MCID: XLN014
MIFTS: 30

X-Linked Juvenile Retinoschisis malady

Category: Genetic diseases (common)

Aliases & Classifications for X-Linked Juvenile Retinoschisis

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Aliases & Descriptions for X-Linked Juvenile Retinoschisis:

Name: X-Linked Juvenile Retinoschisis 22 23 24
Juvenile Retinoschisis 23 24
X-Linked Retinoschisis 23 24
Congenital X-Linked Retinoschisis 24
 
Retinoschisis, Juvenile, X-Linked 66
Retinoschisis, Degenerative 66
Degenerative Retinoschisis 24
Xjr 24

Classifications:



Summaries for X-Linked Juvenile Retinoschisis

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Genetics Home Reference:24 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.

MalaCards based summary: X-Linked Juvenile Retinoschisis, also known as juvenile retinoschisis, is related to retinoschisis and juvenile retinoschisis. An important gene associated with X-Linked Juvenile Retinoschisis is RS1 (Retinoschisin 1), and among its related pathways are Hepatic ABC Transporters and Thyroid hormone signaling pathway. Affiliated tissues include retina and eye, and related mouse phenotype vision/eye.

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
1retinoschisis11.9
2juvenile retinoschisis11.8
3retinitis10.4
4neovascular glaucoma10.2
5macular holes10.2
6norrie disease10.1
7epileptic encephalopathy, early infantile, 19.4ATP1A3, RS1
8paroxysmal cold hemoglobinuria9.4ATP1A3, ATP1B2
9kallmann syndrome 38.4ATP1A3, ATP1B2, PPEF1, RS1
10x-linked protoporphyria8.3ATP1A3, 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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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
DorzolamidePhase 466120279-96-13154, 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)
Dorzolamidum
HMS2089O06
MolPort-005-941-739
Prestwick0_001116
Prestwick1_001116
Prestwick2_001116
Prestwick3_001116
SPBio_003116
STK645522
Trusopt
Trusopt (TN)
dorzolamide
2
Brinzolamide60138890-62-768844
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 Retinoschisis23 RS1

Anatomical Context for X-Linked Juvenile Retinoschisis

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

34
Retina, Eye

Animal Models for X-Linked Juvenile Retinoschisis or affiliated genes

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MGI Mouse Phenotypes related to X-Linked Juvenile Retinoschisis:

39
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
X-LINKED JUVENILE RETINOSCHISIS IN A CONSANGUINEOUS FAMILY: Phenotypic Variability and Report of a Homozygous Female Patient. (25054456)
2014
4
Genetic and phenotypic characteristics of six Chinese families with X-linked juvenile retinoschisis. (24238536)
2013
5
Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis. (23288992)
2012
6
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
7
The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis. (21196491)
2011
8
Macular hole secondary to X-linked juvenile retinoschisis. (21323260)
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
Common polymorphisms of the CFH, LOC 387715/ARMS2 and HTRA1 genes may not influence the intra-familial variability of X-linked juvenile retinoschisis. (21472264)
2010
13
In vivo imaging of the mouse model of X-linked juvenile retinoschisis with fourier domain optical coherence tomography. (19182246)
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
Molecular analysis of the XLRS1 gene in 4 females affected with X-linked juvenile retinoschisis. (18982040)
2008
17
Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. (17615541)
2007
18
Novel human pathological mutations. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (17879437)
2007
19
Outer retinal corrugations in x-linked juvenile retinoschisis. (17296908)
2007
20
Identification of novel mutations in the XLRS1 gene in Chinese patients with X-linked juvenile retinoschisis. (17852193)
2007
21
Unusual Phenotypic Expression of an XLRS1 Mutation in X-Linked Juvenile Retinoschisis. (16901436)
2006
22
DNA analysis for diagnosis of x-linked juvenile retinoschisis when clinical examination is difficult in a young child. (15944839)
2005
23
Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis. (16027044)
2005
24
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (16521245)
2005
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
Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome. (12920343)
2003
28
Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis. (12383832)
2002
29
Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene. (12457918)
2002
30
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
31
Hereditary X-linked juvenile retinoschisis: a review of the role of MA1ller cells. (12096974)
2002
32
Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the XLRS1 gene. (11594966)
2001
33
On- and off-responses of the photopic electroretinograms in X-linked juvenile retinoschisis. (11292413)
2001
34
Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene. (11217940)
2001
35
A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis. (11058916)
2000
36
Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. (10450864)
1999
37
Golden tapetal-like fundus reflex and posterior hyaloid in a patient with x-linked juvenile retinoschisis. (10048383)
1999
38
The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors. (10023077)
1999
39
Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene. (10051329)
1999
40
Positional cloning of the gene associated with X-linked juvenile retinoschisis. (9326935)
1997
41
Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis. (9150161)
1997
42
Linkage mapping of new X-linked juvenile retinoschisis kindreds using microsatellite markers. (8607849)
1996
43
X-linked juvenile retinoschisis (RS) maps between DXS987 and DXS443. (7835082)
1995
44
Efficient DNA carrier detection in X linked juvenile retinoschisis. (7662636)
1995
45
Refinement of the chromosomal position of the X linked juvenile retinoschisis gene. (7891384)
1994
46
X-Linked Juvenile Retinoschisis (20301401)
1993
47
Visual impairment in Nordic children. V. X-linked juvenile retinoschisis. (8109204)
1993
48
Refined localization of the gene causing X-linked juvenile retinoschisis. (2032721)
1991
49
X-linked juvenile retinoschisis. (6545951)
1984
50
Vascular opacification and leakage in X-linked (juvenile) retinoschisis. (572698)
1979

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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Cellular components related to X-Linked Juvenile Retinoschisis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sodium:potassium-exchanging ATPase complexGO:00058909.0ATP1A3, ATP1B2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1potassium ion importGO:00101079.5ATP1A3, ATP1B2
2sodium ion export from cellGO:00363769.5ATP1A3, ATP1B2
3establishment or maintenance of transmembrane electrochemical gradientGO:00102489.4ATP1A3, ATP1B2
4cellular sodium ion homeostasisGO:00068839.4ATP1A3, ATP1B2
5cell communication by electrical coupling involved in cardiac conductionGO:00860649.4ATP1A3, ATP1B2
6cellular potassium ion homeostasisGO:00300079.4ATP1A3, ATP1B2
7regulation of cardiac conductionGO:19037799.0ATP1A3, ATP1B2
8ion transmembrane transportGO:00342208.7ATP1A3, ATP1B2

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

idNameGO IDScoreTop Affiliating Genes
1sodium:potassium-exchanging ATPase activityGO:00053919.0ATP1A3, ATP1B2

Sources for X-Linked Juvenile Retinoschisis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet