RS1
MCID: RTN209
MIFTS: 59

Retinoschisis 1, X-Linked, Juvenile (RS1)

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

Aliases & Classifications for Retinoschisis 1, X-Linked, Juvenile

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

Name: Retinoschisis 1, X-Linked, Juvenile 57 70
Retinoschisis 57 12 73 36 29 13 6 44 15 70
X-Linked Retinoschisis 12 43 58 6
X-Linked Juvenile Retinoschisis 12 43 58
X-Linked Juvenile Retinoschisis 1 12 15
Xlrs1 57 72
Xlrs 12 58
Rs1 57 72
Congenital X-Linked Retinoschisis 43
Retinoschisis Juvenile X-Linked 1 72
Retinoschisis, Juvenile, X-Linked 70
Retinoschisis, Degenerative 70
Degenerative Retinoschisis 43
Retinoschisis, X-Linked 73
Juvenile Retinoschisis 43
Xjr 43
Rs 57

Characteristics:

Orphanet epidemiological data:

58
x-linked retinoschisis
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive

Miscellaneous:
may not be clinically manifest until middle life
some affected females have been reported


HPO:

31
retinoschisis 1, x-linked, juvenile:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060763 DOID:8465
OMIM® 57 312700
KEGG 36 H02475
ICD9CM 34 361.10
MeSH 44 D041441
NCIt 50 C85046
SNOMED-CT 67 389992006
ICD10 32 H33.10 Q14.1
ICD10 via Orphanet 33 Q14.1
UMLS via Orphanet 71 C0271091
Orphanet 58 ORPHA792
UMLS 70 C0152439 C0271091 C1137478 more

Summaries for Retinoschisis 1, X-Linked, Juvenile

MedlinePlus Genetics : 43 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 x-linked congenital retinoschisis. An important gene associated with Retinoschisis 1, X-Linked, Juvenile is RS1 (Retinoschisin 1), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. The drugs Triamcinolone and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and endothelial, and related phenotypes are abnormality of eye movement and cataract

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 05-Apr-2021)

KEGG : 36 Retinoschisis (RS) is a retinal disorder with macular degeneration. In most cases, juvenile retinoschisis is transmitted as an X-linked recessive trait. The RS1 gene responsible for X-linked juvenile retinoschisis (XLRS) was discovered by positional cloning.

UniProtKB/Swiss-Prot : 72 Retinoschisis juvenile X-linked 1: 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.

Wikipedia : 73 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 267)
# Related Disease Score Top Affiliating Genes
1 juvenile retinoschisis 32.9 RS1 CDKL5
2 x-linked congenital retinoschisis 32.3 RS1 CDKL5
3 nicolaides-baraitser syndrome 32.0 RS1 CDKL5
4 vitreoretinal dystrophy 31.9 RS1 NR2E3
5 coats disease 31.9 RS1 RHO CRB1
6 bullous retinoschisis 31.7 SARM1 RS1 PRDX6
7 retinal perforation 31.7 RS1 RPE65
8 oguchi disease 31.7 RHO NYX GRK1 CACNA1F
9 enhanced s-cone syndrome 31.4 RPGR RPE65 RHO NR2E3 GRK1 CRX
10 choroidal dystrophy, central areolar, 1 31.4 RS1 RPE65 NR2E3 CRX CHM ABCA4
11 gyrate atrophy of choroid and retina 31.1 RS1 RPGR RPE65 RHO CHM BEST1
12 macular dystrophy, dominant cystoid 31.1 RS1 RPGR RPE65 RHO NR2E3 CRB1
13 macular retinal edema 30.9 RHO CRB1 BEST1
14 retinal degeneration 30.8 RS1 RPGR RPE65 RHO NR2E3 GRK1
15 choroid disease 30.8 RS1 RPGR RPE65 RHO CNGB3 CNGA3
16 myopia 30.8 TRPM1 RPGR RHO NYX CNGB3 CACNA1F
17 macular degeneration, age-related, 1 30.6 RS1 RPGR RPE65 RHO NR2E3 GRK1
18 yemenite deaf-blind hypopigmentation syndrome 30.5 RPE65 RHO ABCA4
19 retinal disease 30.5 RS1 RPGR RPE65 RHO NYX NR2E3
20 eye degenerative disease 30.4 RS1 RPGR RPE65 RHO NR2E3 GRK1
21 fundus albipunctatus 30.4 RS1 RPGR RPE65 RHO NR2E3 GRK1
22 stargardt disease 30.2 RS1 RPGR RPE65 RHO NR2E3 GRK1
23 eye disease 30.2 RS1 RPGR RPE65 RHO NYX NR2E3
24 scotoma 30.2 RPGR RPE65 RHO CRB1 CNGB3 CNGA3
25 bietti crystalline corneoretinal dystrophy 30.1 RPGR RPE65 ABCA4
26 peripheral retinal degeneration 30.1 RHO CRB1 BEST1 ABCA4
27 hereditary retinal dystrophy 30.1 RPE65 RHO CRX CRB1 BEST1 ABCA4
28 retinitis 30.0 RPGR RPE65 RHO CRB1 ABCA4
29 bestrophinopathy, autosomal recessive 30.0 RPE65 CRB1 BEST1 ABCA4
30 retinitis pigmentosa 29.9 TRPM1 RS1 RPGR RPE65 RHO NYX
31 usher syndrome, type i 29.9 RPGR RPE65 RHO CRX
32 nanophthalmos 29.8 RPE65 RHO NR2E3 CRB1 BEST1
33 achromatopsia 29.8 RS1 RPGR RPE65 RHO NYX NR2E3
34 leber plus disease 29.8 RS1 RPGR RPE65 RHO NYX NR2E3
35 exudative vitreoretinopathy 29.8 RPGR NR2E3 ABCA4
36 fundus dystrophy 29.7 TRPM1 RS1 RPGR RPE65 RHO NYX
37 congenital stationary night blindness 29.7 TRPM1 RS1 RPGR RPE65 RHO NYX
38 color blindness 29.7 RPGR RPE65 RHO NR2E3 CNGB3 CNGA3
39 choroideremia 29.5 RPGR RPE65 RHO CNGB3 CNGA3 CHM
40 pathologic nystagmus 29.1 RPGR RPE65 RHO NYX CRX CRB1
41 usher syndrome 29.1 RPGR RPE65 RHO NR2E3 GRK1 CRX
42 night blindness 28.8 TRPM1 RPGR RPE65 RHO NYX NR2E3
43 cone dystrophy 28.8 RPGR RPE65 RHO NR2E3 GRK1 CRX
44 retinoschisis, autosomal dominant 11.3
45 retinal detachment 11.2
46 flat retinoschisis 11.1
47 strabismus 11.0
48 neovascular glaucoma 11.0
49 cavitary optic disc anomalies 10.9
50 x-linked recessive disease 10.9

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 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of eye movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0000496
2 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
3 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
4 glaucoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000501
5 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
6 retinoschisis 58 31 hallmark (90%) Very frequent (99-80%) HP:0030502
7 macular atrophy 31 frequent (33%) HP:0007401
8 retinal pigment epithelial atrophy 31 frequent (33%) HP:0007722
9 retinal detachment 31 very rare (1%) HP:0000541
10 vitreous hemorrhage 31 very rare (1%) HP:0007902
11 mizuo phenomenon 31 very rare (1%) HP:0030824
12 progressive visual loss 31 HP:0000529
13 abnormality of the eye 58 Very frequent (99-80%)
14 hypermetropia 31 HP:0000540
15 retinal atrophy 31 HP:0001105
16 electronegative electroretinogram 31 HP:0007984
17 peripheral cystoid retinal degeneration 31 HP:0007667

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
retinal detachment
retinoschisis
retinal degeneration
retinal atrophy
choroidal sclerosis
more

Clinical features from OMIM®:

312700 (Updated 05-Apr-2021)

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

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.07 CDKL5
2 Decreased viability GR00055-A-2 10.07 CDKL5
3 Decreased viability GR00221-A-1 10.07 CDKL5 GRK1
4 Decreased viability GR00221-A-2 10.07 CDKL5
5 Decreased viability GR00221-A-3 10.07 CDKL5
6 Decreased viability GR00221-A-4 10.07 CDKL5
7 Decreased viability GR00249-S 10.07 CDKL5 CRX PRDX6
8 Decreased viability GR00301-A 10.07 GRK1
9 Decreased viability GR00342-S-1 10.07 CDKL5 GRK1
10 Decreased viability GR00342-S-2 10.07 GRK1
11 Decreased viability GR00342-S-3 10.07 CDKL5
12 Decreased viability GR00381-A-1 10.07 NYX
13 Decreased viability GR00381-A-2 10.07 NYX
14 Decreased viability GR00381-A-3 10.07 NYX
15 Decreased viability GR00386-A-1 10.07 CRX TRPM1
16 Decreased viability GR00402-S-2 10.07 BEST1 GRK1 NYX RHO SARM1 TRPM1
17 Increased the percentage of infected cells GR00402-S-1 8.32 CDKL5

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 ABCA4 CABP4 CACNA1F CDKL5 CHM CNGA3
2 pigmentation MP:0001186 9.61 ABCA4 BEST1 CHM CRB1 CRX RHO
3 vision/eye MP:0005391 9.58 ABCA4 BEST1 CABP4 CACNA1F CDKL5 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 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
2
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
3 Anesthetics Phase 4
4 Hormone Antagonists Phase 4
5 Triamcinolone diacetate Phase 4
6 Triamcinolone hexacetonide Phase 4
7 triamcinolone acetonide Phase 4
8 Immunosuppressive Agents Phase 4
9 Hormones Phase 4
10 glucocorticoids Phase 4
11 Immunologic Factors Phase 4
12 Anesthetics, Local Phase 4
13 Anti-Inflammatory Agents Phase 4
14
Bevacizumab Approved, Investigational 216974-75-3
15
Brinzolamide Approved 138890-62-7 68844
16
Dorzolamide Approved 120279-96-1 3154 5284549
17 Angiogenesis Inhibitors
18 Antineoplastic Agents, Immunological
19 Diminazene aceturate
20 Antihypertensive Agents
21 Carbonic Anhydrase Inhibitors

Interventional clinical trials:

(show all 16)
# 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 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 Combined Phako-Vitrectomy With ILM Peeling, Retinal Endophotocoagulation, and Intraoperative Use of Bevacizumab for Diffuse Diabetic Macular Edema Unknown status NCT01218750
5 Macular Tractional Retinoschisis in Proliferative Diabetic Retinopathy Unknown status NCT01312207
6 Application of Pars Plana Vitrectomy in the Treatment of Macular Schisis in High Myopic Eyes Unknown status NCT03586193
7 Vitrectomy Without Laser or Gas Tamponade for Optic Disc Pit Maculopathy Completed NCT01340703
8 Clinical Evaluation of Patients With X-linked Retinoschisis (XLRS) Completed NCT02331173 Dorzolamide 2% TID or brinzolamide 1% TID
9 Mothers' Experiences With X-linked Retinoschisis Compared to Fathers' Experiences Completed NCT03354403
10 Macular Retinoschisis and Detachment Associated With Glaucomatous Optic Neuropathy But Without Optic Disc Pit Nor High Myopia Completed NCT01862627
11 Use of Spectral Domain Optical Coherence Tomography to Differentiate and Follow-up Senile Retinoschisis and Retinal Detachment Completed NCT02682797
12 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
13 Patient Expectations When Enrolling in a Phase I/II RS1 Ocular Gene Transfer Clinical Trial Completed NCT02317354
14 Macular Detachment Associated With Intrachoroidal Cavitation Completed NCT01959724
15 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
16 X-Linked Juvenile Retinoschisis - Clinical and Molecular Studies Recruiting NCT00055029

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

Cochrane evidence based reviews: retinoschisis

Genetic Tests for Retinoschisis 1, X-Linked, Juvenile

Genetic tests related to Retinoschisis 1, X-Linked, Juvenile:

# Genetic test Affiliating Genes
1 Retinoschisis 29

Anatomical Context for Retinoschisis 1, X-Linked, Juvenile

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

40
Retina, Eye, Endothelial, Pineal

Publications for Retinoschisis 1, X-Linked, Juvenile

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

(show top 50) (show all 1399)
# Title Authors PMID Year
1
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 57 6 61
20061330 2010
2
Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy. 6 57 61
17525175 2007
3
X-linked retinoschisis in a female with a heterozygous RS1 missense mutation. 61 6 57
17304551 2007
4
Novel phenotypic and genotypic findings in X-linked retinoschisis. 6 57 61
17296904 2007
5
X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. 57 6 61
15937075 2005
6
Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. 57 6 61
15531314 2004
7
Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis. 6 57 61
12417531 2002
8
Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. 57 61 6
10922205 2000
9
X-linked retinoschisis with point mutations in the XLRS1 gene. 61 57 6
10636421 2000
10
First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis. 61 57 6
10636740 1999
11
Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland. 61 57 6
10234514 1999
12
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. 6 57 61
10533068 1999
13
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. 6 57 61
9618178 1998
14
Positional cloning of the gene associated with X-linked juvenile retinoschisis. 6 61 57
9326935 1997
15
Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients. 6 61
28272453 2017
16
Proteomic profiling of human intraschisis cavity fluid. 61 6
28450823 2017
17
Segmented swept source optical coherence tomography angiography assessment of the perifoveal vasculature in patients with X-linked juvenile retinoschisis: a serial case report. 6 61
29081674 2017
18
Dramatic regression of macular and peripheral retinoschisis with dorzolamide 2 % in X-linked retinoschisis: a case report. 6 61
27246168 2016
19
Detailed Morphological Changes of Foveoschisis in Patient with X-Linked Retinoschisis Detected by SD-OCT and Adaptive Optics Fundus Camera. 6 61
26356828 2015
20
Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing. 57 61
25999676 2015
21
Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide. 61 6
23514609 2014
22
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes. 6 61
23847049 2013
23
A phenotype-genotype correlation study of X-linked retinoschisis. 61 6
23453514 2013
24
Novel clinical manifestation of congenital X-linked retinoschisis. 6 61
22332228 2012
25
Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene. 57 61
22110067 2011
26
X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects. 61 6
22039241 2011
27
Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene. 6 61
21701876 2011
28
Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. 6 61
20809529 2010
29
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. 61 6
19324861 2009
30
Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin. 61 6
18834580 2009
31
Molecular genetic characteristics of X-linked retinoschisis in Koreans. 6 61
19390641 2009
32
Characterization and purification of the discoidin domain-containing protein retinoschisin and its interaction with galactose. 6 61
18690710 2008
33
Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography. 61 6
18541843 2008
34
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT. 61 6
17987333 2008
35
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. 6 61
19093009 2008
36
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families. 6 61
18369700 2008
37
Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation. 6 61
17631851 2007
38
Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. 61 6
17615541 2007
39
Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis. 6 61
17515881 2007
40
X-linked retinoschisis: an update. 57 61
17172462 2007
41
Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation. 6 61
16361673 2006
42
Identification of XLRS1 gene mutation (608C > T) in a Portuguese family with juvenile retinoschisis. 6 61
16167295 2005
43
Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease. 61 6
16272055 2005
44
Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia. 6 61
15932525 2005
45
Optical coherence tomography findings in familial foveal retinoschisis. 61 57
14700666 2004
46
Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome. 61 6
12920343 2003
47
Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. 6 61
12928282 2003
48
Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin. 61 6
12782284 2003
49
Hereditary X-linked juvenile retinoschisis: a review of the role of Müller cells. 57 61
12096974 2002
50
Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. 57 61
11983912 2002

Variations for Retinoschisis 1, X-Linked, Juvenile

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

6 (show all 49)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDKL5 , RS1 NM_000330.3(RS1):c.216G>C (p.Glu72Asp) SNV Pathogenic 9889 rs104894932 GRCh37: X:18665421-18665421
GRCh38: X:18647301-18647301
2 CDKL5 , RS1 NM_000330.3(RS1):c.221G>T (p.Gly74Val) SNV Pathogenic 9890 rs104894933 GRCh37: X:18665416-18665416
GRCh38: X:18647296-18647296
3 RS1 NM_000330.3(RS1):c.38T>C (p.Leu13Pro) SNV Pathogenic 9892 rs104894935 GRCh37: X:18690151-18690151
GRCh38: X:18672031-18672031
4 CDKL5 , RS1 NM_003159.2(CDKL5):c.2714-3995A>G SNV Pathogenic 9893 rs104894929 GRCh37: X:18660132-18660132
GRCh38: X:18642012-18642012
5 RS1 RS1, 4-BP INS Insertion Pathogenic 9894 GRCh37:
GRCh38:
6 CDKL5 , RS1 NM_000330.3(RS1):c.608C>T (p.Pro203Leu) SNV Pathogenic 9895 rs104894930 GRCh37: X:18660191-18660191
GRCh38: X:18642071-18642071
7 CDKL5 , RS1 NM_000330.3(RS1):c.286T>C (p.Trp96Arg) SNV Pathogenic 9886 rs61752063 GRCh37: X:18665351-18665351
GRCh38: X:18647231-18647231
8 CDKL5 , RS1 NM_000330.3(RS1):c.208G>A (p.Gly70Ser) SNV Pathogenic 372496 rs62645894 GRCh37: X:18665429-18665429
GRCh38: X:18647309-18647309
9 CDKL5 , RS1 NM_000330.3(RS1):c.366G>A (p.Trp122Ter) SNV Pathogenic 547067 rs61752147 GRCh37: X:18662706-18662706
GRCh38: X:18644586-18644586
10 CDKL5 , RS1 NM_000330.3(RS1):c.185-1G>C SNV Pathogenic 98910 rs281865344 GRCh37: X:18665453-18665453
GRCh38: X:18647333-18647333
11 CDKL5 , RS1 NM_000330.3(RS1):c.325G>C (p.Gly109Arg) SNV Pathogenic 9891 rs104894934 GRCh37: X:18665312-18665312
GRCh38: X:18647192-18647192
12 CDKL5 , RS1 NM_000330.3(RS1):c.305G>A (p.Arg102Gln) SNV Pathogenic 9896 rs61752068 GRCh37: X:18665332-18665332
GRCh38: X:18647212-18647212
13 CDKL5 , RS1 NM_000330.4(RS1):c.199_206dup (p.Gly70fs) Duplication Pathogenic 813235 GRCh37: X:18665430-18665431
GRCh38: X:18647310-18647311
14 CDKL5 , RS1 NM_000330.3(RS1):c.523-2A>G SNV Pathogenic 98982 rs281865349 GRCh37: X:18660278-18660278
GRCh38: X:18642158-18642158
15 CDKL5 , RS1 NM_000330.4(RS1):c.632C>T (p.Ala211Val) SNV Pathogenic 812429 rs1602308821 GRCh37: X:18660167-18660167
GRCh38: X:18642047-18642047
16 CDKL5 , RS1 NM_000330.3(RS1):c.214G>A (p.Glu72Lys) SNV Pathogenic/Likely pathogenic 9888 rs104894928 GRCh37: X:18665423-18665423
GRCh38: X:18647303-18647303
17 CDKL5 , RS1 NM_000330.4(RS1):c.215A>G (p.Glu72Gly) SNV Likely pathogenic 992968 GRCh37: X:18665422-18665422
GRCh38: X:18647302-18647302
18 CDKL5 , RS1 NM_000330.3(RS1):c.625C>T (p.Arg209Cys) SNV Likely pathogenic 99006 rs281865361 GRCh37: X:18660174-18660174
GRCh38: X:18642054-18642054
19 CDKL5 , RS1 NM_000330.3(RS1):c.522+1G>A SNV Likely pathogenic 98979 rs281865348 GRCh37: X:18662549-18662549
GRCh38: X:18644429-18644429
20 CDKL5 , RS1 NM_000330.3(RS1):c.422G>A (p.Arg141His) SNV Likely pathogenic 98960 rs61752159 GRCh37: X:18662650-18662650
GRCh38: X:18644530-18644530
21 CDKL5 , RS1 NM_000330.3(RS1):c.304C>T (p.Arg102Trp) SNV Likely pathogenic 9887 rs61752067 GRCh37: X:18665333-18665333
GRCh38: X:18647213-18647213
22 CDKL5 , RS1 NM_000330.3(RS1):c.209G>A (p.Gly70Asp) SNV Likely pathogenic 98915 rs62645895 GRCh37: X:18665428-18665428
GRCh38: X:18647308-18647308
23 RS1 NM_000330.4(RS1):c.53-713_78+266del Deletion Likely pathogenic 1048161 GRCh37: X:18675494-18676498
GRCh38: X:18657374-18658378
24 CDKL5 , RS1 NM_000330.3(RS1):c.598C>T (p.Arg200Cys) SNV Likely pathogenic 99000 rs281865357 GRCh37: X:18660201-18660201
GRCh38: X:18642081-18642081
25 CDKL5 , RS1 NM_000330.3(RS1):c.544C>T (p.Arg182Cys) SNV Likely pathogenic 98986 rs61753171 GRCh37: X:18660255-18660255
GRCh38: X:18642135-18642135
26 RS1 NM_000330.4(RS1):c.150G>A (p.Trp50Ter) SNV Likely pathogenic 1048173 GRCh37: X:18674807-18674807
GRCh38: X:18656687-18656687
27 CDKL5 , RS1 NM_000330.3(RS1):c.574C>T (p.Pro192Ser) SNV Likely pathogenic 98990 rs61753174 GRCh37: X:18660225-18660225
GRCh38: X:18642105-18642105
28 CDKL5 , RS1 NM_000330.3(RS1):c.673T>C (p.Ter225Arg) SNV Likely pathogenic 371642 rs1057517433 GRCh37: X:18660126-18660126
GRCh38: X:18642006-18642006
29 CDKL5 , RS1 NM_000330.3(RS1):c.266A>G (p.Tyr89Cys) SNV Likely pathogenic 98923 rs61752060 GRCh37: X:18665371-18665371
GRCh38: X:18647251-18647251
30 CDKL5 , RS1 NM_000330.3(RS1):c.498C>A (p.Tyr166Ter) SNV Likely pathogenic 370754 rs1057516744 GRCh37: X:18662574-18662574
GRCh38: X:18644454-18644454
31 CDKL5 , RS1 NM_000330.4(RS1):c.649del (p.Leu217fs) Deletion Likely pathogenic 931958 GRCh37: X:18660150-18660150
GRCh38: X:18642030-18642030
32 CDKL5 , RS1 NM_000330.3(RS1):c.578C>T (p.Pro193Leu) SNV Likely pathogenic 98994 rs281865352 GRCh37: X:18660221-18660221
GRCh38: X:18642101-18642101
33 CDKL5 , RS1 NM_000330.3(RS1):c.608C>T (p.Pro203Leu) SNV Likely pathogenic 9895 rs104894930 GRCh37: X:18660191-18660191
GRCh38: X:18642071-18642071
34 CDKL5 , RS1 NM_000330.3(RS1):c.326G>A (p.Gly109Glu) SNV Likely pathogenic 98937 rs281865345 GRCh37: X:18665311-18665311
GRCh38: X:18647191-18647191
35 CDKL5 , RS1 NM_000330.3(RS1):c.329G>A (p.Cys110Tyr) SNV Likely pathogenic 98938 rs61752075 GRCh37: X:18662743-18662743
GRCh38: X:18644623-18644623
36 CDKL5 , RS1 NM_000330.3(RS1):c.590G>A (p.Arg197His) SNV Likely pathogenic 98997 rs281865355 GRCh37: X:18660209-18660209
GRCh38: X:18642089-18642089
37 CDKL5 , RS1 NM_000330.3(RS1):c.421C>T (p.Arg141Cys) SNV Likely pathogenic 98959 rs61752158 GRCh37: X:18662651-18662651
GRCh38: X:18644531-18644531
38 CDKL5 , RS1 NM_000330.3(RS1):c.418G>A (p.Gly140Arg) SNV Likely pathogenic 98956 rs61752156 GRCh37: X:18662654-18662654
GRCh38: X:18644534-18644534
39 CDKL5 , RS1 NM_000330.4(RS1):c.523-10_523-7del Deletion Uncertain significance 840240 GRCh37: X:18660283-18660286
GRCh38: X:18642163-18642166
40 CDKL5 , RS1 NM_000330.4(RS1):c.320G>T (p.Gly107Val) SNV Uncertain significance 930876 GRCh37: X:18665317-18665317
GRCh38: X:18647197-18647197
41 CDKL5 , RS1 NM_000330.3(RS1):c.349C>T (p.Gln117Ter) SNV Uncertain significance 68072 rs199469696 GRCh37: X:18662723-18662723
GRCh38: X:18644603-18644603
42 RS1 NM_000330.4(RS1):c.184+9C>T SNV Uncertain significance 755144 rs377631416 GRCh37: X:18674764-18674764
GRCh38: X:18656644-18656644
43 CDKL5 , RS1 NM_000330.4(RS1):c.548C>T (p.Thr183Ile) SNV Likely benign 736967 rs150172233 GRCh37: X:18660251-18660251
GRCh38: X:18642131-18642131
44 CDKL5 , RS1 NM_000330.4(RS1):c.285G>A (p.Ser95=) SNV Likely benign 738705 rs143920122 GRCh37: X:18665352-18665352
GRCh38: X:18647232-18647232
45 CDKL5 , RS1 NM_000330.4(RS1):c.471C>T (p.Thr157=) SNV Likely benign 797944 rs754381417 GRCh37: X:18662601-18662601
GRCh38: X:18644481-18644481
46 CDKL5 , RS1 NM_000330.4(RS1):c.258G>A (p.Pro86=) SNV Benign 791378 rs147290350 GRCh37: X:18665379-18665379
GRCh38: X:18647259-18647259
47 RS1 NM_000330.4(RS1):c.76G>A (p.Glu26Lys) SNV Benign 741219 rs140983930 GRCh37: X:18675762-18675762
GRCh38: X:18657642-18657642
48 RS1 NM_000330.4(RS1):c.7C>G (p.Arg3Gly) SNV Benign 757382 rs571944937 GRCh37: X:18690182-18690182
GRCh38: X:18672062-18672062
49 CDKL5 , RS1 NM_000330.4(RS1):c.295A>G (p.Asn99Asp) SNV Benign 710170 rs144683916 GRCh37: X:18665342-18665342
GRCh38: X:18647222-18647222

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

72 (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 cell projection GO:0042995 9.8 SARM1 RPGR RHO GRK1 CRB1 CDKL5
2 photoreceptor inner segment GO:0001917 9.5 RS1 RHO CRB1
3 photoreceptor outer segment GO:0001750 9.17 RPGR RHO GRK1 CRB1 CNGB3 CACNA1F
4 transmembrane transporter complex GO:1902495 9.16 CNGB3 CNGA3
5 photoreceptor disc membrane GO:0097381 9.13 RHO GRK1 ABCA4

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.92 TRPM1 CNGB3 CNGA3 CACNA1F BEST1
2 response to stimulus GO:0050896 9.83 TRPM1 RS1 RPGR RPE65 RHO NYX
3 retinoid metabolic process GO:0001523 9.61 RPE65 RHO ABCA4
4 photoreceptor cell maintenance GO:0045494 9.58 RHO CRB1 ABCA4
5 retina development in camera-type eye GO:0060041 9.56 RPE65 RHO NR2E3 CRB1
6 visual perception GO:0007601 9.55 TRPM1 RS1 RPGR RPE65 RHO NYX
7 phototransduction GO:0007602 9.54 RHO NR2E3 CABP4
8 eye photoreceptor cell development GO:0042462 9.51 NR2E3 CRB1
9 cellular response to light stimulus GO:0071482 9.5 TRPM1 RHO CRB1
10 retina morphogenesis in camera-type eye GO:0060042 9.49 RPE65 CRB1
11 rhodopsin mediated signaling pathway GO:0016056 9.48 RHO GRK1
12 phototransduction, visible light GO:0007603 9.46 RHO ABCA4
13 detection of light stimulus involved in visual perception GO:0050908 9.46 RPE65 CRB1 CACNA1F BEST1

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

# Name GO ID Score Top Affiliating Genes
1 cGMP binding GO:0030553 9.16 CNGB3 CNGA3
2 intracellular cAMP-activated cation channel activity GO:0005222 8.96 CNGB3 CNGA3
3 intracellular cGMP-activated cation channel activity GO:0005223 8.62 CNGB3 CNGA3

Sources for Retinoschisis 1, X-Linked, Juvenile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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