RP
MCID: RTN008
MIFTS: 79

Retinitis Pigmentosa (RP)

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

Aliases & Classifications for Retinitis Pigmentosa

MalaCards integrated aliases for Retinitis Pigmentosa:

Name: Retinitis Pigmentosa 57 12 73 20 43 58 72 36 29 54 6 44 15 37 39 70
Rp 57 20 43 72
Rod-Cone Dystrophy 43 72 6
Autosomal Recessive Retinitis Pigmentosa 29 6
Retinitis Pigmentosa, Autosomal Recessive 39
Retinitis Pigmentosa Autosomal Recessive 72
Pericentral Pigmentary Retinopathy 12
Non-Syndromic Retinitis Pigmentosa 72
Tapetoretinal Degeneration 43
Retinitis Pigmentosa 1 70
Pigmentary Retinopathy 43
Arrp 72
Rcd 72

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®:

57 (Updated 20-May-2021)
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® 57 268000
KEGG 36 H00527
NCIt 50 C85045
SNOMED-CT 67 155113002
ICD10 32 H35.52
MESH via Orphanet 45 D012174
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 71 C0035334
Orphanet 58 ORPHA791
MedGen 41 C0035334
UMLS 70 C0035334 C0220701

Summaries for Retinitis Pigmentosa

MedlinePlus Genetics : 43 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 cone-rod dystrophy 2 and usher syndrome. 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 Tocopherol and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include Eye, and related phenotypes are intellectual disability and nystagmus

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.

GARD : 20 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® : 57 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) (Updated 20-May-2021)

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 : 72 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 : 73 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
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

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

(show top 50) (show all 954)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 36.0 USH2A RPGR RP2 RP1 ROM1 RHO
2 usher syndrome 35.6 USH2A RPGR ROM1 RHO PRPH2 PRPF3
3 retinitis 35.2 USH2A RPGR RP2 RP1 ROM1 RHO
4 fundus dystrophy 35.0 USH2A RPGR RP2 RP1 ROM1 RHO
5 retinitis pigmentosa 1 34.9 RP1 ROM1 RHO PRPH2 PDE6G PDE6A
6 retinal degeneration 34.7 USH2A RPGR RP2 RP1 ROM1 RHO
7 leber plus disease 34.7 USH2A RPGR RP2 ROM1 RHO RBP3
8 retinal disease 34.6 USH2A RPGR RP2 ROM1 RHO PRPH2
9 usher syndrome, type i 34.6 USH2A RPGR ROM1 RHO IMPDH1 EYS
10 retinitis pigmentosa 25 34.4 RPGR PRPH2 PDE6G PDE6A EYS CRB1
11 bardet-biedl syndrome 34.4 USH2A RPGR ROM1 RHO PRPH2 PDE6A
12 usher syndrome, type iiia 34.4 USH2A ROM1 PRPF3 PDE6A LRAT IMPDH1
13 retinitis pigmentosa 39 34.2 USH2A RPGR PDE6G PDE6A CNGA1
14 retinitis pigmentosa 7 34.2 RPGR ROM1 PRPH2 PDE6A
15 newfoundland rod-cone dystrophy 34.1 RHO PRPH2 LRAT
16 leber congenital amaurosis 4 34.0 PDE6A LRAT IMPDH1 CRX CRB1
17 retinitis pigmentosa 4 34.0 RPGR RP2 RHO
18 retinitis pigmentosa 20 33.9 RPGR LRAT EYS
19 retinitis pigmentosa 28 33.9 RPGR CRX C8orf37
20 retinitis pigmentosa 31 33.9 RPGR PRPF3 C8orf37
21 senior-loken syndrome 1 33.9 USH2A RPGR RHO PRPH2 IMPDH1 CRX
22 usher syndrome type 2 33.8 USH2A RPGR RHO PRPH2 PDE6A EYS
23 leber congenital amaurosis 3 33.7 LRAT IMPDH1 CRX CRB1
24 retinitis pigmentosa 57 33.7 PDE6G C8orf37
25 stargardt disease 33.7 USH2A RPGR ROM1 RHO PRPH2 PRPF3
26 night blindness 33.7 USH2A RPGR RP2 RHO RBP3 PRPH2
27 retinitis pigmentosa 29 33.7 PDE6A EYS CNGA1
28 retinitis pigmentosa 55 33.6 C8orf37 ARL6
29 congenital stationary night blindness 33.5 USH2A RPGR ROM1 RHO RBP3 PRPH2
30 retinitis pigmentosa 34 33.5 RPGR CRX
31 late-onset retinal degeneration 33.5 USH2A RPGR RHO PRPH2 CRX CRB1
32 cone dystrophy 33.4 USH2A RPGR RP1 ROM1 RHO PRPH2
33 macular degeneration, age-related, 1 33.4 USH2A RPGR ROM1 RHO RBP3 PRPH2
34 retinitis pigmentosa 61 33.4 CLRN1 C8orf37
35 cone-rod dystrophy 6 33.4 RPGR PRPH2 PDE6G PDE6A
36 retinitis pigmentosa 63 33.4 CRX C8orf37
37 retinitis pigmentosa 71 33.4 USH2A C8orf37
38 eye disease 33.3 USH2A RPGR RP2 ROM1 RHO RBP3
39 nonsyndromic retinitis pigmentosa 33.2 USH2A CLRN1 ARL6
40 usher syndrome, type iic 33.1 USH2A PDE6A CLRN1
41 fundus albipunctatus 33.0 RPGR ROM1 RHO RBP3 PRPH2 LRAT
42 usher syndrome, type ij 32.9 USH2A CLRN1
43 usher syndrome, type iiib 32.9 USH2A CLRN1
44 bietti crystalline corneoretinal dystrophy 32.9 RPGR EYS CLRN1
45 hereditary retinal dystrophy 32.8 USH2A RHO PRPH2 PDE6A EYS CRX
46 usher syndrome, type iid 32.8 USH2A CLRN1
47 joubert syndrome 1 32.6 RPGR RP2 ROM1 RHO IMPDH1 CRX
48 yemenite deaf-blind hypopigmentation syndrome 32.5 USH2A RHO
49 vitelliform macular dystrophy 32.5 USH2A RPGR ROM1 RHO PRPH2 PDE6A
50 achromatopsia 32.5 USH2A RPGR RHO PRPH2 PDE6A EYS

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 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
3 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
4 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
5 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
7 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
8 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
9 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
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 retinal vascular morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0008046
13 abnormal testis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000035
14 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
15 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
16 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
17 progressive night blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007675
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 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
25 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
26 visual impairment 58 Very frequent (99-80%)
27 nyctalopia 31 HP:0000662
28 rod-cone dystrophy 31 HP:0000510
29 constriction of peripheral visual field 31 HP:0001133
30 abnormality of fundus pigmentation 31 HP:0031605

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Eyes:
night blindness
retinitis pigmentosa
constricted visual fields
fundal pigment lumps

Clinical features from OMIM®:

268000 (Updated 20-May-2021)

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 ARL6 C8orf37 CLRN1 CRB1 CRX LRAT
2 vision/eye MP:0005391 9.58 ARL6 C8orf37 CLRN1 CRB1 CRX IMPDH1
3 pigmentation MP:0001186 9.43 CRB1 CRX PRPF3 PRPH2 RHO RPGR

Drugs & Therapeutics for Retinitis Pigmentosa

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

(show top 50) (show all 107)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 3 1406-66-2
2
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 68-26-8, 11103-57-4 445354
3
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
4
Lutein Approved, Investigational, Nutraceutical Phase 3 127-40-2 5281243
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
6 Tocotrienol Investigational Phase 3 6829-55-6
7 Micronutrients Phase 3
8 Retinol palmitate Phase 3
9 Trace Elements Phase 3
10 Nutrients Phase 3
11 Antioxidants Phase 3
12 retinol Phase 3
13 Vitamins Phase 3
14 Tocotrienols Phase 3
15 Protective Agents Phase 3
16 Tocopherols Phase 3
17 Calciferol Phase 3
18 Antihypertensive Agents Phase 3
19 Isopropyl unoprostone Phase 3
20
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
21
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
22
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
23
Ciprofloxacin Approved, Investigational Phase 2 85721-33-1 2764
24
Povidone Approved Phase 2 9003-39-8 131751496
25
Povidone-iodine Approved Phase 2 25655-41-8
26
Iodine Approved, Investigational Phase 2 7553-56-2 807
27
Sodium citrate Approved, Investigational Phase 2 68-04-2
28
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
29
Levodopa Approved Phase 2 59-92-7 6047
30
Carbidopa Approved Phase 2 28860-95-9 34359
31
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
32
Hydroxychloroquine Approved Phase 1, Phase 2 118-42-3 3652
33
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
34
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
35
Beta carotene Approved, Nutraceutical Phase 1, Phase 2 7235-40-7 5280489
36
Cadexomer iodine Experimental Phase 2 94820-09-4
37 Gastrointestinal Agents Phase 2
38 Hormones Phase 2
39 Antiemetics Phase 2
40 Hormone Antagonists Phase 2
41 glucocorticoids Phase 2
42 Antineoplastic Agents, Hormonal Phase 2
43 Anti-Inflammatory Agents Phase 2
44 BB 1101 Phase 2
45 Psychotropic Drugs Phase 2
46 Anticonvulsants Phase 2
47 Omega 3 Fatty Acid Phase 2
48 Pharmaceutical Solutions Phase 1, Phase 2
49 Mitogens Phase 2
50 Ophthalmic Solutions Phase 2

Interventional clinical trials:

(show top 50) (show all 180)
# Name Status NCT ID Phase Drugs
1 Role of Capsular Tension Ring in Anterior Capsular Contraction in Retinitis Pigmentosa Patients Completed NCT00717080 Phase 4
2 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3 Vitamin E;Vitamin A
3 Management of Retinitis Pigmentosa by Wharton's Jelly Derived Mesenchymal Stem Cells: Preliminary Clinical Results Completed NCT04224207 Phase 3
4 Randomized Clinical Trial for Retinitis Pigmentosa Completed NCT00346333 Phase 3 Lutein
5 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3 Vitamin A;Nutritional Supplement
6 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
7 Cord Blood Platelet-rich Plasma (CB-PRP) in Retinitis Pigmentosa Recruiting NCT04636853 Phase 3
8 Phase 3 Randomized, Controlled Study of AAV5-RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene Not yet recruiting NCT04671433 Phase 3
9 Follow-up Phase 3 Randomized, Controlled Study of AAV5-RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene Not yet recruiting NCT04794101 Phase 3
10 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
11 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
12 Argus® II Retinal Stimulation System Feasibility Protocol Unknown status NCT00407602 Phase 2
13 Dexamethasone in Retinitis Pigmentosa Cystoid Macular Edema Unknown status NCT02804360 Phase 2
14 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
15 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 Unknown status NCT01530659 Phase 2 NT-501
16 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
17 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
18 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) Completed NCT03116113 Phase 1, Phase 2
19 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
20 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
21 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
22 Safety Issues of Peribulbar Injection of Umbilical Cord Mesenchymal Stem Cell (UC-MSC) in Patients With Retinitis Pigmentosa Completed NCT04315025 Phase 1, Phase 2
23 Phase 2 Study Of Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
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 Pilot Study to Evaluate Oral Minocycline in the Treatment of Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
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 Acuity as the Primary Outcome Completed NCT00447993 Phase 2 NT-501;NT-501
27 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
28 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
29 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
30 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2 Lutein (10 or 30 mg/day) capsules
31 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
32 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
33 An Open-label, Phase 1/2 Trial of Gene Therapy 4D-125 in Males With X-linked Retinitis Pigmentosa (XLRP) Caused by Mutations in the RPGR Gene Recruiting NCT04517149 Phase 1, Phase 2
34 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
35 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
36 The Effect of L-Dopa on the Progression of Retinitis Pigmentosa Recruiting NCT02837640 Phase 2 levodopa-carbidopa
37 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
38 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
39 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
40 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
41 Investigation of Therapeutic Efficacy and Safety of Umbilical Cord Derived Mesenchymal Stem Cells (UMSCs) for the Management of Retinitis Pigmentosa (RP) Recruiting NCT04763369 Phase 2
42 PIGMENT - PDE6A Gene Therapy for Retinitis Pigmentosa Recruiting NCT04611503 Phase 1, Phase 2 subretinal injection of rAAV.hPDE6A
43 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
44 Safety and Efficacy of NPI-001 Tablets Versus Placebo for Treatment of Retinitis Pigmentosa Associated With Usher Syndrome Recruiting NCT04355689 Phase 1, Phase 2 NPI-001
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 The Efficacy and Safety of Oral Minocycline in the Treatment of Retinitis Pigmentosa: An Open-label Clinical Trial Recruiting NCT04068207 Phase 2 Minocycline
47 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
48 Sildenafil for Treatment of Choroidal Ischemia Recruiting NCT04356716 Phase 2 Sildenafil
49 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
50 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

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 Marrow, Bone, Brain, Kidney, Pituitary
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 8699)
# Title Authors PMID Year
1
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. 54 57 6 61
11139241 2001
2
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. 61 57 6 54
10932196 2000
3
Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. 6 57 61
26261414 2015
4
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. 57 6 61
17564971 2007
5
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. 61 6 57
15557452 2004
6
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 61 57 6
9326941 1997
7
Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. 57 6 61
1783394 1991
8
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. 54 6 61
20300561 2010
9
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. 6 54 61
19074801 2009
10
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 61 54 6
19006237 2009
11
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. 61 54 6
18641288 2008
12
Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa. 61 6 54
18412284 2008
13
The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3. 57 61 54
18376416 2008
14
Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex. 54 6 61
17932117 2008
15
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray. 54 61 6
18055816 2007
16
Identification and characterization of a novel RPGR isoform in human retina. 61 54 6
17405150 2007
17
Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. 6 54 61
17620573 2007
18
A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. 61 6 54
17480003 2007
19
Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity. 6 54 61
17335001 2007
20
RPGR mutation analysis and disease: an update. 61 54 6
17195164 2007
21
Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa. 61 54 6
17325180 2007
22
The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals. 61 54 6
17251446 2007
23
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. 61 6 54
17296898 2007
24
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. 6 61 54
17085681 2006
25
Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. 61 6 54
17093403 2006
26
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. 61 54 6
16708387 2006
27
Genome-wide identification of pseudogenes capable of disease-causing gene conversion. 6 61 54
16671097 2006
28
A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. 6 61 54
16543197 2006
29
A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy. 6 54 61
16387007 2006
30
Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. 6 61 54
16280978 2005
31
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. 61 54 6
15851576 2005
32
Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies. 6 54 61
15452722 2005
33
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. 61 6 54
15563508 2005
34
Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa. 6 61 54
15509574 2005
35
CRB1 mutation spectrum in inherited retinal dystrophies. 6 61 54
15459956 2004
36
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. 54 61 6
15325563 2004
37
MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells. 54 61 6
15111602 2004
38
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. 6 54 61
15090652 2004
39
Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H. 61 54 6
14769795 2004
40
Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism? 6 54 61
15032968 2004
41
Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes. 54 61 6
14566651 2003
42
Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene. 6 54 61
14609921 2003
43
Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. 61 54 6
12796249 2003
44
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. 61 54 6
11992260 2002
45
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. 6 54 61
11875050 2002
46
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. 54 61 6
11875049 2002
47
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. 6 54 61
11773002 2002
48
Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa. 54 61 6
11754050 2001
49
Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. 54 6 61
11726554 2001
50
Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. 61 6 54
11527955 2001

Variations for Retinitis Pigmentosa

ClinVar genetic disease variations for Retinitis Pigmentosa:

6 (show top 50) (show all 8132)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FAM161A NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) SNV Pathogenic 36 rs200691042 GRCh37: 2:62066830-62066830
GRCh38: 2:61839695-61839695
2 DHDDS NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) SNV Pathogenic 30709 rs147394623 GRCh37: 1:26764719-26764719
GRCh38: 1:26438228-26438228
3 ABCA4 NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) SNV Pathogenic 7894 rs61751374 GRCh37: 1:94508969-94508969
GRCh38: 1:94043413-94043413
4 ABCA4 NM_000350.3(ABCA4):c.5461-10T>C SNV Pathogenic 92870 rs1800728 GRCh37: 1:94476951-94476951
GRCh38: 1:94011395-94011395
5 PHF3 , EYS NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) Deletion Pathogenic 550019 rs528919874 GRCh37: 6:64431272-64431279
GRCh38: 6:63721376-63721383
6 ABCA4 NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) SNV Pathogenic 7884 rs41292677 GRCh37: 1:94467548-94467548
GRCh38: 1:94001992-94001992
7 BBS2 NM_031885.4(BBS2):c.661del (p.Leu221fs) Deletion Pathogenic 208564 rs770258677 GRCh37: 16:56540088-56540088
GRCh38: 16:56506176-56506176
8 BBS2 NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) SNV Pathogenic 4570 rs121908175 GRCh37: 16:56553703-56553703
GRCh38: 16:56519791-56519791
9 NR2E3 NM_014249.4(NR2E3):c.119-2A>C SNV Pathogenic 191059 rs2723341 GRCh37: 15:72103821-72103821
GRCh38: 15:71811481-71811481
10 CNGB3 NM_019098.4(CNGB3):c.1148del (p.Thr383fs) Deletion Pathogenic 5225 rs397515360 GRCh37: 8:87656009-87656009
GRCh38: 8:86643781-86643781
11 USH1C NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) Duplication Pathogenic 5141 rs397515359 GRCh37: 11:17552955-17552956
GRCh38: 11:17531408-17531409
12 HGSNAT NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) SNV Pathogenic 549921 rs775078211 GRCh37: 8:43046638-43046638
GRCh38: 8:43191495-43191495
13 HGSNAT NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) SNV Pathogenic 1237 rs121908285 GRCh37: 8:43037305-43037305
GRCh38: 8:43182162-43182162
14 USH2A NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs) Microsatellite Pathogenic 2353 rs111033367 GRCh37: 1:216363622-216363623
GRCh38: 1:216190280-216190281
15 CNGA1 , LOC101927157 NM_000087.4(CNGA1):c.652C>T (p.Arg218Ter) SNV Pathogenic 242520 rs759781200 GRCh37: 4:47942792-47942792
GRCh38: 4:47940775-47940775
16 RPGR NM_000328.3(RPGR):c.1905+118G>T SNV Pathogenic 803968 rs1601924184 GRCh37: X:38146229-38146229
GRCh38: X:38286976-38286976
17 HGSNAT NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) SNV Pathogenic 208815 rs754875934 GRCh37: 8:43013853-43013853
GRCh38: 8:43158710-43158710
18 KIZ NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) SNV Pathogenic 128241 rs202210819 GRCh37: 20:21117104-21117104
GRCh38: 20:21136463-21136463
19 HGSNAT NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) SNV Pathogenic 208815 rs754875934 GRCh37: 8:43013853-43013853
GRCh38: 8:43158710-43158710
20 HGSNAT NM_152419.3(HGSNAT):c.1250+1G>A SNV Pathogenic 96500 rs398124544 GRCh37: 8:43046739-43046739
GRCh38: 8:43191596-43191596
21 VPS13B NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) SNV Pathogenic 95867 rs111751379 GRCh37: 8:100791158-100791158
GRCh38: 8:99778930-99778930
22 EYS NM_001142800.2(EYS):c.749-1G>C SNV Pathogenic 813182 GRCh37: 6:66200601-66200601
GRCh38: 6:65490708-65490708
23 CRB1 NM_201253.3(CRB1):c.2291G>A (p.Arg764His) SNV Pathogenic 166958 rs375040930 GRCh37: 1:197396746-197396746
GRCh38: 1:197427616-197427616
24 CNGB1 NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) SNV Pathogenic 166891 rs201162411 GRCh37: 16:57935275-57935275
GRCh38: 16:57901371-57901371
25 NR2E3 NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) SNV Pathogenic 5532 rs28937873 GRCh37: 15:72105913-72105913
GRCh38: 15:71813573-71813573
26 ARL6 NM_001278293.3(ARL6):c.266C>T (p.Ala89Val) SNV Pathogenic 2045 rs587777805 GRCh37: 3:97503810-97503810
GRCh38: 3:97784966-97784966
27 PDE6A NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) SNV Pathogenic 193099 rs141252097 GRCh37: 5:149323933-149323933
GRCh38: 5:149944370-149944370
28 RP1 NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) SNV Pathogenic 95352 rs446227 GRCh37: 8:55541450-55541450
GRCh38: 8:54628890-54628890
29 USH2A NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) SNV Pathogenic 2356 rs80338902 GRCh37: 1:216420460-216420460
GRCh38: 1:216247118-216247118
30 USH2A-AS2 , USH2A NM_206933.4(USH2A):c.5776+1G>A SNV Pathogenic 228414 rs876657731 GRCh37: 1:216246438-216246438
GRCh38: 1:216073096-216073096
31 EYS NM_001142800.2(EYS):c.6714del (p.Ile2239fs) Deletion Pathogenic 357699 rs752953889 GRCh37: 6:64776242-64776242
GRCh38: 6:64066349-64066349
32 EYS NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) Deletion Pathogenic 236446 rs878853349 GRCh37: 6:65612025-65612026
GRCh38: 6:64902132-64902133
33 PRPH2 NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) SNV Pathogenic 13183 rs61755783 GRCh37: 6:42689649-42689649
GRCh38: 6:42721911-42721911
34 CNGB1 NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) SNV Pathogenic 166891 rs201162411 GRCh37: 16:57935275-57935275
GRCh38: 16:57901371-57901371
35 RP1 NM_006269.2(RP1):c.5019T>G (p.Tyr1673Ter) SNV Pathogenic 95353 rs398124220 GRCh37: 8:55541461-55541461
GRCh38: 8:54628901-54628901
36 EYS NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) SNV Pathogenic 632492 rs779983752 GRCh37: 6:64436534-64436534
GRCh38: 6:63726641-63726641
37 CLRN1 NM_174878.3(CLRN1):c.528T>G (p.Tyr176Ter) SNV Pathogenic 4392 rs121908140 GRCh37: 3:150645894-150645894
GRCh38: 3:150928107-150928107
38 NR2E3 NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) SNV Pathogenic 5532 rs28937873 GRCh37: 15:72105913-72105913
GRCh38: 15:71813573-71813573
39 MERTK NM_006343.3(MERTK):c.2070_2074del (p.Gly691fs) Deletion Pathogenic 811356 rs1573638426 GRCh37: 2:112767631-112767635
GRCh38: 2:112010054-112010058
40 EYS NM_001142800.2(EYS):c.4613_4616del (p.Leu1538fs) Deletion Pathogenic 811908 rs1582929649 GRCh37: 6:65301144-65301147
GRCh38: 6:64591251-64591254
41 ABCA4 NM_000350.3(ABCA4):c.5333_5336del (p.Met1778fs) Deletion Pathogenic 812199 rs1571253050 GRCh37: 1:94480223-94480226
GRCh38: 1:94014667-94014670
42 ADAM9 NM_003816.3(ADAM9):c.1087T>A (p.Cys363Ser) SNV Pathogenic 812213 rs1588350497 GRCh37: 8:38884286-38884286
GRCh38: 8:39026767-39026767
43 AGBL5 NM_021831.6(AGBL5):c.1787_1788del (p.His596fs) Deletion Pathogenic 812217 rs1285501658 GRCh37: 2:27281383-27281384
GRCh38: 2:27058515-27058516
44 AHI1 NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) SNV Pathogenic 624266 rs777215595 GRCh37: 6:135715991-135715991
GRCh38: 6:135394853-135394853
45 AHI1 NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) SNV Pathogenic 217525 rs372659908 GRCh37: 6:135754219-135754219
GRCh38: 6:135433081-135433081
46 AIPL1 NM_014336.5(AIPL1):c.99del (p.Ile34fs) Deletion Pathogenic 812220 rs1597340989 GRCh37: 17:6337416-6337416
GRCh38: 17:6434096-6434096
47 ARL2BP NM_012106.4(ARL2BP):c.38+2T>G SNV Pathogenic 812223 rs1597951232 GRCh37: 16:57279319-57279319
GRCh38: 16:57245407-57245407
48 ARL2BP NM_012106.4(ARL2BP):c.101-1G>C SNV Pathogenic 65473 rs879255568 GRCh37: 16:57282448-57282448
GRCh38: 16:57248536-57248536
49 BBS2 NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro) SNV Pathogenic 4578 rs138043021 GRCh37: 16:56530894-56530894
GRCh38: 16:56496982-56496982
50 CFAP410 NM_004928.3(CFAP410):c.643-1G>C SNV Pathogenic 812234 rs1602071514 GRCh37: 21:45750210-45750210
GRCh38: 21:44330327-44330327

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

72
# Symbol AA change Variation ID SNP ID
1 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 cell projection GO:0042995 9.96 USH2A RPGR RP2 RP1 ROM1 RHO
2 cilium GO:0005929 9.83 RPGR RP2 RP1 EYS ARL6
3 photoreceptor inner segment GO:0001917 9.63 USH2A RP1 RHO PRPH2 CRB1 C8orf37
4 photoreceptor disc membrane GO:0097381 9.5 RHO PDE6G PDE6A
5 periciliary membrane compartment GO:1990075 9.4 USH2A RP2
6 interphotoreceptor matrix GO:0033165 9.37 RBP3 EYS
7 photoreceptor outer segment membrane GO:0042622 9.35 ROM1 RHO PDE6G PDE6A CNGA1
8 photoreceptor outer segment GO:0001750 9.23 RPGR RP1 ROM1 RHO PRPH2 EYS

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.8 USH2A RPGR RP1 ROM1 RHO PRPH2
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.73 RHO PDE6G PDE6A CNGA1
3 photoreceptor cell maintenance GO:0045494 9.72 USH2A RP1 RHO CRB1 CLRN1
4 detection of light stimulus involved in visual perception GO:0050908 9.71 ROM1 PRPH2 EYS CRB1
5 retinoid metabolic process GO:0001523 9.69 RHO RBP3 LRAT
6 cellular response to light stimulus GO:0071482 9.67 RP1 RHO CRB1
7 photoreceptor cell outer segment organization GO:0035845 9.67 RP1 ROM1 PRPH2 CRB1
8 sensory perception of light stimulus GO:0050953 9.65 USH2A RHO CLRN1
9 retina morphogenesis in camera-type eye GO:0060042 9.63 RP1 ROM1 CRB1
10 retina development in camera-type eye GO:0060041 9.63 RP1 ROM1 RHO PRPH2 PDE6A CRB1
11 rhodopsin mediated signaling pathway GO:0016056 9.56 RHO PDE6G PDE6A CNGA1
12 visual perception GO:0007601 9.55 USH2A RPGR RP2 RP1 ROM1 RHO
13 protein heterooligomerization GO:0051291 9.54 ROM1 PRPH2
14 phototransduction, visible light GO:0007603 9.52 RP1 RHO

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.6 USH2A RPGR RP2 RP1 ROM1 RHO
2 cGMP binding GO:0030553 9.26 PDE6G CNGA1
3 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.16 PDE6G PDE6A
4 retinol binding GO:0019841 8.96 RBP3 LRAT

Sources for Retinitis Pigmentosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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