MCID: RTN025
MIFTS: 46

Retinoschisis malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinoschisis

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Aliases & Descriptions for Retinoschisis:

Name: Retinoschisis 49 10 11 12 36 65
Retinoschisis 1, X-Linked, Juvenile 65
Retinoschisis Juvenile X-Linked 1 67
 
Xlrs1 67
Rs1 67

Characteristics:

HPO:

61
retinoschisis:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 312700
Disease Ontology10 DOID:8465
ICD1027 H33.10
ICD9CM29 361.10
MeSH36 D041441
NCIt42 C85046
UMLS65 C0152439, C3714753

Summaries for Retinoschisis

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UniProtKB/Swiss-Prot:67 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.

MalaCards based summary: Retinoschisis, also known as retinoschisis 1, x-linked, juvenile, is related to acne and x-linked juvenile retinoschisis, and has symptoms including chorioretinal coloboma, cataract and abnormal electroretinogram. An important gene associated with Retinoschisis is RS1 (Retinoschisin 1), and among its related pathways is Protein digestion and absorption. Affiliated tissues include retina, eye and liver, and related mouse phenotypes are pigmentation and vision/eye.

OMIM:49 X-linked retinoschisis (XLRS) is a retinal dystrophy that leads to schisis (splitting) of the neural retina leading to... (312700) more...

Wikipedia:68 Retinoschisis is an eye disease characterized by the abnormal splitting of the retina\'s neurosensory... more...

Related Diseases for Retinoschisis

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Graphical network of the top 20 diseases related to Retinoschisis:



Diseases related to retinoschisis

Symptoms for Retinoschisis

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Symptoms by clinical synopsis from OMIM:

312700

Clinical features from OMIM:

312700

HPO human phenotypes related to Retinoschisis:

(show all 12)
id Description Frequency HPO Source Accession
1 chorioretinal coloboma hallmark (90%) HP:0000567
2 cataract hallmark (90%) HP:0000518
3 abnormal electroretinogram hallmark (90%) HP:0000512
4 glaucoma hallmark (90%) HP:0000501
5 abnormality of eye movement hallmark (90%) HP:0000496
6 retinoschisis HP:0030502
7 reduced amplitude of dark-adapted bright flash electroretinogram b-wave HP:0007984
8 cystic retinal degeneration HP:0007667
9 retinal atrophy HP:0001105
10 retinal detachment HP:0000541
11 chorioretinal atrophy HP:0000533
12 progressive visual loss HP:0000529

Drugs & Therapeutics for Retinoschisis

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

(show all 24)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bupivacaineapproved, investigationalPhase 49642180-92-92474
Synonyms:
( inverted exclamation markA)-bupivacaine
(+-)-Bupivacaine
(1)-1-Butyl-N-(2,6-dimethylphenyl)piperidine-2-carboxamide
(RS)-bupivacaine
1-Butyl-2',6'-pipecoloxylidide
1-Butyl-N-(2,6-dimethylphenyl)-2-piperidinecarboxamide
1-butyl-N-(2,6-dimethylphenyl)piperidine-2-carboxamide
15233-43-9
2180-92-9
38396-39-3
AB00053674
AC-2096
AC1L1DRE
AC1Q5LX4
AH 250
AKOS001637202
AR-1A0242
Anekain
BPBio1_000298
BRD-A01636364-003-05-2
BSPBio_000270
BSPBio_002607
Bio-0886
Bloqueina
Bucaine
Bucaine (TN)
Bupivacaina
Bupivacaina [INN-Spanish]
Bupivacaine
Bupivacaine (INN)
Bupivacaine Carbonate
Bupivacaine HCL
Bupivacaine HCL KIT
Bupivacaine Hydrochloride
Bupivacaine Monohydrochloride, Monohydrate
Bupivacaine [INN:BAN]
Bupivacainum
Bupivacainum [INN-Latin]
Bupivan
C07529
C18H28N2O
CBupivacaine
CHEBI:3215
CHEMBL1098
CID2474
Carbostesin
D07552
DB00297
DL-Bupivacaine
DUR-843
DepoBupivacaine
 
DivK1c_000758
EINECS 218-553-3
EINECS 253-911-2
Exparel
HMS2090F12
IDI1_000758
KBio1_000758
KBio2_002004
KBio2_004572
KBio2_007140
KBio3_001827
KBioGR_001516
KBioSS_002004
KST-1A4609
L000695
LAC-43
LS-109841
LS-2222
MLS001361336
Marcaina
Marcaine
Marcaine HCL
Marcaine Spinal
MolPort-004-955-820
NCGC00178579-01
NCGC00178579-02
NINDS_000758
NSC119660
Prestwick0_000305
Prestwick1_000305
Prestwick2_000305
Prestwick3_000305
Racemic bupivacaine
SMR000058218
SPBio_001558
SPBio_002489
Sensorcaine
Sensorcaine-MPF
Sensorcaine-MPF Spinal
Spectrum2_001589
Spectrum3_000974
Spectrum4_001098
Spectrum5_001483
Spectrum_001524
Transdur-Bupivacaine
UNII-Y8335394RO
Vivacaine
Win 11318
Win 11318 HCl
bupivacaine
cBupivacaine
dl-1-Butyl-2',6'-pipecoloxylidide
2
TriamcinoloneapprovedPhase 4448124-94-731307
Synonyms:
(8S,9R,10S,11S,13S,14S,16R,17S)-9-fluoro-11,16,17-trihydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,11,12,14,15,16-octahydrocyclopenta[a]phenanthren-3-one
11-beta,16-alpha,17-alpha,21-Tetrahydroxy-9-alpha-fluoro-1,4-pregnadiene-3,20-dione
11.Beta.,16.alpha.,17.alpha., 21-Tetrahydroxy-9.alpha.-fluoro-1,4-pregnadiene-3,20-dione
11.beta.,16.alpha.,17.alpha.,21-Tetrahydroxy-9.alpha.-fluoro-1,4-pregnadiene-3,20-dione
11beta,16alpha,17alpha,21-Tetrahydroxy-9alpha-fluoro-1,4-pregnadiene-3,20-dione
124-94-7
4-08-00-03629 (Beilstein Handbook Reference)
83474-03-7
9-Fluoro-11,16,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9-Fluoro-11beta,16alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9-alpha-Fluoro-11-beta,16-alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9-alpha-Fluoro-16-alpha-hydroxyprednisolone
9.Alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahy
9.Alpha.-Fluoro-11.beta.,16.alpha.,17.alpha., 21-tetrahydroxypregna-1,4-diene-3,20-d
9.alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahydroxy-1,4-pregnadiene-3,20-dione
9.alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9.alpha.-Fluoro-11.beta.,16.alpha.,17.alpha.,21-tetrahydroxypregna-1,4-diene-3,20-dione
9.alpha.-Fluoro-16.alpha.-hydroxyprednisolone
9alpha-Fluoro-11beta,16alpha,17,21-tetrahydroxy-1,4-pregnadiene-3,20-dione
9alpha-Fluoro-11beta,16alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9alpha-Fluoro-11beta,16alpha,17alpha,21-tetrahydroxypregna-1,4-diene-3,20-dione
9alpha-Fluoro-16alpha-hydroxyprednisolone
9╬▒-fluoro-16╬▒-hydroxyprednisolone
AC-2072
AC1L1LDH
AC1Q5HJC
Adcortyl
Allernaze
Aristocort
Aristocort A
Aristocort Tablets
Aristogel
Aristospan
Azmacort
BPBio1_000154
BRD-K77554836-001-03-3
BRN 2341955
BSPBio_000140
Bio-0662
C21H27FO6
CHEMBL1451
CID31307
CL 19823
Celeste
Cinolone
Cinolone-T
D00385
D014221
DB00620
Delphicort
EINECS 204-718-7
EU-0101179
Fluoxiprednisolone
Fluoxyprednisolone
Flutex
Fougera
HMS1568G22
HMS2090D12
HSDB 3194
Kenacort
Kenacort (TN)
Kenacort-A
Kenacort-AG
Kenacort-Ag
Kenalog
Kenalog in Orabase
Kenalog-10
Kenalog-40
Kenalog-H
LS-698
Ledercort
Lopac0_001179
MLS000028542
MLS001066543
 
MLS002695935
MolPort-002-528-981
Mycolog
NCGC00021580-03
NCGC00021580-04
NCGC00021580-05
NCGC00021580-06
NCGC00021580-07
NCI60_000750
NSC 13397
NSC13397
Nasacort
Nasacort Aq
Nasacort Hfa
Omcilon
Omicilon
Oracort
Oralone
Orion
Polcortolon
Pregna-1,4-diene-3,20-dio
Pregna-1,4-diene-3,20-dione, 9-fluoro-11,16,17,21-tetrahydroxy-, (11beta,16alpha)
Pregna-1,4-diene-3,20-dione, 9-fluoro-11beta,16alpha,17,21-tetrahydroxy- (8CI)
Prestwick0_000120
Prestwick1_000120
Prestwick2_000120
Prestwick3_000120
Prestwick_438
Rodinolone
S1933_Selleck
SK-Triamcinolone
SMP1_000300
SMR000058333
SPBio_002079
Sk-Triamcinolone
T6376_SIGMA
TRIAMCINOLONE (SEE ALSO TRIAMCINOLONE ACETONIDE (76-25-5) AND TRIAMCINOLONE DIACETATE (67-78-7))
Tiamcinolonum
Tiamcinolonum [INN-Latin]
Tri-Nasal
Triacet
Triacort
Triam-Tablinen
Triamcet
Triamcinalone
Triamcinlon
Triamcinolon
Triamcinolona
Triamcinolona [INN-Spanish]
Triamcinolone (JP15/USP/INN)
Triamcinolone Acetonide
Triamcinolone [USAN:INN:BAN:JAN]
Triamcinolone acetonide
Triamcinolone diacetate
Triamcinolone hexacetonide
Triamcinolonum
Triamcinolonum [INN]
Trianex
Triatex
Tricortale
Triderm
Triesence
Trilone
Tristoject
Trymex
UNII-1ZK20VI6TY
Vetalog
Volon
Volon A
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ GQ
ZINC03882036
droxypregna-1,4-diene-3,20-dione
ione
nchembio.2007.53-comp7
triamcinolone
3
DorzolamideapprovedPhase 464120279-96-13154, 5284549
Synonyms:
(4S,6S)-4-(ethylamino)-6-methyl-5,6-dihydro-4H-thieno[2,3-b]thiopyran-2-sulfonamide 7,7-dioxide
(4S,6S)-4-(ethylamino)-6-methyl-7,7-dioxo-5,6-dihydro-4H-thieno[2,3-b]thiopyran-2-sulfonamide
(4S,6S)-4-Ethylamino-6-methyl-7,7-dioxo-4,5,6,7-tetrahydro-7lambda*6*-thieno[2,3-b]thiopyran-2-sulfonic acid amide
(4S,trans)-4-(Ethylamino)-6-methyl-5,6-dihydro-4H-thieno[2,3-b]thiopyran-2-sulfonamide 7,7-dioxide
(4S,trans)-4-(ethylamino)-6-methyl-5,6-dihydro-4H-thieno[2,3-b]thiopyran-2-sulfonamide 7,7-dioxide
(4S-TRANS)-4-(ETHYLAMINO)-5,6-DIHYDRO-6-METHYL-4H-THIENO(2,3-B)THIOPYRAN-2-SULFONAMIDE-7,7-DIOXIDE
(4S-trans)-4-(ETHYLAMINO)-5,6-dihydro-6-methyl-4H-thieno(2,3-b)thiopyran-2-sulfonamide-7,7-dioxide
120279-96-1
1cil
4-Ethylamino-6-methyl-7,7-dioxo-4,5,6,7-tetrahydro-7lambda*6*-thieno[2,3-b]thiopyran-2-sulfonic acid amide
4-Ethylamino-6-methyl-7,7-dioxo-4,5,6,7-tetrahydro-7lambda6-thieno[2,3-b]thiopyran-2-sulfonic acid amide
4S,6S-Dorzolamide
AB00514687
AC1NR4NP
BIDD:GT0306
BPBio1_001377
BRD-K48617017-003-03-1
BSPBio_001252
C06969
CHEBI:4702
 
CHEMBL218490
CID5284549
D07871
DB04507
Dorzolamid
Dorzolamida
Dorzolamide
Dorzolamide (DZA)
Dorzolamide (INN)
Dorzolamide Hydrochloride
Dorzolamidum
HMS2089O06
MolPort-005-941-739
Prestwick0_001116
Prestwick1_001116
Prestwick2_001116
Prestwick3_001116
SPBio_003116
STK645522
Trusopt
Trusopt (TN)
dorzolamide
4AnestheticsPhase 47385
5Immunosuppressive AgentsPhase 410422
6Triamcinolone diacetatePhase 4448
7Triamcinolone hexacetonidePhase 4448
8Immunologic FactorsPhase 418483
9triamcinolone acetonidePhase 4448
10Peripheral Nervous System AgentsPhase 418510
11Anti-Inflammatory AgentsPhase 48478
12Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 49988
13Central Nervous System DepressantsPhase 410016
14glucocorticoidsPhase 43896
15HormonesPhase 411748
16Hormone AntagonistsPhase 410002
17Anesthetics, LocalPhase 42347
18Antihypertensive AgentsPhase 43618
19Carbonic Anhydrase InhibitorsPhase 4153
20
Bevacizumabapproved, investigational1875216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
21
Brinzolamideapproved59138890-62-768844
Synonyms:
(+)-4-ETHYLAMINO-3,4-DIHYDRO-2-(METHOXY)PROPYL-2H-THIENO[3,2-E]-1,2-THIAZINE-6-SULFONAMIDE-1,1-DIOXIDE
(4R)-4-(ethylamino)-2-(3-methoxypropyl)-1,1-dioxo-3,4-dihydrothieno[3,2-e]thiazine-6-sulfonamide
(4R)-4-(ethylamino)-2-(3-methoxypropyl)-3,4-dihydro-2H-thieno[3,2-e][1,2]thiazine-6-sulfonamide 1,1-dioxide
(R)-4-(Ethylamino)-3,4-dihydro-2-(3-methoxypropyl)-2H-thieno(3,2-e)-1,2-thiazine-6-sulfonamide 1,1-dioxide
(R)-4-(ethylamino)-3,4-dihydro-2-(3-methoxypropyl)-2H-thieno(3,2-e)-1,2-thiazine-6-sulfonamide
138890-62-7
2H-Thieno(3,2-e)-1,2-thiazine-6-sulfonamide,4-(ethylamino)-3,4-dihydro-2-(3-methoxypropyl)-,1,1-dioxide,R
3znc
AB00513824
AC-5277
AC1L2AKA
AC1Q6UVB
AKOS005145708
AL 4862
AL-4862
AL04862
Alcon brand of brinzolamide
Allphar brand of brinzolamide
Azopt
Azopt (TN)
BIDD:GT0039
BPBio1_000539
BRD-K74913225-001-03-3
BSPBio_000489
BZ1
 
Birnzolamide
Brinzolamide
Brinzolamide (BRZ)
Brinzolamide (JAN/USP/INN)
Brinzolamide [USAN]
C07760
C111827
C12H21N3O5S3
CHEBI:3176
CHEMBL220491
CID68844
D00652
DB01194
FT-0082471
HMS1569I11
I09-0605
LS-173036
MLS002153787
MolPort-005-940-291
Prestwick0_000365
Prestwick1_000365
Prestwick2_000365
Prestwick3_000365
SMR001233169
SPBio_002410
UNII-9451Z89515
22Diminazene aceturate10
23Angiogenesis Modulating Agents3611
24Angiogenesis Inhibitors3688

Interventional clinical trials:

(show all 16)
idNameStatusNCT IDPhase
1Postoperative Pain Control Following Vitreoretinal SurgeryCompletedNCT01995045Phase 4
2Treatment of Cystoid Macular Edema in Patients With Retinal DegenerationRecruitingNCT00716586Phase 4
3Safety and Efficacy of rAAV-hRS1 in Patients With X-linked Retinoschisis (XLRS)RecruitingNCT02416622Phase 1, Phase 2
4Study of RS1 Ocular Gene Transfer for X-linked RetinoschisisRecruitingNCT02317887Phase 1, Phase 2
5Macular Retinoschisis and Detachment Associated With Glaucomatous Optic NeuropathyCompletedNCT01862627
6Macular Detachment Associated With Intrachoroidal CavitationCompletedNCT01959724
7Vitrectomy for Optic Disc Pit MaculopathyCompletedNCT01340703
8Ultrastructure Analysis of Excised Internal Limiting Membrane in Eyes of Highly Myopia With Myopic Traction MaculopathyCompletedNCT02528058
9Optical Coherence Tomography Imaging of the Posterior Segment in High Myopia.CompletedNCT00347451
10Clinical and Genetic Studies of X-Linked Juvenile RetinoschisisRecruitingNCT00055029
11OCT-Evaluation of Retinoschisis and Retinal DetachmentRecruitingNCT02682797
12Macular Tractional Retinoschisis in Proliferative Diabetic RetinopathyRecruitingNCT01312207
13Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
14Triple Therapy for Diffuse Diabetic Macular EdemaRecruitingNCT01218750
15Clinical Evaluation of Patients With X-linked RetinoschisisActive, not recruitingNCT02331173
16People s Expectations When Enrolling in a Phase I/II RS1 Ocular Gene Transfer Clinical TrialEnrolling by invitationNCT02317354

Search NIH Clinical Center for Retinoschisis


Cochrane evidence based reviews: retinoschisis

Genetic Tests for Retinoschisis

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Anatomical Context for Retinoschisis

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MalaCards organs/tissues related to Retinoschisis:

33
Retina, Eye, Liver, Endothelial, Brain, Monocytes, Lung

Animal Models for Retinoschisis or affiliated genes

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MGI Mouse Phenotypes related to Retinoschisis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9BEST1, NDP, RS1
2MP:00053917.7BEST1, CNGB3, COL2A1, NDP, RS1
3MP:00036316.8ATP1A3, CNGB3, COL2A1, CST3, NDP, RS1

Publications for Retinoschisis

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Articles related to Retinoschisis:

(show top 50)    (show all 535)
idTitleAuthorsYear
1
The effects of swallowing disorders, dysgeusia, oral mucositis and xerostomia on nutritional status, oral intake and weight loss in head and neck cancer patients: A systematic review. (27010487)
2016
2
Testing for aleutian mink disease virus in the river otter (Lontra canadensis) in sympatry with infected American mink (Neovison vison). (24807350)
2014
3
Intramuscular hemangioma with phleboliths of the tongue. (25565734)
2014
4
N-Myristoylation is essential for protein phosphatases PPM1A and PPM1B to dephosphorylate their physiological substrates in cells. (23088624)
2013
5
Acinar cell carcinoma presenting as a duodenal mass: review of the literature and a case report. (23550393)
2013
6
Whole-transcriptome profiling of thyroid nodules identifies expression-based signatures for accurate thyroid cancer diagnosis. (23928671)
2013
7
Alveolar rhabdomyosarcoma of the tunica vaginalis presenting as a tender hydrocele. (24099115)
2013
8
Systemic mastocytosis: disease overview, pathogenesis, and treatment. (23009941)
2012
9
Silent sinus syndrome. Clinical case. (24269399)
2012
10
Validation of reverse sequence screening for syphilis. (22259212)
2012
11
Design and performance of a multisensor heart failure monitoring algorithm: results from the multisensor monitoring in congestive heart failure (MUSIC) study. (22464769)
2012
12
Jobs by 21 partnership project: impact of cross-system collaboration on employment outcomes of young adults with developmental disabilities. (21721980)
2011
13
Functional excitatory GABAA receptors precede ionotropic glutamate receptors in radial glia-like neural stem cells. (19931619)
2010
14
Severe vaginal chronic graft-versus-host disease (GVHD): two cases with late onset and literature review. (21319523)
2010
15
Pregnancy outcomes in women with gestational diabetes treated with metformin or insulin: a case-control study. (19709150)
2009
16
Wnt signaling: a win for bone. (18364235)
2008
17
Cell signaling pathways and iron chelation in the neurorestorative activity of green tea polyphenols: special reference to epigallocatechin gallate (EGCG). (18953110)
2008
18
Retinol-binding protein 4 is associated with insulin resistance, but appears unsuited for metabolic screening in women with polycystic ovary syndrome. (18362299)
2008
19
The outcome of treatment of early latent syphilis and syphilis with undetermined duration in HIV-infected and HIV-uninfected patients. (18073011)
2007
20
Suggested functions for prolyl oligopeptidase: a puzzling paradox. (17034776)
2007
21
Peginterferon alfa-2b plus ribavirin for the treatment of hepatitis C recurrence following combined liver and kidney transplantation. (18290566)
2007
22
Species differences in hydrolase activities toward OT-7100 responsible for different bioavailability in rats, dogs, monkeys and humans. (16684710)
2006
23
Modern diagnosis and treatment of primary eosinophilia. (15995325)
2005
24
Orbital lymphangioma. (15234158)
2004
25
Non-coplanar 2,2',3,5',6-pentachlorobiphenyl (PCB 95) amplifies ionotropic glutamate receptor signaling in embryonic cerebellar granule neurons by a mechanism involving ryanodine receptors. (14600284)
2004
26
Synthetic peptide immunocortin stimulates the production of 11-oxycorticosteroides by rat adrenal cortex through ACTH receptors. (15093703)
2004
27
Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. (12893758)
2003
28
Progestin-induced apoptosis in the Macaque ovarian epithelium: differential regulation of transforming growth factor-beta. (11773282)
2002
29
Targeted ablation of NrCAM or ankyrin-B results in disorganized lens fibers leading to cataract formation. (11449000)
2001
30
Vascular protection: current possibilities and future perspectives. (11715356)
2001
31
Increased permeability of the blood-aqueous barrier after panretinal photocoagulation for proliferative diabetic retinopathy. (11453865)
2001
32
The synaptic vesicle protein SV2 is complexed with an alpha5-containing laminin on the nerve terminal surface. (10617638)
2000
33
Prevalence and correlates of antibody to chlamydial heat shock protein in women attending sexually transmitted disease clinics and women with confirmed pelvic inflammatory disease. (9180186)
1997
34
Differential regulation of interleukin-8 and intercellular adhesion molecule-1 by H2O2 and tumor necrosis factor-alpha in endothelial and epithelial cells. (9407069)
1997
35
AUF1 binding affinity to A+U-rich elements correlates with rapid mRNA degradation. (8647811)
1996
36
Extraskeletal mesenchymal chondrosarcoma of the labium majus. (8774664)
1996
37
Topography of the NADPH-diaphorase system in the chameleon brain. (8776509)
1996
38
Activity of RNA polymerase I transcription factor UBF blocked by Rb gene product. (7877691)
1995
39
Hairy cell leukemia without splenomegaly nor myelofibrosis in a patient with gastric adenocarcinoma: early phase of the disease or a variant? (7567177)
1995
40
Human cytochrome P450 mono-oxygenase system is suppressed by propofol. (7772432)
1995
41
Glycopeptide-albumin derivative: it preparation and histochemical ligand properties. (1723727)
1991
42
Ovarian adenocarcinomas express fms-complementary transcripts and fms antigen, often with coexpression of CSF-1. (1695482)
1990
43
Molecular cloning and amino acid sequence of human plakoglobin, the common junctional plaque protein. (2726765)
1989
44
Solar retinopathy following religious rituals. (3228548)
1988
45
Common bile duct pressure in patients with common bile duct stones with or without acute suppurative cholangitis. (3369934)
1988
46
Localized hemosiderosis as a sequela of acne. (152613)
1978
47
Herpes zoster ophthalmicus with contralateral hemiplegia. (303089)
1977
48
Gonadoblastoma and dysgerminoma with ataxia-telangiectasia. (990441)
1976
49
Serology in syphilis and yaws. (13307428)
1955
50
Electronmicrography of treponemas from cases of yaws, pinta, and the so-called Cuban form of pinta. (14857252)
1951

Variations for Retinoschisis

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UniProtKB/Swiss-Prot genetic disease variations for Retinoschisis:

67 (show all 64)
id Symbol AA change Variation ID SNP ID
1RS1p.Glu72AspVAR_008180
2RS1p.Glu72LysVAR_008181
3RS1p.Gly74ValVAR_008182
4RS1p.Trp96ArgVAR_008183
5RS1p.Arg102TrpVAR_008184
6RS1p.Gly109ArgVAR_008185
7RS1p.Leu12HisVAR_008209
8RS1p.Leu13ProVAR_008210
9RS1p.Cys59SerVAR_008211
10RS1p.Tyr65CysVAR_008212
11RS1p.Gly70AlaVAR_008213
12RS1p.Gly70SerVAR_008214
13RS1p.Tyr89CysVAR_008215
14RS1p.Ala98GluVAR_008216
15RS1p.Arg102GlnVAR_008217
16RS1p.Leu103ArgVAR_008218
17RS1p.Phe108CysVAR_008219
18RS1p.Gly109GluVAR_008220
19RS1p.Gly109TrpVAR_008221
20RS1p.Cys110TyrVAR_008222
21RS1p.Trp112CysVAR_008223
22RS1p.Leu113PheVAR_008224
23RS1p.Leu127ProVAR_008225
24RS1p.Gly135ValVAR_008226
25RS1p.Ile136ThrVAR_008227
26RS1p.Thr138AlaVAR_008228
27RS1p.Gly140GluVAR_008229
28RS1p.Gly140ArgVAR_008230
29RS1p.Arg141CysVAR_008231
30RS1p.Arg141GlyVAR_008232
31RS1p.Arg141HisVAR_008233
32RS1p.Cys142TrpVAR_008234
33RS1p.Asp143ValVAR_008235
34RS1p.Glu146AspVAR_008236
35RS1p.Glu146LysVAR_008237
36RS1p.Tyr155CysVAR_008238
37RS1p.Trp163CysVAR_008240
38RS1p.Gly178AspVAR_008241
39RS1p.Arg182CysVAR_008242
40RS1p.Pro192ArgVAR_008243
41RS1p.Pro192SerVAR_008244
42RS1p.Pro193LeuVAR_008245
43RS1p.Pro193SerVAR_008246
44RS1p.Arg197CysVAR_008247
45RS1p.Arg197HisVAR_008248
46RS1p.Ile199ThrVAR_008249
47RS1p.Arg200CysVAR_008251
48RS1p.Arg200HisVAR_008252
49RS1p.Pro203LeuVAR_008253
50RS1p.His207GlnVAR_008254
51RS1p.Arg209HisVAR_008255
52RS1p.Arg213TrpVAR_008256
53RS1p.Glu215LysVAR_008257
54RS1p.Glu215GlnVAR_008258
55RS1p.Leu216ProVAR_008259
56RS1p.Cys219GlyVAR_008260
57RS1p.Cys219ArgVAR_008261
58RS1p.Cys223ArgVAR_008262
59RS1p.Ser73ProVAR_065326
60RS1p.Asp145HisVAR_065327
61RS1p.Arg156GlyVAR_065328
62RS1p.Pro192LeuVAR_065329
63RS1p.Arg209CysVAR_065330
64RS1p.Arg213GlnVAR_065331

Clinvar genetic disease variations for Retinoschisis:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000330.3(RS1): c.286T> C (p.Trp96Arg)single nucleotide variantPathogenicrs61752063GRCh37Chr X, 18665351: 18665351
2NM_000330.3(RS1): c.304C> T (p.Arg102Trp)single nucleotide variantPathogenicrs61752067GRCh37Chr X, 18665333: 18665333
3NM_000330.3(RS1): c.214G> A (p.Glu72Lys)single nucleotide variantPathogenicrs104894928GRCh37Chr X, 18665423: 18665423
4NM_000330.3(RS1): c.216G> C (p.Glu72Asp)single nucleotide variantPathogenicrs104894932GRCh37Chr X, 18665421: 18665421
5NM_000330.3(RS1): c.221G> T (p.Gly74Val)single nucleotide variantPathogenicrs104894933GRCh37Chr X, 18665416: 18665416
6NM_000330.3(RS1): c.325G> C (p.Gly109Arg)single nucleotide variantPathogenicrs104894934GRCh37Chr X, 18665312: 18665312
7RS1NM_000330.3(RS1): c.38T> C (p.Leu13Pro)single nucleotide variantPathogenicrs104894935GRCh37Chr X, 18690151: 18690151
8NM_000330.3(RS1): c.667T> C (p.Cys223Arg)single nucleotide variantPathogenicrs104894929GRCh37Chr X, 18660132: 18660132
9RS1RS1, 4-BP INSinsertionPathogenic
10NM_000330.3(RS1): c.608C> T (p.Pro203Leu)single nucleotide variantPathogenicrs104894930GRCh37Chr X, 18660191: 18660191
11NM_000330.3(RS1): c.305G> A (p.Arg102Gln)single nucleotide variantPathogenicrs61752068GRCh37Chr X, 18665332: 18665332
12NM_000330.3(RS1): c.574C> T (p.Pro192Ser)single nucleotide variantLikely pathogenicrs61753174GRCh37Chr X, 18660225: 18660225

Expression for genes affiliated with Retinoschisis

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Search GEO for disease gene expression data for Retinoschisis.

Pathways for genes affiliated with Retinoschisis

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Pathways related to Retinoschisis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.6ATP1A3, COL2A1

GO Terms for genes affiliated with Retinoschisis

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

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:00076059.2COL2A1, NDP

Sources for Retinoschisis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet