MCID: RTN008
MIFTS: 81

Retinitis Pigmentosa

Categories: Rare diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa

MalaCards integrated aliases for Retinitis Pigmentosa:

Name: Retinitis Pigmentosa 53 37 12 72 72 49 24 55 71 36 28 51 41 14 69
Rp 53 49 24 71
Rod-Cone Dystrophy 49 24 71
Retinitis Pigmentosa 1 41 69
Retinitis Pigmentosa Autosomal Recessive 71
Pericentral Pigmentary Retinopathy 12
Non-Syndromic Retinitis Pigmentosa 71
Tapetoretinal Degeneration 24
Pigmentary Retinopathy 24
Cone Rod Dystrophy 55
Arrp 71
Rcd 71

Characteristics:

Orphanet epidemiological data:

55
retinitis pigmentosa
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,X-linked recessive; Prevalence: 1-5/10000 (Europe),1-5/10000 (Worldwide),1-5/10000 (Denmark),1-5/10000 (Norway),1-5/10000 (United States),1-5/10000 (United Kingdom),1-5/10000 (China),1-5/10000 (Slovenia); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;
cone rod dystrophy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive most frequent, autosomal dominant next, and x-linked recessive least frequent


Classifications:

Orphanet: 55  
Rare eye diseases


Summaries for Retinitis Pigmentosa

OMIM : 53 Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia (tritanopic; see 190900), and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients (excluding patients with Usher syndrome; see 276900). Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole (summary by Kaiser et al., 2004). (268000)

MalaCards based summary : Retinitis Pigmentosa, also known as rp, is related to rhyns syndrome and retinitis pigmentosa 1, and has symptoms including photophobia, ophthalmoplegia and obesity. An important gene associated with Retinitis Pigmentosa is CRX (Cone-Rod Homeobox), and among its related pathways/superpathways are Phototransduction and Retinol metabolism. The drugs Lutein and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are nervous system and cardiovascular system

Disease Ontology : 12 A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.

Genetics Home Reference : 24 Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.

NIH Rare Diseases : 49 Retinitis pigmentosa (RP) is a group of inheritedeye diseases that affect the light-sensitive part of the eye (retina). RP causes cells in the retina to die, causing progressive vision loss. The first sign of RP usually is night blindness. As the condition progresses, affected individuals develop tunnel vision (loss of peripheral vision), and eventually loss of central vision. RP may be caused by mutations in any of at least 50 genes. Inheritance can be autosomal dominant, autosomal recessive, or X-linked. Treatment options to slow the progression of vision loss include light avoidance, use of low-vision aids, and vitamin A supplementation. Researchers are working to develop new treatment options for the future such as gene therapy, stem cell transplantation and prosthetic implants. Last updated: 10/18/2016

UniProtKB/Swiss-Prot : 71 Retinitis pigmentosa: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

Related Diseases for Retinitis Pigmentosa

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 1 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa, Late-Adult Onset
Retinitis Pigmentosa 3 Retinitis Pigmentosa 24
Retinitis Pigmentosa 23 Retinitis Pigmentosa 34
Retinitis Pigmentosa 2 Retinitis Pigmentosa 6
Retinitis Pigmentosa 13 Retinitis Pigmentosa 12
Retinitis Pigmentosa 14 Retinitis Pigmentosa 11
Retinitis Pigmentosa 17 Retinitis Pigmentosa 18
Retinitis Pigmentosa 19 Retinitis Pigmentosa 22
Retinitis Pigmentosa 25 Retinitis Pigmentosa 28
Retinitis Pigmentosa 30 Retinitis Pigmentosa 7
Retinitis Pigmentosa 26 Retinitis Pigmentosa 32
Retinitis Pigmentosa 31 Retinitis Pigmentosa 35
Retinitis Pigmentosa 33 Retinitis Pigmentosa 36
Retinitis Pigmentosa 37 Retinitis Pigmentosa 41
Retinitis Pigmentosa 29 Retinitis Pigmentosa 46
Retinitis Pigmentosa 42 Retinitis Pigmentosa 50
Retinitis Pigmentosa 54 Retinitis Pigmentosa 51
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 57 Retinitis Pigmentosa 58
Retinitis Pigmentosa 4 Retinitis Pigmentosa 27
Retinitis Pigmentosa 49 Retinitis Pigmentosa 47
Retinitis Pigmentosa 45 Retinitis Pigmentosa 44
Retinitis Pigmentosa 20 Retinitis Pigmentosa 40
Retinitis Pigmentosa 39 Retinitis Pigmentosa 43
Retinitis Pigmentosa 48 Retinitis Pigmentosa 59
Retinitis Pigmentosa 38 Retinitis Pigmentosa 60
Retinitis Pigmentosa 61 Retinitis Pigmentosa 62
Retinitis Pigmentosa 63 Retinitis Pigmentosa 66
Retinitis Pigmentosa 67 Retinitis Pigmentosa 68
Retinitis Pigmentosa 69 Retinitis Pigmentosa 70
Retinitis Pigmentosa 71 Retinitis Pigmentosa 72
Retinitis Pigmentosa 73 Retinitis Pigmentosa 74
Retinitis Pigmentosa 75 Retinitis Pigmentosa 76
Retinitis Pigmentosa 77 Retinitis Pigmentosa 78
Retinitis Pigmentosa 79 Retinitis Pigmentosa 80
Retinitis Pigmentosa 81 Nonsyndromic Retinitis Pigmentosa

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

(show top 50) (show all 429)
# Related Disease Score Top Affiliating Genes
1 rhyns syndrome 36.1 CLRN1 CNGA1 CNGB1 CRB1 CRX EYS
2 retinitis pigmentosa 1 35.2 PRPH2 RHO RP1
3 retinitis pigmentosa 7 35.1 PRPH2 RHO ROM1
4 retinitis pigmentosa 43 35.0 PDE6A PDE6B RHO
5 retinitis pigmentosa 19 34.8 CNGA1 PDE6B
6 cone-rod dystrophy 2 34.8 CERKL CRB1 CRX PRPH2 RHO RPE65
7 retinitis pigmentosa 38 34.8 MERTK RPE65
8 leber congenital amaurosis 4 34.7 CRX PDE6A RPE65
9 retinitis pigmentosa 44 34.5 RDH12 RPGR
10 usher syndrome, type i 34.4 CLRN1 RHO USH2A
11 nonsyndromic retinitis pigmentosa 34.4 CLRN1 USH2A
12 usher syndrome 34.1 CLRN1 RPGR USH2A
13 retinitis 34.1 CERKL EYS PRPH2 RHO RP1 RPE65
14 usher syndrome, type iid 33.5 RHO RPGR USH2A
15 usher syndrome, type iic 33.4 CLRN1 CRB1 PDE6A PDE6B USH2A
16 leber congenital amaurosis 33.1 CRB1 CRX MERTK PDE6A PDE6B PRPH2
17 retinal degeneration 32.9 CRB1 CRX PDE6B PRPH2 RHO ROM1
18 stargardt disease 32.5 CRB1 EYS MERTK PRPH2 RDH12 RHO
19 retinal disease 32.3 CNGB1 CRB1 CRX PDE6B PRPH2 RDH12
20 fundus dystrophy 32.2 CERKL CRB1 CRX EYS MERTK PRPH2
21 macular degeneration, age-related, 1 32.0 CRB1 PDE6B PRPH2 RHO RPE65
22 congenital stationary night blindness 31.5 PDE6B RHO RPE65 RPGR
23 fundus albipunctatus 31.5 PDE6B PRPH2 RHO RPE65
24 achromatopsia 31.2 CNGB1 RPE65 RPGR
25 stargardt disease 1 31.1 CRX RHO ROM1
26 macular dystrophy, dominant cystoid 31.0 CRB1 PDE6A
27 newfoundland rod-cone dystrophy 12.7
28 retinitis pigmentosa 3 12.5
29 posterior column ataxia with retinitis pigmentosa 12.5
30 neuropathy, ataxia, and retinitis pigmentosa 12.5
31 retinitis pigmentosa 2 12.5
32 retinitis pigmentosa 11 12.4
33 retinitis pigmentosa 4 12.4
34 retinitis pigmentosa 9 12.4
35 retinitis pigmentosa 12 12.4
36 retinitis pigmentosa 14 12.4
37 retinitis pigmentosa 13 12.4
38 retinitis pigmentosa 25 12.4
39 retinitis pigmentosa 17 12.4
40 retinitis pigmentosa 18 12.4
41 retinitis pigmentosa 26 12.4
42 retinitis pigmentosa 28 12.4
43 retinitis pigmentosa 31 12.4
44 retinitis pigmentosa 33 12.4
45 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 12.4
46 retinitis pigmentosa 10 12.4
47 retinitis pigmentosa-deafness syndrome 12.4
48 retinitis pigmentosa 23 12.4
49 retinitis pigmentosa 27 12.4
50 retinitis pigmentosa 45 12.4

Graphical network of the top 20 diseases related to Retinitis Pigmentosa:



Diseases related to Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa

Symptoms via clinical synopsis from OMIM:

53
Eyes:
night blindness
retinitis pigmentosa
constricted visual fields
fundal pigment lumps


Clinical features from OMIM:

268000

Human phenotypes related to Retinitis Pigmentosa:

55 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000613
2 ophthalmoplegia 55 31 frequent (33%) Frequent (79-30%) HP:0000602
3 obesity 55 31 frequent (33%) Frequent (79-30%) HP:0001513
4 nystagmus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000639
5 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
6 hyperreflexia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001347
7 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
8 type ii diabetes mellitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0005978
9 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
10 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
11 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
12 visual impairment 55 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0000505
13 optic atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000648
14 abnormality of retinal pigmentation 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007703
15 blindness 55 31 hallmark (90%) Very frequent (99-80%) HP:0000618
16 abnormal electroretinogram 55 31 hallmark (90%) Very frequent (99-80%) HP:0000512
17 hyperinsulinemia 55 31 frequent (33%) Frequent (79-30%) HP:0000842
18 atypical scarring of skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000987
19 nyctalopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000662
20 abnormality of the retinal vasculature 55 31 hallmark (90%) Very frequent (99-80%) HP:0008046
21 hypogonadism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000135
22 glaucoma 55 31 frequent (33%) Frequent (79-30%) HP:0000501
23 abnormality of the testis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000035
24 conductive hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000405
25 hypoplasia of penis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008736
26 abnormality of color vision 55 31 frequent (33%) Frequent (79-30%) HP:0000551
27 keratoconus 55 31 frequent (33%) Frequent (79-30%) HP:0000563
28 progressive night blindness 55 31 hallmark (90%) Very frequent (99-80%) HP:0007675
29 rod-cone dystrophy 31 HP:0000510
30 constriction of peripheral visual field 31 HP:0001133

MGI Mouse Phenotypes related to Retinitis Pigmentosa:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.03 CLRN1 CRB1 CRX MERTK PDE6A PDE6B
2 cardiovascular system MP:0005385 9.96 RHO ROM1 RP1 RPGR SNRNP200 TULP1
3 pigmentation MP:0001186 9.61 CRB1 CRX MERTK PDE6B PRPH2 RHO
4 vision/eye MP:0005391 9.53 CERKL CLRN1 CRB1 CRX MERTK PDE6A

Drugs & Therapeutics for Retinitis Pigmentosa

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

(show top 50) (show all 116)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lutein Approved, Investigational, Nutraceutical Phase 3,Phase 1,Phase 2 127-40-2 6433159
2
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 68-26-8, 11103-57-4 445354
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
4 Tocopherol Approved, Investigational, Nutraceutical Phase 3
5
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
6
B-Carotene Approved, Nutraceutical Phase 2, Phase 3,Phase 1 7235-40-7 5280489
7 Antioxidants Phase 3,Phase 2,Phase 1
8 Bone Density Conservation Agents Phase 3
9 Micronutrients Phase 3,Phase 2,Phase 1,Early Phase 1
10 Protective Agents Phase 3,Phase 2,Phase 1
11 Retinol palmitate Phase 3,Phase 1
12 Trace Elements Phase 3,Phase 2,Phase 1,Early Phase 1
13 Vitamins Phase 3,Phase 2,Phase 1,Early Phase 1
14 Tocopherols Phase 3
15 Tocotrienols Phase 3
16 Antihypertensive Agents Phase 3,Phase 1,Phase 2
17 Carotenoids Phase 2, Phase 3,Phase 1
18 alpha-MSH Phase 2, Phase 3
19 Hormone Antagonists Phase 2, Phase 3
20 Hormones Phase 2, Phase 3
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
22 Isopropyl unoprostone Phase 3
23 retinol Nutraceutical Phase 3,Phase 1
24 Tocotrienol Investigational, Nutraceutical Phase 3 6829-55-6
25
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
26
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
27
Ciprofloxacin Approved, Investigational Phase 2,Phase 1 85721-33-1 2764
28
Iodine Approved, Investigational Phase 2,Phase 1 7553-56-2 807
29
Povidone Approved Phase 2,Phase 1 9003-39-8
30
Povidone-iodine Approved Phase 2,Phase 1 25655-41-8
31
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
32
Minocycline Approved, Investigational Phase 1, Phase 2 10118-90-8 5281021
33
Carbidopa Approved Phase 2 28860-95-9 38101 34359
34
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
35
Levodopa Approved Phase 2 59-92-7 6047
36
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
37
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
38 Autonomic Agents Phase 1, Phase 2
39 Mitogens Phase 1, Phase 2
40 Nasal Decongestants Phase 1, Phase 2
41 Ophthalmic Solutions Phase 1, Phase 2
42 Peripheral Nervous System Agents Phase 1, Phase 2
43 Pharmaceutical Solutions Phase 1, Phase 2
44 Respiratory System Agents Phase 1, Phase 2
45 Tetrahydrozoline Phase 1, Phase 2
46 Vasoconstrictor Agents Phase 1, Phase 2
47 Anti-Infective Agents Phase 1, Phase 2
48 cadexomer iodine Phase 2,Phase 1
49 Proxymetacaine Phase 2,Phase 1
50 Anticonvulsants Phase 2

Interventional clinical trials:

(show top 50) (show all 145)

# Name Status NCT ID Phase Drugs
1 The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction Completed NCT00717080 Phase 4
2 Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A Completed NCT00346333 Phase 3 Lutein
3 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3 Vitamin A;Nutritional Supplement
4 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3 Vitamin E;Vitamin A
5 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil Recruiting NCT01680510 Phase 2, Phase 3
6 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
7 Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Not yet recruiting NCT03184584 Phase 2, Phase 3 PBI-4050
8 Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa Terminated NCT01786395 Phase 3 UF-021;Placebo
9 Clinical Study to Evaluate Safety and Efficacy of BMMNC in Retinitis Pigmentosa Unknown status NCT01914913 Phase 1, Phase 2
10 A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP) Unknown status NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
11 Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström Syndrome Unknown status NCT02739217 Phase 2 PBI-4050
12 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
13 Trial of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01233609 Phase 2 Valproic Acid;Placebo
14 Study of Oral Minocycline in Treating Bilateral Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
15 A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa Completed NCT00447993 Phase 2 NT-501;NT-501
16 Safety of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Retinitis Pigmentosa Completed NCT02320812 Phase 1, Phase 2
17 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
18 A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa Completed NCT00447980 Phase 2 NT-501;NT-501
19 Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema Completed NCT02609165 Phase 2 rhNGF 180 µg/ml eye drops solution;vehicle eye drops
20 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2 Lutein (10 or 30 mg/day) capsules
21 DHA and X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2 docosahexaenoic acid OR corn/soy oil placebo
22 An Exploratory Study to Evaluate the Safety of Brimonidine Intravitreal Implant in Patients With Retinitis Pigmentosa Completed NCT00661479 Phase 1, Phase 2 400 µg Brimonidine Tartrate Implant;200 µg Brimonidine Tartrate Implant;100 µg Brimonidine Tartrate Implant
23 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
24 Feasibility Study of a Chronic Retinal Stimulator in Retinitis Pigmentosa Completed NCT00279500 Phase 1, Phase 2
25 Gene Therapy for Blindness Caused by Choroideremia Completed NCT01461213 Phase 1, Phase 2 rAAV2.REP1
26 Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa Recruiting NCT02837640 Phase 2 levodopa-carbidopa
27 Cone Rescue in Retinitis Pigmentosa by the Treatment of Lycium Barbarum Recruiting NCT02244996 Phase 2
28 Safety and Tolerability of hRPC in Retinitis Pigmentosa Recruiting NCT02464436 Phase 1, Phase 2 hRPC
29 A Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Recruiting NCT03116113 Phase 1, Phase 2
30 Gene Therapy for X-linked Retinitis Pigmentosa (XLRP) Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03252847 Phase 1, Phase 2
31 Safety and Efficacy of rAAV2tYF-GRK1-RPGR in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR-ORF15 Mutations Recruiting NCT03316560 Phase 1, Phase 2
32 Safety and Efficacy Study in Patients With Retinitis Pigmentosa Due to Mutations in PDE6B Gene Recruiting NCT03328130 Phase 1, Phase 2
33 RST-001 Phase I/II Trial for Advanced Retinitis Pigmentosa Recruiting NCT02556736 Phase 1, Phase 2 RST-001
34 Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
35 Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa Recruiting NCT03073733 Phase 2
36 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
37 Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study Active, not recruiting NCT02661711 Phase 2 Aflibercept
38 Electro-acupuncture and Transcorneal Electrical Stimulation (TES) for the Treatment of Vision Loss Due to Retinitis Pigmentosa Active, not recruiting NCT02086890 Phase 1, Phase 2
39 Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis Pigmentosa Active, not recruiting NCT01530659 Phase 2 NT-501
40 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Active, not recruiting NCT02709876 Phase 1, Phase 2
41 Argus® II Retinal Stimulation System Feasibility Protocol Active, not recruiting NCT00407602 Phase 2
42 Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study Enrolling by invitation NCT02804360 Phase 2
43 A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1B Enrolling by invitation NCT02065011 Phase 1, Phase 2 UshStat
44 Dose-escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa Not yet recruiting NCT03326336 Phase 1, Phase 2
45 A First-in-human, Proof of Concept Study of CPK850 in Patients With RLBP1 Retinitis Pigmentosa Not yet recruiting NCT03374657 Phase 1, Phase 2
46 The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa Not yet recruiting NCT02018692 Phase 1, Phase 2
47 Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Suspended NCT02338973 Phase 1, Phase 2 Interferon gamma-1b
48 Clinical Trial of Intravitreal Injection of Autologous Bone Marrow Stem Cells in Patients With Retinitis Pigmentosa Completed NCT02280135 Phase 1
49 Acupuncture for the Treatment of Vision Loss Due to Retinitis Pigmentosa Completed NCT01604356 Phase 1
50 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01068561 Phase 1

Search NIH Clinical Center for Retinitis Pigmentosa

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Retinitis Pigmentosa cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: retinitis pigmentosa

Genetic Tests for Retinitis Pigmentosa

Genetic tests related to Retinitis Pigmentosa:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 28 AIPL1 ARL6 C8orf37 CLRN1 CNGA1 CRX LRAT PDE6G RBP3 ROM1

Anatomical Context for Retinitis Pigmentosa

MalaCards organs/tissues related to Retinitis Pigmentosa:

38
Retina, Bone, Eye, Testes, Bone Marrow, Skin, Testis
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Retinitis Pigmentosa:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Outer Nuclear Layer Cone Precursor Cells Potential therapeutic candidate, affected by disease
2 Eye Outer Nuclear Layer Mature L Cone Cells Potential therapeutic candidate, affected by disease
3 Eye Outer Nuclear Layer Mature M Cone Cells Potential therapeutic candidate, affected by disease
4 Eye Outer Nuclear Layer Mature M-S Cone Cells Potential therapeutic candidate, affected by disease
5 Eye Retinal Pigmented Epithelium Mature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
6 Eye Outer Nuclear Layer Mature Rod Cells Potential therapeutic candidate, affected by disease
7 Eye Outer Nuclear Layer Mature S Cone Cells Potential therapeutic candidate, affected by disease
8 Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate, affected by disease
9 Eye Outer Nuclear Layer Rod Precursor Cells Potential therapeutic candidate, affected by disease

Publications for Retinitis Pigmentosa

Articles related to Retinitis Pigmentosa:

(show top 50) (show all 1481)
# Title Authors Year
1
Nonclinical Safety Evaluation of scAAV8-<i>RLBP1</i>for Treatment of<i>RLBP1</i>Retinitis Pigmentosa. ( 29359172 )
2018
2
A novel mutation in<i>PRPF31</i>, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer. ( 29375987 )
2018
3
Improved retinal and visual function following panmacular subthreshold diode micropulse laser for retinitis pigmentosa. ( 29449615 )
2018
4
Quantification of Macular Microvascular Changes in Patients With Retinitis Pigmentosa Using Optical Coherence Tomography Angiography. ( 29365150 )
2018
5
Concise Review: Human Induced Pluripotent Stem Cell Models of Retinitis Pigmentosa. ( 29345014 )
2018
6
Misdiagnosis of X-linked retinitis pigmentosa in a choroideremia patient with heavily pigmented fundi. ( 29377744 )
2018
7
Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa. ( 29437494 )
2018
8
Discovery of a Cynomolgus Monkey Family With Retinitis Pigmentosa. ( 29411010 )
2018
9
Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa. ( 29305715 )
2018
10
Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing. ( 29437900 )
2018
11
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. ( 29192808 )
2018
12
highroad Is a Carboxypetidase Induced by Retinoids to Clear Mutant Rhodopsin-1 in Drosophila Retinitis Pigmentosa Models. ( 29425495 )
2018
13
Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa. ( 29411205 )
2018
14
Rasagiline delays retinal degeneration in a mouse model of retinitis pigmentosa via modulation of Bax/Bcl-2 expression. ( 29372592 )
2018
15
Coping strategies, vision-related quality of life, and emotional health in managing retinitis pigmentosa: a survey study. ( 29378559 )
2018
16
Design and Development of AAV-based Gene Supplementation Therapies for Achromatopsia and Retinitis Pigmentosa. ( 29188504 )
2018
17
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa. ( 29425069 )
2018
18
HIF-1I+ stabilization reduces retinal degeneration in a mouse model of retinitis pigmentosa. ( 29295858 )
2018
19
Choroidal Vasculature in Bietti Crystalline Dystrophy With CYP4V2 Mutations and in Retinitis Pigmentosa With EYS Mutations. ( 28763560 )
2017
20
Subluxated intraocular lens secondary toA retinitis pigmentosa-associated zonulopathy: August consultation #1. ( 28917417 )
2017
21
Survival analysis of visual improvement after cataract surgery in advanced retinitis pigmentosa. ( 28776592 )
2017
22
Identification of a disease-causing mutation in a Chinese patient with retinitis pigmentosa by targeted next-generation sequencing. ( 28430325 )
2017
23
Risk Factors for Posterior Subcapsular Cataract in Retinitis Pigmentosa. ( 28492871 )
2017
24
KLHL7 promotes TUT1 ubiquitination associated with nucleolar integrity: Implications for retinitis pigmentosa. ( 29032201 )
2017
25
Retrospective Analysis of Structural Disease Progression in Retinitis Pigmentosa Utilizing Multimodal Imaging. ( 28871101 )
2017
26
Dark-Adapted Chromatic Perimetry for Measuring Rod Visual Fields in Patients with Retinitis Pigmentosa. ( 28798898 )
2017
27
Optical Coherence Tomography Angiography to Estimate Retinal Blood Flow in Eyes with Retinitis Pigmentosa. ( 28406171 )
2017
28
Improving graph-based OCT segmentation for severe pathology in Retinitis Pigmentosa patients. ( 28781413 )
2017
29
Posterior microphthalmos, retinitis pigmentosa and optic disc drusen with white dots. A case report. ( 28511857 )
2017
30
Protective effect of sulforaphane against retinal degeneration in the Pde6(rd10) mouse model of retinitis pigmentosa. ( 28937835 )
2017
31
Transcorneal electrical stimulation for the treatment of retinitis pigmentosa: results from the TESOLAUK trial. ( 29354722 )
2017
32
Absence of Sigma 1 Receptor Accelerates Photoreceptor Cell Death in a Murine Model of Retinitis Pigmentosa. ( 28877319 )
2017
33
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. ( 28763557 )
2017
34
Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention. ( 27913439 )
2017
35
Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa. ( 29111861 )
2017
36
Seeing through their eyes: lived experiences of people with retinitis pigmentosa. ( 28085147 )
2017
37
Four-year nationwide incidence of retinitis pigmentosa in South Korea: a population-based retrospective study from 2011 to 2014. ( 28490561 )
2017
38
Restoration of Cone Photoreceptor Function in Retinitis Pigmentosa. ( 28900578 )
2017
39
A Nine-Year Follow-Up of Macular Complications in Retinitis Pigmentosa and Diabetes Mellitus. ( 28419400 )
2017
40
Retinal pigmentary changes in chronic uveitis mimicking retinitis pigmentosa. ( 28523457 )
2017
41
Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data. ( 28290600 )
2017
42
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. ( 28766925 )
2017
43
Cystoid Macular Edema in Retinitis Pigmentosa with Intermediate Uveitis Responded Well to Oral and Posterior Subtenon Steroid. ( 28353369 )
2017
44
Retinitis Pigmentosa Sine Pigmento Mimicking a Chiasm Disease. ( 29344059 )
2017
45
Low dose clozapine controls adult-onset psychosis associated with the neurogenic ataxia-retinitis pigmentosa (NARP) mutation. ( 28003964 )
2017
46
The unusual association of inverse retinitis pigmentosa and Fuchs' heterochromic iridocyclitis. ( 28127443 )
2017
47
Bilateral blindness with secondary retinitis pigmentosa following postoperative docetaxel and platinum combination chemotherapy in primary small-cell carcinoma of the endometrium: An unusual case report and review of the literature. ( 28413652 )
2017
48
Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing. ( 29260190 )
2017
49
Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa. ( 28053051 )
2017
50
Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement. ( 28192796 )
2017

Variations for Retinitis Pigmentosa

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa:

71
# Symbol AA change Variation ID SNP ID
1 CRX p.Arg41Gln VAR_007946 rs61748436

ClinVar genetic disease variations for Retinitis Pigmentosa:

6 (show top 50) (show all 300)
# Gene Variation Type Significance SNP ID Assembly Location
1 SNRNP200 NM_014014.4(SNRNP200): c.3260C> T (p.Ser1087Leu) single nucleotide variant Pathogenic/Likely pathogenic rs267607077 GRCh37 Chromosome 2, 96953706: 96953706
2 GUCA1A NM_000409.4(GUCA1A): c.296A> G (p.Tyr99Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893967 GRCh37 Chromosome 6, 42146112: 42146112
3 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic/Likely pathogenic rs113624356 GRCh37 Chromosome 11, 66293652: 66293652
4 RHO NM_000539.3(RHO): c.1040C> T (p.Pro347Leu) single nucleotide variant Pathogenic/Likely pathogenic rs29001566 GRCh37 Chromosome 3, 129252554: 129252554
5 RHO NM_000539.3(RHO): c.403C> T (p.Arg135Trp) single nucleotide variant Pathogenic rs104893775 GRCh37 Chromosome 3, 129249760: 129249760
6 RHO NM_000539.3(RHO): c.158C> G (p.Pro53Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28933395 GRCh37 Chromosome 3, 129247734: 129247734
7 RHO NM_000539.3(RHO): c.568G> T (p.Asp190Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs104893779 GRCh37 Chromosome 3, 129251131: 129251131
8 RHO NM_000539.3(RHO): c.44A> G (p.Asn15Ser) single nucleotide variant Pathogenic rs104893786 GRCh37 Chromosome 3, 129247620: 129247620
9 RLBP1 NM_000326.4(RLBP1): c.677T> A (p.Met226Lys) single nucleotide variant Pathogenic/Likely pathogenic rs137853291 GRCh37 Chromosome 15, 89754981: 89754981
10 PDE6B NM_000283.3(PDE6B): c.892C> T (p.Gln298Ter) single nucleotide variant Pathogenic rs121918579 GRCh37 Chromosome 4, 647908: 647908
11 PDE6B NM_000283.3(PDE6B): c.1669C> T (p.His557Tyr) single nucleotide variant Pathogenic rs121918581 GRCh37 Chromosome 4, 655977: 655977
12 RPE65 NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp) single nucleotide variant Pathogenic rs121917745 GRCh37 Chromosome 1, 68895518: 68895518
13 ABCA4 NM_000350.2(ABCA4): c.3364G> A (p.Glu1122Lys) single nucleotide variant Pathogenic/Likely pathogenic rs61751399 GRCh37 Chromosome 1, 94506923: 94506923
14 USH2A NM_206933.2(USH2A): c.8559-2A> G single nucleotide variant Pathogenic rs397518039 GRCh37 Chromosome 1, 216051224: 216051224
15 USH2A NM_206933.2(USH2A): c.8981G> A (p.Trp2994Ter) single nucleotide variant Pathogenic rs397518041 GRCh37 Chromosome 1, 216019240: 216019240
16 USH2A NM_206933.2(USH2A): c.920_923dupGCCA (p.His308Glnfs) duplication Pathogenic rs397518043 GRCh37 Chromosome 1, 216498867: 216498870
17 COL18A1 NM_130445.3(COL18A1): c.3514_3515delCT (p.Leu1172Valfs) deletion Pathogenic/Likely pathogenic rs398122391 GRCh37 Chromosome 21, 46930005: 46930006
18 EYS NM_001142800.1(EYS): c.7095T> G (p.Tyr2365Ter) single nucleotide variant Pathogenic rs398123575 GRCh37 Chromosome 6, 64574212: 64574212
19 CNGB1 NM_001297.4(CNGB1): c.952C> T (p.Gln318Ter) single nucleotide variant Pathogenic/Likely pathogenic rs372504780 GRCh37 Chromosome 16, 57984367: 57984367
20 RP1 NM_006269.1(RP1): c.5019T> G (p.Tyr1673Ter) single nucleotide variant Pathogenic rs398124220 GRCh37 Chromosome 8, 55541461: 55541461
21 PRPH2 NM_000322.4(PRPH2): c.634A> G (p.Ser212Gly) single nucleotide variant Likely pathogenic rs61755800 GRCh37 Chromosome 6, 42672297: 42672297
22 PRPH2 NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg) single nucleotide variant Pathogenic rs61755817 GRCh37 Chromosome 6, 42672195: 42672195
23 RPGR NM_000328.2(RPGR): c.469+1G> A single nucleotide variant Likely pathogenic rs62638646 GRCh37 Chromosome X, 38178081: 38178081
24 RPE65 NM_000329.2(RPE65): c.118G> A (p.Gly40Ser) single nucleotide variant Pathogenic rs61751281 GRCh37 Chromosome 1, 68912520: 68912520
25 ABCA4 NM_000350.2(ABCA4): c.2915C> A (p.Thr972Asn) single nucleotide variant Likely pathogenic rs61749451 GRCh37 Chromosome 1, 94512478: 94512478
26 ABCA4 NM_000350.2(ABCA4): c.4537dupC (p.Gln1513Profs) duplication Pathogenic/Likely pathogenic rs281865377 GRCh37 Chromosome 1, 94495003: 94495003
27 PDE6B NM_000283.3(PDE6B): c.1576G> A (p.Glu526Lys) single nucleotide variant Likely pathogenic rs527236091 GRCh37 Chromosome 4, 654364: 654364
28 CNGA1 NM_001142564.1(CNGA1): c.1196A> G (p.Asp399Gly) single nucleotide variant Likely pathogenic rs527236059 GRCh38 Chromosome 4, 47937505: 47937505
29 EYS NM_001142800.1(EYS): c.7793G> A (p.Gly2598Asp) single nucleotide variant Pathogenic rs527236064 GRCh37 Chromosome 6, 64488004: 64488004
30 EYS NM_001142800.1(EYS): c.8805C> A (p.Tyr2935Ter) single nucleotide variant Pathogenic rs527236067 GRCh37 Chromosome 6, 64431122: 64431122
31 EYS NM_001142800.1(EYS): c.9209T> C (p.Ile3070Thr) single nucleotide variant Pathogenic rs183589498 GRCh37 Chromosome 6, 64430718: 64430718
32 EYS NM_001142800.1(EYS): c.8379_8380insTGCA (p.Glu2794Cysfs) insertion Likely pathogenic rs527236070 GRCh38 Chromosome 6, 63721651: 63721652
33 CNGA1 NM_001142564.1(CNGA1): c.1840G> A (p.Gly614Ser) single nucleotide variant Likely pathogenic rs527236057 GRCh37 Chromosome 4, 47938878: 47938878
34 CNGA1 NM_001142564.1(CNGA1): c.1046G> A (p.Arg349His) single nucleotide variant Likely pathogenic rs375412499 GRCh37 Chromosome 4, 47939672: 47939672
35 EYS NM_001142800.1(EYS): c.7048delT (p.Cys2350Alafs) deletion Likely pathogenic rs527236069 GRCh37 Chromosome 6, 64694283: 64694283
36 EYS NM_001142800.1(EYS): c.7694delA (p.Asn2565Metfs) deletion Likely pathogenic rs527236078 GRCh37 Chromosome 6, 64498027: 64498027
37 MYO7A NM_000260.3(MYO7A): c.1667G> T (p.Gly556Val) single nucleotide variant Likely pathogenic rs527236085 GRCh37 Chromosome 11, 76874011: 76874011
38 PDE6B NM_000283.3(PDE6B): c.1467+1G> C single nucleotide variant Pathogenic rs527236089 GRCh37 Chromosome 4, 652807: 652807
39 EYS NM_001142800.1(EYS): c.7919G> A (p.Trp2640Ter) single nucleotide variant Pathogenic rs527236066 GRCh37 Chromosome 6, 64472506: 64472506
40 EYS NM_001142800.1(EYS): c.8012T> A (p.Leu2671Ter) single nucleotide variant Likely pathogenic rs527236076 GRCh37 Chromosome 6, 64472413: 64472413
41 PRCD NM_001077620.2(PRCD): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs527236092 GRCh38 Chromosome 17, 76540143: 76540143
42 PDE6B NM_000283.3(PDE6B): c.1604T> A (p.Ile535Asn) single nucleotide variant Pathogenic rs527236088 GRCh37 Chromosome 4, 654392: 654392
43 PDE6B NM_000283.3(PDE6B): c.993-1G> C single nucleotide variant Likely pathogenic rs527236090 GRCh37 Chromosome 4, 649728: 649728
44 PRPH2 NM_000322.4(PRPH2): c.410G> A (p.Gly137Asp) single nucleotide variant Pathogenic rs527236097 GRCh37 Chromosome 6, 42689663: 42689663
45 PRPH2 NM_000322.4(PRPH2): c.499G> A (p.Gly167Ser) single nucleotide variant Pathogenic/Likely pathogenic rs527236098 GRCh37 Chromosome 6, 42689574: 42689574
46 ROM1 NM_000327.3(ROM1): c.331dupG (p.Leu114Alafs) duplication Pathogenic rs527236104 GRCh38 Chromosome 11, 62613612: 62613612
47 RHO NM_000539.3(RHO): c.180C> A (p.Tyr60Ter) single nucleotide variant Likely pathogenic rs527236101 GRCh37 Chromosome 3, 129247756: 129247756
48 RHO NM_000539.3(RHO): c.520G> A (p.Gly174Ser) single nucleotide variant Pathogenic rs527236103 GRCh37 Chromosome 3, 129249877: 129249877
49 RHO NM_000539.3(RHO): c.562G> A (p.Gly188Arg) single nucleotide variant Pathogenic rs527236100 GRCh37 Chromosome 3, 129251125: 129251125
50 RHO NM_000539.3(RHO): c.977_980delACCC (p.Pro327Trpfs) deletion Likely pathogenic rs527236102 GRCh37 Chromosome 3, 129252491: 129252494

Copy number variations for Retinitis Pigmentosa from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 56866 11 61700000 63400000 Gain or loss ROM1 Retinitis pigmentosa
2 132542 19 59310648 59326954 Microdeletion PRPF31 Retinitis pigmentosa
3 179965 4 1 4500000 Copy number PDE6B Retinitis pigmentosa
4 214787 6 66095891 66473839 Deletion EYS Retinitis pigmentosa
5 219465 7 127100000 129200000 Gain or loss IMPDH1 Retinitis pigmentosa

Expression for Retinitis Pigmentosa

Search GEO for disease gene expression data for Retinitis Pigmentosa.

Pathways for Retinitis Pigmentosa

Pathways related to Retinitis Pigmentosa according to KEGG:

36
# Name Kegg Source Accession
1 Phototransduction hsa04744
2 Retinol metabolism hsa00830
3 Spliceosome hsa03040
4 Terpenoid backbone biosynthesis hsa00900

GO Terms for Retinitis Pigmentosa

Cellular components related to Retinitis Pigmentosa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 9.43 PDE6A PDE6B RHO
2 photoreceptor inner segment GO:0001917 9.43 CERKL CRB1 RHO RP1 TULP1 USH2A
3 Golgi-associated vesicle membrane GO:0030660 9.37 CNGB1 RHO
4 photoreceptor outer segment membrane GO:0042622 9.33 CNGA1 RHO ROM1
5 photoreceptor inner segment membrane GO:0060342 9.32 RDH12 RHO
6 photoreceptor outer segment GO:0001750 9.28 CERKL CNGA1 CNGB1 MERTK PRPH2 RHO

Biological processes related to Retinitis Pigmentosa according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.86 CLRN1 CNGA1 CNGB1 CRX EYS PDE6A
2 retina development in camera-type eye GO:0060041 9.8 MERTK PDE6B PRPH2 RHO RP1 RPE65
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.77 CNGA1 CNGB1 PDE6A PDE6B RHO
4 retinoid metabolic process GO:0001523 9.72 RDH12 RHO RPE65
5 rhodopsin mediated signaling pathway GO:0016056 9.72 CNGA1 CNGB1 PDE6A PDE6B RHO
6 detection of light stimulus involved in visual perception GO:0050908 9.71 CNGB1 EYS RPE65 TULP1
7 retina homeostasis GO:0001895 9.7 CNGB1 RPE65 TULP1
8 photoreceptor cell maintenance GO:0045494 9.7 CLRN1 CNGB1 RDH12 RHO RP1 TULP1
9 regulation of cytosolic calcium ion concentration GO:0051480 9.69 CNGB1 PDE6A PDE6B
10 sensory perception of light stimulus GO:0050953 9.65 CLRN1 RHO USH2A
11 retina morphogenesis in camera-type eye GO:0060042 9.63 ROM1 RP1 RPE65
12 phototransduction, visible light GO:0007603 9.61 PDE6B RHO RP1
13 eye photoreceptor cell development GO:0042462 9.58 CRB1 TULP1
14 GMP metabolic process GO:0046037 9.57 PDE6A PDE6B
15 photoreceptor cell outer segment organization GO:0035845 9.56 CNGB1 RP1
16 cellular response to light stimulus GO:0071482 9.54 RHO RP1
17 detection of light stimulus GO:0009583 9.49 PDE6B RHO
18 response to stimulus GO:0050896 9.47 CLRN1 CNGA1 CNGB1 CRX EYS PDE6A

Molecular functions related to Retinitis Pigmentosa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cGMP binding GO:0030553 9.16 CNGA1 CNGB1
2 3,5-cyclic-GMP phosphodiesterase activity GO:0047555 8.96 PDE6A PDE6B
3 intracellular cyclic nucleotide activated cation channel activity GO:0005221 8.62 CNGA1 CNGB1

Sources for Retinitis Pigmentosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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