MCID: XLN014
MIFTS: 45

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 systemic lupus erythematosus, 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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Graphical network of the top 20 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, Ovary, Myeloid, Monocytes, 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
Reexpansion pulmonary edema after surgery for spontaneous pneumothorax in a patient with anorexia nervosa. (27158490)
2016
2
Perinatal inflammation/infection and its association with correction of metabolic acidosis in hypoxic-ischemic encephalopathy. (26796123)
2016
3
Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies. (24328569)
2015
4
CMTM5 is reduced in prostate cancer and inhibits cancer cell growth in vitro and in vivo. (25387568)
2015
5
Lack of association between KRAS mutations and 18F-FDG PET/CT in Caucasian metastatic colorectal cancer patients. (24778079)
2014
6
Immediate- and medium-term effects of simultaneous percutaneous corrections of secundum type atrial septal defect combined with pulmonary valve stenosis in local anesthesia and without transesophageal echocardiography guidance. (24842233)
2014
7
Overexpression and constitutive nuclear localization of cohesin protease Separase protein correlates with high incidence of relapse and reduced overall survival in glioblastoma multiforme. (24792645)
2014
8
Promoter methylation patterns in Richter syndrome affect stem-cell maintenance and cell cycle regulation and differ from de novo diffuse large B-cell lymphoma. (23961875)
2013
9
The use of body circumferences for the prediction of intra-abdominal fat in obese women with polycystic ovary syndrome. (23478722)
2012
10
Lack of impact of pulse pressure on outcomes in patients with malignant phase hypertension: the West Birmingham Malignant Hypertension study. (22495136)
2012
11
Unusual combination of hypoplastic left ventricle, atrioventricular septal defect with restrictive ventricular septal defect, and common arterial trunk. (23804879)
2012
12
The comparison of the effect of three anesthetic induction regimens on the arterial oxygen saturation in children with tetralogy of fallot undergoing cardiac surgery. (22737408)
2011
13
Serum monocyte chemotactic protein-1 concentrations distinguish patients with ankylosing spondylitis from patients with mechanical low back pain. (20634732)
2011
14
"Remarkable improvement": sulfa drugs and pediatric meningococcal meningitis, 1937-1949. (21536616)
2011
15
Survival and prognostic factors of motor neuron disease in a multi-ethnic Asian population. (21039118)
2011
16
T-cell responses to neurofilament light protein are part of the normal immune repertoire. (19240089)
2009
17
Chlamydia trachomatis native major outer membrane protein induces partial protection in nonhuman primates: implication for a trachoma transmission-blocking vaccine. (19494332)
2009
18
Retinol-binding protein 4 is associated with insulin resistance, but appears unsuited for metabolic screening in women with polycystic ovary syndrome. (18362299)
2008
19
Sleep apnea and REM sleep behavior disorder in patients with Chiari malformations. (18641869)
2008
20
Tumoral calcinosis. (18583815)
2008
21
Biased exonization of transposed elements in duplicated genes: A lesson from the TIF-IA gene. (18047649)
2007
22
Dot-blot immunodetection as a versatile and high-throughput assay to evaluate recombinant GPCRs produced in the yeast Pichia pastoris. (16843005)
2006
23
Association of red blood cell 5-methyltetrahydrofolate and severity of coronary artery disease: a cross-sectional study from Shiraz, southern Iran. (16160901)
2005
24
Orbital lymphangioma. (15234158)
2004
25
Opposing effects of PI3 kinase pathway activation on human myeloid and erythroid progenitor cell proliferation and differentiation in vitro. (14725899)
2004
26
The endocannabinoid system: a general view and latest additions. (14744801)
2004
27
Surgical management of double outlet right ventricle with intact ventricular septum. (12607685)
2003
28
Gene promoter hypermethylation in oral rinses of leukoplakia patients--a diagnostic and/or prognostic tool? (14556921)
2003
29
Membranoproliferative glomerulonephritis associated with hereditary deficiency of the 4th component of complement. (14579944)
2003
30
Progestin-induced apoptosis in the Macaque ovarian epithelium: differential regulation of transforming growth factor-beta. (11773282)
2002
31
Vascular protection: current possibilities and future perspectives. (11715356)
2001
32
Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated? (11443625)
2001
33
Simultaneous PCR detection of beta - thalassemia and alpha - thalassemia 1 (SEA type) in prenatal diagnosis of complex thalassemia syndrome. (11522274)
2001
34
Hydroxymethylglutaryl-coenzyme A reductase inhibition stimulates caspase-1 activity and Th1-cytokine release in peripheral blood mononuclear cells. (11164419)
2000
35
A case of epithelioid hemangioendothelioma associated with an artery. (9608633)
1997
36
Bi-level positive airway pressure (BiPAP) ventilation in an infant with central hypoventilation syndrome. (9261857)
1997
37
AUF1 binding affinity to A+U-rich elements correlates with rapid mRNA degradation. (8647811)
1996
38
Topography of the NADPH-diaphorase system in the chameleon brain. (8776509)
1996
39
Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus. (8940274)
1996
40
Activity of RNA polymerase I transcription factor UBF blocked by Rb gene product. (7877691)
1995
41
Human cytochrome P450 mono-oxygenase system is suppressed by propofol. (7772432)
1995
42
Orbital lymphangioma. Correlation of magnetic resonance images and intraoperative findings. (1454327)
1992
43
Choroid plexus carcinoma: report of a case with radiographic and ultrastructure correlation. (3710847)
1986
44
Occupational dermatitis from cephalosporins. (2936563)
1986
45
Arterial repair without coronary relocation for double-outlet right ventricle with subpulmonary ventricular septal defect (Taussig-Bing anomaly) (6843165)
1983
46
Gonadoblastoma and dysgerminoma with ataxia-telangiectasia. (990441)
1976
47
Facial sweating after food: a new sign of diabetic autonomic neuropathy. (4144374)
1973
48
The electroretinogram and visually evoked response in photosensitive epilepsy. (5711058)
1968
49
Electronmicrography of treponemas from cases of yaws, pinta, and the so-called Cuban form of pinta. (14857252)
1951
50
Wilms' tumor (embryoma of the kidney). (18896881)
1947

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