RP3
MCID: RTN058
MIFTS: 44

Retinitis Pigmentosa 3 (RP3) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 3

Aliases & Descriptions for Retinitis Pigmentosa 3:

Name: Retinitis Pigmentosa 3 54 12 50 66 13 52 14 69
Rp3 12 50 66
Choroidoretinal Degeneration with Retinal Reflex in Heterozygous Women 50 66
Retinitis Pigmentosa Type 15 66 29
Retinitis Pigmentosa 15 50 66
X-Linked Retinitis Pigmentosa 3 66
Cone-Rod Degeneration X-Linked 50
X-Linked Cone-Rod Degeneration 66
Xlrp-3 66
Rp 15 50
Xlrp3 66
Rp15 66

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 : 66 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 rp3, is related to ciliary dyskinesia, primary, 1, with or without situs inversus and macular degeneration, age-related, 6, 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 Doxorubicin and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include 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... (300029) more...

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

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

(show all 17)
id Related Disease Score Top Affiliating Genes
1 ciliary dyskinesia, primary, 1, with or without situs inversus 10.8
2 macular degeneration, age-related, 6 10.2 RPGR RPGRIP1
3 dystonia 16 10.1 PDE6D RPGR
4 tendinosis 10.1 ABCA4 RPGR
5 2,4-dienoyl-coa reductase deficiency 10.1 PDE6D RPGRIP1
6 puerperal pulmonary embolism 10.1 ABCA4 RPGR RPGRIP1
7 van buchem disease 10.1 ABCA4 RPGR RPGRIP1
8 adult liposarcoma 10.1 ABCA4 RPGR RPGRIP1
9 polyhydramnios 10.0 ABCA4 RPGR RPGRIP1
10 joubert syndrome 4 10.0 IQCB1 RPGR
11 epilepsy, nocturnal frontal lobe, 5 10.0 IQCB1 PDE6D RPGR RPGRIP1
12 retinitis pigmentosa 10.0
13 retinitis 10.0
14 liver cirrhosis 9.9 ABCA4 IQCB1 RPGR RPGRIP1
15 charcot-marie-tooth disease intermediate type 9.9 ABCA4 CRYZL1 RPGR
16 sertoli cell-only syndrome 9.5 ABCA4 ATL1 IQCB1 PDE6D RPGR RPGRIP1
17 macular degeneration, x-linked atrophic 8.5 ABCA4 ATL1 CPZ CRYZL1 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 118)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
2
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
3
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
4
Metformin Approved Phase 3 657-24-9 14219 4091
5
rituximab Approved Phase 3 174722-31-7 10201696
6
Topiramate Approved Phase 3 97240-79-4 5284627
7
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
8
Exenatide Approved, Investigational Phase 3 141758-74-9 15991534
9
Lenograstim Approved Phase 2, Phase 3 135968-09-1
10
Phentermine Approved, Illicit Phase 3 122-09-8 4771
11
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
12
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
13
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 11103-57-4, 68-26-8 445354
14
Lutein Approved, Nutraceutical Phase 3 127-40-2 6433159 5368396
15
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
16
Docetaxel Approved May 1996, Investigational Phase 2, Phase 3 114977-28-5 148124 9877265
17
Doxil Approved June 1999 Phase 3 31703
18 Peripheral Nervous System Agents Phase 3,Phase 1,Phase 2
19 Pharmaceutical Solutions Phase 3,Phase 1,Phase 2
20 Autonomic Agents Phase 3,Phase 1,Phase 2
21 vitamin d Phase 3
22 Tocopherols Phase 3
23 Tocotrienols Phase 3
24 Trace Elements Phase 3,Phase 2,Phase 1,Early Phase 1
25 Anti-Bacterial Agents Phase 2, Phase 3, Phase 1
26 Vitamins Phase 3,Phase 2,Phase 1,Early Phase 1
27 Anti-Infective Agents Phase 2, Phase 3,Phase 1
28 Protective Agents Phase 3,Phase 2,Phase 1
29 Retinol palmitate Phase 3,Phase 1
30 Antimitotic Agents Phase 2, Phase 3
31 Micronutrients Phase 3,Phase 2,Phase 1,Early Phase 1
32 Bone Density Conservation Agents Phase 3
33 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
34 Antioxidants Phase 3,Phase 2,Phase 1
35 glucagon Phase 3
36 Prednisolone acetate Phase 3
37 Alkylating Agents Phase 3
38 glucocorticoids Phase 3
39 Adrenergic Agents Phase 3
40 Gastrointestinal Agents Phase 3
41 Neuroprotective Agents Phase 3
42 Neurotransmitter Agents Phase 3
43 Glucagon-Like Peptide 1 Phase 3
44 Topoisomerase Inhibitors Phase 3
45 Hormone Antagonists Phase 3
46 Diketopiperazines Phase 2, Phase 3
47 Hormones Phase 3
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
49 Hypoglycemic Agents Phase 3
50 Prednisolone hemisuccinate Phase 3

Interventional clinical trials:

(show all 45)
id Name Status NCT ID Phase
1 Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A Completed NCT00346333 Phase 3
2 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3
3 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3
4 Plinabulin vs. Pegfilgrastim in Patients With Solid Tumors Receiving Docetaxel Myelosuppressive Chemotherapy Recruiting NCT03102606 Phase 2, Phase 3
5 DAPA, EQW, DAPA/MET ER and PHEN/TPM ER in Obese Women With PolycysticOvary Syndrome (PCOS) Recruiting NCT02635386 Phase 3
6 Study of Copanlisib in Combination With Standard Immunochemotherapy in Relapsed Indolent Non-Hodgkin's Lymphoma (iNHL) Recruiting NCT02626455 Phase 3
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 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3
9 Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa Terminated NCT01786395 Phase 3
10 A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP) Unknown status NCT02110225 Phase 1, Phase 2
11 Clinical Study to Evaluate Safety and Efficacy of BMMNC in Retinitis Pigmentosa Unknown status NCT01914913 Phase 1, Phase 2
12 Safety and Effectiveness of Combretastatin A-4 Phosphate Combined With Chemotherapy in Advanced Solid Tumors Completed NCT00113438 Phase 2
13 DHA and X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2
14 A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa Completed NCT00447993 Phase 2
15 Study of Oral Minocycline in Treating Bilateral Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 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
18 Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
19 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
20 Safety of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Retinitis Pigmentosa Active, not recruiting NCT02320812 Phase 1, Phase 2
21 Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study Active, not recruiting NCT02661711 Phase 2
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
24 Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01) Completed NCT01521793 Phase 1
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
27 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01068561 Phase 1
28 The FIGHT-RP1 Study Recruiting NCT03063021 Phase 1
29 Argus II Retinal Prosthesis System Dry AMD Feasibility Study Protocol Recruiting NCT02227498 Phase 1
30 A Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa Terminated NCT00458575 Phase 1
31 Myopic Control for High Myopes Using Orthokeratology Completed NCT00977236
32 TES for the Treatment of RP Completed NCT01847365
33 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985
34 Gyrate Atrophy of the Choroid and Retina Completed NCT00001166
35 Characteristics and Risk Ratios of Late Intraocular Lens (IOL) Complication Completed NCT02747667
36 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565
37 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
38 Rod and Cone Mediated Function in Retinal Disease Recruiting NCT02617966
39 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
40 Evaluation of Retinal Structure With High Resolution Optical Coherence Tomography (OCT) Recruiting NCT00564291
41 Beginning Relationships in a Native Community Active, not recruiting NCT02091804
42 Safety and Efficacy of the Alpha AMS Subretinal Implant Active, not recruiting NCT02720640
43 Natural History and Genetic Studies of Usher Syndrome Active, not recruiting NCT00106743
44 Clinical Trials of Continuous Oxygen Therapy Combined With Blue Light Deprivation in the Treatment of Retinitis Pigmentosa Not yet recruiting NCT02465749 Early Phase 1
45 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
Eye

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:

66 (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_000328.2(RPGR): c.389T> G (p.Phe130Cys) single nucleotide variant Pathogenic rs62638644 GRCh37 Chromosome X, 38178162: 38178162
2 RPGR NM_000328.2(RPGR): c.703C> T (p.Pro235Ser) single nucleotide variant Pathogenic rs62638651 GRCh37 Chromosome X, 38169943: 38169943
3 RPGR NM_000328.2(RPGR): c.823G> A (p.Gly275Ser) single nucleotide variant Pathogenic rs62642057 GRCh37 Chromosome X, 38163999: 38163999
4 RPGR RPGR, 4-BP DEL, NT1433 deletion Pathogenic
5 RPGR RPGR, IVS10DS, A-G, +3 single nucleotide variant Pathogenic
6 RPGR NM_000328.2(RPGR): c.179G> T (p.Gly60Val) single nucleotide variant Pathogenic rs62638634 GRCh37 Chromosome X, 38182174: 38182174
7 RPGR RPGR, 2-BP DEL, 652AG deletion Pathogenic
8 RPGR RPGR, 2-BP DEL, NT1571 deletion Pathogenic
9 RPGR RPGR, EX15ADEL deletion Pathogenic
10 RPGR NM_000328.2(RPGR): c.296C> A (p.Thr99Asn) single nucleotide variant Pathogenic rs62638637 GRCh37 Chromosome X, 38180294: 38180294
11 RPGR RPGR, 2-BP DEL, 673AG deletion Pathogenic
12 RPGR NM_001034853.1(RPGR): c.2650G> T (p.Glu884Ter) single nucleotide variant Pathogenic rs137852549 GRCh37 Chromosome X, 38145602: 38145602
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
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34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
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