RP
MCID: RTN008
MIFTS: 80

Retinitis Pigmentosa (RP) malady

Categories: Rare diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa

Aliases & Descriptions for Retinitis Pigmentosa:

Name: Retinitis Pigmentosa 38 12 50 24 25 56 54 66 52 42 14 69
Rod-Cone Dystrophy 50 25 66
Rp 50 25 66
Retinitis Pigmentosa 1 42 69
Retinitis Pigmentosa Autosomal Recessive 66
Pericentral Pigmentary Retinopathy 12
Non-Syndromic Retinitis Pigmentosa 66
Retinitis Pigmentosa Syndrome 29
Tapetoretinal Degeneration 25
Pigmentary Retinopathy 25
Cone Rod Dystrophy 56
Rhyns Syndrome 69
Arrp 66
Rcd 66

Characteristics:

Orphanet epidemiological data:

56
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;

Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:10584
ICD10 33 H35.52
NCIt 47 C85045
SNOMED-CT 64 155113002 28835009
Orphanet 56 ORPHA791 ORPHA1872
ICD10 via Orphanet 34 H35.5
MESH via Orphanet 43 D012174
UMLS via Orphanet 70 C0035334
MedGen 40 C0035334
OMIM 54 268000

Summaries for Retinitis Pigmentosa

OMIM : 54 Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive... (268000) more...

MalaCards based summary : Retinitis Pigmentosa, also known as rod-cone dystrophy, is related to retinitis pigmentosa 19 and retinitis pigmentosa 34, 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 Metabolism of fat-soluble vitamins. 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 Decreased shRNA abundance (Z-score < -2) and nervous 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 : 25 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 : 50 retinitis pigmentosa (rp) is a group of inherited eye 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 : 66 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.

Wikipedia : 71 Retinitis pigmentosa (RP) is an inherited, degenerative eye disease that causes severe vision impairment... more...

Related Diseases for Retinitis Pigmentosa

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 59 Retinitis Pigmentosa 20
Retinitis Pigmentosa 19 Retinitis Pigmentosa 32
Retinitis Pigmentosa 18 Retinitis Pigmentosa 35
Retinitis Pigmentosa-12, Autosomal Recessive Retinitis Pigmentosa 67
Retinitis Pigmentosa 39 Retinitis Pigmentosa 58
Retinitis Pigmentosa 54 Retinitis Pigmentosa 71
Retinitis Pigmentosa 28 Retinitis Pigmentosa 33
Retinitis Pigmentosa 38 Retinitis Pigmentosa 26
Retinitis Pigmentosa 47 Retinitis Pigmentosa 55
Retinitis Pigmentosa 56 Retinitis Pigmentosa 4, Autosomal Dominant or Recessive
Retinitis Pigmentosa 61 Retinitis Pigmentosa 68
Retinitis Pigmentosa-40 Retinitis Pigmentosa 41
Retinitis Pigmentosa 49 Retinitis Pigmentosa 29
Retinitis Pigmentosa 43 Retinitis Pigmentosa 62
Retinitis Pigmentosa 14 Retinitis Pigmentosa 48
Retinitis Pigmentosa 25 Retinitis Pigmentosa 63
Retinitis Pigmentosa 42 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa 73
Retinitis Pigmentosa 1 Retinitis Pigmentosa 31
Retinitis Pigmentosa 70 Retinitis Pigmentosa 66
Retinitis Pigmentosa 44 Retinitis Pigmentosa 72
Retinitis Pigmentosa-50 Retinitis Pigmentosa 27
Retinitis Pigmentosa 51 Retinitis Pigmentosa 37
Retinitis Pigmentosa 22 Retinitis Pigmentosa 45
Retinitis Pigmentosa 74 Retinitis Pigmentosa 13
Retinitis Pigmentosa 36 Retinitis Pigmentosa 17
Retinitis Pigmentosa 30 Retinitis Pigmentosa 57
Retinitis Pigmentosa 11 Retinitis Pigmentosa 46
Retinitis Pigmentosa 69 Retinitis Pigmentosa 60
Retinitis Pigmentosa 23 Retinitis Pigmentosa 3
Retinitis Pigmentosa 2 Retinitis Pigmentosa 24
Retinitis Pigmentosa 34 Retinitis Pigmentosa 75
Late-Adult Onset Retinitis Pigmentosa Nonsyndromic Retinitis Pigmentosa
Bbs2-Related Retinitis Pigmentosa Abca4-Related Retinitis Pigmentosa
Agbl5-Related Retinitis Pigmentosa Aipl1-Related Retinitis Pigmentosa
Arl2bp-Related Retinitis Pigmentosa Arl6-Related Retinitis Pigmentosa
Best1-Related Retinitis Pigmentosa C2orf71-Related Retinitis Pigmentosa
C8orf37-Related Retinitis Pigmentosa Ca4-Related Retinitis Pigmentosa
Cerkl-Related Retinitis Pigmentosa Clrn1-Related Retinitis Pigmentosa
Cnga1-Related Retinitis Pigmentosa Cngb1-Related Retinitis Pigmentosa
Crb1-Related Retinitis Pigmentosa Crx-Related Retinitis Pigmentosa
Dhdds-Related Retinitis Pigmentosa Eys-Related Retinitis Pigmentosa
Fam161a-Related Retinitis Pigmentosa Fscn2-Related Retinitis Pigmentosa
Guca1b-Related Retinitis Pigmentosa Idh3b-Related Retinitis Pigmentosa
Impdh1-Related Retinitis Pigmentosa Impg2-Related Retinitis Pigmentosa
Kiz-Related Retinitis Pigmentosa Klhl7-Related Retinitis Pigmentosa
Lrat-Related Retinitis Pigmentosa Mak-Related Retinitis Pigmentosa
Mertk-Related Retinitis Pigmentosa Nr2e3-Related Retinitis Pigmentosa
Nrl-Related Retinitis Pigmentosa Ofd1-Related Retinitis Pigmentosa
Pde6a-Related Retinitis Pigmentosa Pde6b-Related Retinitis Pigmentosa
Pde6g-Related Retinitis Pigmentosa Prcd-Related Retinitis Pigmentosa
Prom1-Related Retinitis Pigmentosa Prpf3-Related Retinitis Pigmentosa
Prpf31-Related Retinitis Pigmentosa Prpf4-Related Retinitis Pigmentosa
Prpf6-Related Retinitis Pigmentosa Prpf8-Related Retinitis Pigmentosa
Prph2-Related Retinitis Pigmentosa Rbp3-Related Retinitis Pigmentosa
Rdh12-Related Retinitis Pigmentosa Rgr-Related Retinitis Pigmentosa
Rho-Related Retinitis Pigmentosa Rom1-Related Retinitis Pigmentosa
Rp1-Related Retinitis Pigmentosa Rp2-Related Retinitis Pigmentosa
Rp9-Related Retinitis Pigmentosa Rpe65-Related Retinitis Pigmentosa
Rpgr-Related Retinitis Pigmentosa Sag-Related Retinitis Pigmentosa
Sema4a-Related Retinitis Pigmentosa Slc7a14-Related Retinitis Pigmentosa
Snrnp200-Related Retinitis Pigmentosa Spata7-Related Retinitis Pigmentosa
Topors-Related Retinitis Pigmentosa Ttc8-Related Retinitis Pigmentosa
Tulp1-Related Retinitis Pigmentosa Ush2a-Related Retinitis Pigmentosa
Znf513-Related Retinitis Pigmentosa Retinitis Pigmentosa 76
Retinitis Pigmentosa 77

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

(show top 50) (show all 432)
id Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 19 34.2 ABCA4 CRX RHO ROM1
2 retinitis pigmentosa 34 34.0 ABCA4 RHO RPE65
3 vitreoretinochoroidopathy 33.2 ABCA4 BEST1 PRPH2 ROM1
4 cone-rod dystrophy 3 31.8 ABCA4 PDE6B
5 newfoundland rod-cone dystrophy 12.6
6 retinitis pigmentosa 3 12.4
7 retinitis pigmentosa 2 12.3
8 retinitis pigmentosa 9 12.3
9 retinitis pigmentosa 1 12.3
10 retinitis pigmentosa 17 12.3
11 retinitis pigmentosa 28 12.3
12 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 12.2
13 neuropathy, ataxia, and retinitis pigmentosa 12.2
14 retinitis pigmentosa 7 and digenic 12.2
15 ataxia, posterior column, with retinitis pigmentosa 12.2
16 retinitis pigmentosa 38 12.2
17 retinitis pigmentosa 11 12.2
18 retinitis pigmentosa 14 12.2
19 retinitis pigmentosa 67 12.2
20 retinitis pigmentosa 69 12.2
21 retinitis pigmentosa 25 12.2
22 retinitis pigmentosa 4, autosomal dominant or recessive 12.2
23 retinitis pigmentosa 20 12.2
24 retinitis pigmentosa 13 12.2
25 retinitis pigmentosa 18 12.2
26 retinitis pigmentosa 33 12.2
27 retinitis pigmentosa 41 12.2
28 retinitis pigmentosa 36 12.2
29 retinitis pigmentosa 35 12.2
30 retinitis pigmentosa 31 12.2
31 retinitis pigmentosa 26 12.2
32 retinitis pigmentosa 30 12.2
33 retinitis pigmentosa 47 12.2
34 retinitis pigmentosa 55 12.2
35 retinitis pigmentosa 42 12.2
36 retinitis pigmentosa 27 12.2
37 retinitis pigmentosa 45 12.2
38 retinitis pigmentosa 59 12.2
39 retinitis pigmentosa 10 12.2
40 retinitis pigmentosa 44 12.2
41 retinitis pigmentosa 58 12.2
42 retinitis pigmentosa 46 12.2
43 retinitis pigmentosa 43 12.2
44 retinitis pigmentosa 62 12.2
45 retinitis pigmentosa 51 12.2
46 retinitis pigmentosa 60 12.2
47 retinitis pigmentosa 23 12.2
48 retinitis pigmentosa 48 12.2
49 retinitis pigmentosa 49 12.2
50 retinitis pigmentosa 75 12.1

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



Diseases related to Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa

Symptoms by clinical synopsis from OMIM:

268000

Clinical features from OMIM:

268000

Human phenotypes related to Retinitis Pigmentosa:

56 32 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000613
2 ophthalmoplegia 56 32 Frequent (79-30%) HP:0000602
3 obesity 56 32 Frequent (79-30%) HP:0001513
4 nystagmus 56 32 Very frequent (99-80%) HP:0000639
5 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
6 hyperreflexia 56 32 Occasional (29-5%) HP:0001347
7 cataract 56 32 Frequent (79-30%) HP:0000518
8 type ii diabetes mellitus 56 32 Occasional (29-5%) HP:0005978
9 wide nasal bridge 56 32 Very frequent (99-80%) HP:0000431
10 sensorineural hearing impairment 56 32 Very frequent (99-80%) HP:0000407
11 anteverted nares 56 32 Very frequent (99-80%) HP:0000463
12 optic atrophy 56 32 Very frequent (99-80%) HP:0000648
13 abnormality of retinal pigmentation 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0007703
14 blindness 56 32 Very frequent (99-80%) HP:0000618
15 abnormal electroretinogram 56 32 Very frequent (99-80%) HP:0000512
16 hyperinsulinemia 56 32 Frequent (79-30%) HP:0000842
17 atypical scarring of skin 56 32 Very frequent (99-80%) HP:0000987
18 abnormality of the retinal vasculature 56 32 Very frequent (99-80%) HP:0008046
19 hypogonadism 56 32 Very frequent (99-80%) HP:0000135
20 glaucoma 56 32 Frequent (79-30%) HP:0000501
21 abnormality of the testis 56 32 Very frequent (99-80%) HP:0000035
22 conductive hearing impairment 56 32 Very frequent (99-80%) HP:0000405
23 hypoplasia of penis 56 32 Very frequent (99-80%) HP:0008736
24 keratoconus 56 32 Frequent (79-30%) HP:0000563
25 progressive night blindness 56 32 Very frequent (99-80%) HP:0007675
26 visual impairment 56 Very frequent (99-80%),Occasional (29-5%)
27 night blindness 56 Very frequent (99-80%)
28 abnormality of color vision 56 Frequent (79-30%)
29 rod-cone dystrophy 32 HP:0000510
30 constriction of peripheral visual field 32 HP:0001133
31 nyctalopia 32 HP:0000662

GenomeRNAi Phenotypes related to Retinitis Pigmentosa according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.36 EYS
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.36 PDE6B
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.36 EYS
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.36 PDE6B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.36 PDE6B
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.36 PDE6B
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.36 PDE6B
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.36 TOPORS
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-94 9.36 EYS PDE6B TOPORS

MGI Mouse Phenotypes related to Retinitis Pigmentosa:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10 ABCA4 C2orf71 CRB1 CRX PDE6B PRPH2
2 cardiovascular system MP:0005385 9.91 ABCA4 CRX PDE6B PRPH2 RHO ROM1
3 pigmentation MP:0001186 9.7 ABCA4 BEST1 C2orf71 CRB1 CRX PDE6B
4 vision/eye MP:0005391 9.5 USH2A ABCA4 BEST1 C2orf71 CRB1 CRX

Drugs & Therapeutics for Retinitis Pigmentosa

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

(show top 50) (show all 115)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lutein Approved, Nutraceutical Phase 3,Phase 1,Phase 2 127-40-2 6433159 5368396
2
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 11103-57-4, 68-26-8 445354
3
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
4 Antioxidants Phase 3,Phase 2,Phase 1
5 Bone Density Conservation Agents Phase 3
6 Micronutrients Phase 3,Phase 2,Phase 1,Early Phase 1
7 Protective Agents Phase 3,Phase 2,Phase 1
8 Retinol palmitate Phase 3,Phase 1
9 Trace Elements Phase 3,Phase 2,Phase 1,Early Phase 1
10 vitamin d Phase 3
11 Vitamins Phase 3,Phase 2,Phase 1,Early Phase 1
12 Tocopherols Phase 3
13 Tocotrienols Phase 3
14 Antihypertensive Agents Phase 3,Phase 1,Phase 2
15 Carotenoids Phase 2, Phase 3,Phase 1
16 Isopropyl unoprostone Phase 3
17 retinol Nutraceutical Phase 3,Phase 1
18 Tocopherol Nutraceutical Phase 3
19 Tocotrienol Nutraceutical Phase 3
20 Beta Carotene Nutraceutical Phase 2, Phase 3,Phase 1
21
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
22
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
23
Ciprofloxacin Approved, Investigational Phase 2,Phase 1 85721-33-1 2764
24
Povidone-iodine Approved Phase 2,Phase 1 25655-41-8
25
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
26
Minocycline Approved, Investigational Phase 1, Phase 2 10118-90-8 5281021
27
Carbidopa Approved Phase 2 28860-95-9 34359 38101
28
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
29
Levodopa Approved Phase 2 59-92-7 6047
30
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
31
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
32 Autonomic Agents Phase 1, Phase 2
33 Mitogens Phase 1, Phase 2
34 Nasal Decongestants Phase 1, Phase 2
35 Ophthalmic Solutions Phase 1, Phase 2
36 Peripheral Nervous System Agents Phase 1, Phase 2
37 Pharmaceutical Solutions Phase 1, Phase 2
38 Respiratory System Agents Phase 1, Phase 2
39 Tetrahydrozoline Phase 1, Phase 2
40 Vasoconstrictor Agents Phase 1, Phase 2
41 Anti-Infective Agents Phase 1, Phase 2
42 cadexomer iodine Phase 2,Phase 1
43
Iodine Phase 2,Phase 1 7553-56-2 807
44 Povidone Phase 2,Phase 1
45 Proxymetacaine Phase 2,Phase 1
46 Anticonvulsants Phase 2
47 Antimanic Agents Phase 2
48 Central Nervous System Depressants Phase 2
49 GABA Agents Phase 2
50 Neurotransmitter Agents Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 127)
id Name Status NCT ID Phase
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
3 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3
4 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3
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
7 Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa Terminated NCT01786395 Phase 3
8 Clinical Study to Evaluate Safety and Efficacy of BMMNC in Retinitis Pigmentosa Unknown status NCT01914913 Phase 1, Phase 2
9 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
10 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
11 Trial of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01233609 Phase 2
12 A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa Completed NCT00447993 Phase 2
13 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
14 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2
15 A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa Completed NCT00447980 Phase 2
16 Study of Oral Minocycline in Treating Bilateral Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2
17 DHA and X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2
18 An Exploratory Study to Evaluate the Safety of Brimonidine Intravitreal Implant in Patients With Retinitis Pigmentosa Completed NCT00661479 Phase 1, Phase 2
19 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2
20 Feasibility Study of a Chronic Retinal Stimulator in Retinitis Pigmentosa Completed NCT00279500 Phase 1, Phase 2
21 Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa Recruiting NCT02837640 Phase 2
22 Cone Rescue in Retinitis Pigmentosa by the Treatment of Lycium Barbarum Recruiting NCT02244996 Phase 2
23 Safety and Tolerability of hRPC in Retinitis Pigmentosa Recruiting NCT02464436 Phase 1, Phase 2
24 A Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Recruiting NCT03116113 Phase 1, Phase 2
25 RST-001 Phase I/II Trial for Retinitis Pigmentosa Recruiting NCT02556736 Phase 1, Phase 2
26 Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
27 Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa Recruiting NCT03073733 Phase 2
28 Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström Syndrome Recruiting NCT02739217 Phase 2
29 Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study Active, not recruiting NCT02661711 Phase 2
30 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
31 Safety of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Retinitis Pigmentosa Active, not recruiting NCT02320812 Phase 1, Phase 2
32 Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema Active, not recruiting NCT02609165 Phase 2
33 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
34 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Active, not recruiting NCT02709876 Phase 1, Phase 2
35 Argus® II Retinal Stimulation System Feasibility Protocol Active, not recruiting NCT00407602 Phase 2
36 Gene Therapy for Blindness Caused by Choroideremia Active, not recruiting NCT01461213 Phase 1, Phase 2
37 Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study Enrolling by invitation NCT02804360 Phase 2
38 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
39 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
40 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
41 Feasibility and Safety of Adult Human Bone Marrow-derived Mesenchymal Stem Cells by Intravitreal Injection in Patients With Retinitis Pigmentosa Unknown status NCT01531348 Phase 1
42 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01068561 Phase 1
43 Acupuncture for the Treatment of Vision Loss Due to Retinitis Pigmentosa Completed NCT01604356 Phase 1
44 Clinical Trial of Intravitreal Injection of Autologous Bone Marrow Stem Cells in Patients With Retinitis Pigmentosa Completed NCT02280135 Phase 1
45 Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa Completed NCT00065455 Phase 1
46 Oral QLT091001 in Retinitis Pigmentosa (RP) Subjects With an Autosomal Dominant Mutation in Retinal Pigment Epithelial 65 Protein (RPE65) Completed NCT01543906 Phase 1
47 Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye Completed NCT00063765 Phase 1
48 Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01) Completed NCT01521793 Phase 1
49 Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Mutations Completed NCT01014052 Phase 1
50 The FIGHT-RP1 Study Recruiting NCT03063021 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:

id Genetic test Affiliating Genes
1 Retinitis Pigmentosa 29 24 ZNF513

Anatomical Context for Retinitis Pigmentosa

MalaCards organs/tissues related to Retinitis Pigmentosa:

39
Retina, Bone, Eye, Testes, Skin, Testis, Kidney
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Retinitis Pigmentosa:
id 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 1415)
id Title Authors Year
1
A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa. ( 28453362 )
2017
2
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. ( 28412069 )
2017
3
Identification of a disease-causing mutation in a Chinese patient with retinitis pigmentosa by targeted next-generation sequencing. ( 28430325 )
2017
4
Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa. ( 28419563 )
2017
5
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa. ( 28056120 )
2017
6
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
7
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families. ( 28512305 )
2017
8
Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation. ( 27768226 )
2017
9
Type 3 Neovascularization Associated with Retinitis Pigmentosa. ( 28512428 )
2017
10
Opposing Effects of Valproic Acid Treatment Mediated by Histone Deacetylase Inhibitor Activity in Four Transgenic X. laevis Models of Retinitis Pigmentosa. ( 28490005 )
2017
11
Retinal pigmentary changes in chronic uveitis mimicking retinitis pigmentosa. ( 28523457 )
2017
12
A novel MERTK mutation causing retinitis pigmentosa. ( 28462455 )
2017
13
Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention. ( 27913439 )
2017
14
Four-year nationwide incidence of retinitis pigmentosa in South Korea: a population-based retrospective study from 2011 to 2014. ( 28490561 )
2017
15
Mathematical models of retinitis pigmentosa: The oxygen toxicity hypothesis. ( 28483568 )
2017
16
High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa. ( 28045043 )
2017
17
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families. ( 28076437 )
2017
18
Low dose clozapine controls adult-onset psychosis associated with the neurogenic ataxia-retinitis pigmentosa (NARP) mutation. ( 28003964 )
2017
19
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
20
Risk Factors for Posterior Subcapsular Cataract in Retinitis Pigmentosa. ( 28492871 )
2017
21
Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish. ( 28209709 )
2017
22
Optical Coherence Tomography Angiography to Estimate Retinal Blood Flow in Eyes with Retinitis Pigmentosa. ( 28406171 )
2017
23
Posterior microphthalmos, retinitis pigmentosa and optic disc drusen with white dots. A case report. ( 28511857 )
2017
24
A Nine-Year Follow-Up of Macular Complications in Retinitis Pigmentosa and Diabetes Mellitus. ( 28419400 )
2017
25
Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients. ( 28456785 )
2017
26
Seeing through their eyes: lived experiences of people with retinitis pigmentosa. ( 28085147 )
2017
27
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa. ( 28442542 )
2017
28
Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa. ( 28053051 )
2017
29
Genetic rescue models refute nonautonomous rod cell death in retinitis pigmentosa. ( 28468800 )
2017
30
ERG and other discriminators between advanced hydroxychloroquine retinopathy and retinitis pigmentosa. ( 28451987 )
2017
31
Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7. ( 27176872 )
2016
32
Alterations in glutamate cysteine ligase content in the retina of two retinitis pigmentosa animal models. ( 27140233 )
2016
33
Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia. ( 26740549 )
2016
34
Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations. ( 27911705 )
2016
35
Substantial modifications to retinal architecture occur prior to photoreceptor cell loss in the rd10 mouse model of retinitis pigmentosa. ( 27160072 )
2016
36
Inner segment ellipsoid band length is a prognostic factor in retinitis pigmentosa associated with EYS mutations: 5-year observation of retinal structure. ( 27564720 )
2016
37
A case of hyperhomocysteinemia with retinitis pigmentosa - A rare presentation. ( 27728730 )
2016
38
Course of Ocular Function in PRPF31 Retinitis Pigmentosa. ( 26959129 )
2016
39
Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa. ( 27081294 )
2016
40
A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies. ( 27564722 )
2016
41
Subtenon triamcinolone for cystoid macular edema due to retinitis pigmentosa unresponsive to oral acetazolamide. ( 27521675 )
2016
42
Wide-Field Fundus Autofluorescence for Retinitis Pigmentosa and Cone/Cone-Rod Dystrophy. ( 26427426 )
2016
43
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. ( 27392078 )
2016
44
Retinitis Pigmentosa Mutations in Bad Response to Refrigeration 2 (Brr2) Impair ATPase and Helicase Activity. ( 27072132 )
2016
45
Relative Difficulties of Daily Living Tasks with Retinitis Pigmentosa. ( 28033161 )
2016
46
A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa. ( 27122965 )
2016
47
Association Between Aqueous Flare and Epiretinal Membrane in Retinitis Pigmentosa. ( 27548902 )
2016
48
Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases. ( 26910043 )
2016
49
Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa. ( 26781568 )
2016
50
Clinical presentation and visual status of retinitis pigmentosa patients: a multicenter study in southwestern Nigeria. ( 27601870 )
2016

Variations for Retinitis Pigmentosa

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

66
id 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 117)
id Gene Variation Type Significance SNP ID Assembly Location
1 RDH12 NM_152443.2(RDH12): c.377C> T (p.Ala126Val) single nucleotide variant Pathogenic rs202126574 GRCh37 Chromosome 14, 68192801: 68192801
2 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic rs80338903 GRCh37 Chromosome 1, 216420437: 216420437
3 USH2A NM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly) single nucleotide variant Pathogenic rs80338904 GRCh37 Chromosome 1, 215844427: 215844427
4 UNC119 NM_005148.3(UNC119): c.169A> T (p.Lys57Ter) single nucleotide variant Pathogenic rs267607166 GRCh37 Chromosome 17, 26879407: 26879407
5 RP1 NM_006269.1(RP1): c.2029C> T (p.Arg677Ter) single nucleotide variant Pathogenic rs104894082 GRCh37 Chromosome 8, 55538471: 55538471
6 RP1 NM_006269.1(RP1): c.2285_2289delTAAAT (p.Leu762Tyrfs) deletion Pathogenic rs869320726 GRCh38 Chromosome 8, 54626167: 54626171
7 RP1 NM_006269.1(RP1): c.2287_2290delAATA (p.Asn763Leufs) deletion Pathogenic rs869320727 GRCh37 Chromosome 8, 55538729: 55538732
8 RP1 NM_006269.1(RP1): c.2035C> T (p.Gln679Ter) single nucleotide variant Pathogenic rs104894083 GRCh37 Chromosome 8, 55538477: 55538477
9 RP1 NM_006269.1(RP1): c.1458_1461dupTGAA (p.Glu488Terfs) duplication Pathogenic rs869320728 GRCh37 Chromosome 8, 55537900: 55537903
10 TULP1 NM_003322.5(TULP1): c.1145T> C (p.Phe382Ser) single nucleotide variant Pathogenic rs121909076 GRCh37 Chromosome 6, 35471593: 35471593
11 RHO NM_000539.3(RHO): c.403C> T (p.Arg135Trp) single nucleotide variant Pathogenic rs104893775 GRCh37 Chromosome 3, 129249760: 129249760
12 RHO NM_000539.3(RHO): c.44A> G (p.Asn15Ser) single nucleotide variant Pathogenic rs104893786 GRCh37 Chromosome 3, 129247620: 129247620
13 PDE6B NM_000283.3(PDE6B): c.1669C> T (p.His557Tyr) single nucleotide variant Pathogenic rs121918581 GRCh37 Chromosome 4, 655977: 655977
14 RPE65 NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp) single nucleotide variant Pathogenic rs121917745 GRCh37 Chromosome 1, 68895518: 68895518
15 USH2A NM_206933.2(USH2A): c.8559-2A> G single nucleotide variant Pathogenic rs397518039 GRCh37 Chromosome 1, 216051224: 216051224
16 RP1 NM_006269.1(RP1): c.5019T> G (p.Tyr1673Ter) single nucleotide variant Pathogenic rs398124220 GRCh37 Chromosome 8, 55541461: 55541461
17 PRPH2 NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg) single nucleotide variant Pathogenic rs61755817 GRCh37 Chromosome 6, 42672195: 42672195
18 RPGR NM_000328.2(RPGR): c.469+1G> A single nucleotide variant Likely pathogenic rs62638646 GRCh37 Chromosome X, 38178081: 38178081
19 RPE65 NM_000329.2(RPE65): c.118G> A (p.Gly40Ser) single nucleotide variant Pathogenic rs61751281 GRCh37 Chromosome 1, 68912520: 68912520
20 MYO7A NM_000260.3(MYO7A): c.1667G> T (p.Gly556Val) single nucleotide variant Likely pathogenic rs527236085 GRCh38 Chromosome 11, 77162965: 77162965
21 PDE6B NM_000283.3(PDE6B): c.1467+1G> C single nucleotide variant Pathogenic rs527236089 GRCh37 Chromosome 4, 652807: 652807
22 PDE6B NM_000283.3(PDE6B): c.1576G> A (p.Glu526Lys) single nucleotide variant Likely pathogenic rs527236091 GRCh37 Chromosome 4, 654364: 654364
23 PDE6B NM_000283.3(PDE6B): c.1604T> A (p.Ile535Asn) single nucleotide variant Pathogenic rs527236088 GRCh37 Chromosome 4, 654392: 654392
24 PDE6B NM_000283.3(PDE6B): c.993-1G> C single nucleotide variant Likely pathogenic rs527236090 GRCh37 Chromosome 4, 649728: 649728
25 PRPH2 NM_000322.4(PRPH2): c.410G> A (p.Gly137Asp) single nucleotide variant Pathogenic rs527236097 GRCh37 Chromosome 6, 42689663: 42689663
26 PRPH2 NM_000322.4(PRPH2): c.499G> A (p.Gly167Ser) single nucleotide variant Pathogenic/Likely pathogenic rs527236098 GRCh37 Chromosome 6, 42689574: 42689574
27 ROM1 NM_000327.3(ROM1): c.331dupG (p.Leu114Alafs) duplication Pathogenic rs527236104 GRCh38 Chromosome 11, 62613612: 62613612
28 RHO NM_000539.3(RHO): c.180C> A (p.Tyr60Ter) single nucleotide variant Likely pathogenic rs527236101 GRCh37 Chromosome 3, 129247756: 129247756
29 RHO NM_000539.3(RHO): c.520G> A (p.Gly174Ser) single nucleotide variant Pathogenic rs527236103 GRCh37 Chromosome 3, 129249877: 129249877
30 RHO NM_000539.3(RHO): c.562G> A (p.Gly188Arg) single nucleotide variant Pathogenic rs527236100 GRCh37 Chromosome 3, 129251125: 129251125
31 RHO NM_000539.3(RHO): c.977_980delACCC (p.Pro327Trpfs) deletion Likely pathogenic rs527236102 GRCh37 Chromosome 3, 129252491: 129252494
32 CRX NM_000554.5(CRX): c.193G> C (p.Asp65His) single nucleotide variant Pathogenic rs527236062 GRCh38 Chromosome 19, 47836335: 47836335
33 CRX NM_000554.5(CRX): c.897G> C (p.Leu299Phe) single nucleotide variant Likely pathogenic rs527236063 GRCh38 Chromosome 19, 47839964: 47839964
34 C2orf71 NM_001029883.2(C2orf71): c.2126delG (p.Gly709Glufs) deletion Likely pathogenic rs527236055 GRCh37 Chromosome 2, 29295002: 29295002
35 C2orf71 NM_001029883.2(C2orf71): c.2988dupC (p.Thr997Hisfs) duplication Likely pathogenic rs527236056 GRCh37 Chromosome 2, 29294140: 29294140
36 RPGR NM_001034853.1(RPGR): c.1087_1088insGTAG (p.Val363Glyfs) insertion Likely pathogenic rs527236109 GRCh37 Chromosome X, 38158366: 38158367
37 RPGR NM_001034853.1(RPGR): c.1981G> T (p.Glu661Ter) single nucleotide variant Likely pathogenic rs527236108 GRCh37 Chromosome X, 38146271: 38146271
38 RPGR NM_000328.2(RPGR): c.894_895delTT (p.Ser298Argfs) deletion Likely pathogenic rs527236111 GRCh37 Chromosome X, 38163927: 38163928
39 RPGR NM_001034853.1(RPGR): c.922G> C (p.Ala308Pro) single nucleotide variant Likely pathogenic rs527236112 GRCh37 Chromosome X, 38163900: 38163900
40 PRCD NM_001077620.2(PRCD): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs527236092 GRCh37 Chromosome 17, 74536225: 74536225
41 CNGA1 NM_001142564.1(CNGA1): c.1046G> A (p.Arg349His) single nucleotide variant Likely pathogenic rs375412499 GRCh37 Chromosome 4, 47939672: 47939672
42 CNGA1 NM_001142564.1(CNGA1): c.1196A> G (p.Asp399Gly) single nucleotide variant Likely pathogenic rs527236059 GRCh37 Chromosome 4, 47939522: 47939522
43 CNGA1 NM_001142564.1(CNGA1): c.1840G> A (p.Gly614Ser) single nucleotide variant Likely pathogenic rs527236057 GRCh37 Chromosome 4, 47938878: 47938878
44 CNGA1 NM_001142564.1(CNGA1): c.398delG (p.Gly133Valfs) deletion Likely pathogenic rs527236058 GRCh37 Chromosome 4, 47953415: 47953415
45 EYS NM_001142800.1(EYS): c.1345A> T (p.Lys449Ter) single nucleotide variant Likely pathogenic rs527236077 GRCh37 Chromosome 6, 66063465: 66063465
46 EYS NM_001142800.1(EYS): c.1750G> T (p.Glu584Ter) single nucleotide variant Likely pathogenic rs527236072 GRCh37 Chromosome 6, 66044889: 66044889
47 EYS NM_001142800.1(EYS): c.4387delA (p.Arg1463Glyfs) deletion Likely pathogenic rs527236075 GRCh37 Chromosome 6, 65301373: 65301373
48 EYS NM_001142800.1(EYS): c.4402_4403insTCAAGAGG (p.Asp1468Valfs) insertion Likely pathogenic rs527236073 GRCh37 Chromosome 6, 65301357: 65301358
49 EYS NM_001142800.1(EYS): c.4957dupA (p.Ser1653Lysfs) duplication Pathogenic rs527236065 GRCh38 Chromosome 6, 64590910: 64590910
50 EYS NM_001142800.1(EYS): c.5014C> T (p.Gln1672Ter) single nucleotide variant Likely pathogenic rs527236074 GRCh37 Chromosome 6, 65300746: 65300746

Copy number variations for Retinitis Pigmentosa from CNVD:

7
id 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

GO Terms for Retinitis Pigmentosa

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

id Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.71 C2orf71 RP1 RPGR TULP1
2 ciliary basal body GO:0036064 9.61 RPGR TOPORS USH2A
3 photoreceptor connecting cilium GO:0032391 9.5 RP1 TOPORS USH2A
4 photoreceptor outer segment membrane GO:0042622 9.37 RHO ROM1
5 photoreceptor inner segment GO:0001917 9.35 C2orf71 RHO RP1 TULP1 USH2A
6 photoreceptor disc membrane GO:0097381 9.33 ABCA4 PDE6B RHO
7 photoreceptor inner segment membrane GO:0060342 9.26 RDH12 RHO
8 photoreceptor outer segment GO:0001750 9.23 ABCA4 C2orf71 PRCD PRPH2 RHO RP1

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.89 ABCA4 BEST1 C2orf71 CRX EYS IMPG2
2 retinoid metabolic process GO:0001523 9.76 ABCA4 RDH12 RHO RPE65
3 retina development in camera-type eye GO:0060041 9.73 PDE6B PRPH2 RHO RP1 RPE65 TULP1
4 detection of light stimulus involved in visual perception GO:0050908 9.67 BEST1 EYS RPE65 TULP1
5 photoreceptor cell maintenance GO:0045494 9.63 ABCA4 RDH12 RHO RP1 TULP1 USH2A
6 phototransduction, visible light GO:0007603 9.62 ABCA4 PDE6B RHO RP1
7 retina morphogenesis in camera-type eye GO:0060042 9.61 ROM1 RP1 RPE65
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.58 PDE6B RHO
9 response to light stimulus GO:0009416 9.58 RHO RPE65
10 photoreceptor cell outer segment organization GO:0035845 9.58 C2orf71 RP1 TOPORS
11 eye photoreceptor cell development GO:0042462 9.57 CRB1 TULP1
12 sensory perception of light stimulus GO:0050953 9.56 RHO USH2A
13 rhodopsin mediated signaling pathway GO:0016056 9.55 PDE6B RHO
14 retinal rod cell development GO:0046548 9.54 RP1 TOPORS
15 retinal cone cell development GO:0046549 9.52 RP1 TOPORS
16 protein localization to photoreceptor outer segment GO:1903546 9.51 C2orf71 TULP1
17 cellular response to light stimulus GO:0071482 9.49 RHO RP1
18 detection of light stimulus GO:0009583 9.48 PDE6B RHO
19 response to stimulus GO:0050896 9.47 ABCA4 BEST1 C2orf71 CRX EYS PDE6B

Sources for Retinitis Pigmentosa

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