XLRS1
MCID: RTN209
MIFTS: 53

Retinoschisis 1, X-Linked, Juvenile (XLRS1)

Categories: Eye diseases, Fetal diseases, Genetic 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 73
Juvenile Retinoschisis 24 53 25 37 29 55 6
Retinoschisis 57 12 76 13 44 15 73
X-Linked Juvenile Retinoschisis 12 24 53 25 59
X-Linked Retinoschisis 12 24 53 25 59
X-Linked Juvenile Retinoschisis 1 12 15
Xlrs1 57 75
Xlrs 12 59
Rs1 57 75
Xjr 53 25
Retinoschisis Juvenile X Chromosome-Linked 53
Congenital X-Linked Retinoschisis 25
Retinoschisis Juvenile X-Linked 1 75
Retinoschisis, Juvenile, X-Linked 73
Retinoschisis, Degenerative 73
Degenerative Retinoschisis 25
Retinoschisis, X-Linked 76
Retinoschisis X-Linked 53
Rs 57

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
x-linked recessive

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


HPO:

32
retinoschisis 1, x-linked, juvenile:
Inheritance x-linked dominant inheritance


GeneReviews:

24
Penetrance X-linked juvenile retinoschisis exhibits complete penetrance with variable expressivity...

Classifications:



External Ids:

OMIM 57 312700
Disease Ontology 12 DOID:0060763 DOID:8465
ICD10 33 Q14.1 H33.10
ICD9CM 35 361.10
MeSH 44 D041441
NCIt 50 C85046
SNOMED-CT 68 44268007
Orphanet 59 ORPHA792
ICD10 via Orphanet 34 Q14.1
UMLS via Orphanet 74 C0271091
KEGG 37 H01766

Summaries for Retinoschisis 1, X-Linked, Juvenile

NIH Rare Diseases : 53 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.

MalaCards based summary : Retinoschisis 1, X-Linked, Juvenile, also known as juvenile retinoschisis, is related to enhanced s-cone syndrome and coats disease. An important gene associated with Retinoschisis 1, X-Linked, Juvenile is RS1 (Retinoschisin 1). The drugs Remifentanil and Meperidine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone, and related phenotypes are abnormality of eye movement and cataract

Disease Ontology : 12 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.

Genetics Home Reference : 25 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.

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)

UniProtKB/Swiss-Prot : 75 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 : 76 Retinoschisis is an eye disease characterized by the abnormal splitting of the retina''s neurosensory... more...

GeneReviews: NBK1222

Related Diseases for Retinoschisis 1, X-Linked, Juvenile

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

(show top 50) (show all 173)
# Related Disease Score Top Affiliating Genes
1 enhanced s-cone syndrome 32.1 CRX KCNV2
2 coats disease 31.8 CRB1 RS1
3 retinitis pigmentosa 31.2 CRB1 CRX NYX RPE65 RS1
4 retinal disease 31.0 CNGB3 CRB1 CRX NYX RPE65 RS1
5 fundus dystrophy 30.8 CNGB3 CRB1 CRX KCNV2 RPE65 RS1
6 leber congenital amaurosis 4 29.7 CRX RPE65
7 retinal degeneration 29.6 CRB1 CRX RPE65
8 cone dystrophy 29.4 CNGB3 KCNV2
9 congenital stationary night blindness 29.4 CNGB3 NYX RGS11 RPE65
10 retinoschisis of fovea 12.3
11 retinoschisis, autosomal dominant 12.1
12 flat retinoschisis 12.1
13 reye syndrome 12.1
14 severe combined immunodeficiency with sensitivity to ionizing radiation 11.8
15 lymphoma, hodgkin, classic 11.5
16 bullous retinoschisis 11.4
17 oguchi disease 11.4
18 goldmann-favre syndrome 11.4
19 myelodysplastic syndrome 11.3
20 retinal detachment 11.3
21 cavitary optic disc anomalies 11.1
22 ewing sarcoma 11.1
23 x-linked recessive disease 11.1
24 vitreoretinal dystrophy 11.1
25 neovascular glaucoma 11.1
26 hereditary retinal dystrophy 11.1
27 roberts syndrome 11.0
28 lymphoma, hodgkin, x-linked pseudoautosomal 11.0
29 richter's syndrome 11.0
30 strabismus 11.0
31 early infantile epileptic encephalopathy 11.0
32 cholera 10.5
33 cerebrotendinous xanthomatosis 10.3
34 myopia 10.3
35 macular holes 10.2
36 degos 'en cocarde' erythrokeratoderma 10.2
37 optic disc pit 10.2
38 cone-rod dystrophy 8 10.1 CNGB3 CRX
39 choroid disease 10.1 CNGB3 RPE65
40 stargardt disease 1 10.1 CNGB3 CRX
41 cone-rod dystrophy 9 10.1 CNGB3 CRX
42 red-green color blindness 10.1 CNGB3 RPE65
43 fabry disease 10.1
44 neurotic disorder 10.1
45 norrie disease 10.0
46 microvascular complications of diabetes 1 10.0
47 microvascular complications of diabetes 2 10.0
48 microvascular complications of diabetes 5 10.0
49 uveitis 10.0
50 optic nerve disease 10.0

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinal detachment
retinoschisis
retinal degeneration
retinal atrophy
choroidal sclerosis
more

Clinical features from OMIM:

312700

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

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of eye movement 59 32 hallmark (90%) Very frequent (99-80%) HP:0000496
2 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
3 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
4 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
5 glaucoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000501
6 retinoschisis 59 32 hallmark (90%) Very frequent (99-80%) HP:0030502
7 abnormality of the eye 59 Very frequent (99-80%)
8 progressive visual loss 32 HP:0000529
9 retinal detachment 32 very rare (1%) HP:0000541
10 hypermetropia 32 HP:0000540
11 retinal atrophy 32 HP:0001105
12 vitreous hemorrhage 32 very rare (1%) HP:0007902
13 macular atrophy 32 frequent (33%) HP:0007401
14 retinal pigment epithelial atrophy 32 frequent (33%) HP:0007722
15 peripheral cystoid retinal degeneration 32 HP:0007667
16 electronegative electroretinogram 32 HP:0007984
17 mizuo phenomenon 32 very rare (1%) HP:0030824

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 CNGB3 CRB1 CRX RGS11 RGS7 RPE65
2 pigmentation MP:0001186 9.26 CRB1 CRX RPE65 RS1
3 vision/eye MP:0005391 9.23 CNGB3 CRB1 CRX NYX RGS11 RGS7

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 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Remifentanil Approved Phase 4 132875-61-7 60815
2
Meperidine Approved Phase 4 57-42-1 4058
3 Adjuvants, Anesthesia Phase 4
4 Analgesics, Opioid Phase 4
5 Analgesics Phase 4
6 Hypnotics and Sedatives Phase 4
7 Anesthetics Phase 4
8 Narcotics Phase 4
9 Anesthetics, Intravenous Phase 4
10 Peripheral Nervous System Agents Phase 4
11 Central Nervous System Depressants Phase 4
12 Anesthetics, General Phase 4
13
Montelukast Approved Phase 1 158966-92-8 5281040
14 Endostatins Phase 1 71581480
15 Angiostatins Phase 1
16 Leukotriene Antagonists Phase 1
17 Hormones Phase 1
18 Hormone Antagonists Phase 1
19 Respiratory System Agents Phase 1
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
21 Anti-Asthmatic Agents Phase 1
22
Dorzolamide Approved 120279-96-1 5284549 3154
23
Brinzolamide Approved 138890-62-7 68844
24 Anti-Bacterial Agents
25 Anti-Infective Agents
26 Antihypertensive Agents
27 Carbonic Anhydrase Inhibitors

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Comparison Between Two Different Dosages of Remifentanil During Colonoscopy Completed NCT01229527 Phase 4 Remifentanil;Remifentanil;Meperidine
2 Evaluate the Efficacy and Safety of N02RS1 in Patient With Acute Bronchitis Completed NCT02637310 Phase 2 N02RS1 1200mg;Placebo
3 Comparative Evaluate the Efficacy to Acute and Chronic Bronchitis Completed NCT01979926 Phase 2 Combination of Broussonetia spp and Lonicera spp
4 Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis Recruiting NCT02317887 Phase 1, Phase 2
5 Safety and Efficacy of rAAV-hRS1 in Patients With X-linked Retinoschisis (XLRS) Active, not recruiting NCT02416622 Phase 1, Phase 2
6 Phase I Dose Escalation Safety Study of RetinoStat in Advanced Age-Related Macular Degeneration (AMD) Completed NCT01301443 Phase 1 Subretinally injected RetinoStat
7 Safety and the Pharmacokinetic Study of Characteristics of MKT-N2 (Montelukast) and Singulair® (Montelukast Sodium)to Treat Asthma Completed NCT02029313 Phase 1 Montelukast;Montelukast sodium
8 A Follow-up Study to Evaluate the Safety of RetinoStat® in Patients With Age-Related Macular Degeneration Active, not recruiting NCT01678872 Phase 1 RetinoStat
9 People s Expectations When Enrolling in a Phase I/II RS1 Ocular Gene Transfer Clinical Trial Completed NCT02317354
10 Inter-Mountain Project on Antimicrobial Resistance and Therapy (IMPART) Completed NCT00235703
11 Clinical Evaluation of Patients With X-linked Retinoschisis Completed NCT02331173 Dorzolamide 2% TID or brinzolamide 1% TID
12 Plasticity of the Compassionate Brain Completed NCT01833104 Not Applicable
13 Mothers Experiences With X-linked Retinoschisis Compared to Fathers Experiences Enrolling by invitation NCT03354403

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 Juvenile Retinoschisis 29 RS1

Anatomical Context for Retinoschisis 1, X-Linked, Juvenile

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

41
Retina, Eye, Bone, Lung, Brain, Thyroid, Bone Marrow

Publications for Retinoschisis 1, X-Linked, Juvenile

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

(show top 50) (show all 147)
# Title Authors Year
1
Diurnal variations of foveoschisis by optical coherence tomography in patients with RS1 X-linked juvenile retinoschisis. ( 29902095 )
2018
2
Generation of induced pluripotent stem cells from a patient with X-linked juvenile retinoschisis. ( 29674172 )
2018
3
Outcome of vitreoretinal surgery for rhegmatogenous retinal detachment in X-linked juvenile retinoschisis. ( 30451188 )
2018
4
Commentary: Nuances in management of rhegmatogenous retinal detachment in X-linked juvenile retinoschisis. ( 30451189 )
2018
5
Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis. ( 30040949 )
2018
6
The treatment of refractory angle-closure glaucoma in a patient with X-linked juvenile retinoschisis. ( 30081704 )
2018
7
X-linked juvenile retinoschisis: phenotypic and genetic characterization. ( 30450322 )
2018
8
Segmented swept source optical coherence tomography angiography assessment of the perifoveal vasculature in patients with X-linked juvenile retinoschisis: a serial case report. ( 29081674 )
2017
9
Recapitulating X-Linked Juvenile Retinoschisis in Mouse Model by Knock-In Patient-Specific Novel Mutation. ( 29379415 )
2017
10
Treatment of cystic cavities in X-linked juvenile retinoschisis: The first sequential cross-over treatment regimen with dorzolamide. ( 29260104 )
2017
11
Assessment of Spectral-Domain Optical Coherence Tomography Findings in Three Cases of X-Linked Juvenile Retinoschisis in the Same Family. ( 29109902 )
2017
12
Optical Coherence Tomography Evolution in a Case of X-Linked Juvenile Retinoschisis: 15 Years of Follow-Up. ( 29033824 )
2017
13
Carbonic Anhydrase Inhibitors for the Treatment of Cystic Macular Lesions in Children With X-Linked Juvenile Retinoschisis. ( 27699410 )
2016
14
The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen-activated protein kinase signalling and apoptosis in the retina. ( 27995734 )
2016
15
Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis. ( 27997221 )
2016
16
En face swept-source optical coherence tomographic analysis of X-linked juvenile retinoschisis. ( 29503894 )
2016
17
Different foveal schisis patterns in each retinal layer in eyes with hereditary juvenile retinoschisis evaluated by en-face optical coherence tomography. ( 27853955 )
2016
18
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
19
A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family. ( 25168411 )
2014
20
X-LINKED JUVENILE RETINOSCHISIS IN A CONSANGUINEOUS FAMILY: Phenotypic Variability and Report of a Homozygous Female Patient. ( 25054456 )
2014
21
A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family. ( 25393829 )
2014
22
Genetic and phenotypic characteristics of six Chinese families with X-linked juvenile retinoschisis. ( 24238536 )
2013
23
Topical brinzolamide for foveal schisis in juvenile retinoschisis. ( 23541677 )
2013
24
X-linked juvenile retinoschisis in females and response to carbonic anhydrase inhibitors: case report and review of the literature. ( 23163265 )
2013
25
X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships. ( 24138048 )
2013
26
Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis. ( 25343070 )
2012
27
Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis. ( 23288992 )
2012
28
Dextran and protamine-based solid lipid nanoparticles as potential vectors for the treatment of X-linked juvenile retinoschisis. ( 22295905 )
2012
29
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. ( 22245536 )
2012
30
Novel RS1 mutations associated with X-linked juvenile retinoschisis. ( 22245991 )
2012
31
Thirty-two years follow-up of X-linked juvenile retinoschisis in a Chinese patient with RS1 mutation. ( 22171610 )
2012
32
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
33
Macular hole secondary to X-linked juvenile retinoschisis. ( 21323260 )
2011
34
The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis. ( 21196491 )
2011
35
Spontaneous closure of macular hole in a patient with x-linked juvenile retinoschisis. ( 25390677 )
2010
36
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
37
Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis. ( 20151283 )
2010
38
R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family. ( 20806044 )
2010
39
In vivo imaging of the mouse model of X-linked juvenile retinoschisis with fourier domain optical coherence tomography. ( 19182246 )
2009
40
Infantile vitreous hemorrhage as the initial presentation of X-linked juvenile retinoschisis. ( 19568363 )
2009
41
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. ( 19324861 )
2009
42
Genetic and clinical evaluation of juvenile retinoschisis. ( 19393523 )
2009
43
CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene. ( 18927113 )
2008
44
Use of topical dorzolamide for patients with X-linked juvenile retinoschisis: case report. ( 18516436 )
2008
45
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families. ( 18369700 )
2008
46
Molecular analysis of the XLRS1 gene in 4 females affected with X-linked juvenile retinoschisis. ( 18982040 )
2008
47
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. ( 19093009 )
2008
48
Outer retinal corrugations in x-linked juvenile retinoschisis. ( 17296908 )
2007
49
Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. ( 17615541 )
2007
50
Novel human pathological mutations. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. ( 17879437 )
2007

Variations for Retinoschisis 1, X-Linked, Juvenile

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

75 (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

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

6 (show all 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 RS1 NM_000330.3(RS1): c.286T> C (p.Trp96Arg) single nucleotide variant Pathogenic rs61752063 GRCh37 Chromosome X, 18665351: 18665351
2 RS1 NM_000330.3(RS1): c.286T> C (p.Trp96Arg) single nucleotide variant Pathogenic rs61752063 GRCh38 Chromosome X, 18647231: 18647231
3 RS1 NM_000330.3(RS1): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs61752067 GRCh37 Chromosome X, 18665333: 18665333
4 RS1 NM_000330.3(RS1): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs61752067 GRCh38 Chromosome X, 18647213: 18647213
5 RS1 NM_000330.3(RS1): c.214G> A (p.Glu72Lys) single nucleotide variant Pathogenic rs104894928 GRCh37 Chromosome X, 18665423: 18665423
6 RS1 NM_000330.3(RS1): c.214G> A (p.Glu72Lys) single nucleotide variant Pathogenic rs104894928 GRCh38 Chromosome X, 18647303: 18647303
7 RS1 NM_000330.3(RS1): c.216G> C (p.Glu72Asp) single nucleotide variant Pathogenic rs104894932 GRCh37 Chromosome X, 18665421: 18665421
8 RS1 NM_000330.3(RS1): c.216G> C (p.Glu72Asp) single nucleotide variant Pathogenic rs104894932 GRCh38 Chromosome X, 18647301: 18647301
9 RS1 NM_000330.3(RS1): c.221G> T (p.Gly74Val) single nucleotide variant Pathogenic rs104894933 GRCh37 Chromosome X, 18665416: 18665416
10 RS1 NM_000330.3(RS1): c.221G> T (p.Gly74Val) single nucleotide variant Pathogenic rs104894933 GRCh38 Chromosome X, 18647296: 18647296
11 RS1 NM_000330.3(RS1): c.325G> C (p.Gly109Arg) single nucleotide variant Pathogenic rs104894934 GRCh37 Chromosome X, 18665312: 18665312
12 RS1 NM_000330.3(RS1): c.325G> C (p.Gly109Arg) single nucleotide variant Pathogenic rs104894934 GRCh38 Chromosome X, 18647192: 18647192
13 RS1 NM_000330.3(RS1): c.38T> C (p.Leu13Pro) single nucleotide variant Pathogenic rs104894935 GRCh37 Chromosome X, 18690151: 18690151
14 RS1 NM_000330.3(RS1): c.38T> C (p.Leu13Pro) single nucleotide variant Pathogenic rs104894935 GRCh38 Chromosome X, 18672031: 18672031
15 RS1 NM_000330.3(RS1): c.667T> C (p.Cys223Arg) single nucleotide variant Pathogenic rs104894929 GRCh37 Chromosome X, 18660132: 18660132
16 RS1 NM_000330.3(RS1): c.667T> C (p.Cys223Arg) single nucleotide variant Pathogenic rs104894929 GRCh38 Chromosome X, 18642012: 18642012
17 RS1 RS1, 4-BP INS insertion Pathogenic
18 RS1 NM_000330.3(RS1): c.608C> T (p.Pro203Leu) single nucleotide variant Pathogenic rs104894930 GRCh37 Chromosome X, 18660191: 18660191
19 RS1 NM_000330.3(RS1): c.608C> T (p.Pro203Leu) single nucleotide variant Pathogenic rs104894930 GRCh38 Chromosome X, 18642071: 18642071
20 RS1 NM_000330.3(RS1): c.305G> A (p.Arg102Gln) single nucleotide variant Pathogenic rs61752068 GRCh37 Chromosome X, 18665332: 18665332
21 RS1 NM_000330.3(RS1): c.305G> A (p.Arg102Gln) single nucleotide variant Pathogenic rs61752068 GRCh38 Chromosome X, 18647212: 18647212
22 RS1 NM_000330.3(RS1): c.349C> T (p.Gln117Ter) single nucleotide variant Uncertain significance rs199469696 GRCh37 Chromosome X, 18662723: 18662723
23 RS1 NM_000330.3(RS1): c.349C> T (p.Gln117Ter) single nucleotide variant Uncertain significance rs199469696 GRCh38 Chromosome X, 18644603: 18644603
24 RS1 NM_000330.3(RS1): c.266A> G (p.Tyr89Cys) single nucleotide variant Likely pathogenic rs61752060 GRCh37 Chromosome X, 18665371: 18665371
25 RS1 NM_000330.3(RS1): c.266A> G (p.Tyr89Cys) single nucleotide variant Likely pathogenic rs61752060 GRCh38 Chromosome X, 18647251: 18647251
26 RS1 NM_000330.3(RS1): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic/Likely pathogenic rs61752159 GRCh37 Chromosome X, 18662650: 18662650
27 RS1 NM_000330.3(RS1): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic/Likely pathogenic rs61752159 GRCh38 Chromosome X, 18644530: 18644530
28 RS1 NM_000330.3(RS1): c.522+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs281865348 GRCh37 Chromosome X, 18662549: 18662549
29 RS1 NM_000330.3(RS1): c.522+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs281865348 GRCh38 Chromosome X, 18644429: 18644429
30 RS1 NM_000330.3(RS1): c.574C> T (p.Pro192Ser) single nucleotide variant Likely pathogenic rs61753174 GRCh37 Chromosome X, 18660225: 18660225
31 RS1 NM_000330.3(RS1): c.574C> T (p.Pro192Ser) single nucleotide variant Likely pathogenic rs61753174 GRCh38 Chromosome X, 18642105: 18642105
32 CDKL5; RS1 NM_000330.3(RS1): c.590G> A (p.Arg197His) single nucleotide variant Pathogenic/Likely pathogenic rs281865355 GRCh37 Chromosome X, 18660209: 18660209
33 CDKL5; RS1 NM_000330.3(RS1): c.590G> A (p.Arg197His) single nucleotide variant Pathogenic/Likely pathogenic rs281865355 GRCh38 Chromosome X, 18642089: 18642089
34 CDKL5; RS1 NM_000330.3(RS1): c.625C> T (p.Arg209Cys) single nucleotide variant Likely pathogenic rs281865361 GRCh37 Chromosome X, 18660174: 18660174
35 CDKL5; RS1 NM_000330.3(RS1): c.625C> T (p.Arg209Cys) single nucleotide variant Likely pathogenic rs281865361 GRCh38 Chromosome X, 18642054: 18642054
36 RS1 NM_000330.3(RS1): c.673T> C (p.Ter225Arg) single nucleotide variant Likely pathogenic rs1057517433 GRCh37 Chromosome X, 18660126: 18660126
37 RS1 NM_000330.3(RS1): c.673T> C (p.Ter225Arg) single nucleotide variant Likely pathogenic rs1057517433 GRCh38 Chromosome X, 18642006: 18642006
38 RS1 NM_000330.3(RS1): c.498C> A (p.Tyr166Ter) single nucleotide variant Likely pathogenic rs1057516744 GRCh38 Chromosome X, 18644454: 18644454
39 RS1 NM_000330.3(RS1): c.498C> A (p.Tyr166Ter) single nucleotide variant Likely pathogenic rs1057516744 GRCh37 Chromosome X, 18662574: 18662574

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

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.35 CNGB3 CRX NYX RPE65 RS1
2 visual perception GO:0007601 9.02 CNGB3 CRX NYX RPE65 RS1

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylserine binding GO:0001786 8.96 RPE65 RS1
2 G-protein beta-subunit binding GO:0031681 8.62 RGS11 RGS7

Sources for Retinoschisis 1, X-Linked, Juvenile

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