RS1
MCID: RTN209
MIFTS: 60

Retinoschisis 1, X-Linked, Juvenile (RS1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Retinoschisis 1, X-Linked, Juvenile

MalaCards integrated aliases for Retinoschisis 1, X-Linked, Juvenile:

Name: Retinoschisis 1, X-Linked, Juvenile 57 71
Retinoschisis 57 11 75 12 5 43 14 71 33
X-Linked Retinoschisis 11 42 58 5
X-Linked Juvenile Retinoschisis 11 42 58
X-Linked Juvenile Retinoschisis 1 11 14
Xlrs1 57 73
Xlrs 11 58
Rs1 57 73
Congenital X-Linked Retinoschisis 42
Retinoschisis Juvenile X-Linked 1 73
Retinoschisis, Juvenile, X-Linked 71
Retinoschisis, Degenerative 71
Degenerative Retinoschisis 42
Retinoschisis, X-Linked 75
Juvenile Retinoschisis 42
Xjr 42
Rs 57

Characteristics:


Inheritance:

Retinoschisis 1, X-Linked, Juvenile: X-linked recessive 57
X-Linked Retinoschisis: X-linked recessive 58

Prevelance:

X-Linked Retinoschisis: 1-9/100000 (Worldwide, France, Europe) 58

Age Of Onset:

X-Linked Retinoschisis: Adolescent,Adult,Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
may not be clinically manifest until middle life
some affected females have been reported


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0060763 DOID:8465
OMIM® 57 312700
ICD9CM 34 361.10
MeSH 43 D041441
NCIt 49 C85046
SNOMED-CT 68 389992006
ICD10 31 Q14.1
ICD10 via Orphanet 32 Q14.1
UMLS via Orphanet 72 C0271091
Orphanet 58 ORPHA792
UMLS 71 C0152439 C0271091 C1137478 more

Summaries for Retinoschisis 1, X-Linked, Juvenile

MedlinePlus Genetics: 42 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.X-linked juvenile retinoschisis is usually diagnosed when affected boys start school and poor vision and difficulty with reading become apparent. In more severe cases, eye squinting and involuntary movement of the eyes (nystagmus) begin in infancy. Other early features of X-linked juvenile retinoschisis include eyes that do not look in the same direction (strabismus) and farsightedness (hyperopia). Visual acuity often declines in childhood and adolescence but then stabilizes throughout adulthood until a significant decline in visual acuity typically occurs in a man's fifties or sixties. Sometimes, severe complications develop, such as separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These eye abnormalities can further impair vision or cause blindness.

MalaCards based summary: Retinoschisis 1, X-Linked, Juvenile, also known as retinoschisis, is related to juvenile retinoschisis and nicolaides-baraitser syndrome. An important gene associated with Retinoschisis 1, X-Linked, Juvenile is RS1 (Retinoschisin 1), and among its related pathways/superpathways are Visual phototransduction and Visual Cycle in Retinal Rods. The drugs Bupivacaine and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and pineal, and related phenotypes are abnormality of eye movement and cataract

UniProtKB/Swiss-Prot: 73 A vitreo-retinal dystrophy characterized by macular pathology and by splitting of the superficial layer of the retina. Macular changes are present in almost all cases. In the fundi, radially oriented intraretinal foveomacular cysts are seen in a spoke-wheel configuration, with the absence of foveal reflex in most cases. In addition, approximately half of cases have bilateral peripheral retinoschisis in the inferotemporal part of the retina. Aside from the typical fundus appearance, strabismus, nystagmus, axial hyperopia, defective color vision and foveal ectopy can be present. The most important complications are vitreous hemorrhage, retinal detachment, and neovascular glaucoma.

OMIM®: 57 X-linked retinoschisis (XLRS) is a retinal dystrophy that leads to schisis (splitting) of the neural retina leading to reduced visual acuity in affected men. The condition accounts for almost all congenital retinoschisis, with occasional reports of autosomal dominant retinoschisis (see 180270) making up the remainder. The split in the retina occurs predominantly within the inner retinal layers and is very different from retinal detachment, which is a split between the neural retina and the retinal pigment epithelium. In general, carrier females remain asymptomatic (summary by Sikkink et al., 2007). (312700) (Updated 08-Dec-2022)

Orphanet: 58 A rare disorder involving multiple structure of the eye characterized by reduced visual acuity in males due to juvenile macular degeneration. Clinical features such as vitreous hemorrhage, retinal detachment, and neovascular glaucoma can be observed in advanced stages.

Disease Ontology: 11 A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has material basis in the RS1 gene on chromosome Xp22.

Wikipedia: 75 Retinoschisis is an eye disease characterized by the abnormal splitting of the retina's neurosensory... more...

Related Diseases for Retinoschisis 1, X-Linked, Juvenile

Diseases in the Retinoschisis 1, X-Linked, Juvenile family:

X-Linked Congenital Retinoschisis

Diseases related to Retinoschisis 1, X-Linked, Juvenile via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 321)
# Related Disease Score Top Affiliating Genes
1 juvenile retinoschisis 32.8 RS1 CDKL5
2 nicolaides-baraitser syndrome 31.8 RS1 CDKL5
3 vitreoretinal dystrophy 31.8 RS1 NR2E3 BEST1
4 macular holes 31.7 RS1 RPE65 CHM ABCA4
5 retinal perforation 31.7 RS1 RPE65 RHO
6 coats disease 31.7 RS1 RHO CRB1
7 vitreous detachment 31.7 RS1 RPE65
8 norrie disease 31.7 USH2A RS1 NYX
9 vitreous disease 31.6 RS1 RPE65 RHO BEST1
10 myopia 31.1 RPGR RHO NYX GRK1 CNGB3 CACNA1F
11 macular dystrophy, dominant cystoid 31.0 USH2A RS1 RPGR RPE65 RHO NR2E3
12 hereditary retinal dystrophy 30.9 USH2A RS1 RPE65 RHO PRPH2 CRB1
13 choroidal dystrophy, central areolar, 1 30.8 USH2A RS1 RPGR RPE65 PRPH2 NR2E3
14 enhanced s-cone syndrome 30.8 RS1 RPGR RPE65 RHO NR2E3 GRK1
15 macular retinal edema 30.5 USH2A RPE65 RHO NR2E3 CRB1 BEST1
16 coloboma of macula 30.5 RPE65 RHO CRX CRB1 CEP290
17 x-linked congenital stationary night blindness 30.4 NYX CACNA1F
18 pathologic nystagmus 30.4 CNGB3 CNGA3 CACNA1F
19 retinal degeneration 30.3 USH2A RS1 RPGR RPE65 RHO PRPH2
20 choroideremia 30.3 USH2A RS1 RPGR RPE65 RHO PRPH2
21 night blindness, congenital stationary, type 1a 30.3 NYX CACNA1F
22 choroid disease 30.2 USH2A RS1 RPGR RPE65 RHO PRPH2
23 scotoma 30.2 USH2A RPGR RPE65 RHO PRPH2 CNGB3
24 night blindness, congenital stationary, type 1e 30.2 NYX CACNA1F
25 fundus albipunctatus 30.2 USH2A RS1 RPGR RPE65 RHO PRPH2
26 night blindness, congenital stationary, type 2a 30.1 NYX CACNA1F
27 bietti crystalline corneoretinal dystrophy 30.1 USH2A RPGR RPE65 ABCA4
28 peripheral retinal degeneration 30.1 RPGR RPE65 RHO CNGB3 CNGA3 ABCA4
29 macular degeneration, age-related, 1 30.1 USH2A RS1 RPGR RPE65 RHO PRPH2
30 optic disk drusen 30.1 RPGR RHO CRB1 BEST1 ABCA4
31 retinitis pigmentosa 37 30.0 NR2E3 CNGB3
32 usher syndrome, type iia 30.0 USH2A RPGR CRB1 CEP290 ABCA4
33 eye degenerative disease 30.0 USH2A RS1 RPGR RPE65 RHO PRPH2
34 progressive cone dystrophy 29.9 RPGR PRPH2 CNGB3 CNGA3 CACNA1F ABCA4
35 stickler syndrome 29.9 USH2A RPGR NYX CACNA1F
36 retinitis pigmentosa 29.9 USH2A RS1 RPGR RPE65 RHO PRPH2
37 congenital stationary night blindness 29.9 USH2A RS1 RPGR RPE65 RHO PRPH2
38 stargardt disease 1 29.9 PRPH2 CRX CRB1 CNGB3 BEST1 ABCA4
39 stargardt disease 29.9 USH2A RS1 RPGR RPE65 RHO PRPH2
40 eye disease 29.8 USH2A RS1 RPGR RPE65 RHO PRPH2
41 cone-rod dystrophy 2 29.8 USH2A RS1 RPGR RPE65 RHO PRPH2
42 fundus dystrophy 29.7 USH2A RS1 RPGR RPE65 RHO PRPH2
43 nanophthalmos 29.7 RPGR RPE65 RHO PRPH2 NR2E3 CRB1
44 bestrophinopathy, autosomal recessive 29.7 RPGR RPE65 PRPH2 CRB1 CNGB3 BEST1
45 usher syndrome, type i 29.7 USH2A RPGR RPE65 RHO CEP290 ABCA4
46 retinal disease 29.6 USH2A RPGR RPE65 RHO PRPH2 NR2E3
47 retinitis 29.6 USH2A RPGR RPE65 RHO PRPH2 MERTK
48 refractive error 29.5 RPGR RPE65 RHO NYX CRB1 CEP290
49 achromatopsia 29.5 USH2A RS1 RPGR RPE65 RHO PRPH2
50 leber plus disease 29.5 USH2A RS1 RPGR RPE65 RHO PRPH2

Graphical network of the top 20 diseases related to Retinoschisis 1, X-Linked, Juvenile:



Diseases related to Retinoschisis 1, X-Linked, Juvenile

Symptoms & Phenotypes for Retinoschisis 1, X-Linked, Juvenile

Human phenotypes related to Retinoschisis 1, X-Linked, Juvenile:

58 30 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of eye movement 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000496
2 cataract 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000518
3 abnormal electroretinogram 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000512
4 glaucoma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000501
5 abnormality of vision 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000504
6 retinoschisis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030502
7 macular atrophy 30 Frequent (33%) HP:0007401
8 retinal pigment epithelial atrophy 30 Frequent (33%) HP:0007722
9 retinal detachment 30 Very rare (1%) HP:0000541
10 vitreous hemorrhage 30 Very rare (1%) HP:0007902
11 mizuo phenomenon 30 Very rare (1%) HP:0030824
12 progressive visual loss 30 HP:0000529
13 abnormality of the eye 58 Very frequent (99-80%)
14 hypermetropia 30 HP:0000540
15 retinal atrophy 30 HP:0001105
16 electronegative electroretinogram 30 HP:0007984
17 peripheral cystoid retinal degeneration 30 HP:0007667

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
retinal detachment
retinoschisis
retinal degeneration
retinal atrophy
choroidal sclerosis
more

Clinical features from OMIM®:

312700 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Retinoschisis 1, X-Linked, Juvenile according to GeneCards Suite gene sharing:

25 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 ABCA4 BEST1 CACNA1F CEP290 CHM CNGA3
2 no effect GR00402-S-2 10.17 ABCA4 CACNA1F CDKL5 CEP290 CHM CNGA3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.05 CACNA1F RPGR
4 Increased shRNA abundance (Z-score > 2) GR00366-A-117 10.05 CACNA1F
5 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.05 GRK1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10.05 GRK1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.05 RPGR
8 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.05 GRK1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-167 10.05 CNGB3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.05 RPGR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-172 10.05 CACNA1F
12 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.05 MERTK
13 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.05 CNGB3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.05 RPGR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-216 10.05 MERTK
16 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.05 CACNA1F
17 Increased shRNA abundance (Z-score > 2) GR00366-A-45 10.05 RPGR
18 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.05 RPGR
19 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.05 CACNA1F RPGR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.05 GRK1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.05 CACNA1F
22 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.05 CACNA1F
23 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.05 GRK1 MERTK
24 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.05 CNGB3

MGI Mouse Phenotypes related to Retinoschisis 1, X-Linked, Juvenile:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.11 ABCA4 CACNA1F CDKL5 CEP290 CHM CNGA3
2 pigmentation MP:0001186 10.03 ABCA4 BEST1 CEP290 CHM CRB1 CRX
3 cardiovascular system MP:0005385 9.65 ABCA4 CACNA1F CEP290 CHM CRB1 CRX
4 vision/eye MP:0005391 9.62 ABCA4 BEST1 CACNA1F CDKL5 CEP290 CHM

Drugs & Therapeutics for Retinoschisis 1, X-Linked, Juvenile

Drugs for Retinoschisis 1, X-Linked, Juvenile (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
2
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
3 Hormones Phase 4
4 Hormone Antagonists Phase 4
5 Anesthetics, Local Phase 4
6
Triamcinolone hexacetonide Phase 4
7
Triamcinolone diacetate Phase 4
8
Triamcinolone Acetonide Phase 4 6436
9 glucocorticoids Phase 4
10 Anti-Inflammatory Agents Phase 4
11 Anesthetics Phase 4
12 Immunosuppressive Agents Phase 4
13 Immunologic Factors Phase 4
14
Brinzolamide Approved 138890-62-7 68844
15
Dorzolamide Approved 120279-96-1 5284549
16 Carbonic Anhydrase Inhibitors
17 Antihypertensive Agents

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 The Effects of Triamcinolone Acetonide With Retrobulbar Anesthesia on Postoperative Pain Control Following Vitreoretinal Surgery Completed NCT01995045 Phase 4 Triamcinolone;Bupivicaine Hydrochloride
2 A Phase I/IIa Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis Active, not recruiting NCT02317887 Phase 1, Phase 2
3 A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing Retinoschisin (rAAV2tYF-CB-hRS1) in Patients With X-linked Retinoschisis Active, not recruiting NCT02416622 Phase 1, Phase 2
4 Macular Tractional Retinoschisis in Proliferative Diabetic Retinopathy Unknown status NCT01312207
5 Application of Pars Plana Vitrectomy in the Treatment of Macular Schisis in High Myopic Eyes Unknown status NCT03586193
6 Use of Spectral Domain Optical Coherence Tomography to Differentiate and Follow-up Senile Retinoschisis and Retinal Detachment Completed NCT02682797
7 Macular Retinoschisis and Detachment Associated With Glaucomatous Optic Neuropathy But Without Optic Disc Pit Nor High Myopia Completed NCT01862627
8 Mothers' Experiences With X-linked Retinoschisis Compared to Fathers' Experiences Completed NCT03354403
9 Clinical Evaluation of Patients With X-linked Retinoschisis (XLRS) Completed NCT02331173 Dorzolamide 2% TID or brinzolamide 1% TID
10 Macular Detachment Associated With Intrachoroidal Cavitation Completed NCT01959724
11 A Randomized, Open Label, Single Center Study Comparing the Efficacy of Macular Buckle Versus Vitrectomy + Internal Limiting Membrane Peeling + Gas Tamponade on Macular Schisis and Concurrent Macular Detachment in Eyes With Highly Myopia Completed NCT03023800
12 Patient Expectations When Enrolling in a Phase I/II RS1 Ocular Gene Transfer Clinical Trial Completed NCT02317354
13 X-Linked Juvenile Retinoschisis - Clinical and Molecular Studies Recruiting NCT00055029
14 Foundation Fighting Blindness My Retina Tracker Registry Recruiting NCT02435940

Search NIH Clinical Center for Retinoschisis 1, X-Linked, Juvenile

Cochrane evidence based reviews: retinoschisis

Genetic Tests for Retinoschisis 1, X-Linked, Juvenile

Anatomical Context for Retinoschisis 1, X-Linked, Juvenile

Organs/tissues related to Retinoschisis 1, X-Linked, Juvenile:

MalaCards : Retina, Eye, Pineal, Endothelial, Lung, Skin, Bone

Publications for Retinoschisis 1, X-Linked, Juvenile

Articles related to Retinoschisis 1, X-Linked, Juvenile:

(show top 50) (show all 1564)
# Title Authors PMID Year
1
Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing. 62 57 5
25999676 2015
2
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 62 57 5
20061330 2010
3
Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy. 62 57 5
17525175 2007
4
X-linked retinoschisis in a female with a heterozygous RS1 missense mutation. 62 57 5
17304551 2007
5
Novel phenotypic and genotypic findings in X-linked retinoschisis. 62 57 5
17296904 2007
6
X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. 62 57 5
15937075 2005
7
Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. 62 57 5
15531314 2004
8
Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis. 62 57 5
12417531 2002
9
Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. 62 57 5
10922205 2000
10
X-linked retinoschisis with point mutations in the XLRS1 gene. 62 57 5
10636421 2000
11
First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis. 62 57 5
10636740 1999
12
Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland. 62 57 5
10234514 1999
13
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. 62 57 5
10533068 1999
14
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. 62 57 5
9618178 1998
15
Positional cloning of the gene associated with X-linked juvenile retinoschisis. 62 57 5
9326935 1997
16
Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis. 62 5
30652005 2019
17
Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients. 62 5
28272453 2017
18
Proteomic profiling of human intraschisis cavity fluid. 62 5
28450823 2017
19
Segmented swept source optical coherence tomography angiography assessment of the perifoveal vasculature in patients with X-linked juvenile retinoschisis: a serial case report. 62 5
29081674 2017
20
Dramatic regression of macular and peripheral retinoschisis with dorzolamide 2 % in X-linked retinoschisis: a case report. 62 5
27246168 2016
21
Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family. 62 5
27932860 2016
22
Detailed Morphological Changes of Foveoschisis in Patient with X-Linked Retinoschisis Detected by SD-OCT and Adaptive Optics Fundus Camera. 62 5
26356828 2015
23
Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide. 62 5
23514609 2014
24
R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma. 62 5
24634885 2014
25
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes. 62 5
23847049 2013
26
A phenotype-genotype correlation study of X-linked retinoschisis. 62 5
23453514 2013
27
Novel RS1 mutations associated with X-linked juvenile retinoschisis. 62 5
22245991 2012
28
Novel clinical manifestation of congenital X-linked retinoschisis. 62 5
22332228 2012
29
Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene. 62 57
22110067 2011
30
X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects. 62 5
22039241 2011
31
Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene. 62 5
21701876 2011
32
Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. 62 5
20809529 2010
33
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. 62 5
19324861 2009
34
Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin. 62 5
18834580 2009
35
Molecular genetic characteristics of X-linked retinoschisis in Koreans. 62 5
19390641 2009
36
Characterization and purification of the discoidin domain-containing protein retinoschisin and its interaction with galactose. 62 5
18690710 2008
37
Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography. 62 5
18541843 2008
38
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT. 62 5
17987333 2008
39
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families. 62 5
18369700 2008
40
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. 62 5
19093009 2008
41
Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation. 62 5
17631851 2007
42
Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. 62 5
17615541 2007
43
Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis. 62 5
17515881 2007
44
X-linked retinoschisis: an update. 62 57
17172462 2007
45
Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation. 62 5
16361673 2006
46
Identification of XLRS1 gene mutation (608C > T) in a Portuguese family with juvenile retinoschisis. 62 5
16167295 2005
47
Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease. 62 5
16272055 2005
48
Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia. 62 5
15932525 2005
49
Optical coherence tomography findings in familial foveal retinoschisis. 62 57
14700666 2004
50
Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. 62 5
12928282 2003

Variations for Retinoschisis 1, X-Linked, Juvenile

ClinVar genetic disease variations for Retinoschisis 1, X-Linked, Juvenile:

5 (show top 50) (show all 79)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RS1 NM_000330.4(RS1):c.160_163dup (p.Thr55fs) DUP Pathogenic
98906 rs281865342 GRCh37: X:18674793-18674794
GRCh38: X:18656673-18656674
2 RS1 NM_000330.4(RS1):c.53-1G>A SNV Pathogenic
866919 rs1928241490 GRCh37: X:18675786-18675786
GRCh38: X:18657666-18657666
3 RS1 NM_000330.4(RS1):c.38T>C (p.Leu13Pro) SNV Pathogenic
9892 rs104894935 GRCh37: X:18690151-18690151
GRCh38: X:18672031-18672031
4 CDKL5, RS1 NM_000330.4(RS1):c.286T>C (p.Trp96Arg) SNV Pathogenic
9886 rs61752063 GRCh37: X:18665351-18665351
GRCh38: X:18647231-18647231
5 CDKL5, RS1 NM_000330.4(RS1):c.216G>C (p.Glu72Asp) SNV Pathogenic
9889 rs104894932 GRCh37: X:18665421-18665421
GRCh38: X:18647301-18647301
6 CDKL5, RS1 NM_000330.4(RS1):c.221G>T (p.Gly74Val) SNV Pathogenic
9890 rs104894933 GRCh37: X:18665416-18665416
GRCh38: X:18647296-18647296
7 CDKL5, RS1 NM_000330.4(RS1):c.325G>C (p.Gly109Arg) SNV Pathogenic
9891 rs104894934 GRCh37: X:18665312-18665312
GRCh38: X:18647192-18647192
8 CDKL5, RS1 NM_000330.4(RS1):c.667T>C (p.Cys223Arg) SNV Pathogenic
9893 rs104894929 GRCh37: X:18660132-18660132
GRCh38: X:18642012-18642012
9 CDKL5, RS1 NM_000330.4(RS1):c.305G>A (p.Arg102Gln) SNV Pathogenic
9896 rs61752068 GRCh37: X:18665332-18665332
GRCh38: X:18647212-18647212
10 CDKL5, RS1 NM_000330.4(RS1):c.208G>A (p.Gly70Ser) SNV Pathogenic
372496 rs62645894 GRCh37: X:18665429-18665429
GRCh38: X:18647309-18647309
11 CDKL5, RS1 NM_000330.4(RS1):c.632C>T (p.Ala211Val) SNV Pathogenic
812429 rs1602308821 GRCh37: X:18660167-18660167
GRCh38: X:18642047-18642047
12 CDKL5, RS1 NM_000330.4(RS1):c.523-2A>G SNV Pathogenic
98982 rs281865349 GRCh37: X:18660278-18660278
GRCh38: X:18642158-18642158
13 CDKL5, RS1 NM_000330.4(RS1):c.199_206dup (p.Gly70fs) DUP Pathogenic
813235 rs1927824776 GRCh37: X:18665430-18665431
GRCh38: X:18647310-18647311
14 CDKL5, RS1 NM_000330.4(RS1):c.366G>A (p.Trp122Ter) SNV Pathogenic
547067 rs61752147 GRCh37: X:18662706-18662706
GRCh38: X:18644586-18644586
15 CDKL5, RS1 NM_000330.4(RS1):c.185-1G>C SNV Pathogenic
98910 rs281865344 GRCh37: X:18665453-18665453
GRCh38: X:18647333-18647333
16 CDKL5, RS1 NM_000330.4(RS1):c.637C>T (p.Arg213Trp) SNV Pathogenic
99009 rs281865365 GRCh37: X:18660162-18660162
GRCh38: X:18642042-18642042
17 CDKL5, RS1 NM_000330.4(RS1):c.349C>T (p.Gln117Ter) SNV Pathogenic
Uncertain Significance
68072 rs199469696 GRCh37: X:18662723-18662723
GRCh38: X:18644603-18644603
18 CDKL5, RS1 NM_000330.4(RS1):c.579del (p.Ile194fs) DEL Pathogenic
68076 rs199469697 GRCh37: X:18660220-18660220
GRCh38: X:18642100-18642100
19 CDKL5, RS1 NM_000330.4(RS1):c.287G>A (p.Trp96Ter) SNV Pathogenic
1184473 GRCh37: X:18665350-18665350
GRCh38: X:18647230-18647230
20 CDKL5, RS1 NM_000330.4(RS1):c.589C>T (p.Arg197Cys) SNV Pathogenic
98996 rs281865354 GRCh37: X:18660210-18660210
GRCh38: X:18642090-18642090
21 CDKL5, RS1 NM_000330.4(RS1):c.574C>T (p.Pro192Ser) SNV Pathogenic/Likely Pathogenic
98990 rs61753174 GRCh37: X:18660225-18660225
GRCh38: X:18642105-18642105
22 CDKL5, RS1 NM_000330.4(RS1):c.608C>T (p.Pro203Leu) SNV Pathogenic/Likely Pathogenic
Likely Pathogenic
9895 rs104894930 GRCh37: X:18660191-18660191
GRCh38: X:18642071-18642071
23 CDKL5, RS1 NM_000330.4(RS1):c.214G>A (p.Glu72Lys) SNV Pathogenic/Likely Pathogenic
9888 rs104894928 GRCh37: X:18665423-18665423
GRCh38: X:18647303-18647303
24 CDKL5, RS1 NM_000330.4(RS1):c.304C>T (p.Arg102Trp) SNV Likely Pathogenic
9887 rs61752067 GRCh37: X:18665333-18665333
GRCh38: X:18647213-18647213
25 RS1 NM_000330.4(RS1):c.101dup (p.Tyr34Ter) DUP Likely Pathogenic
1705356 GRCh37: X:18674855-18674856
GRCh38: X:18656735-18656736
26 RS1 NM_000330.4(RS1):c.184+1G>A SNV Likely Pathogenic
1705489 GRCh37: X:18674772-18674772
GRCh38: X:18656652-18656652
27 RS1 NM_000330.4(RS1):c.60_64del (p.Leu20fs) DEL Likely Pathogenic
1726095 GRCh37: X:18675774-18675778
GRCh38: X:18657654-18657658
28 RS1 NM_000330.4(RS1):c.131dup (p.Gly45fs) DUP Likely Pathogenic
1687568 GRCh37: X:18674825-18674826
GRCh38: X:18656705-18656706
29 RS1 NM_000330.4(RS1):c.53-713_78+266del DEL Likely Pathogenic
1048161 GRCh37: X:18675494-18676498
GRCh38: X:18657374-18658378
30 RS1 NM_000330.4(RS1):c.150G>A (p.Trp50Ter) SNV Likely Pathogenic
1048173 rs200866925 GRCh37: X:18674807-18674807
GRCh38: X:18656687-18656687
31 CDKL5, RS1 NM_000330.4(RS1):c.266A>G (p.Tyr89Cys) SNV Likely Pathogenic
98923 rs61752060 GRCh37: X:18665371-18665371
GRCh38: X:18647251-18647251
32 CDKL5, RS1 NM_000330.4(RS1):c.422G>A (p.Arg141His) SNV Likely Pathogenic
98960 rs61752159 GRCh37: X:18662650-18662650
GRCh38: X:18644530-18644530
33 CDKL5, RS1 NM_000330.4(RS1):c.421C>T (p.Arg141Cys) SNV Likely Pathogenic
98959 rs61752158 GRCh37: X:18662651-18662651
GRCh38: X:18644531-18644531
34 CDKL5, RS1 NM_000330.4(RS1):c.418G>A (p.Gly140Arg) SNV Likely Pathogenic
98956 rs61752156 GRCh37: X:18662654-18662654
GRCh38: X:18644534-18644534
35 CDKL5, RS1 NM_000330.4(RS1):c.329G>A (p.Cys110Tyr) SNV Likely Pathogenic
98938 rs61752075 GRCh37: X:18662743-18662743
GRCh38: X:18644623-18644623
36 CDKL5, RS1 NM_000330.4(RS1):c.326G>A (p.Gly109Glu) SNV Likely Pathogenic
98937 rs281865345 GRCh37: X:18665311-18665311
GRCh38: X:18647191-18647191
37 CDKL5, RS1 NM_000330.4(RS1):c.578C>T (p.Pro193Leu) SNV Likely Pathogenic
98994 rs281865352 GRCh37: X:18660221-18660221
GRCh38: X:18642101-18642101
38 CDKL5, RS1 NM_000330.4(RS1):c.455del (p.Ser152fs) DEL Likely Pathogenic
1705523 GRCh37: X:18662617-18662617
GRCh38: X:18644497-18644497
39 CDKL5, RS1 NM_000330.4(RS1):c.327-14_410del DEL Likely Pathogenic
1687404 GRCh37: X:18662662-18662759
GRCh38: X:18644542-18644639
40 CDKL5, RS1 NM_000330.4(RS1):c.488G>A (p.Trp163Ter) SNV Likely Pathogenic
1687470 GRCh37: X:18662584-18662584
GRCh38: X:18644464-18644464
41 CDKL5, RS1 NM_000330.4(RS1):c.590G>A (p.Arg197His) SNV Likely Pathogenic
98997 rs281865355 GRCh37: X:18660209-18660209
GRCh38: X:18642089-18642089
42 CDKL5, RS1 NM_000330.4(RS1):c.498C>A (p.Tyr166Ter) SNV Likely Pathogenic
370754 rs1057516744 GRCh37: X:18662574-18662574
GRCh38: X:18644454-18644454
43 CDKL5, RS1 NM_000330.4(RS1):c.522+1G>A SNV Likely Pathogenic
98979 rs281865348 GRCh37: X:18662549-18662549
GRCh38: X:18644429-18644429
44 CDKL5, RS1 NM_000330.4(RS1):c.625C>T (p.Arg209Cys) SNV Likely Pathogenic
99006 rs281865361 GRCh37: X:18660174-18660174
GRCh38: X:18642054-18642054
45 CDKL5, RS1 NM_000330.4(RS1):c.673T>C (p.Ter225Arg) SNV Likely Pathogenic
371642 rs1057517433 GRCh37: X:18660126-18660126
GRCh38: X:18642006-18642006
46 CDKL5, RS1 NM_000330.4(RS1):c.578C>A (p.Pro193His) SNV Likely Pathogenic
1697265 GRCh37: X:18660221-18660221
GRCh38: X:18642101-18642101
47 CDKL5, RS1 NM_000330.4(RS1):c.531T>G (p.Tyr177Ter) SNV Likely Pathogenic
1687609 GRCh37: X:18660268-18660268
GRCh38: X:18642148-18642148
48 CDKL5, RS1 NM_000330.4(RS1):c.409C>T (p.Leu137Phe) SNV Likely Pathogenic
1023915 rs1927700931 GRCh37: X:18662663-18662663
GRCh38: X:18644543-18644543
49 CDKL5, RS1 NM_000330.4(RS1):c.215A>G (p.Glu72Gly) SNV Likely Pathogenic
992968 rs1927823799 GRCh37: X:18665422-18665422
GRCh38: X:18647302-18647302
50 CDKL5, RS1 NM_000330.4(RS1):c.209G>A (p.Gly70Asp) SNV Likely Pathogenic
98915 rs62645895 GRCh37: X:18665428-18665428
GRCh38: X:18647308-18647308

UniProtKB/Swiss-Prot genetic disease variations for Retinoschisis 1, X-Linked, Juvenile:

73 (show top 50) (show all 66)
# Symbol AA change Variation ID SNP ID
1 RS1 p.Glu72Asp VAR_008180 rs104894932
2 RS1 p.Glu72Lys VAR_008181 rs104894928
3 RS1 p.Gly74Val VAR_008182 rs104894933
4 RS1 p.Trp96Arg VAR_008183 rs61752063
5 RS1 p.Arg102Trp VAR_008184 rs61752067
6 RS1 p.Gly109Arg VAR_008185 rs104894934
7 RS1 p.Leu12His VAR_008209 rs62645879
8 RS1 p.Leu13Pro VAR_008210 rs104894935
9 RS1 p.Cys59Ser VAR_008211 rs62645889
10 RS1 p.Tyr65Cys VAR_008212 rs62645892
11 RS1 p.Gly70Ala VAR_008213
12 RS1 p.Gly70Ser VAR_008214 rs62645894
13 RS1 p.Tyr89Cys VAR_008215 rs61752060
14 RS1 p.Ala98Glu VAR_008216 rs61752065
15 RS1 p.Arg102Gln VAR_008217 rs61752068
16 RS1 p.Leu103Arg VAR_008218 rs61752069
17 RS1 p.Phe108Cys VAR_008219 rs61752072
18 RS1 p.Gly109Glu VAR_008220 rs281865345
19 RS1 p.Gly109Trp VAR_008221 rs104894934
20 RS1 p.Cys110Tyr VAR_008222 rs61752075
21 RS1 p.Trp112Cys VAR_008223 rs61752144
22 RS1 p.Leu113Phe VAR_008224 rs61752145
23 RS1 p.Leu127Pro VAR_008225 rs61752149
24 RS1 p.Gly135Val VAR_008226 rs61752152
25 RS1 p.Ile136Thr VAR_008227 rs61752153
26 RS1 p.Thr138Ala VAR_008228 rs61752154
27 RS1 p.Gly140Glu VAR_008229 rs61752157
28 RS1 p.Gly140Arg VAR_008230 rs61752156
29 RS1 p.Arg141Cys VAR_008231 rs61752158
30 RS1 p.Arg141Gly VAR_008232 rs61752158
31 RS1 p.Arg141His VAR_008233 rs61752159
32 RS1 p.Cys142Trp VAR_008234 rs1800001
33 RS1 p.Asp143Val VAR_008235 rs61753161
34 RS1 p.Glu146Asp VAR_008236 rs61753163
35 RS1 p.Glu146Lys VAR_008237 rs61753162
36 RS1 p.Tyr155Cys VAR_008238 rs61753165
37 RS1 p.Trp163Cys VAR_008240 rs61753166
38 RS1 p.Gly178Asp VAR_008241 rs61753169
39 RS1 p.Arg182Cys VAR_008242 rs61753171
40 RS1 p.Pro192Arg VAR_008243 rs61753175
41 RS1 p.Pro192Ser VAR_008244 rs61753174
42 RS1 p.Pro193Leu VAR_008245 rs281865352
43 RS1 p.Pro193Ser VAR_008246 rs281865351
44 RS1 p.Arg197Cys VAR_008247 rs281865354
45 RS1 p.Arg197His VAR_008248 rs281865355
46 RS1 p.Ile199Thr VAR_008249 rs281865356
47 RS1 p.Arg200Cys VAR_008251 rs281865357
48 RS1 p.Arg200His VAR_008252 rs281865358
49 RS1 p.Pro203Leu VAR_008253 rs104894930
50 RS1 p.His207Gln VAR_008254 rs281865360

Expression for Retinoschisis 1, X-Linked, Juvenile

Search GEO for disease gene expression data for Retinoschisis 1, X-Linked, Juvenile.

Pathways for Retinoschisis 1, X-Linked, Juvenile

GO Terms for Retinoschisis 1, X-Linked, Juvenile

Cellular components related to Retinoschisis 1, X-Linked, Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 10.01 USH2A RPGR CEP290 CDKL5
2 cell projection GO:0042995 9.81 ABCA4 CDKL5 CEP290 CRB1 GRK1 PRPH2
3 photoreceptor disc membrane GO:0097381 9.73 RHO GRK1 ABCA4
4 transmembrane transporter complex GO:1902495 9.67 CNGB3 CNGA3
5 photoreceptor inner segment GO:0001917 9.65 USH2A RS1 RHO PRPH2 CRB1
6 intracellular cyclic nucleotide activated cation channel complex GO:0017071 9.62 CNGB3 CNGA3
7 photoreceptor outer segment GO:0001750 9.55 RPGR RHO PRPH2 MERTK GRK1 CRB1

Biological processes related to Retinoschisis 1, X-Linked, Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 10.17 RPE65 RHO PRPH2 NYX NR2E3 GRK1
2 retina development in camera-type eye GO:0060041 9.96 CRB1 MERTK NR2E3 PRPH2 RHO RPE65
3 photoreceptor cell maintenance GO:0045494 9.92 USH2A RHO CRB1 ABCA4
4 eye photoreceptor cell development GO:0042462 9.85 NR2E3 CRB1 CEP290
5 detection of light stimulus involved in visual perception GO:0050908 9.85 RPE65 PRPH2 CRB1 CACNA1F BEST1
6 phototransduction, visible light GO:0007603 9.73 RHO ABCA4
7 rhodopsin mediated signaling pathway GO:0016056 9.71 RHO GRK1
8 retina morphogenesis in camera-type eye GO:0060042 9.65 RPE65 CRB1
9 sensory perception of light stimulus GO:0050953 9.63 USH2A RHO
10 response to stimulus GO:0050896 9.62 ABCA4 BEST1 CACNA1F CHM CNGA3 CNGB3

Molecular functions related to Retinoschisis 1, X-Linked, Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular cAMP-activated cation channel activity GO:0005222 9.46 CNGB3 CNGA3
2 11-cis retinal binding GO:0005502 9.26 RHO ABCA4
3 intracellular cGMP-activated cation channel activity GO:0005223 8.92 CNGB3 CNGA3

Sources for Retinoschisis 1, X-Linked, Juvenile

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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