MCID: RTN058
MIFTS: 45

Retinitis Pigmentosa 3

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 3

MalaCards integrated aliases for Retinitis Pigmentosa 3:

Name: Retinitis Pigmentosa 3 54 12 50 71 13 52 14 69
Retinitis Pigmentosa 15 50 71 29
Rp3 12 50 71
Choroidoretinal Degeneration with Retinal Reflex in Heterozygous Women 50 71
X-Linked Retinitis Pigmentosa 3 71
Cone-Rod Degeneration X-Linked 50
X-Linked Cone-Rod Degeneration 71
Retinitis Pigmentosa Type 15 71
Xlrp-3 71
Rp 15 50
Xlrp3 71
Rp15 71

Characteristics:

HPO:

32
retinitis pigmentosa 3:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 54 300029
Disease Ontology 12 DOID:0110414
ICD10 33 H35.5
MeSH 42 D012174

Summaries for Retinitis Pigmentosa 3

UniProtKB/Swiss-Prot : 71 Retinitis pigmentosa 3: A X-linked 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. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe retinitis pigmentosa. Heterozygous women can manifest a form of choroidoretinal degeneration which is distinguished from other types by the absence of visual defects in the presence of a brilliant, scintillating, golden-hued, patchy appearance most striking around the macula, called a tapetal-like retinal reflex.

MalaCards based summary : Retinitis Pigmentosa 3, also known as retinitis pigmentosa 15, is related to oliver-mcfarlane syndrome and osteopoikilosis and dacryocystitis, and has symptoms including rod-cone dystrophy and cone/cone-rod dystrophy. An important gene associated with Retinitis Pigmentosa 3 is RPGR (Retinitis Pigmentosa GTPase Regulator). The drugs Lenograstim and Exenatide have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and eye, and related phenotype is vision/eye.

OMIM : 54
X-linked retinitis pigmentosa (XLRP) is a severe form of inherited retinal degeneration that primarily affects the rod photoreceptors (Demirci et al., 2002). It typically causes an early-onset night blindness and loss of peripheral vision, often causing patients to become legally blind by the age of 30 to 40 years. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe RP (Jin et al., 2007). Mutation in the RPGR gene is believed to account for approximately 70% of XLRP (Vervoort et al., 2000). For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. (300029)

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the RPGR gene on chromosome Xp11.

Related Diseases for Retinitis Pigmentosa 3

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 59 Retinitis Pigmentosa 76
Retinitis Pigmentosa 20 Retinitis Pigmentosa 19
Retinitis Pigmentosa 32 Retinitis Pigmentosa 18
Retinitis Pigmentosa 35 Retinitis Pigmentosa-12, Autosomal Recessive
Retinitis Pigmentosa 67 Retinitis Pigmentosa 39
Retinitis Pigmentosa 58 Retinitis Pigmentosa 54
Retinitis Pigmentosa 75 Retinitis Pigmentosa 71
Retinitis Pigmentosa 28 Retinitis Pigmentosa 33
Retinitis Pigmentosa 38 Retinitis Pigmentosa 26
Retinitis Pigmentosa 47 Retinitis Pigmentosa 55
Retinitis Pigmentosa 56 Retinitis Pigmentosa 4, Autosomal Dominant or Recessive
Retinitis Pigmentosa 61 Retinitis Pigmentosa 68
Retinitis Pigmentosa-40 Retinitis Pigmentosa 41
Retinitis Pigmentosa 49 Retinitis Pigmentosa 29
Retinitis Pigmentosa 43 Retinitis Pigmentosa 62
Retinitis Pigmentosa 14 Retinitis Pigmentosa 48
Retinitis Pigmentosa 25 Retinitis Pigmentosa 63
Retinitis Pigmentosa 42 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa 73
Retinitis Pigmentosa 1 Retinitis Pigmentosa 31
Retinitis Pigmentosa 70 Retinitis Pigmentosa 66
Retinitis Pigmentosa 79 Retinitis Pigmentosa 44
Retinitis Pigmentosa 72 Retinitis Pigmentosa-50
Retinitis Pigmentosa 27 Retinitis Pigmentosa 51
Retinitis Pigmentosa 37 Retinitis Pigmentosa 22
Retinitis Pigmentosa 45 Retinitis Pigmentosa 74
Retinitis Pigmentosa 13 Retinitis Pigmentosa 36
Retinitis Pigmentosa 17 Retinitis Pigmentosa 30
Retinitis Pigmentosa 57 Retinitis Pigmentosa 77
Retinitis Pigmentosa 78 Retinitis Pigmentosa 11
Retinitis Pigmentosa 46 Retinitis Pigmentosa 69
Retinitis Pigmentosa 60 Retinitis Pigmentosa 23
Retinitis Pigmentosa 3 Retinitis Pigmentosa 2
Retinitis Pigmentosa 24 Retinitis Pigmentosa 34
Late-Adult Onset Retinitis Pigmentosa Nonsyndromic Retinitis Pigmentosa
Abca4-Related Retinitis Pigmentosa Agbl5-Related Retinitis Pigmentosa
Aipl1-Related Retinitis Pigmentosa Arl2bp-Related Retinitis Pigmentosa
Arl6-Related Retinitis Pigmentosa Bbs2-Related Retinitis Pigmentosa
Best1-Related Retinitis Pigmentosa C2orf71-Related Retinitis Pigmentosa
C8orf37-Related Retinitis Pigmentosa Ca4-Related Retinitis Pigmentosa
Cerkl-Related Retinitis Pigmentosa Clrn1-Related Retinitis Pigmentosa
Cnga1-Related Retinitis Pigmentosa Cngb1-Related Retinitis Pigmentosa
Crb1-Related Retinitis Pigmentosa Crx-Related Retinitis Pigmentosa
Dhdds-Related Retinitis Pigmentosa Eys-Related Retinitis Pigmentosa
Fam161a-Related Retinitis Pigmentosa Fscn2-Related Retinitis Pigmentosa
Guca1b-Related Retinitis Pigmentosa Idh3b-Related Retinitis Pigmentosa
Impdh1-Related Retinitis Pigmentosa Impg2-Related Retinitis Pigmentosa
Kiz-Related Retinitis Pigmentosa Klhl7-Related Retinitis Pigmentosa
Lrat-Related Retinitis Pigmentosa Mak-Related Retinitis Pigmentosa
Mertk-Related Retinitis Pigmentosa Nr2e3-Related Retinitis Pigmentosa
Nrl-Related Retinitis Pigmentosa Ofd1-Related Retinitis Pigmentosa
Pde6a-Related Retinitis Pigmentosa Pde6b-Related Retinitis Pigmentosa
Prcd-Related Retinitis Pigmentosa Prom1-Related Retinitis Pigmentosa
Prpf3-Related Retinitis Pigmentosa Prpf31-Related Retinitis Pigmentosa
Prpf4-Related Retinitis Pigmentosa Prpf6-Related Retinitis Pigmentosa
Prpf8-Related Retinitis Pigmentosa Prph2-Related Retinitis Pigmentosa
Rbp3-Related Retinitis Pigmentosa Rdh12-Related Retinitis Pigmentosa
Rgr-Related Retinitis Pigmentosa Rho-Related Retinitis Pigmentosa
Rom1-Related Retinitis Pigmentosa Rp1-Related Retinitis Pigmentosa
Rp2-Related Retinitis Pigmentosa Rp9-Related Retinitis Pigmentosa
Rpe65-Related Retinitis Pigmentosa Rpgr-Related Retinitis Pigmentosa
Sag-Related Retinitis Pigmentosa Sema4a-Related Retinitis Pigmentosa
Slc7a14-Related Retinitis Pigmentosa Snrnp200-Related Retinitis Pigmentosa
Spata7-Related Retinitis Pigmentosa Topors-Related Retinitis Pigmentosa
Ttc8-Related Retinitis Pigmentosa Tulp1-Related Retinitis Pigmentosa
Ush2a-Related Retinitis Pigmentosa Znf513-Related Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
id Related Disease Score Top Affiliating Genes
1 oliver-mcfarlane syndrome 10.4 RPGR RPGRIP1
2 osteopoikilosis and dacryocystitis 10.2 ABCA4 RPGR
3 tendinitis 10.2 ABCA4 RPGR
4 dystonia 16 10.2 PDE6D RPGR
5 hereditary breast ovarian cancer 10.1 ABCA4 RPGR RPGRIP1
6 ichthyosis with confetti 10.1 ABCA4 RPGR RPGRIP1
7 whipple disease 10.0 ABCA4 RPGR RPGRIP1
8 cerebral atherosclerosis 10.0 IQCB1 RPGR RPGRIP1
9 retinitis pigmentosa 10.0
10 retinitis 10.0
11 senior-loken syndrome-1 9.9 IQCB1 RPGR
12 epileptic encephalopathy, early infantile, 14 9.9 IQCB1 PDE6D RPGR RPGRIP1
13 impetigo 9.8 ABCA4 IQCB1 RPGR RPGRIP1
14 limbal stem cell deficiency 9.8 ABCA4 IQCB1 RPGR RPGRIP1
15 posterior polar cataract 9.6 ABCA4 CRYZL1 RPGR
16 scar contracture 8.5 ABCA4 HMGCL IQCB1 PDE6D RPGR RPGRIP1
17 macular degeneration, x-linked atrophic 6.1 ABCA4 ATL1 CRYZL1 HMGCL IQCB1 MDM1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 3:



Diseases related to Retinitis Pigmentosa 3

Symptoms & Phenotypes for Retinitis Pigmentosa 3

Clinical features from OMIM:

300029

Human phenotypes related to Retinitis Pigmentosa 3:

32
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 cone/cone-rod dystrophy 32 HP:0000548

MGI Mouse Phenotypes related to Retinitis Pigmentosa 3:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 ABCA4 MDM1 PDE6D RPGR RPGRIP1

Drugs & Therapeutics for Retinitis Pigmentosa 3

Drugs for Retinitis Pigmentosa 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 113)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved Phase 2, Phase 3 135968-09-1
2
Exenatide Approved, Investigational Phase 3 141758-74-9 15991534
3
Metformin Approved Phase 3 657-24-9 14219 4091
4
Phentermine Approved, Illicit Phase 3 122-09-8 4771
5
Topiramate Approved Phase 3 97240-79-4 5284627
6
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
7
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
8
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
9
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
10
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
11
rituximab Approved Phase 3 174722-31-7 10201696
12
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
13
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 11103-57-4, 68-26-8 445354
14
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
15 Tocopherol Approved, Nutraceutical Phase 3
16
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
17
B-Carotene Approved, Nutraceutical Phase 2, Phase 3,Phase 1 7235-40-7 5280489
18
Docetaxel Approved May 1996, Investigational Phase 2, Phase 3 114977-28-5 148124 9877265
19
Doxil Approved June 1999 Phase 3 31703
20 Autonomic Agents Phase 3,Phase 1,Phase 2
21 Peripheral Nervous System Agents Phase 3,Phase 1,Phase 2
22 Pharmaceutical Solutions Phase 3,Phase 1,Phase 2
23 Antioxidants Phase 3,Phase 2,Phase 1
24 Bone Density Conservation Agents Phase 3
25 Micronutrients Phase 3,Phase 2,Phase 1
26 Protective Agents Phase 3,Phase 2,Phase 1
27 Retinol palmitate Phase 3,Phase 1
28 Trace Elements Phase 3,Phase 2,Phase 1
29 Vitamins Phase 3,Phase 2,Phase 1
30 Tocopherols Phase 3
31 Tocotrienols Phase 3
32 Anti-Bacterial Agents Phase 2, Phase 3, Phase 1
33 Anti-Infective Agents Phase 2, Phase 3,Phase 1
34 Antimitotic Agents Phase 2, Phase 3
35 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
36 Diketopiperazines Phase 2, Phase 3
37 Adrenergic Agents Phase 3
38 Anticonvulsants Phase 3
39 Anti-Obesity Agents Phase 3
40 Appetite Depressants Phase 3
41 Central Nervous System Stimulants Phase 3
42 Gastrointestinal Agents Phase 3
43 glucagon Phase 3
44 Glucagon-Like Peptide 1 Phase 3
45 Hormone Antagonists Phase 3
46 Hormones Phase 3
47 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
48 Hypoglycemic Agents Phase 3
49 Incretins Phase 3
50 Neuroprotective Agents Phase 3

Interventional clinical trials:

(show all 39)

id Name Status NCT ID Phase Drugs
1 Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A Completed NCT00346333 Phase 3 Lutein
2 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3 Vitamin A;Nutritional Supplement
3 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3 Vitamin E;Vitamin A
4 Plinabulin vs. Pegfilgrastim in Patients With Solid Tumors Receiving Docetaxel Myelosuppressive Chemotherapy Recruiting NCT03102606 Phase 2, Phase 3 Plinabulin;Pegfilgrastim
5 DAPA, EQW, DAPA/MET ER and PHEN/TPM ER in Obese Women With PolycysticOvary Syndrome (PCOS) Recruiting NCT02635386 Phase 3 Exenatide once weekly (EQW );Dapagliflozin (DAPA);EQW plus DAPA;Dapagliflozin plus Glucophage (MET ER);Phentermine /Topiramate (PHEN/ TRP) ER
6 Study of Copanlisib in Combination With Standard Immunochemotherapy in Relapsed Indolent Non-Hodgkin's Lymphoma (iNHL) Recruiting NCT02626455 Phase 3 Copanlisib (BAY 80-6946);Placebo;Rituximab;Cyclophosphamide;Doxorubicin;Vincristine;Bendamustine;Prednisone
7 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil Recruiting NCT01680510 Phase 2, Phase 3
8 Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa Terminated NCT01786395 Phase 3 UF-021;Placebo
9 A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP) Unknown status NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
10 Clinical Study to Evaluate Safety and Efficacy of BMMNC in Retinitis Pigmentosa Unknown status NCT01914913 Phase 1, Phase 2
11 Safety and Effectiveness of Combretastatin A-4 Phosphate Combined With Chemotherapy in Advanced Solid Tumors Completed NCT00113438 Phase 2 Combretastatin A-4 Phosphate + Paclitaxel + Carboplatin
12 DHA and X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2 docosahexaenoic acid OR corn/soy oil placebo
13 A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa Completed NCT00447993 Phase 2 NT-501;NT-501
14 Study of Oral Minocycline in Treating Bilateral Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
15 Safety of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Retinitis Pigmentosa Completed NCT02320812 Phase 1, Phase 2
16 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
17 Safety and Tolerability of hRPC in Retinitis Pigmentosa Recruiting NCT02464436 Phase 1, Phase 2 hRPC
18 Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
19 Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa Recruiting NCT03073733 Phase 2
20 Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis Pigmentosa Active, not recruiting NCT01530659 Phase 2 NT-501
21 Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study Active, not recruiting NCT02661711 Phase 2 Aflibercept
22 The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa Not yet recruiting NCT02018692 Phase 1, Phase 2
23 Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Suspended NCT02338973 Phase 1, Phase 2 Interferon gamma-1b
24 Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01) Completed NCT01521793 Phase 1 QLT091001
25 Clinical Trial of Intravitreal Injection of Autologous Bone Marrow Stem Cells in Patients With Retinitis Pigmentosa Completed NCT02280135 Phase 1
26 Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa Completed NCT00065455 Phase 1 Vitamin A
27 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01068561 Phase 1
28 The FIGHT-RP1 Study Recruiting NCT03063021 Phase 1 N-Acetyl Cysteine (NAC)
29 A Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa Terminated NCT00458575 Phase 1 CNTO 2476
30 Myopic Control for High Myopes Using Orthokeratology Completed NCT00977236
31 TES for the Treatment of RP Completed NCT01847365
32 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985
33 Gyrate Atrophy of the Choroid and Retina Completed NCT00001166
34 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
35 Rod and Cone Mediated Function in Retinal Disease Recruiting NCT02617966
36 Beginning Relationships in a Native Community Active, not recruiting NCT02091804
37 Safety and Efficacy of the Alpha AMS Subretinal Implant Active, not recruiting NCT02720640
38 Natural History and Genetic Studies of Usher Syndrome Active, not recruiting NCT00106743
39 Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome Terminated NCT00004345

Search NIH Clinical Center for Retinitis Pigmentosa 3

Genetic Tests for Retinitis Pigmentosa 3

Genetic tests related to Retinitis Pigmentosa 3:

id Genetic test Affiliating Genes
1 Retinitis Pigmentosa 15 29

Anatomical Context for Retinitis Pigmentosa 3

MalaCards organs/tissues related to Retinitis Pigmentosa 3:

39
Bone, Bone Marrow, Eye, Retina

Publications for Retinitis Pigmentosa 3

Articles related to Retinitis Pigmentosa 3:

id Title Authors Year
1
Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3. ( 17653054 )
2007
2
Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3). ( 10699176 )
2000
3
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. ( 8817343 )
1996

Variations for Retinitis Pigmentosa 3

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 3:

71 (show all 24)
id Symbol AA change Variation ID SNP ID
1 RPGR p.Phe130Cys VAR_006850 rs62638644
2 RPGR p.Pro235Ser VAR_006851 rs62638651
3 RPGR p.Gly275Ser VAR_006852 rs62642057
4 RPGR p.Gly60Val VAR_008501 rs62638634
5 RPGR p.His98Gln VAR_008504 rs62638636
6 RPGR p.Gly215Val VAR_008505 rs62650218
7 RPGR p.Cys250Arg VAR_008506 rs62650220
8 RPGR p.Gly436Asp VAR_008510 rs62635004
9 RPGR p.Cys302Arg VAR_011561 rs62640589
10 RPGR p.Thr99Asn VAR_013625 rs62638637
11 RPGR p.Ile289Val VAR_013626 rs62640587
12 RPGR p.Gly43Glu VAR_018057 rs62638630
13 RPGR p.Gly43Arg VAR_018058 rs62638629
14 RPGR p.Arg127Gly VAR_018059 rs62638643
15 RPGR p.Gly173Arg VAR_018060 rs137852550
16 RPGR p.Cys250Tyr VAR_018061
17 RPGR p.Gly267Glu VAR_018063
18 RPGR p.Cys302Tyr VAR_018064 rs62640590
19 RPGR p.Asp312Asn VAR_018065
20 RPGR p.Asp312Tyr VAR_018066
21 RPGR p.Gly320Arg VAR_018067 rs62640593
22 RPGR p.Ser152Leu VAR_025949
23 RPGR p.Gly267Arg VAR_026127
24 RPGR p.Glu285Gly VAR_026128

ClinVar genetic disease variations for Retinitis Pigmentosa 3:

6 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1 RPGR NM_001034853.1(RPGR): c.2650G> T (p.Glu884Ter) single nucleotide variant Pathogenic rs137852549 GRCh38 Chromosome X, 38286349: 38286349
2 RPGR NM_000328.2(RPGR): c.389T> G (p.Phe130Cys) single nucleotide variant Pathogenic rs62638644 GRCh37 Chromosome X, 38178162: 38178162
3 RPGR NM_000328.2(RPGR): c.703C> T (p.Pro235Ser) single nucleotide variant Pathogenic rs62638651 GRCh37 Chromosome X, 38169943: 38169943
4 RPGR NM_000328.2(RPGR): c.823G> A (p.Gly275Ser) single nucleotide variant Pathogenic rs62642057 GRCh37 Chromosome X, 38163999: 38163999
5 RPGR RPGR, 4-BP DEL, NT1433 deletion Pathogenic
6 RPGR RPGR, IVS10DS, A-G, +3 single nucleotide variant Pathogenic
7 RPGR NM_000328.2(RPGR): c.179G> T (p.Gly60Val) single nucleotide variant Pathogenic rs62638634 GRCh37 Chromosome X, 38182174: 38182174
8 RPGR RPGR, 2-BP DEL, 652AG deletion Pathogenic
9 RPGR RPGR, 2-BP DEL, NT1571 deletion Pathogenic
10 RPGR RPGR, EX15ADEL deletion Pathogenic
11 RPGR NM_000328.2(RPGR): c.296C> A (p.Thr99Asn) single nucleotide variant Pathogenic rs62638637 GRCh37 Chromosome X, 38180294: 38180294
12 RPGR RPGR, 2-BP DEL, 673AG deletion Pathogenic
13 RPGR RPGR, 1-BP INS, 173A insertion Pathogenic
14 RPGR RPGR, 912G-T single nucleotide variant Pathogenic
15 RPGR RPGR, IVS9AS, G-A, -55 single nucleotide variant Pathogenic
16 RPGR NM_001034853.1(RPGR): c.2405_2406delAG (p.Glu802Glyfs) deletion Pathogenic rs398122960 GRCh37 Chromosome X, 38145846: 38145847
17 RPGR NM_000328.2(RPGR): c.155-2A> G single nucleotide variant Pathogenic rs62638632 GRCh37 Chromosome X, 38182200: 38182200
18 RPGR NM_000328.2(RPGR): c.505G> T (p.Glu169Ter) single nucleotide variant Pathogenic rs369037463 GRCh37 Chromosome X, 38176683: 38176683
19 RPGR NM_000328.2(RPGR): c.806G> A (p.Gly269Glu) single nucleotide variant Likely pathogenic rs398123336 GRCh37 Chromosome X, 38164016: 38164016
20 RPGR NM_000328.2(RPGR): c.642_656delTGGAGAACCTGAGAAinsC (p.Gly215Trpfs) indel Pathogenic rs796065331 GRCh37 Chromosome X, 38169990: 38170004
21 RPGR NM_000328.2(RPGR): c.1387C> T (p.Gln463Ter) single nucleotide variant Pathogenic rs886044302 GRCh37 Chromosome X, 38156564: 38156564

Expression for Retinitis Pigmentosa 3

Search GEO for disease gene expression data for Retinitis Pigmentosa 3.

Pathways for Retinitis Pigmentosa 3

GO Terms for Retinitis Pigmentosa 3

Cellular components related to Retinitis Pigmentosa 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.56 ATL1 PDE6D RPGR RPGRIP1
2 microtubule organizing center GO:0005815 9.5 IQCB1 MDM1 RPGR
3 cilium GO:0005929 9.33 PDE6D RPGR RPGRIP1
4 photoreceptor connecting cilium GO:0032391 8.96 IQCB1 RPGRIP1
5 photoreceptor outer segment GO:0001750 8.8 ABCA4 IQCB1 RPGR

Biological processes related to Retinitis Pigmentosa 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 retina development in camera-type eye GO:0060041 9.26 MDM1 RPGRIP1
2 response to stimulus GO:0050896 9.26 ABCA4 PDE6D RPGR RPGRIP1
3 photoreceptor cell maintenance GO:0045494 9.16 ABCA4 IQCB1
4 visual perception GO:0007601 8.92 ABCA4 PDE6D RPGR RPGRIP1

Sources for Retinitis Pigmentosa 3

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