Retinoschisis 1, X-Linked, Juvenile disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

RS1 MCID: RTN209 MIFTS: 62	Retinoschisis 1, X-Linked, Juvenile (RS1) Categories: Blood diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Retinoschisis 1, X-Linked, Juvenile

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

Name: Retinoschisis 1, X-Linked, Juvenile ⁵⁶ ⁷¹

Retinoschisis ⁵⁶ ¹² ⁷⁴ ²⁹ ¹³ ⁶ ⁴³ ¹⁵ ⁷¹

Juvenile Retinoschisis ²⁴ ⁵² ²⁵ ³⁶ ²⁹ ⁵⁴ ⁶

X-Linked Juvenile Retinoschisis ¹² ²⁴ ⁵² ²⁵ ⁵⁸

X-Linked Retinoschisis ¹² ²⁴ ⁵² ²⁵ ⁵⁸

X-Linked Juvenile Retinoschisis 1 ¹² ¹⁵

Xlrs1 ⁵⁶ ⁷³

Xlrs ¹² ⁵⁸

Rs1 ⁵⁶ ⁷³

Xjr ⁵² ²⁵

Retinoschisis Juvenile X Chromosome-Linked ⁵²

Congenital X-Linked Retinoschisis ²⁵

Retinoschisis Juvenile X-Linked 1 ⁷³

Retinoschisis, Juvenile, X-Linked ⁷¹

Retinoschisis, Degenerative ⁷¹

Degenerative Retinoschisis ²⁵

Retinoschisis, X-Linked ⁷⁴

Retinoschisis X-Linked ⁵²

Rs ⁵⁶

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:

⁵⁶

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 dominant inheritance x-linked recessive inheritance

GeneReviews:

²⁴

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Neuronal diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

Congenital malformations of posterior segment of eye

Congenital malformation of retina

Orphanet: ⁵⁸

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060763 DOID:8465

OMIM ⁵⁶ 312700

KEGG ³⁶ H01766

ICD9CM ³⁴ 361.10

MeSH ⁴³ D041441

NCIt ⁴⁹ C85046

SNOMED-CT ⁶⁷ 44268007

ICD10 ³² H33.10 Q14.1

ICD10 via Orphanet ³³ Q14.1

UMLS via Orphanet ⁷² C0271091

Orphanet ⁵⁸ ORPHA792

MedGen ⁴¹ C0271091 C3714753

SNOMED-CT via HPO ⁶⁸ 103252009 128306009 193570009 more

UMLS ⁷¹ C0152439 C0271091 C1137478 more

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Summaries for Retinoschisis 1, X-Linked, Juvenile

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. 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 vitreoretinal dystrophy and oguchi disease. An important gene associated with Retinoschisis 1, X-Linked, Juvenile is RS1 (Retinoschisin 1), and among its related pathways/superpathways are cAMP signaling pathway and Metabolism of fat-soluble vitamins. The drugs Dorzolamide and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related phenotypes are cataract and abnormal electroretinogram

NIH Rare Diseases : ⁵² 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.

OMIM : ⁵⁶ 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)

KEGG : ³⁶ Juvenile retinoschisis is an early-onset X-linked retinal disease caused by mutations in retinoschisin (RS1), extracellular protein implicated in retinal cell adhesion. This disease is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration. Affected persons typically display cystic streaks projecting from the parafoveal region of the retina, and a reduction in the b-wave amplitude of the full-field electroretinogram (ERG). Optical coherence tomography (OCT) further reveals a splitting of the outer plexiform and adjacent retinal layers.

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁷⁴ Retinoschisis is an eye disease characterized by the abnormal splitting of the retina's neurosensory... more...

GeneReviews: NBK1222

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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 562)

#	Related Disease	Score	Top Affiliating Genes
1	vitreoretinal dystrophy	32.8	RS1 NR2E3
2	oguchi disease	32.5	RHO NYX GRK1 CACNA1F
3	coats disease	32.2	RS1 RHO CRB1
4	retinal perforation	32.0	RS1 RPE65
5	choroidal dystrophy, central areolar, 1	31.9	RS1 RPE65 CRX ABCA4
6	bullous retinoschisis	31.8	SARM1 RS1 RGS11 PRDX6
7	enhanced s-cone syndrome	31.8	RPGR RPE65 RHO NR2E3 GRK1 CRX
8	macular dystrophy, dominant cystoid	31.4	RS1 RPE65 NR2E3 CRB1 BEST1 ABCA4
9	macular retinal edema	30.9	RHO CRB1 BEST1
10	myopia	30.6	RPGR RHO NYX GRK1 CNGB3 CACNA1F
11	hereditary retinal dystrophy	30.6	RS1 RPE65 RHO MERTK CRX CRB1
12	peripheral retinal degeneration	30.5	RPGR RHO ABCA4
13	night blindness, congenital stationary, type 1e	30.4	NYX CACNA1F
14	bietti crystalline corneoretinal dystrophy	30.4	RPGR RPE65 ABCA4
15	inherited retinal disorder	30.2	RS1 RPGR RPE65 RHO NYX NR2E3
16	retinal degeneration	30.1	RS1 RPGR RPE65 RHO NR2E3 MERTK
17	macular degeneration, age-related, 1	30.0	RS1 RPGR RPE65 RHO NR2E3 MERTK
18	scotoma	30.0	RPGR RPE65 RHO CRB1 CNGB3 CNGA3
19	fundus albipunctatus	30.0	RS1 RPGR RPE65 RHO NR2E3 GRK1
20	choroid disease	30.0	RS1 RPGR RPE65 RHO MERTK CNGB3
21	yemenite deaf-blind hypopigmentation syndrome	30.0	RPGR RPE65 RHO CRB1 CHM ABCA4
22	retinal disease	29.9	ABCA4 RS1 RPGR RPE65 RHO NYX
23	usher syndrome, type i	29.9	RPGR RPE65 RHO CRX
24	nanophthalmos	29.9	RPE65 RHO CRB1 BEST1
25	eye disease	29.9	RS1 RPGR RPE65 RHO NR2E3 CRX
26	usher syndrome	29.9	RPGR RPE65 RHO CRX CRB1 ABCA4
27	retinitis	29.7	RPGR RPE65 RHO MERTK CRB1 ABCA4
28	color blindness	29.6	RPGR RPE65 RHO CRX CNGB3 CNGA3
29	eye degenerative disease	29.3	RS1 RPGR RPE65 RHO NR2E3 MERTK
30	fundus dystrophy	29.2	RS1 RPGR RPE65 RHO NYX NR2E3
31	cone dystrophy	29.1	RPGR RPE65 RHO MERTK CNGB3 CNGA3
32	choroideremia	29.1	RPGR RPE65 RHO MERTK CNGB3 CNGA3
33	night blindness	29.1	RPGR RPE65 RHO NYX NR2E3 GRK1
34	stargardt disease	28.9	RS1 RPGR RPE65 RHO NR2E3 MERTK
35	pathologic nystagmus	28.8	RPGR RPE65 RHO NYX CRX CRB1
36	retinitis pigmentosa	28.8	RS1 RPGR RPE65 RHO NYX NR2E3
37	congenital stationary night blindness	28.7	RS1 RPGR RPE65 RHO RGS11 NYX
38	leber plus disease	28.7	RS1 RPGR RPE65 RHO NR2E3 MERTK
39	achromatopsia	28.4	RS1 RPGR RPE65 RHO NYX NR2E3
40	retinoschisis, autosomal dominant	12.4
41	flat retinoschisis	12.4
42	severe combined immunodeficiency with sensitivity to ionizing radiation	12.0
43	retinal detachment	11.7
44	lymphoma, hodgkin, classic	11.6
45	reye syndrome	11.6
46	myelodysplastic syndrome	11.5
47	richter's syndrome	11.5
48	myelodysplastic/myeloproliferative neoplasm	11.5
49	raynaud disease	11.5
50	robinow syndrome	11.5

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

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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	cataract ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000518
2	abnormal electroretinogram ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000512
3	glaucoma ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000501
4	abnormality of eye movement ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000496
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:

⁵⁶

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

Clinical features from OMIM:

312700

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

²⁶ (show all 47)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-105	10.22	CACNA1F
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-116	10.22	CACNA1F CNGB3 GRK1 RPGR
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-126	10.22	CNGB3
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-139	10.22	CACNA1F CNGB3 GRK1 RPGR
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-16	10.22	CNGB3
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-168	10.22	CACNA1F CNGB3
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-214	10.22	GRK1
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-32	10.22	GRK1
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-40	10.22	CACNA1F CNGB3
10	Decreased shRNA abundance (Z-score < -2)	GR00366-A-43	10.22	CNGB3 GRK1
11	Decreased shRNA abundance (Z-score < -2)	GR00366-A-73	10.22	CNGB3 RPGR
12	Decreased shRNA abundance (Z-score < -2)	GR00366-A-98	10.22	CNGB3 RPGR
13	Decreased viability	GR00055-A-1	9.98	MERTK
14	Decreased viability	GR00055-A-2	9.98	MERTK
15	Decreased viability	GR00221-A-1	9.98	GRK1 MERTK
16	Decreased viability	GR00221-A-4	9.98	MERTK
17	Decreased viability	GR00249-S	9.98	CRX PRDX6
18	Decreased viability	GR00301-A	9.98	GRK1
19	Decreased viability	GR00342-S-1	9.98	GRK1
20	Decreased viability	GR00342-S-2	9.98	GRK1
21	Decreased viability	GR00381-A-1	9.98	NYX
22	Decreased viability	GR00381-A-2	9.98	NYX
23	Decreased viability	GR00381-A-3	9.98	NYX
24	Decreased viability	GR00386-A-1	9.98	CRX RGS11
25	Decreased viability	GR00402-S-2	9.98	BEST1 GRK1 NYX RGS11 RHO SARM1
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-100	9.72	CACNA1F RPGR
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-117	9.72	CACNA1F
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-145	9.72	GRK1
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-148	9.72	GRK1
30	Increased shRNA abundance (Z-score > 2)	GR00366-A-149	9.72	RPGR
31	Increased shRNA abundance (Z-score > 2)	GR00366-A-166	9.72	GRK1
32	Increased shRNA abundance (Z-score > 2)	GR00366-A-167	9.72	CNGB3
33	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	9.72	RPGR
34	Increased shRNA abundance (Z-score > 2)	GR00366-A-172	9.72	CACNA1F
35	Increased shRNA abundance (Z-score > 2)	GR00366-A-174	9.72	MERTK
36	Increased shRNA abundance (Z-score > 2)	GR00366-A-200	9.72	CNGB3
37	Increased shRNA abundance (Z-score > 2)	GR00366-A-207	9.72	RPGR
38	Increased shRNA abundance (Z-score > 2)	GR00366-A-216	9.72	MERTK
39	Increased shRNA abundance (Z-score > 2)	GR00366-A-26	9.72	CACNA1F
40	Increased shRNA abundance (Z-score > 2)	GR00366-A-45	9.72	RPGR
41	Increased shRNA abundance (Z-score > 2)	GR00366-A-49	9.72	RPGR
42	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	9.72	CACNA1F RPGR
43	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	9.72	GRK1
44	Increased shRNA abundance (Z-score > 2)	GR00366-A-65	9.72	CACNA1F
45	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	9.72	CACNA1F
46	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.72	GRK1 MERTK
47	Increased shRNA abundance (Z-score > 2)	GR00366-A-9	9.72	CNGB3

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.09	ABCA4 ATP1B2 CACNA1F CHM CNGA3 CNGB3
2	cellular	MP:0005384	10	ATP1B2 BEST1 CACNA1F CNGB3 CRB1 GRK1
3	pigmentation	MP:0001186	9.65	ABCA4 BEST1 CHM CRB1 CRX MERTK
4	vision/eye	MP:0005391	9.58	ABCA4 ATP1B2 BEST1 CACNA1F CHM CNGA3

Sources

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

Dorzolamide

Approved

Phase 4

120279-96-1

5284549 3154

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-sulfonate amide

(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,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,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,6S)-4-ethylamino-6-Methyl-7,7-dioxo-4,5,6,7-tetrahydro-7lambda*6*-thieno[2,3-b]thiopyran-2-sulphonate amide

(4S,6S)-4-ethylamino-6-Methyl-7,7-dioxo-4,5,6,7-tetrahydro-7lambda*6*-thieno[2,3-b]thiopyran-2-sulphonic 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)-6-Methyl-5,6-dihydro-4H-thieno[2,3-b]thiopyran-2-sulphonamide 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

(4S-trans)-4-(ethylamino)-5,6-dihydro-6-METHYL-4H-thieno(2,3-b)thiopyran-2-sulphonamide-7,7-dioxide

120279-96-1

1cil

4-ethylamino-5,6-dihydro-6-Methyl-7,7-dioxide-4H-thieno(2,3-b)thiopyran-2-sulfonamide

4-ethylamino-6-Methyl-7,7-dioxo-4,5,6,7-tetrahydro-7lambda*6*-thieno[2,3-b]thiopyran-2-sulfonate amide

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-7lambda*6*-thieno[2,3-b]thiopyran-2-sulfonic acid amide

4-ethylamino-6-Methyl-7,7-dioxo-4,5,6,7-tetrahydro-7lambda*6*-thieno[2,3-b]thiopyran-2-sulphonate amide

4-ethylamino-6-Methyl-7,7-dioxo-4,5,6,7-tetrahydro-7lambda*6*-thieno[2,3-b]thiopyran-2-sulphonic acid amide

4-ethylamino-6-Methyl-7,7-dioxo-4,5,6,7-tetrahydro-7lambda6-thieno[2,3-b]thiopyran-2-sulfonate amide

4-ethylamino-6-methyl-7,7-dioxo-4,5,6,7-tetrahydro-7lambda6-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

4-ethylamino-6-Methyl-7,7-dioxo-4,5,6,7-tetrahydro-7lambda6-thieno[2,3-b]thiopyran-2-sulphonate amide

4-ethylamino-6-Methyl-7,7-dioxo-4,5,6,7-tetrahydro-7lambda6-thieno[2,3-b]thiopyran-2-sulphonic acid amide

4S,6S-dorzolamide

4S,6S-Dorzolamide

5,6-dihydro-4-ethylamino-6-Methyl-4H-thieno(2,3-b)thiopyran-2-sulfonamide-7,7-dioxide

AB00514687

AC1NR4NP

BIDD:GT0306

BPBio1_001377

BRD-K48617017-003-03-1

BSPBio_001252

C06969

CHEBI:4702

CHEMBL218490

CID5284549

D07871

DB04507

Dorzolamid

Dorzolamida

dorzolamide

Dorzolamide

Dorzolamide (DZA)

Dorzolamide (INN)

Dorzolamide chibret

Dorzolamide hydrochloride

Dorzolamide, (trans)-isomer

Dorzolamidum

HMS2089O06

MolPort-005-941-739

Prestwick0_001116

Prestwick1_001116

Prestwick2_001116

Prestwick3_001116

SPBio_003116

STK645522

Trusopt

Trusopt (TN)

Triamcinolone

Approved, Vet_approved

Phase 4

124-94-7

31307

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

11b,16a,17a,21-Tetrahydroxy-9a-fluoro-1,4-pregnadiene-3,20-dione

11beta,16alpha,17alpha,21-Tetrahydroxy-9alpha-fluoro-1,4-pregnadiene-3,20-dione

11-beta,16-alpha,17-alpha,21-Tetrahydroxy-9-alpha-fluoro-1,4-pregnadiene-3,20-dione

11β,16α,17α,21-tetrahydroxy-9α-fluoro-1,4-pregnadiene-3,20-dione

124-94-7

4-08-00-03629 (Beilstein Handbook Reference)

83474-03-7

9.Alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahy

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-d

9.alpha.-Fluoro-11.beta.,16.alpha.,17.alpha.,21-tetrahydroxypregna-1,4-diene-3,20-dione

9.alpha.-Fluoro-16.alpha.-hydroxyprednisolone

9a-fluoro-11b,16a,17,21-Tetrahydroxypregna-1,4-diene-3,20-dione

9a-fluoro-11b,16a,17a,21-Tetrahydroxypregna-1,4-diene-3,20-dione

9a-fluoro-16a-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,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

9alpha-fluoro-11beta,16alpha,17alpha,21-Tetrahydroxypregna-1,4-diene-3,20-dione

9alpha-fluoro-16alpha-Hydroxyprednisolone

9alpha-Fluoro-16alpha-hydroxyprednisolone

9-alpha-Fluoro-16-alpha-hydroxyprednisolone

9-Fluoro-11,16,17,21-tetrahydroxypregna-1,4-diene-3,20-dione

9-fluoro-11b,16a,17,21-Tetrahydroxypregna-1,4-diene-3,20-dione

9-fluoro-11beta,16alpha,17,21-Tetrahydroxypregna-1,4-diene-3,20-dione

9-Fluoro-11beta,16alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione

9-fluoro-11β,16α,17,21-tetrahydroxypregna-1,4-diene-3,20-dione

9α-fluoro-11β,16α,17,21-tetrahydroxypregna-1,4-diene-3,20-dione

9α-fluoro-11β,16α,17α,21-tetrahydroxypregna-1,4-diene-3,20-dione

9α-fluoro-16α-hydroxyprednisolone

AC1L1LDH

AC1Q5HJC

AC-2072

Adcortyl

Aristocort

Aristocort A

Aristocort Tablets

Aristogel

Aristospan

Azmacort

Bio-0662

BPBio1_000154

BRD-K77554836-001-03-3

BRN 2341955

BSPBio_000140

C21H27FO6

Celeste

CHEMBL1451

CID31307

Cinolone

Cinolone-T

CL 19823

D00385

D014221

DB00620

Delphicort

droxypregna-1,4-diene-3,20-dione

EINECS 204-718-7

EU-0101179

Fluoxiprednisolone

Fluoxyprednisolone

Flutex

Fougera

HMS1568G22

HMS2090D12

HSDB 3194

ione

Kenacort

Kenacort (TN)

Kenacort-A

Kenacort-Ag

Kenacort-AG

Kenalog

Kenalog in Orabase

Kenalog-10

Kenalog-40

Kenalog-H

Ledercort

Lopac0_001179

LS-698

MLS000028542

MLS001066543

MLS002695935

MolPort-002-528-981

Mycolog

Nasacort

Nasacort Aq

Nasacort Hfa

NCGC00021580-03

NCGC00021580-04

NCGC00021580-05

NCGC00021580-06

NCGC00021580-07

nchembio.2007.53-comp7

NCI60_000750

NSC 13397

NSC13397

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)

Prestwick_438

Prestwick0_000120

Prestwick1_000120

Prestwick2_000120

Prestwick3_000120

Rodinolone

S1933_Selleck

Sk-Triamcinolone

SK-Triamcinolone

SMP1_000300

SMR000058333

SPBio_002079

T6376_SIGMA

Tiamcinolonum

Tiamcinolonum [INN-Latin]

Triacet

Triacort

Triamcet

Triamcinalone

Triamcinlon

Triamcinolon

Triamcinolona

Triamcinolona [INN-Spanish]

triamcinolone

Triamcinolone

Triamcinolone (JP15/USP/INN)

TRIAMCINOLONE (SEE ALSO TRIAMCINOLONE ACETONIDE (76-25-5) AND TRIAMCINOLONE DIACETATE (67-78-7))

Triamcinolone [USAN:INN:BAN:JAN]

Triamcinolone acetonide

Triamcinolone diacetate

Triamcinolone hexacetonide

Triamcinolonum

Triamcinolonum [INN]

Triam-Tablinen

Triatex

Tricortale

Triderm

Trilone

Tri-Nasal

Tristoject

Trymex

UNII-1ZK20VI6TY

Vetalog

Volon

Volon A

WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ GQ

ZINC03882036

Bupivacaine

Approved, Investigational

Phase 4

2180-92-9, 38396-39-3

2474

Synonyms:

( inverted exclamation markA)-bupivacaine

(+-)-Bupivacaine

(±)-bupivacaine

(1)-1-Butyl-N-(2,6-dimethylphenyl)piperidine-2-carboxamide

(RS)-bupivacaine

15233-43-9

1-Butyl-2',6'-pipecoloxylidide

1-Butyl-N-(2,6-dimethylphenyl)-2-piperidinecarboxamide

1-butyl-N-(2,6-dimethylphenyl)piperidine-2-carboxamide

2180-92-9

38396-39-3

AB00053674

Abbott brand OF bupivacaine hydrochloride

AC1L1DRE

AC1Q5LX4

AC-2096

AH 250

AKOS001637202

Anekain

Anhydrous, bupivacaine

AR-1A0242

Astra brand OF bupivacaine hydrochloride

AstraZeneca brand OF bupivacaine hydrochloride

Aventis brand OF bupivacaine hydrochloride

Bio-0886

Bloqueina

BPBio1_000298

Braun brand OF bupivacaine hydrochloride

Braun, bupivacaina

BRD-A01636364-003-05-2

BSPBio_000270

BSPBio_002607

Bucaine

Bucaine (TN)

Bupivacain janapharm

Bupivacain RPR

Bupivacaina

Bupivacaina [INN-Spanish]

Bupivacaina braun

bupivacaine

Bupivacaine

Bupivacaine (INN)

Bupivacaine [INN:BAN]

Bupivacaine anhydrous

Bupivacaine carbonate

Bupivacaine Carbonate

Bupivacaine HCL

Bupivacaine HCL kit

Bupivacaine HCL KIT

Bupivacaine hydrochloride

Bupivacaine monohydrochloride, monohydrate

Bupivacaine Monohydrochloride, Monohydrate

Bupivacain-RPR

Bupivacainum

Bupivacainum [INN-Latin]

Bupivan

Buvacaina

C07529

C18H28N2O

Carbonate, bupivacaine

Carbostesin

cBupivacaine

CBupivacaine

CHEBI:3215

CHEMBL1098

CID2474

D07552

DB00297

DepoBupivacaine

DivK1c_000758

dl-1-Butyl-2',6'-pipecoloxylidide

DL-Bupivacaine

Dolanaest

DUR-843

EINECS 218-553-3

EINECS 253-911-2

HMS2090F12

Hydrochloride, bupivacaine

IDI1_000758

Inibsa brand OF bupivacaine hydrochloride

Janapharm, bupivacain

Jenapharm brand OF bupivacaine hydrochloride

KBio1_000758

KBio2_002004

KBio2_004572

KBio2_007140

KBio3_001827

KBioGR_001516

KBioSS_002004

KST-1A4609

L000695

LAC-43

LS-109841

LS-2222

Marcain

Marcaina

Marcaine

Marcaine HCL

Marcaine Spinal

MLS001361336

MolPort-004-955-820

NCGC00178579-01

NCGC00178579-02

NINDS_000758

NSC119660

Pisa brand OF bupivacaine hydrochloride

Prestwick0_000305

Prestwick1_000305

Prestwick2_000305

Prestwick3_000305

Racemic bupivacaine

Sensorcaine

Sensorcaine-MPF

Sensorcaine-MPF Spinal

SMR000058218

SPBio_001558

SPBio_002489

Spectrum_001524

Spectrum2_001589

Spectrum3_000974

Spectrum4_001098

Spectrum5_001483

Strathmann brand OF bupivacaine hydrochloride

Svedocain sin vasoconstr

Transdur-Bupivacaine

UNII-Y8335394RO

Win 11318

Win 11318 HCl

Antihypertensive Agents

Phase 4

Carbonic Anhydrase Inhibitors

Phase 4

Anesthetics

Phase 4

Immunologic Factors

Phase 4

Hormones

Phase 4

Hormone Antagonists

Phase 4

triamcinolone acetonide

Phase 4

Immunosuppressive Agents

Phase 4

Triamcinolone diacetate

Phase 4

Triamcinolone hexacetonide

Phase 4

Anesthetics, Local

Phase 4

glucocorticoids

Phase 4

Anti-Inflammatory Agents

Phase 4

Bevacizumab

Approved, Investigational

216974-75-3

Synonyms:

216974-75-3

antiVEGF

Anti-VEGF Humanized Monoclonal Antibody

anti-VEGF monoclonal antibody

Anti-VEGF monoclonal antibody

Avastin

Avastin (TN)

bevacizumab

Bevacizumab

Bevacizumab (genetical recombination)

Bevacizumab (genetical recombination) (JAN)

bevacizumab-awwb

D06409

R-435

rhuMAb-VEGF

Brinzolamide

Approved

138890-62-7

68844

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

(R)-4-(Ethylamino)-3,4-dihydro-2-(3-methoxypropyl)-2H-thieno(3,2-e)-1,2-thiazine-6-sulfonamide 1,1-dioxide

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

AC1L2AKA

AC1Q6UVB

AC-5277

AKOS005145708

AL 4862

AL04862

AL-4862

Alcon brand of brinzolamide

Alcon brand OF brinzolamide

Allphar brand of brinzolamide

Allphar brand OF brinzolamide

Azopt

Azopt (TN)

BIDD:GT0039

Birnzolamide

BPBio1_000539

BRD-K74913225-001-03-3

Brinzolamida

Brinzolamide

Brinzolamide (BRZ)

Brinzolamide (JAN/USP/INN)

Brinzolamide [USAN]

BSPBio_000489

BZ1

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

Diminazene aceturate

Angiogenesis Inhibitors

Antineoplastic Agents, Immunological

Interventional clinical trials:

(show all 24)

#	Name	Status	NCT ID	Phase	Drugs
1	Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration	Unknown status	NCT00716586	Phase 4	dorzolamide
2	The Effects of Triamcinolone Acetonide With Retrobulbar Anesthesia on Postoperative Pain Control Following Vitreoretinal Surgery	Completed	NCT01995045	Phase 4	Triamcinolone;Bupivicaine Hydrochloride
3	A Phase I/IIa Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis	Recruiting	NCT02317887	Phase 1, Phase 2
4	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
5	Macular Tractional Retinoschisis in Proliferative Diabetic Retinopathy	Unknown status	NCT01312207
6	Combined Phako-Vitrectomy With ILM Peeling, Retinal Endophotocoagulation, and Intraoperative Use of Bevacizumab for Diffuse Diabetic Macular Edema	Unknown status	NCT01218750
7	Patient Expectations When Enrolling in a Phase I/II RS1 Ocular Gene Transfer Clinical Trial	Completed	NCT02317354
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	Color Vision as an Outcome Measure for Clinical Trials of Inherited Retinal Degenerations	Completed	NCT01878032
11	Macular Retinoschisis and Detachment Associated With Glaucomatous Optic Neuropathy But Without Optic Disc Pit Nor High Myopia	Completed	NCT01862627
12	The Association of the Peripheral Retinal Changes and Genotypic Changes in Patients With Age Related Macular Degeneration	Completed	NCT03492853
13	Macular Detachment Associated With Intrachoroidal Cavitation	Completed	NCT01959724
14	Use of Spectral Domain Optical Coherence Tomography to Differentiate and Follow-up Senile Retinoschisis and Retinal Detachment	Completed	NCT02682797
15	Ultrastructure Analysis of Excised Internal Limiting Membrane in Eyes of Highly Myopia With Myopic Traction Maculopathy	Completed	NCT02528058
16	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
17	Evaluation of Pars Plana Vitrectomy With Internal Limiting Membrane Peeling for Myopic Traction Maculopathy	Completed	NCT04278079
18	Vitrectomy Without Laser or Gas Tamponade for Optic Disc Pit Maculopathy	Completed	NCT01340703
19	Fundus Changes in the Microphthalmy Eyes	Completed	NCT00811512
20	Optical Coherence Tomography Imaging of the Posterior Segment in High Myopia.	Completed	NCT00347451
21	X-Linked Juvenile Retinoschisis - Clinical and Molecular Studies	Recruiting	NCT00055029
22	Application of Pars Plana Vitrectomy in the Treatment of Macular Schisis in High Myopic Eyes	Recruiting	NCT03586193
23	Foundation Fighting Blindness Registry, My Retina Tracker	Recruiting	NCT02435940
24	A Randomized Controlled Trial Comparing Pneumatic Retinopexy Versus Vitrectomy for the Management of Primary Retinal Detachment in Patients With Extended Criteria; Anatomical Success, Functional Success and Impact on Patient Quality of Life	Recruiting	NCT02871531

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

Cochrane evidence based reviews: retinoschisis

Sources

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
2	Retinoschisis ²⁹

Sources

Anatomical Context for Retinoschisis 1, X-Linked, Juvenile

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

⁴⁰

Eye, Retina, Testes, Endothelial, Pineal

Sources

Publications for Retinoschisis 1, X-Linked, Juvenile

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

(show top 50) (show all 1324)

#	Title	Authors	PMID	Year
1	First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis. ⁵⁶ ²⁴ ⁵⁴ ⁶¹ ⁶	Gehrig A...Andrassi M	10636740	1999
2	Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland. ²⁴ ⁶ ⁵⁶ ⁶¹	Huopaniemi L...Alitalo T	10234514	1999
3	Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. ⁶¹ ⁵⁶ ²⁴ ⁶		9618178	1998
4	Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. ⁵⁶ ⁶ ⁵⁴ ⁶¹	Hiriyanna KT...Sieving PA	10533068	1999
5	X-linked retinoschisis in a female with a heterozygous RS1 missense mutation. ⁵⁶ ⁶ ⁶¹	Saldana M...Sheridan E	17304551	2007
6	Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. ⁵⁴ ⁵⁶ ⁶¹ ²⁴	Weber BH...Molday RS	11983912	2002
7	Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. ⁶¹ ⁵⁴ ⁵⁶ ²⁴	Eksandh LC...Sieving PA	10922205	2000
8	Positional cloning of the gene associated with X-linked juvenile retinoschisis. ⁶¹ ⁶ ⁵⁶	Sauer CG...Weber BH	9326935	1997
9	Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis. ⁶¹ ²⁴ ⁵⁶	Wang T...Trump D	12417531	2002
10	Hereditary X-linked juvenile retinoschisis: a review of the role of Müller cells. ²⁴ ⁶¹ ⁵⁶	Mooy CM...Weber BH	12096974	2002
11	Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. ⁵⁶ ⁵⁴ ⁶¹	Hayashi T...Kitahara K	15531314	2004
12	X-Linked juvenile retinoschisis associated with a 4-base pair insertion at codon 55 of the XLRS1 gene. ⁶¹ ⁵⁴ ⁶	Hiraoka M...Shastry BS	10679210	2000
13	Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing. ⁶¹ ⁵⁶	Wang NK...Lai CC	25999676	2015
14	Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene. ⁵⁶ ⁶¹	Duncan JL...Roorda A	22110067	2011
15	Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. ⁶¹ ⁵⁶	Sergeev YV...Sieving PA	20061330	2010
16	Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy. ⁶¹ ⁵⁶	Dyka FM...Molday RS	17525175	2007
17	X-linked retinoschisis: an update. ⁶¹ ⁵⁶	Sikkink SK...Trump D	17172462	2007
18	Novel phenotypic and genotypic findings in X-linked retinoschisis. ⁶¹ ⁵⁶	Tsang SH...Holder GE	17296904	2007
19	X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. ⁵⁶ ⁶¹	Pimenides D...Trump D	15937075	2005
20	Optical coherence tomography findings in familial foveal retinoschisis. ⁶¹ ⁵⁶	Ozdemir H...Karacorlu M	14700666	2004
21	X-Linked Juvenile Retinoschisis ⁶¹ ⁶	Sieving PA...Chan S	20301401	2003
22	Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. ⁶¹ ⁵⁴ ²⁴	Wu WW...Molday RS	12746437	2003
23	Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the XLRS1 gene. ⁵⁴ ⁶¹ ²⁴	Nakamura M...Miyake Y	11594966	2001
24	Axial length and refractive error in X-linked retinoschisis. ⁶¹ ⁵⁶	Kato K...Kanda T	11384589	2001
25	X-linked retinoschisis with point mutations in the XLRS1 gene. ⁶¹ ⁵⁶	Inoue Y...Tano Y	10636421	2000
26	A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation. ⁶¹ ⁵⁶	Mendoza-Londono R...Tamayo ML	10415464	1999
27	Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis. ⁶¹ ⁵⁶	Huopaniemi L...Alitalo T	9150161	1997
28	An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. ⁶¹ ⁵⁶	Van de Vosse E...Den Dunnen JT	8744027	1996
29	Refined genetic mapping of juvenile X-linked retinoschisis. ⁶¹ ⁵⁶	Pawar H...Sieving PA	7558052	1995
30	Infantile presentation of X linked retinoschisis. ⁶¹ ⁵⁶	George ND...Moore AT	7662629	1995
31	X linked retinoschisis. ⁵⁶ ⁶¹	George ND...Moore AT	7662639	1995
32	Mizuo phenomenon in X-linked retinoschisis. Pathogenesis of the Mizuo phenomenon. ⁶¹ ⁵⁶	de Jong PT...van Norren D	1867553	1991
33	Contribution to carrier detection and genetic counselling in X linked retinoschisis. ⁵⁶ ⁶¹	Kaplan J...Dufier JL	1678432	1991
34	Male proband with X linked retinoschisis apparently inherited from his father's family. ⁶¹ ⁵⁶	Newton MS...Phillips CI	2051461	1991
35	Refined localization of the gene causing X-linked juvenile retinoschisis. ⁵⁶ ⁶¹	Alitalo T...de la Chapelle A	2032721	1991
36	Linkage relationship of X-linked juvenile retinoschisis with Xp22.1-p22.3 probes. ⁶¹ ⁵⁶	Sieving PA...Ginsburg D	1977307	1990
37	Linkage relationship between retinoschisis and four marker loci. ⁶¹ ⁵⁶	Gellert G...Zoll B	2900804	1988
38	Detection of the carrier state of X-linked retinoschisis. ⁶¹ ⁵⁶	Arden GB...Bird AC	3377039	1988
39	DNA linkage analysis of X-linked retinoschisis. ⁶¹ ⁵⁶	Dahl N...Pettersson U	2894345	1988
40	X-linked retinoschisis is closely linked to DXS41 and DXS16 but not DXS85. ⁶¹ ⁵⁶	Alitalo T...de la Chapelle A	2887320	1987
41	Linkage relationships between Retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome. ⁶¹ ⁵⁶	Wieacker P...Ropers HH	6885047	1983
42	Visual acuity in 183 cases of X-chromosomal retinoschisis. ⁵⁶ ⁶¹	Forsius H...Eriksson AW	4742888	1973
43	Pathology of hereditary juvenile retinoschisis. ⁶¹ ⁵⁶	Manschot WA	5054298	1972
44	X-chromosomal recessive retinoschisis in the Region of Pori. An ophthalmo-genetical analysis of 103 cases. ⁶¹ ⁵⁶	Vainio-Mattila B...Forsius H	5395858	1969
45	Histopathology of juvenile retinoschisis. ⁵⁶ ⁶¹	Yanoff M...Zimmerman LE	5635090	1968
46	[SEX-RELATED HEREDITARY RETINOSCHISIS IN 2 FAMILIES IN FINLAND]. ⁶¹ ⁵⁶	FORSIUS H...VAINIO-MATTILA B	14115917	1963
47	X-LINKED HEREDITARY RETINOSCHISIS. ⁶¹ ⁵⁶	Forsius H...Eriksson A	18170832	1962
48	Hereditary retinoschisis. ⁵⁶ ⁶¹	GIESER EP...FALLS HF	13705184	1961
49	Retinoschisin gene therapy in photoreceptors, Müller glia or all retinal cells in the Rs1h-/- mouse. ⁶¹ ²⁴	Byrne LC...Flannery JG	24694538	2014
50	X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships. ⁶¹ ²⁴	Kim DY...Mukai S	24138048	2013

Sources

Genes for Retinoschisis 1, X-Linked, Juvenile

Genes related to Retinoschisis 1, X-Linked, Juvenile (1 elite genes):

(show all 23)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RS1	Retinoschisin 1	Protein Coding	1683.18	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ ¹⁵ Novoseek inferred ⁵⁴	17304551 10234514 10636740 (more) 20301401 10679210 10533068 9618178 9326935 12746437 10450864 15531314 16900931 17615541 12920343 11983912 20151283 18369700 12928282 11035549 12383832 19093009 10636740 10679210 11594966 11225572 11058916 10220153 15281981 12457918 11217940 17852193 11556484 18516436 14986011 10922205 7662636 18982040 18728755 10454824 9760195 19393523 10533068 10023077 12782284 16167295
2	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	14.41	DISEASES inferred ¹⁵ ¹⁵
3	NR2E3	Nuclear Receptor Subfamily 2 Group E Member 3	Protein Coding	14.32	DISEASES inferred ¹⁵ ¹⁵
4	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	14.16	DISEASES inferred ¹⁵ ¹⁵
5	NYX	Nyctalopin	Protein Coding	13.54	DISEASES inferred ¹⁵ ¹⁵
6	CACNA1F	Calcium Voltage-Gated Channel Subunit Alpha1 F	Protein Coding	13.53	DISEASES inferred ¹⁵ ¹⁵
7	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	13.47	DISEASES inferred ¹⁵ ¹⁵
8	CNGA3	Cyclic Nucleotide Gated Channel Subunit Alpha 3	Protein Coding	13.11	DISEASES inferred ¹⁵ ¹⁵
9	CNGB3	Cyclic Nucleotide Gated Channel Subunit Beta 3	Protein Coding	12.92	DISEASES inferred ¹⁵ ¹⁵
10	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	12.88	DISEASES inferred ¹⁵ ¹⁵
11	CRX	Cone-Rod Homeobox	Protein Coding	12.84	DISEASES inferred ¹⁵ ¹⁵
12	SARM1	Sterile Alpha And TIR Motif Containing 1	Protein Coding	12.48	DISEASES inferred ¹⁵ ¹⁵
13	RHO	Rhodopsin	Protein Coding	12.42	DISEASES inferred ¹⁵ ¹⁵
14	BEST1	Bestrophin 1	Protein Coding	12.4	DISEASES inferred ¹⁵ ¹⁵
15	GRK1	G Protein-Coupled Receptor Kinase 1	Protein Coding	12.33	DISEASES inferred ¹⁵ ¹⁵
16	CHM	CHM Rab Escort Protein	Protein Coding	12.29	DISEASES inferred ¹⁵ ¹⁵
17	PRDX6	Peroxiredoxin 6	Protein Coding	12.28	DISEASES inferred ¹⁵ ¹⁵
18	MERTK	MER Proto-Oncogene, Tyrosine Kinase	Protein Coding	12.22	DISEASES inferred ¹⁵ ¹⁵
19	ATP1B2	ATPase Na+/K+ Transporting Subunit Beta 2	Protein Coding	12.21	DISEASES inferred ¹⁵ ¹⁵
20	RGS11	Regulator Of G Protein Signaling 11	Protein Coding	12.17	DISEASES inferred ¹⁵ ¹⁵
21	CABP4	Calcium Binding Protein 4	Protein Coding	11.92	DISEASES inferred ¹⁵ ¹⁵
22	GNAT2	G Protein Subunit Alpha Transducin 2	Protein Coding	11.84	DISEASES inferred ¹⁵ ¹⁵
23	GRM6	Glutamate Metabotropic Receptor 6	Protein Coding	11.75	DISEASES inferred ¹⁵ ¹⁵

Sources

Variations for Retinoschisis 1, X-Linked, Juvenile

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

⁶ (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RS1	NM_000330.4(RS1):c.632C>T (p.Ala211Val)	SNV	Pathogenic	812429		X:18660167-18660167	X:18642047-18642047
2	RS1	NM_003159.2(CDKL5):c.2797+1141A>G	SNV	Pathogenic	9886	rs61752063	X:18665351-18665351	X:18647231-18647231
3	RS1	NM_003159.2(CDKL5):c.2797+1123G>A	SNV	Pathogenic	9887	rs61752067	X:18665333-18665333	X:18647213-18647213
4	CDKL5 , RS1	NM_003159.2(CDKL5):c.2797+1213C>T	SNV	Pathogenic	9888	rs104894928	X:18665423-18665423	X:18647303-18647303
5	RS1	NM_003159.2(CDKL5):c.2797+1211C>G	SNV	Pathogenic	9889	rs104894932	X:18665421-18665421	X:18647301-18647301
6	RS1	NM_003159.2(CDKL5):c.2797+1206C>A	SNV	Pathogenic	9890	rs104894933	X:18665416-18665416	X:18647296-18647296
7	RS1	NM_003159.2(CDKL5):c.2797+1102C>G	SNV	Pathogenic	9891	rs104894934	X:18665312-18665312	X:18647192-18647192
8	RS1	NM_000330.3(RS1):c.38T>C (p.Leu13Pro)	SNV	Pathogenic	9892	rs104894935	X:18690151-18690151	X:18672031-18672031
9	RS1	NM_003159.2(CDKL5):c.2714-3995A>G	SNV	Pathogenic	9893	rs104894929	X:18660132-18660132	X:18642012-18642012
10	RS1	RS1, 4-BP INS	insertion	Pathogenic	9894
11	RS1	NM_003159.2(CDKL5):c.2714-3936G>A	SNV	Pathogenic	9895	rs104894930	X:18660191-18660191	X:18642071-18642071
12	RS1	NM_003159.2(CDKL5):c.2797+1122C>T	SNV	Pathogenic	9896	rs61752068	X:18665332-18665332	X:18647212-18647212
13	RS1	NM_003159.2(CDKL5):c.2714-1384C>T	SNV	Pathogenic	98938	rs61752075	X:18662743-18662743	X:18644623-18644623
14	RS1	NM_003159.2(CDKL5):c.2714-1473C>T	SNV	Pathogenic	98956	rs61752156	X:18662654-18662654	X:18644534-18644534
15	RS1	NM_003159.2(CDKL5):c.2714-1476G>A	SNV	Pathogenic	98959	rs61752158	X:18662651-18662651	X:18644531-18644531
16	RS1	NM_003159.2(CDKL5):c.2714-3849T>C	SNV	Pathogenic	98982	rs281865349	X:18660278-18660278	X:18642158-18642158
17	RS1	NM_003159.2(CDKL5):c.2714-3902G>A	SNV	Pathogenic	98990	rs61753174	X:18660225-18660225	X:18642105-18642105
18	RS1	NM_003159.2(CDKL5):c.2714-3906G>A	SNV	Pathogenic	98994	rs281865352	X:18660221-18660221	X:18642101-18642101
19	RS1	NM_003159.2(CDKL5):c.2797+1219C>T	SNV	Pathogenic	372496	rs62645894	X:18665429-18665429	X:18647309-18647309
20	CDKL5 , RS1	NM_003159.2(CDKL5):c.2714-3918C>T	SNV	Pathogenic/Likely pathogenic	98997	rs281865355	X:18660209-18660209	X:18642089-18642089
21	RS1	NM_003159.2(CDKL5):c.2714-1477C>T	SNV	Pathogenic/Likely pathogenic	98960	rs61752159	X:18662650-18662650	X:18644530-18644530
22	RS1	NM_003159.2(CDKL5):c.2714-1578C>T	SNV	Pathogenic/Likely pathogenic	98979	rs281865348	X:18662549-18662549	X:18644429-18644429
23	CDKL5 , RS1	NM_003159.2(CDKL5):c.2714-3953G>A	SNV	Likely pathogenic	99006	rs281865361	X:18660174-18660174	X:18642054-18642054
24	RS1	NM_003159.2(CDKL5):c.2714-4001A>G	SNV	Likely pathogenic	371642	rs1057517433	X:18660126-18660126	X:18642006-18642006
25	RS1	NM_003159.2(CDKL5):c.2714-1553G>T	SNV	Likely pathogenic	370754	rs1057516744	X:18662574-18662574	X:18644454-18644454
26	RS1	NM_003159.2(CDKL5):c.2797+1161T>C	SNV	Likely pathogenic	98923	rs61752060	X:18665371-18665371	X:18647251-18647251
27	RS1	NM_003159.2(CDKL5):c.2797+1101C>T	SNV	Likely pathogenic	98937	rs281865345	X:18665311-18665311	X:18647191-18647191
28	RS1	NM_003159.2(CDKL5):c.2714-1404G>A	SNV	Uncertain significance	68072	rs199469696	X:18662723-18662723	X:18644603-18644603

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

⁷³ (show top 50) (show all 66)

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

Sources

Expression for Retinoschisis 1, X-Linked, Juvenile

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

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Pathways for Retinoschisis 1, X-Linked, Juvenile

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

#	Super pathways	Score	Top Affiliating Genes
1	cAMP signaling pathway ³⁶	11.96	CNGB3 CNGA3 CACNA1F ATP1B2
2	Metabolism of fat-soluble vitamins ⁶⁵ Show member pathways Metabolism of vitamin K ⁶⁵ Retinoid metabolism and transport ⁶⁵ The retinoid cycle in cones (daylight vision) ⁶⁵ Visual phototransduction ⁶⁵ Vitamin D (calciferol) metabolism ⁶⁵	11.89	RPE65 RHO GRK1 ABCA4
3	Phototransduction ³⁶ Show member pathways Activation of the phototransduction cascade ⁶⁵ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁵ The phototransduction cascade ⁶⁵ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.55	RPE65 RHO GRK1 CNGB3 CNGA3
4	the visual cycle I (vertebrates) ¹ Show member pathways retinol biosynthesis ¹ The canonical retinoid cycle in rods (twilight vision) ⁶⁵	11.07	RPE65 RHO ABCA4
5	Visual Cycle in Retinal Rods ⁶³	10.99	RPE65 RHO GRK1 CNGB3 CNGA3

Sources

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	photoreceptor disc membrane	GO:0097381	9.33	RHO GRK1 ABCA4
2	transmembrane transporter complex	GO:1902495	9.32	CNGB3 CNGA3
3	neuron to neuron synapse	GO:0098984	9.26	RS1 ATP1B2
4	photoreceptor inner segment	GO:0001917	9.26	RS1 RHO CRB1 ATP1B2
5	photoreceptor outer segment	GO:0001750	9.17	RPGR RHO MERTK GRK1 CNGB3 CACNA1F

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.91	CNGB3 CNGA3 CACNA1F BEST1 ATP1B2
2	response to stimulus	GO:0050896	9.8	RS1 RPGR RPE65 RHO NYX NR2E3
3	retina development in camera-type eye	GO:0060041	9.65	RPE65 RHO NR2E3 MERTK CRB1
4	photoreceptor cell maintenance	GO:0045494	9.62	RHO CRB1 ATP1B2 ABCA4
5	retinoid metabolic process	GO:0001523	9.54	RPE65 RHO ABCA4
6	visual perception	GO:0007601	9.5	RS1 RPGR RPE65 RHO NYX NR2E3
7	eye photoreceptor cell development	GO:0042462	9.49	NR2E3 CRB1
8	cellular response to light stimulus	GO:0071482	9.48	RHO CRB1
9	retina morphogenesis in camera-type eye	GO:0060042	9.46	RPE65 CRB1
10	detection of light stimulus involved in visual perception	GO:0050908	9.46	RPE65 CRB1 CACNA1F BEST1
11	rhodopsin mediated signaling pathway	GO:0016056	9.43	RHO GRK1
12	phototransduction, visible light	GO:0007603	9.4	RHO ABCA4

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

Sources for Retinoschisis 1, X-Linked, Juvenile

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Retinoschisis 1, X-Linked, Juvenile (RS1)

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

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

GeneReviews:

Classifications:

External Ids:

Summaries for Retinoschisis 1, X-Linked, Juvenile

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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

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

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

Interventional clinical trials:

Cochrane evidence based reviews: retinoschisis

Genetic Tests for Retinoschisis 1, X-Linked, Juvenile

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

Anatomical Context for Retinoschisis 1, X-Linked, Juvenile

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

Publications for Retinoschisis 1, X-Linked, Juvenile

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

Genes for Retinoschisis 1, X-Linked, Juvenile

Genes related to Retinoschisis 1, X-Linked, Juvenile (1 elite genes):

Variations for Retinoschisis 1, X-Linked, Juvenile

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

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

Expression for Retinoschisis 1, X-Linked, Juvenile

Pathways for Retinoschisis 1, X-Linked, Juvenile

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

GO Terms for Retinoschisis 1, X-Linked, Juvenile

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

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

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

Sources for Retinoschisis 1, X-Linked, Juvenile