384)
1994
48
X-Linked Juvenile Retinoschisis (20301401)
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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Expression for genes affiliated with X-Linked Juvenile Retinoschisis

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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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GO Terms for genes affiliated with X-Linked Juvenile Retinoschisis

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

idNameGO IDScoreTop Affiliating Genes
1ATP hydrolysis coupled transmembrane transportGO:00906629.3ATP1A3, ATP1B2
2cellular potassium ion homeostasisGO:00300079.2ATP1A3, ATP1B2
3regulation of cardiac conductionGO:19037799.0ATP1A3, ATP1B2
4ion transmembrane transportGO:00342208.7ATP1A3, ATP1B2

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

idNameGO IDScoreTop Affiliating Genes
1hydrolase activityGO:00167879.3ATP1A3, PPEF1

Sources for X-Linked Juvenile Retinoschisis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet