XLRS1
MCID: RTN025
MIFTS: 58

Retinoschisis (XLRS1) malady

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

Aliases & Classifications for Retinoschisis

Aliases & Descriptions for Retinoschisis:

Name: Retinoschisis 54 12 13 42 14 69
X-Linked Juvenile Retinoschisis 12 23 50 24 25 56
X-Linked Retinoschisis 12 23 50 24 25 56
Juvenile Retinoschisis 23 50 24 25 29 52
Retinoschisis 1, X-Linked, Juvenile 54 69
X-Linked Juvenile Retinoschisis 1 12 14
Xlrs 12 56
Xjr 50 25
Retinoschisis Juvenile X Chromosome-Linked 50
Congenital X-Linked Retinoschisis 25
Retinoschisis Juvenile X-Linked 1 66
Retinoschisis, Juvenile, X-Linked 69
Retinoschisis, Degenerative 69
Degenerative Retinoschisis 25
Retinoschisis X-Linked 50
Xlrs1 66
Rs1 66

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
retinoschisis:
Inheritance x-linked dominant inheritance


GeneReviews:

23
Penetrance X-linked juvenile retinoschisis exhibits complete penetrance with variable expressivity. ...

Classifications:



External Ids:

OMIM 54 312700
Disease Ontology 12 DOID:0060763 DOID:8465
ICD10 33 Q14.1 H33.10
ICD9CM 35 361.10
MeSH 42 D041441
NCIt 47 C85046
Orphanet 56 ORPHA792
ICD10 via Orphanet 34 Q14.1
UMLS 69 C0152439

Summaries for Retinoschisis

NIH Rare Diseases : 50 juvenile retinoschisis is an eye condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. the condition affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. this affects the sharpness of vision. central vision is more commonly affected. vision often deteriorates early in life, but then usually becomes stable until late adulthood. a second decline in vision typically occurs in a man's fifties or sixties. sometimes severe complications occur, including separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). these can lead to blindness. juvenile retinoschisis is caused by mutations in the rs1 gene. it is inherited in an x-linked recessive pattern. low-vision aids can be helpful. surgery may be needed for some complications. last updated: 2/27/2016

MalaCards based summary : Retinoschisis, also known as x-linked juvenile retinoschisis, is related to bullous retinoschisis and retinoschisis of fovea, and has symptoms including abnormality of eye movement, cataract and abnormality of vision. An important gene associated with Retinoschisis is RS1 (Retinoschisin 1), and among its related pathways/superpathways is Articular Cartilage Extracellular Matrix Pathway. The drugs Dorzolamide and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and testes, and related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and nervous system

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 : 54 X-linked retinoschisis (XLRS) is a retinal dystrophy that leads to schisis (splitting) of the neural retina leading to... (312700) more...

UniProtKB/Swiss-Prot : 66 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 : 71 Retinoschisis is an eye disease characterized by the abnormal splitting of the retina\'s neurosensory... more...

GeneReviews: NBK1222

Related Diseases for Retinoschisis

Diseases in the Retinoschisis family:

Retinoschisis Autosomal Dominant

Diseases related to Retinoschisis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
id Related Disease Score Top Affiliating Genes
1 bullous retinoschisis 12.0
2 retinoschisis of fovea 11.9
3 retinoschisis autosomal dominant 11.8
4 flat retinoschisis 11.8
5 enhanced s-cone syndrome 11.1
6 goldmann-favre syndrome 11.1
7 cavitary optic disc anomalies 10.9
8 retinitis 10.6
9 retinal detachment 10.5
10 macular holes 10.3
11 vitreoretinochoroidopathy 10.2 BEST1 RS1
12 pilocytic astrocytoma of cerebellum 10.2 COL2A1 GFAP
13 blessig's cysts 10.2 BEST1 COL2A1
14 adult-onset still's disease 10.2 COL2A1 RS1
15 breast osteosarcoma 10.1 NDP RS1
16 congenital hypogammaglobulinemia 10.1 NDP RS1
17 neonatal abstinence syndrome 10.1 COL2A1 NDP
18 biemond syndrome ii 10.1 NDP RS1
19 astigmatism 10.0 NDP RS1
20 smed strudwick type 10.0 COL2A1 NDP RS1
21 adult liposarcoma 10.0 BEST1 NDP RS1
22 maxillary sinus cancer 10.0 MFRP RS1
23 athabaskan brainstem dysgenesis syndrome 10.0 BEST1 MFRP RS1
24 myopia 10.0
25 acquired gastric outlet stenosis 10.0 CST3 DCN
26 charcot-marie-tooth disease 10.0 CST3 GFAP
27 upper respiratory tract disease 10.0 GFAP RS1
28 multilocular clear cell renal cell carcinoma 10.0 MFRP RS1
29 anterograde amnesia 9.9 COL2A1 GFAP NDP RS1
30 neovascular glaucoma 9.8
31 choroiditis 9.8
32 norrie disease 9.8
33 coats disease 9.7
34 shaken baby syndrome 9.7
35 combined hamartoma of the retina and retinal pigment epithelium 9.7
36 neuropathy 9.7
37 pars planitis 9.7
38 uveitis 9.7
39 head injury 9.6
40 retinitis pigmentosa 9.6
41 melanoma 9.6
42 congenital stationary night blindness 9.6
43 fetal alcohol syndrome 9.6
44 cone dystrophy 9.6
45 persistent hyperplastic primary vitreous 9.6
46 retinal telangiectasia 9.6
47 thrombosis 9.6
48 stickler syndrome 9.6
49 retinal degeneration 9.6
50 amblyopia 9.6

Graphical network of the top 20 diseases related to Retinoschisis:



Diseases related to Retinoschisis

Symptoms & Phenotypes for Retinoschisis

Symptoms by clinical synopsis from OMIM:

312700

Clinical features from OMIM:

312700

Human phenotypes related to Retinoschisis:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of eye movement 56 32 Very frequent (99-80%) HP:0000496
2 cataract 56 32 Very frequent (99-80%) HP:0000518
3 abnormality of vision 56 32 Very frequent (99-80%) HP:0000504
4 abnormal electroretinogram 56 32 Very frequent (99-80%) HP:0000512
5 glaucoma 56 32 Very frequent (99-80%) HP:0000501
6 retinoschisis 56 32 Very frequent (99-80%) HP:0030502
7 abnormality of the eye 56 Very frequent (99-80%)
8 progressive visual loss 32 HP:0000529
9 retinal detachment 32 HP:0000541
10 hypermetropia 32 HP:0000540
11 chorioretinal atrophy 32 HP:0000533
12 retinal atrophy 32 HP:0001105
13 cystic retinal degeneration 32 HP:0007667
14 electronegative electroretinogram 32 HP:0007984

GenomeRNAi Phenotypes related to Retinoschisis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.02 COL2A1 CST3 DCN RGS11 RS1

MGI Mouse Phenotypes related to Retinoschisis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.76 COL2A1 CST3 GFAP MFRP NDP RGS11
2 pigmentation MP:0001186 9.26 BEST1 MFRP NDP RS1
3 vision/eye MP:0005391 9.23 BEST1 COL2A1 DCN GFAP MFRP NDP

Drugs & Therapeutics for Retinoschisis

Drugs for Retinoschisis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
2
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
3
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
4 Antihypertensive Agents Phase 4
5 Carbonic Anhydrase Inhibitors Phase 4
6 triamcinolone acetonide Phase 4
7 glucocorticoids Phase 4
8 Hormone Antagonists Phase 4
9 Anesthetics Phase 4
10 Triamcinolone diacetate Phase 4
11 Triamcinolone hexacetonide Phase 4
12 Hormones Phase 4
13 Peripheral Nervous System Agents Phase 4
14 Anesthetics, Local Phase 4
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
16 Immunosuppressive Agents Phase 4
17 Anti-Inflammatory Agents Phase 4
18 Central Nervous System Depressants Phase 4
19
Bevacizumab Approved, Investigational 216974-75-3
20
Brinzolamide Approved 138890-62-7 68844
21 Diminazene aceturate
22 Angiogenesis Inhibitors
23 Angiogenesis Modulating Agents

Interventional clinical trials:

(show all 18)
id Name Status NCT ID Phase
1 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4
2 Postoperative Pain Control Following Vitreoretinal Surgery Completed NCT01995045 Phase 4
3 Safety and Efficacy of rAAV-hRS1 in Patients With X-linked Retinoschisis (XLRS) Recruiting NCT02416622 Phase 1, Phase 2
4 Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis Recruiting NCT02317887 Phase 1, Phase 2
5 Macular Tractional Retinoschisis in Proliferative Diabetic Retinopathy Unknown status NCT01312207
6 Triple Therapy for Diffuse Diabetic Macular Edema Unknown status NCT01218750
7 Clinical Evaluation of Patients With X-linked Retinoschisis Completed NCT02331173
8 Optical Coherence Tomography Evaluation of Retinoschisis and Retinal Detachment Completed NCT02682797
9 Macular Retinoschisis and Detachment Associated With Glaucomatous Optic Neuropathy Completed NCT01862627
10 Macular Detachment Associated With Intrachoroidal Cavitation Completed NCT01959724
11 Ultrastructure Analysis of Excised Internal Limiting Membrane in Eyes of Highly Myopia With Myopic Traction Maculopathy Completed NCT02528058
12 Optical Coherence Tomography Imaging of the Posterior Segment in High Myopia. Completed NCT00347451
13 Vitrectomy for Optic Disc Pit Maculopathy Completed NCT01340703
14 Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis Recruiting NCT00055029
15 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
16 Effects of Macular Buckle Versus Vitrectomy on Macular Schisis and Macular Detachment in Highly Myopic Eyes Active, not recruiting NCT03023800
17 People s Expectations When Enrolling in a Phase I/II RS1 Ocular Gene Transfer Clinical Trial Enrolling by invitation NCT02317354
18 Pneumatic Retinopexy Versus Vitrectomy for Retinal Detachment in Patients With Extended Criteria Not yet recruiting NCT02871531

Search NIH Clinical Center for Retinoschisis

Cochrane evidence based reviews: retinoschisis

Genetic Tests for Retinoschisis

Genetic tests related to Retinoschisis:

id Genetic test Affiliating Genes
1 Juvenile Retinoschisis 29
2 X-Linked Juvenile Retinoschisis 24 RS1

Anatomical Context for Retinoschisis

MalaCards organs/tissues related to Retinoschisis:

39
Retina, Eye, Testes

Publications for Retinoschisis

Articles related to Retinoschisis:

(show top 50) (show all 597)
id Title Authors Year
1
UNUSUAL CASE OF STELLATE NONHEREDITARY IDIOPATHIC FOVEOMACULAR RETINOSCHISIS. ( 27711004 )
2017
2
Spectral Domain Optical Coherence Tomography Features of Traumatic Macular Retinoschisis. ( 28299017 )
2017
3
Peripheral fundus findings in X-linked retinoschisis. ( 28348004 )
2017
4
Juvenile X-linked retinoschisis presenting as juxtapapillary retinal fold mimicking combined hamartoma of the retina and retinal pigment epithelium. ( 28147237 )
2017
5
X-Linked Retinoschisis in Juveniles: Follow-Up by Optical Coherence Tomography. ( 28286756 )
2017
6
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins. ( 28235399 )
2017
7
STELLATE NONHEREDITARY IDIOPATHIC FOVEOMACULAR RETINOSCHISIS ACCOMPANIED BY CONTRALATERAL PERIPHERAL RETINOSCHISIS. ( 28098710 )
2017
8
Rearing Light Intensity Affects Inner Retinal Pathology in a Mouse Model of X-Linked Retinoschisis but Does Not Alter Gene Therapy Outcome. ( 28297725 )
2017
9
SURGICAL MANAGEMENT OF TRACTIONAL RETINOSCHISIS ASSOCIATED WITH VITREOUS HEMORRHAGE IN RETINOPATHY OF PREMATURITY. ( 28092313 )
2017
10
Ultra Wide-Field Laser Scanning Imaging of an Unusually Bullous Retinoschisis: Retinoschisis vs Detachment. ( 28418564 )
2017
11
Sustained Resolution of Macular Retinoschisis After Trabeculectomy in a Patient With Progressive Glaucoma. ( 28221332 )
2017
12
Spontaneous improvement of myopic macular retinoschisis: case report and review of literature. ( 28237160 )
2017
13
Wide-Field En Face Swept-Source Optical Coherence Tomography Features of Extrafoveal Retinoschisis in Highly Myopic Eyes. ( 28192795 )
2017
14
COMPLICATED CONGENITAL RETINOSCHISIS. ( 27680778 )
2017
15
Transient Peripapillary Retinoschisis in Glaucomatous Eyes. ( 28168045 )
2017
16
Retinal Detachment in a Combined Case of Stickler Syndrome and X-Linked Retinoschisis. ( 28060400 )
2017
17
Monitoring retinoschisis and non-acute retinal detachment by optical coherence tomography: morphologic aspects and clinical impact. ( 28321986 )
2017
18
Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients. ( 28272453 )
2017
19
Peripapillary retinoschisis and serous retinal elevation secondary to steroid-induced glaucoma. ( 27521684 )
2016
20
USE OF A CARBONIC ANHYDRASE INHIBITOR IN X-LINKED RETINOSCHISIS: Effect on Cystic-Appearing Macular Lesions and Visual Acuity. ( 27828908 )
2016
21
Retinoschisis in Pars Planitis. ( 26902143 )
2016
22
CLINICAL CHARACTERISTICS OF IDIOPATHIC FOVEOMACULAR RETINOSCHISIS. ( 26756808 )
2016
23
Severe Retinal Hemorrhages with Retinoschisis in Infants are Not Pathognomonic for Abusive Head Trauma. ( 27982430 )
2016
24
Lamellar macular hole in X linked retinoschisis. ( 27170611 )
2016
25
The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen-activated protein kinase signalling and apoptosis in the retina. ( 27995734 )
2016
26
SD-OCT AND MICROPERIMETRIC CORRELATED CHANGES IN PROGRESSIVE X-LINKED RETINOSCHISIS AFTER VITRECTOMY: A CASE REPORT. ( 27798534 )
2016
27
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
28
Myopic Macular Retinoschisis in Teenagers: Clinical Characteristics and Spectral Domain Optical Coherence Tomography Findings. ( 27294332 )
2016
29
Juvenile X-Linked Retinoschisis: A Comparison of Imaging Modalities and Review of Angiographic Findings. ( 27164547 )
2016
30
VISUAL ACUITY OUTCOMES OF RANIBIZUMAB TREATMENT IN PATHOLOGIC MYOPIC EYES WITH MACULAR RETINOSCHISIS AND CHOROIDAL NEOVASCULARIZATION. ( 27533774 )
2016
31
Unilateral giant peripapillary drusen and retinal drusenoid deposits in a case of X-linked retinoschisis. ( 26907824 )
2016
32
Corrigendum: X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family. ( 26960251 )
2016
33
The efficacy and safety of posterior scleral reinforcement using genipin cross-linked sclera for macular detachment and retinoschisis in highly myopic eyes. ( 26917677 )
2016
34
Dramatic regression of macular and peripheral retinoschisis with dorzolamide 2 % in X-linked retinoschisis: a case report. ( 27246168 )
2016
35
SURGICAL TREATMENT OF A MACULAR HOLE IN X-LINKED RETINOSCHISIS. ( 27203560 )
2016
36
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function. ( 27798099 )
2016
37
Cog-Wheel Octameric Structure of RS1, the Discoidin Domain Containing Retinal Protein Associated with X-Linked Retinoschisis. ( 26812435 )
2016
38
Alterations of the Lamina Cribrosa Are Associated with Peripapillary Retinoschisis in Glaucoma and Pachychoroid Spectrum Disease. ( 27506483 )
2016
39
Comments on temporary resolution of foveal schisis following vitrectomy with silicon oil tamponade in X-linked retinoschisis with retinal detachment. ( 27146945 )
2016
40
Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis. ( 27258436 )
2016
41
WIDE-FIELD INFRARED IMAGING: A Descriptive Review of Characteristics of Retinoschisis, Retinal Detachment, and Schisis Detachments. ( 26807632 )
2016
42
Ocular and systemic safety of a recombinant AAV8 vector for X-linked retinoschisis gene therapy: GLP studies in rabbits and Rs1-KO mice. ( 27626041 )
2016
43
Carbonic Anhydrase Inhibitors for the Treatment of Cystic Macular Lesions in Children With X-Linked Juvenile Retinoschisis. ( 27699410 )
2016
44
Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family. ( 27932860 )
2016
45
X-Linked retinoschisis associated to a novel intragenic microdeletion: case report. ( 26791414 )
2016
46
Different foveal schisis patterns in each retinal layer in eyes with hereditary juvenile retinoschisis evaluated by en-face optical coherence tomography. ( 27853955 )
2016
47
En Face Optical Coherence Tomography of Bilateral Myopic Macular Retinoschisis. ( 26900742 )
2016
48
Retinoschisis and neurosensory detachment in advanced focal glaucoma. ( 27887794 )
2016
49
Phenotypic characterization of X-linked retinoschisis: Clinical, electroretinography, and optical coherence tomography variables. ( 27609164 )
2016
50
Abnormal 8-Hz flicker electroretinograms in carriers of X-linked retinoschisis. ( 27369766 )
2016

Variations for Retinoschisis

UniProtKB/Swiss-Prot genetic disease variations for Retinoschisis:

66 (show top 50) (show all 64)
id 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
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:

6 (show all 19)
id 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.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs61752067 GRCh37 Chromosome X, 18665333: 18665333
3 RS1 NM_000330.3(RS1): c.214G> A (p.Glu72Lys) single nucleotide variant Pathogenic rs104894928 GRCh37 Chromosome X, 18665423: 18665423
4 RS1 NM_000330.3(RS1): c.216G> C (p.Glu72Asp) single nucleotide variant Pathogenic rs104894932 GRCh37 Chromosome X, 18665421: 18665421
5 RS1 NM_000330.3(RS1): c.221G> T (p.Gly74Val) single nucleotide variant Pathogenic rs104894933 GRCh37 Chromosome X, 18665416: 18665416
6 RS1 NM_000330.3(RS1): c.325G> C (p.Gly109Arg) single nucleotide variant Pathogenic rs104894934 GRCh37 Chromosome X, 18665312: 18665312
7 RS1 NM_000330.3(RS1): c.38T> C (p.Leu13Pro) single nucleotide variant Pathogenic rs104894935 GRCh37 Chromosome X, 18690151: 18690151
8 RS1 NM_000330.3(RS1): c.667T> C (p.Cys223Arg) single nucleotide variant Pathogenic rs104894929 GRCh37 Chromosome X, 18660132: 18660132
9 RS1 RS1, 4-BP INS insertion Pathogenic
10 RS1 NM_000330.3(RS1): c.608C> T (p.Pro203Leu) single nucleotide variant Pathogenic rs104894930 GRCh37 Chromosome X, 18660191: 18660191
11 RS1 NM_000330.3(RS1): c.305G> A (p.Arg102Gln) single nucleotide variant Pathogenic rs61752068 GRCh37 Chromosome X, 18665332: 18665332
12 RS1 NM_000330.3(RS1): c.266A> G (p.Tyr89Cys) single nucleotide variant Likely pathogenic rs61752060 GRCh37 Chromosome X, 18665371: 18665371
13 RS1 NM_000330.3(RS1): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic/Likely pathogenic rs61752159 GRCh37 Chromosome X, 18662650: 18662650
14 RS1 NM_000330.3(RS1): c.522+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs281865348 GRCh37 Chromosome X, 18662549: 18662549
15 RS1 NM_000330.3(RS1): c.574C> T (p.Pro192Ser) single nucleotide variant Likely pathogenic rs61753174 GRCh37 Chromosome X, 18660225: 18660225
16 RS1 NM_000330.3(RS1): c.590G> A (p.Arg197His) single nucleotide variant Likely pathogenic rs281865355 GRCh37 Chromosome X, 18660209: 18660209
17 RS1 NM_000330.3(RS1): c.625C> T (p.Arg209Cys) single nucleotide variant Likely pathogenic rs281865361 GRCh37 Chromosome X, 18660174: 18660174
18 RS1 NM_000330.3(RS1): c.673T> C (p.Ter225Arg) single nucleotide variant Likely pathogenic rs1057517433 GRCh37 Chromosome X, 18660126: 18660126
19 RS1 NM_000330.3(RS1): c.498C> A (p.Tyr166Ter) single nucleotide variant Likely pathogenic rs1057516744 GRCh38 Chromosome X, 18644454: 18644454

Expression for Retinoschisis

Search GEO for disease gene expression data for Retinoschisis.

Pathways for Retinoschisis

Pathways related to Retinoschisis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.2 COL2A1 DCN

GO Terms for Retinoschisis

Cellular components related to Retinoschisis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.13 COL2A1 DCN NDP
2 extracellular space GO:0005615 9.02 COL2A1 CST3 DCN NDP RS1

Biological processes related to Retinoschisis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.02 BEST1 COL2A1 MFRP NDP RS1
2 placenta development GO:0001890 8.96 DCN NDP

Molecular functions related to Retinoschisis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.26 BEST1 COL2A1 CST3 GFAP
2 beta-amyloid binding GO:0001540 8.62 ATP1A3 CST3

Sources for Retinoschisis

3 CDC
7 CNVD
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