RP
MCID: RTN008
MIFTS: 79

Retinitis Pigmentosa (RP)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa

MalaCards integrated aliases for Retinitis Pigmentosa:

Name: Retinitis Pigmentosa 56 12 74 52 25 58 73 36 29 54 6 43 15 37 39 39 71
Rp 56 52 25 73
Rod-Cone Dystrophy 25 73 6
Autosomal Recessive Retinitis Pigmentosa 29 6
Pigmentary Retinopathy 25 6
Retinitis Pigmentosa, Autosomal Recessive 39
Retinitis Pigmentosa Autosomal Recessive 73
Pericentral Pigmentary Retinopathy 12
Non-Syndromic Retinitis Pigmentosa 73
Tapetoretinal Degeneration 25
Retinitis Pigmentosa 1 71
Arrp 73
Rcd 73

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM:

56
Inheritance:
autosomal recessive most frequent, autosomal dominant next, and x-linked recessive least frequent



Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:10584
OMIM 56 268000
KEGG 36 H00527
NCIt 49 C85045
SNOMED-CT 67 28835009
ICD10 32 H35.52
MESH via Orphanet 44 D012174
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C0035334
Orphanet 58 ORPHA791
MedGen 41 C0035334
UMLS 71 C0035334 C0220701

Summaries for Retinitis Pigmentosa

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. The first sign of retinitis pigmentosa is usually a loss of night vision, which becomes apparent in childhood. Problems with night vision can make it difficult to navigate in low light. Later, the disease causes blind spots to develop in the side (peripheral) vision. Over time, these blind spots merge to produce tunnel vision. The disease progresses over years or decades to affect central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In adulthood, many people with retinitis pigmentosa become legally blind. The signs and symptoms of retinitis pigmentosa are most often limited to vision loss. When the disorder occurs by itself, it is described as nonsyndromic. Researchers have identified several major types of nonsyndromic retinitis pigmentosa, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. Less commonly, retinitis pigmentosa occurs as part of syndromes that affect other organs and tissues in the body. These forms of the disease are described as syndromic. The most common form of syndromic retinitis pigmentosa is Usher syndrome, which is characterized by the combination of vision loss and hearing loss beginning early in life. Retinitis pigmentosa is also a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa (NARP).

MalaCards based summary : Retinitis Pigmentosa, also known as rp, is related to usher syndrome and retinitis pigmentosa 1. 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 Sodium citrate and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include Eye, and related phenotypes are intellectual disability and wide nasal bridge

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.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases characterized by progressive peripheral vision loss and night vision difficulties. RP can be divided into syndromic (40 %) and non-syndromic (60 %) forms. The most frequent forms of syndromic RP are Usher syndrome and Bardet-Biedl syndrome. Mutations in more than 50 genes are known to cause non-syndromic RP. Non-syndromic RP can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

UniProtKB/Swiss-Prot : 73 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.
Retinitis pigmentosa autosomal recessive: 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 : 74 Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include... more...

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 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Nonsyndromic Retinitis Pigmentosa

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

(show top 50) (show all 1148)
# Related Disease Score Top Affiliating Genes
1 usher syndrome 37.8 USH2A TULP1 RPGR RPE65 RHO PRPH2
2 retinitis pigmentosa 1 37.0 RPGR RP1 RHO PRPH2 PDE6G PDE6A
3 cone-rod dystrophy 2 36.7 USH2A TULP1 RPGR RPE65 RHO PRPH2
4 bardet-biedl syndrome 36.5 USH2A TULP1 RPGR RPE65 RHO PRPH2
5 retinitis 36.5 USH2A RPGR RPE65 RP2 RP1 RHO
6 fundus dystrophy 36.4 USH2A TULP1 RPGR RPE65 RP2 RP1
7 retinitis pigmentosa 7 36.2 TULP1 RPGR PRPH2 PDE6A
8 retinitis pigmentosa 31 36.1 RPGR PRPF31 PRPF3 C8orf37
9 retinitis pigmentosa 3 36.1 RPGR RP2 ABCA4
10 usher syndrome, type i 36.1 USH2A RPGR RPE65 RHO PDE6B CRX
11 inherited retinal disorder 36.0 USH2A TULP1 RPGR RPE65 RP2 RP1
12 retinal disease 36.0 USH2A TULP1 RPGR RPE65 RP2 RHO
13 leber plus disease 36.0 USH2A TULP1 RPGR RPE65 RP2 RHO
14 retinitis pigmentosa 4 36.0 RPGR RP2 RHO
15 retinitis pigmentosa 19 35.9 RPGR PRPH2 ABCA4
16 retinitis pigmentosa 13 35.9 RPGR PRPF31 PRPF3
17 retinitis pigmentosa 39 35.9 USH2A RPGR PDE6G
18 retinitis pigmentosa 40 35.9 RPGR PRPF31 PDE6B
19 leber congenital amaurosis 4 35.8 TULP1 RPE65 PRPH2 PDE6A CRX CRB1
20 retinal degeneration 35.7 USH2A TULP1 RPGR RPE65 RP2 RP1
21 cone-rod dystrophy 6 35.7 RPGR RPE65 PRPH2 PDE6G PDE6B PDE6A
22 retinitis pigmentosa 57 35.7 PDE6G C8orf37
23 retinitis pigmentosa 43 35.6 RPGR PDE6A
24 retinitis pigmentosa 45 35.6 TULP1 CNGA1
25 retinitis pigmentosa 33 35.6 PRPF31 PRPF3
26 retinitis pigmentosa 55 35.6 RPGR C8orf37
27 retinitis pigmentosa 14 35.6 TULP1 RPGR
28 usher syndrome, type iiia 35.6 USH2A TULP1 RPE65 PRPF31 PRPF3 PDE6B
29 usher syndrome type 2 35.5 USH2A TULP1 RPGR RPE65 RHO PDE6B
30 retinitis pigmentosa 34 35.5 RPGR CRX
31 retinitis pigmentosa 20 35.5 RPGR RPE65
32 retinitis pigmentosa 63 35.5 PRPF31 C8orf37
33 senior-loken syndrome 1 35.5 USH2A TULP1 RPGR RPE65 RHO PRPH2
34 retinitis pigmentosa 25 35.5 RPGR EYS
35 retinitis pigmentosa 12 35.4 RPGR CRB1
36 retinitis pigmentosa 29 35.4 PDE6A CNGA1
37 nonsyndromic retinitis pigmentosa 35.3 USH2A CLRN1 ABCA4
38 retinitis pigmentosa 61 35.3 CLRN1 C8orf37
39 retinitis pigmentosa 28 35.2 RPGR CRX
40 late-onset retinal degeneration 35.2 USH2A RPGR RPE65 RHO PRPH2 PRPF31
41 leber congenital amaurosis 3 35.2 TULP1 RPE65 CRX CRB1
42 stargardt disease 34.8 USH2A TULP1 RPGR RPE65 RHO PRPH2
43 congenital stationary night blindness 34.8 USH2A TULP1 RPGR RPE65 RHO PRPH2
44 night blindness 34.3 USH2A RPGR RPE65 RP2 RHO PRPH2
45 bietti crystalline corneoretinal dystrophy 34.2 RPGR RPE65 CLRN1 ABCA4
46 eye disease 34.2 USH2A RPGR RPE65 RHO PRPH2 PRPF31
47 macular degeneration, age-related, 1 34.2 USH2A RPGR RPE65 RHO PRPH2 PRPF31
48 yemenite deaf-blind hypopigmentation syndrome 34.1 USH2A RPGR RPE65 RHO CRB1 ABCA4
49 achromatopsia 34.0 USH2A TULP1 RPGR RPE65 RHO PRPH2
50 fundus albipunctatus 33.9 TULP1 RPGR RPE65 RHO PRPH2 PDE6B

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



Diseases related to Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa

Human phenotypes related to Retinitis Pigmentosa:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
3 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
4 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
5 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
6 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
7 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
8 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
9 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
10 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
11 atypical scarring of skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000987
12 abnormal testis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000035
13 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
14 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
15 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
16 progressive night blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007675
17 abnormal retinal vascular morphology 31 hallmark (90%) HP:0008046
18 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
19 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
20 hyperinsulinemia 58 31 frequent (33%) Frequent (79-30%) HP:0000842
21 ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000602
22 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
23 keratoconus 58 31 frequent (33%) Frequent (79-30%) HP:0000563
24 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
25 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
26 visual impairment 58 Very frequent (99-80%)
27 abnormality of the retinal vasculature 58 Very frequent (99-80%)
28 nyctalopia 31 HP:0000662
29 rod-cone dystrophy 31 HP:0000510
30 constriction of peripheral visual field 31 HP:0001133
31 abnormality of fundus pigmentation 31 HP:0031605

Symptoms via clinical synopsis from OMIM:

56
Eyes:
night blindness
retinitis pigmentosa
constricted visual fields
fundal pigment lumps

Clinical features from OMIM:

268000

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

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.53 RPGR
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.53 EYS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-12 9.53 PDE6G
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-125 9.53 PDE6G
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.53 RPGR
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 9.53 PDE6G
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.53 CRX
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.53 PDE6G
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.53 PDE6G
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-6 9.53 PDE6G
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.53 RPGR
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.53 PDE6G
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 9.53 CRX
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-94 9.53 EYS
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.53 CRX RPGR

MGI Mouse Phenotypes related to Retinitis Pigmentosa:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 ABCA4 C8orf37 CLRN1 CRB1 CRX PDE6A
2 cardiovascular system MP:0005385 9.96 ABCA4 CRB1 CRX PDE6A PDE6B PRPH2
3 pigmentation MP:0001186 9.7 ABCA4 CRB1 CRX PDE6B PRPF3 PRPF31
4 vision/eye MP:0005391 9.58 ABCA4 C8orf37 CLRN1 CRB1 CRX PDE6A

Drugs & Therapeutics for Retinitis Pigmentosa

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

(show top 50) (show all 127)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Ranibizumab Approved Phase 4 347396-82-1 459903
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
4 Citrate Phase 4
5 Sildenafil Citrate Phase 4 171599-83-0
6 Phosphodiesterase Inhibitors Phase 4
7 Phosphodiesterase 5 Inhibitors Phase 4
8 Vasodilator Agents Phase 4
9 Immunoglobulins Phase 4
10 Antibodies Phase 4
11 Angiogenesis Inhibitors Phase 4
12 Vardenafil Dihydrochloride Phase 4
13
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
14
Lutein Approved, Investigational, Nutraceutical Phase 3 127-40-2 6433159
15
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
16
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
17
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
18 Tocotrienol Investigational Phase 3 6829-55-6
19 Trace Elements Phase 3
20 Vitamins Phase 3
21 Nutrients Phase 3
22 Micronutrients Phase 3
23 Calciferol Phase 3
24 Tocotrienols Phase 3
25 Tocopherols Phase 3
26 Pharmaceutical Solutions Phase 2, Phase 3
27 Retinol palmitate Phase 2, Phase 3
28 retinol Phase 2, Phase 3
29 Lecithin Phase 2, Phase 3
30 Antihypertensive Agents Phase 3
31 Isopropyl unoprostone Phase 3
32
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
33
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
34
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
35
Ciprofloxacin Approved, Investigational Phase 2 85721-33-1 2764
36
Iodine Approved, Investigational Phase 2 7553-56-2 807
37
Povidone Approved Phase 2 9003-39-8
38
Povidone-iodine Approved Phase 2 25655-41-8
39
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
40
Brinzolamide Approved Phase 2 138890-62-7 68844
41
Levodopa Approved Phase 2 59-92-7 6047
42
Carbidopa Approved Phase 2 28860-95-9 34359
43
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
44
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
45
Hydroxychloroquine Approved Phase 1, Phase 2 118-42-3 3652
46
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
47
Beta carotene Approved, Nutraceutical Phase 1, Phase 2 7235-40-7
48 Hormones Phase 2
49 Antineoplastic Agents, Hormonal Phase 2
50 Hormone Antagonists Phase 2

Interventional clinical trials:

(show top 50) (show all 197)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized, 3-arm Parallel Trial to Evaluate the Safety and Clinical Effectiveness of 2 Lower Dose Combined PDE5i's vs. Single Maximal Dose PDE5i Treatment Unknown status NCT00498680 Phase 4 Sildenafil, Vardenafil;Sildenafil;Vardenafil;Sildenafil & Vardenafil
2 Role of Capsular Tension Ring in Anterior Capsular Contraction in Retinitis Pigmentosa Patients Completed NCT00717080 Phase 4
3 Correlation of Functional and Structural Outcomes With Serum Antibody Profiles in Patients With Neovascular Age-related Macular Degeneration Treated With Ranibizumab and Healthy Subjects: A Prospective, Controlled Monocenter Trial Completed NCT02843490 Phase 4 Ranibizumab
4 An Integrated Approach With Vardenafil Orodispersible and Cognitive-behavioral Sex Therapy for the Treatment of Erectile Dysfunction (STEDOV) Completed NCT02450188 Phase 4 Vardenafil
5 Randomized Clinical Trial for Retinitis Pigmentosa Completed NCT00346333 Phase 3 Lutein
6 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3 Vitamin E;Vitamin A
7 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3 Vitamin A;Nutritional Supplement
8 Management of Retinitis Pigmentosa by Wharton's Jelly Derived Mesenchymal Stem Cells: Preliminary Clinical Results Completed NCT04224207 Phase 3
9 A Dose Escalation (Phase 1), and Dose Expansion (Phase 2/3) Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Using an Adeno-Associated Viral Vector (AAV8) Encoding Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03116113 Phase 2, Phase 3
10 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Patients With Retinitis Pigmentosa Recruiting NCT01680510 Phase 2, Phase 3
11 A Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver the Gene for Human RPE65 to the Retinal Pigment Epithelium (RPE) [AAV2-hRPE65v2-301] Active, not recruiting NCT00999609 Phase 3
12 Safety and Efficacy of Zuretinol Acetate Oral Solution in Subjects With Inherited Retinal Disease Caused by Mutations in Retinal Pigment Epithelium Protein 65 or Lecithin:Retinol Acyltransferase Not yet recruiting NCT04311112 Phase 2, Phase 3 Placebos;ZA Low dose;ZA high dose
13 Phase III Clinical Study of UF-021 for Retinitis Pigmentosa - Evaluation for a Comparative Double Masked Placebo Controlled Study Period and a Continuous Administration Period Terminated NCT01786395 Phase 3 UF-021;Placebo
14 Argus® II Retinal Stimulation System Feasibility Protocol Unknown status NCT00407602 Phase 2
15 An Open Labeled Clinical Study to Evaluate the Safety and Efficacy OF Autologous Bone Marrow Derived Mono Nuclear Stem Cell (BMMNCs) in Retinitis Pigmentosa. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01914913 Phase 1, Phase 2
16 Prospective Non-randomised Exploratory Study to Assess the Safety and Efficacy of Aflibercept (Eylea) in Cystoid Macular Oedema (CMO) Associated With Retinitis Pigmentosa (RP) Unknown status NCT02661711 Phase 2 Aflibercept
17 Dexamethasone in Retinitis Pigmentosa Cystoid Macular Edema Unknown status NCT02804360 Phase 2
18 A 24 Week Phase Ib/II, Multicenter, Randomized, Controlled, Parallel Group, Dose Ranging Study With a 24 Week Follow-up to Evaluate Safety and Potential Efficacy of 2 Doses (60, 180 µg/ml) of rhNGF Solution vs Vehicle in Patients With RP. Completed NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
19 An Open Label Dose Escalation Phase 1 Clinical Trial of Retinal Gene Therapy for Choroideraemia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1) Completed NCT01461213 Phase 1, Phase 2 rAAV2.REP1
20 Nerve Growth Factor Eye Drops as a Novel Treatment for Vision Loss in Patients With Retinitis Pigmentosa: From Preclinical to Clinical Phase II Trial Completed NCT02609165 Phase 2 rhNGF 180 µg/ml eye drops solution;vehicle eye drops
21 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
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 A Phase II Multiple Site, Randomized, Placebo-Controlled Trial of Oral Valproic Acid for Autosomal Dominant Retinitis Pigmentosa Completed NCT01233609 Phase 2 Valproic Acid;Placebo
24 A Prospective, Multicenter, Open-Label, Single-Arm Study of the Safety and Tolerability of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa (RP) Completed NCT02320812 Phase 1, Phase 2
25 A Phase II/III Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Visual Acuity as the Primary Outcome Completed NCT00447993 Phase 2 NT-501;NT-501
26 A Phase II/III Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Visual Field Sensitivity as the Primary Outcome Completed NCT00447980 Phase 2 NT-501;NT-501
27 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
28 Phase 2 Study Of Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
29 Safety Issues of Peribulbar Injection of Umbilical Cord Mesenchymal Stem Cell (UC-MSC) in Patients With Retinitis Pigmentosa Completed NCT04315025 Phase 1, Phase 2
30 Investigation of Effectiveness and Safety of High Dose Docosahexaenoic Acid (DHA) in X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2 docosahexaenoic acid OR corn/soy oil placebo
31 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2 Lutein (10 or 30 mg/day) capsules
32 Pilot Study to Evaluate Oral Minocycline in the Treatment of Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
33 Efficacy and Safety of Intravitreal Ranibizumab (Lucentis®) Injection in the Treatment of Non-leaking Macular Cysts in Patients With Retinal Dystrophy. Completed NCT03763227 Phase 2 Intravitreal ranibizumab (IVR) injection;Carbonic Anhydrase Inhibitor (CAI) therapy
34 A Phase 1/2a, Open-Label, Non-Randomized, Dose-Escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa Recruiting NCT03326336 Phase 1, Phase 2
35 The Effect of L-Dopa on the Progression of Retinitis Pigmentosa Recruiting NCT02837640 Phase 2 levodopa-carbidopa
36 Phase 1/2, Safety and Efficacy Trial of BS01, a Recombinant Adeno-Associated Virus Vector Expressing ChronosFP in Patients With Retinitis Pigmentosa Recruiting NCT04278131 Phase 1, Phase 2 BS01
37 First-in-human Phase I/IIa, Open-Label, Prospective Study of the Safety and Tolerability of Subretinally Transplanted Human Retinal Progenitor Cells (hRPC) in Patients With Retinitis Pigmentosa (RP) Recruiting NCT02464436 Phase 1, Phase 2 hRPC
38 The Efficacy and Safety of Oral Minocycline in the Treatment of Retinitis Pigmentosa: An Open-label Clinical Trial Recruiting NCT04068207 Phase 2 Minocycline
39 An Open-label First-in-human Single Ascending Dose Study to Explore Safety, Tolerability and Efficacy of Subretinal Administration of CPK850 Gene Therapy in Patients With Retinitis Pigmentosa Due to Mutations in the Retinaldehyde Binding Protein 1 (RLBP1) Gene Recruiting NCT03374657 Phase 1, Phase 2
40 STREAM: A Phase 1/2, Open-label, Safety, Tolerability and Preliminary Efficacy Study of Implantation Into One Eye of hESC-derived RPE in Patients With Retinitis Pigmentosa Due to Monogenic Mutation Recruiting NCT03963154 Phase 1, Phase 2
41 A First-in-Human Study to Evaluate the Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene Recruiting NCT03780257 Phase 1, Phase 2 QR-421a
42 Safety and Efficacy of a Unilateral Subretinal Administration of HORA-PDE6B in Patients With Retinitis Pigmentosa Harbouring Mutations in the PDE6B Gene Leading to a Defect in PDE6ß Expression Recruiting NCT03328130 Phase 1, Phase 2
43 An Open-Label Dose Escalation Study to Evaluate the Safety and Efficacy of AGTC-501 (rAAV2tYF-GRK1-RPGR) in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations Recruiting NCT03316560 Phase 1, Phase 2
44 Oral Hydroxychloroquine for Retinitis Pigmentosa Caused by P23H-RHO (Substitution of Proline to Histidine at Codon 23 of the Rhodopsin Protein) Recruiting NCT04120883 Phase 1, Phase 2 Hydroxychloroquine lower dose;Hydroxychloroquine higher dose
45 A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene Recruiting NCT04123626 Phase 1, Phase 2 QR-1123
46 Sildenafil for Treatment of Choroidal Ischemia Recruiting NCT04356716 Phase 2 Sildenafil
47 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
48 Phase I/IIa, Open-Label, Dose-Escalation Study of Safety and Tolerability of Intravitreal RST-001 in Patients With Advanced Retinitis Pigmentosa (RP) Active, not recruiting NCT02556736 Phase 1, Phase 2 RST-001
49 An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2-.RPGR) for Gene Therapy of Adults and Children With X-linked Retinitis Pigmentosa Owing to Defects in Retinitis Pigmentosa GTPase Regulator (RPGR) Active, not recruiting NCT03252847 Phase 1, Phase 2
50 Photoreceptor Structure in A Phase 2 Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Rates of Change in Cone Spacing and Density Active, not recruiting NCT01530659 Phase 2 NT-501

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 29 AIPL1 ARL6 C8orf37 CLRN1 CNGA1 CRX LRAT PDE6G RBP3 ROM1
2 Autosomal Recessive Retinitis Pigmentosa 29

Anatomical Context for Retinitis Pigmentosa

MalaCards organs/tissues related to Retinitis Pigmentosa:

40
Retina, Eye, Bone, Testes, Brain, Bone Marrow, Skin
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 Affected by disease, potential therapeutic candidate
2 Eye Outer Nuclear Layer Mature L Cone Cells Affected by disease, potential therapeutic candidate
3 Eye Outer Nuclear Layer Mature M Cone Cells Affected by disease, potential therapeutic candidate
4 Eye Outer Nuclear Layer Mature M-S Cone Cells Affected by disease, potential therapeutic candidate
5 Eye Retinal Pigmented Epithelium Mature Retinal Pigmented Epithelium Cells Affected by disease, potential therapeutic candidate
6 Eye Outer Nuclear Layer Mature Rod Cells Affected by disease, potential therapeutic candidate
7 Eye Outer Nuclear Layer Mature S Cone Cells Affected by disease, potential therapeutic candidate
8 Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells Affected by disease, potential therapeutic candidate
9 Eye Outer Nuclear Layer Rod Precursor Cells Affected by disease, potential therapeutic candidate

Publications for Retinitis Pigmentosa

Articles related to Retinitis Pigmentosa:

(show top 50) (show all 8120)
# Title Authors PMID Year
1
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. 56 6 54 61
10932196 2000
2
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. 6 56 61
17564971 2007
3
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. 56 6 61
15557452 2004
4
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 6 56 61
9326941 1997
5
Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. 61 6 56
1783394 1991
6
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. 54 61 6
20300561 2010
7
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. 61 6 54
19074801 2009
8
Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa. 61 54 6
18412284 2008
9
The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3. 61 54 56
18376416 2008
10
Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex. 54 6 61
17932117 2008
11
Identification and characterization of a novel RPGR isoform in human retina. 6 54 61
17405150 2007
12
Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa. 6 61 54
17652713 2007
13
Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. 6 54 61
17620573 2007
14
Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity. 6 61 54
17335001 2007
15
A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. 54 61 6
17480003 2007
16
Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa. 54 6 61
17325180 2007
17
The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals. 6 54 61
17251446 2007
18
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. 61 6 54
17296898 2007
19
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. 54 61 6
16708387 2006
20
Genome-wide identification of pseudogenes capable of disease-causing gene conversion. 6 54 61
16671097 2006
21
A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. 54 6 61
16543197 2006
22
A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy. 6 54 61
16387007 2006
23
Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. 6 54 61
16280978 2005
24
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. 61 6 54
15851576 2005
25
Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies. 54 61 6
15452722 2005
26
Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa. 54 61 6
15509574 2005
27
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. 61 54 6
15563508 2005
28
PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor. 6 54 61
15474994 2004
29
Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H. 61 54 6
14769795 2004
30
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. 54 6 61
15090652 2004
31
Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism? 61 54 6
15032968 2004
32
Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene. 61 6 54
14609921 2003
33
Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. 54 61 6
12796249 2003
34
Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice. 61 54 6
11875049 2002
35
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. 61 6 54
11875050 2002
36
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. 6 54 61
11773002 2002
37
Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. 6 61 54
11527955 2001
38
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). 61 6 54
11545739 2001
39
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. 61 54 6
11462235 2001
40
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. 61 6 54
11389483 2001
41
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. 61 54 56
11139241 2001
42
Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15. 54 6 61
10970770 2000
43
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. 54 61 56
10958648 2000
44
X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. 54 61 6
10937588 2000
45
Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane. 61 54 6
10942419 2000
46
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. 6 54 61
10775529 2000
47
Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. 6 54 61
10581022 1999
48
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. 6 54 61
10482958 1999
49
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. 6 54 61
10401007 1999
50
A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. 6 54 61
10401003 1999

Variations for Retinitis Pigmentosa

ClinVar genetic disease variations for Retinitis Pigmentosa:

6 (show top 50) (show all 4682) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FAM161A NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)SNV Pathogenic 36 rs200691042 2:62066830-62066830 2:61839695-61839695
2 FAM161A NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs)deletion Pathogenic 37 rs397704718 2:62066783-62066784 2:61839648-61839649
3 FAM161A NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)SNV Pathogenic 38 rs202193201 2:62066572-62066572 2:61839437-61839437
4 PCARE NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter)SNV Pathogenic 104 rs267606691 2:29296572-29296572 2:29073706-29073706
5 PCARE NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs)deletion Pathogenic 105 rs794728002 2:29294360-29294372 2:29071494-29071506
6 KLHL7 NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)SNV Pathogenic 1009 rs137853113 7:23180403-23180403 7:23140784-23140784
7 BBS10 NM_024685.4(BBS10):c.271dup (p.Cys91fs)duplication Pathogenic 1328 rs549625604 12:76741493-76741494 12:76347713-76347714
8 CEP290 NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)SNV Pathogenic 1333 rs137852832 12:88471040-88471040 12:88077263-88077263
9 CEP290 NM_025114.4(CEP290):c.2991+1655A>GSNV Pathogenic 1337 rs281865192 12:88494960-88494960 12:88101183-88101183
10 RDH12 NM_152443.3(RDH12):c.806_810del (p.Ala269fs)deletion Pathogenic 2047 rs386834261 14:68196054-68196058 14:67729337-67729341
11 RDH12 NM_152443.3(RDH12):c.379G>T (p.Gly127Ter)SNV Pathogenic 2051 rs104894474 14:68192803-68192803 14:67726086-67726086
12 RDH12 NM_152443.3(RDH12):c.451C>G (p.His151Asp)SNV Pathogenic 2054 rs104894475 14:68193700-68193700 14:67726983-67726983
13 RDH12 NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)SNV Pathogenic 2055 rs28940315 14:68191923-68191923 14:67725206-67725206
14 RDH12 NM_152443.3(RDH12):c.658+1G>ASNV Pathogenic 2058 rs387906272 14:68193908-68193908 14:67727191-67727191
15 RDH12 NM_152443.3(RDH12):c.377C>T (p.Ala126Val)SNV Pathogenic 2061 rs202126574 14:68192801-68192801 14:67726084-67726084
16 USH2A NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)SNV Pathogenic 2356 rs80338902 1:216420460-216420460 1:216247118-216247118
17 USH2A NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)SNV Pathogenic 2357 rs111033364 1:215901574-215901574 1:215728232-215728232
18 USH2A NM_206933.4(USH2A):c.949C>A (p.Arg317=)SNV Pathogenic 2358 rs111033272 1:216498841-216498841 1:216325499-216325499
19 CERKL NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)SNV Pathogenic 2364 rs121909398 2:182423344-182423344 2:181558617-181558617
20 PRPF3 NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met)SNV Pathogenic 3352 rs121434241 1:150316692-150316692 1:150344216-150344216
21 CLRN1 NM_001195794.1(CLRN1):c.189C>A (p.Tyr63Ter)SNV Pathogenic 4397 rs111033267 3:150690307-150690307 3:150972520-150972520
22 IMPG2 NM_016247.4(IMPG2):c.635C>G (p.Ser212Ter)SNV Pathogenic 3546 rs267606874 3:100994538-100994538 3:101275694-101275694
23 USH1C NM_005709.3(USH1C):c.238dupC (p.Arg80Profs)duplication Pathogenic 5141 rs397515359 11:17552955-17552956 11:17531408-17531409
24 PROM1 NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter)SNV Pathogenic 5609 rs137853005 4:15995651-15995651 4:15994028-15994028
25 CRB1 NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)SNV Pathogenic 5732 rs62635654 1:197396745-197396745 1:197427615-197427615
26 CRB1 NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)SNV Pathogenic 5733 rs28939720 1:197396689-197396689 1:197427559-197427559
27 CRB1 NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)SNV Pathogenic 5736 rs137853137 1:197396856-197396856 1:197427726-197427726
28 RP1 NM_006269.2(RP1):c.2280_2284TAAAT[1] (p.Leu762fs)short repeat Pathogenic 5966 rs869320726 8:55538722-55538726 8:54626162-54626166
29 TULP1 NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser)SNV Pathogenic 7362 rs121909076 6:35471593-35471593 6:35503816-35503816
30 SNRNP200 NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu)SNV Pathogenic 7928 rs267607077 2:96953706-96953706 2:96287968-96287968
31 GUCA1A NM_000409.4(GUCA1A):c.296A>G (p.Tyr99Cys)SNV Pathogenic 9150 rs104893967 6:42146112-42146112 6:42178374-42178374
32 RP2 NM_006915.3(RP2):c.16_18del (p.Ser6del)deletion Pathogenic 10544 rs137852284 X:46696550-46696552 X:46837115-46837117
33 RP2 NM_006915.3(RP2):c.358C>T (p.Arg120Ter)SNV Pathogenic 10551 rs104894927 X:46713166-46713166 X:46853731-46853731
34 MYO7A NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)SNV Pathogenic 11859 rs35689081 11:76853829-76853829 11:77142783-77142783
35 BBS1 NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)SNV Pathogenic 12143 rs113624356 11:66293652-66293652 11:66526181-66526181
36 RHO NM_000539.3(RHO):c.533A>G (p.Tyr178Cys)SNV Pathogenic 13025 rs104893776 3:129251096-129251096 3:129532253-129532253
37 RHO NM_000539.3(RHO):c.403C>T (p.Arg135Trp)SNV Pathogenic 13028 rs104893775 3:129249760-129249760 3:129530917-129530917
38 RHO NM_000539.3(RHO):c.44A>G (p.Asn15Ser)SNV Pathogenic 13042 rs104893786 3:129247620-129247620 3:129528777-129528777
39 RHO NM_000539.3(RHO):c.511C>T (p.Pro171Ser)SNV Pathogenic 13050 rs104893794 3:129249868-129249868 3:129531025-129531025
40 RLBP1 NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)SNV Pathogenic 13100 rs28933990 15:89754025-89754025 15:89210794-89210794
41 RLBP1 NM_000326.5(RLBP1):c.677T>A (p.Met226Lys)SNV Pathogenic 13101 rs137853291 15:89754981-89754981 15:89211750-89211750
42 PDE6G NM_002602.4(PDE6G):c.187+1G>TSNV Pathogenic 13102 17:79618674-79618674 17:81651644-81651644
43 PDE6B NM_000283.3(PDE6B):c.892C>T (p.Gln298Ter)SNV Pathogenic 13103 rs121918579 4:647908-647908 4:654119-654119
44 PDE6B NM_000283.3(PDE6B):c.1669C>T (p.His557Tyr)SNV Pathogenic 13106 rs121918581 4:655977-655977 4:662188-662188
45 PDE6A NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter)SNV Pathogenic 13110 rs121918576 5:149265917-149265917 5:149886354-149886354
46 RPE65 NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)SNV Pathogenic 13115 rs61752871 1:68910541-68910541 1:68444858-68444858
47 RHO NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)SNV Pathogenic 13014 rs29001566 3:129252554-129252554 3:129533711-129533711
48 RHO NM_000539.3(RHO):c.50C>T (p.Thr17Met)SNV Pathogenic 13018 rs104893769 3:129247626-129247626 3:129528783-129528783
49 RHO NM_000539.3(RHO):c.316G>A (p.Gly106Arg)SNV Pathogenic 13038 rs104893773 3:129247892-129247892 3:129529049-129529049
50 CA4 NM_000717.5(CA4):c.40C>T (p.Arg14Trp)SNV Pathogenic 17607 rs104894559 17:58227435-58227435 17:60150074-60150074

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

73
# Symbol AA change Variation ID SNP ID
1 CLCC1 p.Asp25Glu VAR_083125 rs750180668
2 CRX p.Arg41Gln VAR_007946 rs61748436

Copy number variations for Retinitis Pigmentosa from CNVD:

7
# CNVD ID Chromosome 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 plasma membrane GO:0005886 10.21 USH2A TULP1 RPE65 RP2 RHO PDE6G
2 cell projection GO:0042995 9.92 USH2A TULP1 RPGR RP2 RP1 RHO
3 cilium GO:0005929 9.77 TULP1 RPGR RP2 RP1 EYS
4 ciliary basal body GO:0036064 9.63 USH2A RPGR RP2
5 photoreceptor disc membrane GO:0097381 9.55 RHO PDE6G PDE6B PDE6A ABCA4
6 photoreceptor inner segment GO:0001917 9.5 USH2A TULP1 RP1 RHO PRPH2 CRB1
7 photoreceptor outer segment membrane GO:0042622 9.43 RHO PDE6G CNGA1
8 periciliary membrane compartment GO:1990075 9.4 USH2A RP2
9 photoreceptor outer segment GO:0001750 9.28 TULP1 RPGR RP1 RHO PRPH2 PDE6B

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.83 USH2A TULP1 RPGR RPE65 RP1 RHO
2 photoreceptor cell maintenance GO:0045494 9.8 USH2A TULP1 RP1 RHO CRB1 CLRN1
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.77 RHO PDE6G PDE6B PDE6A CNGA1
4 retina development in camera-type eye GO:0060041 9.76 TULP1 RPE65 RP1 RHO PRPH2 PDE6B
5 detection of light stimulus involved in visual perception GO:0050908 9.73 TULP1 RPE65 EYS CRB1
6 rhodopsin mediated signaling pathway GO:0016056 9.72 RHO PDE6G PDE6B PDE6A CNGA1
7 retinoid metabolic process GO:0001523 9.71 RPE65 RHO ABCA4
8 phototransduction, visible light GO:0007603 9.71 RP1 RHO PDE6B ABCA4
9 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.7 PDE6G PDE6B PDE6A
10 cellular response to light stimulus GO:0071482 9.67 RP1 RHO CRB1
11 sensory perception of light stimulus GO:0050953 9.65 USH2A RHO CLRN1
12 retina morphogenesis in camera-type eye GO:0060042 9.63 RPE65 RP1 CRB1
13 eye photoreceptor cell development GO:0042462 9.56 TULP1 CRB1
14 photoreceptor cell outer segment organization GO:0035845 9.55 RP1 CRB1
15 visual perception GO:0007601 9.55 USH2A TULP1 RPGR RPE65 RP2 RP1
16 detection of light stimulus GO:0009583 9.51 RHO PDE6B

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 PDE6G CNGA1
2 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.13 PDE6G PDE6B PDE6A
3 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 8.8 PDE6G PDE6B PDE6A

Sources for Retinitis Pigmentosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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