RP3
MCID: RTN058
MIFTS: 43

Retinitis Pigmentosa 3 (RP3)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 3

MalaCards integrated aliases for Retinitis Pigmentosa 3:

Name: Retinitis Pigmentosa 3 58 12 54 76 13 56 15 74
Retinitis Pigmentosa 15 58 54 76 30 6
Rp3 58 12 54 76
Choroidoretinal Degeneration with Retinal Reflex in Heterozygous Women 58 54 76
Rp15 58 76
Cone-Rod Degeneration, X-Linked 58
X-Linked Retinitis Pigmentosa 3 76
Cone-Rod Degeneration X-Linked 54
X-Linked Cone-Rod Degeneration 76
Retinitis Pigmentosa 15; Rp15 58
Retinitis Pigmentosa Type 15 76
Retinitis Pigmentosa, Type 3 41
Xlrp-3 76
Rp 15 54
Xlrp3 76

Characteristics:

HPO:

33
retinitis pigmentosa 3:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110414
OMIM 58 300029
MeSH 45 D012174
ICD10 34 H35.5
SNOMED-CT via HPO 70 263934009 28835009 312917007
UMLS 74 C1845667

Summaries for Retinitis Pigmentosa 3

UniProtKB/Swiss-Prot : 76 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 cone-rod dystrophy 2 and fundus dystrophy. An important gene associated with Retinitis Pigmentosa 3 is RPGR (Retinitis Pigmentosa GTPase Regulator), and among its related pathways/superpathways is Cell cycle_Spindle assembly and chromosome separation. The drugs Glucagon and Topiramate have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are rod-cone dystrophy and cone/cone-rod dystrophy

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

OMIM : 58 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)

Related Diseases for Retinitis Pigmentosa 3

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
Nonsyndromic Retinitis Pigmentosa

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 29.9 ABCA4 IQCB1 RPGR RPGRIP1
2 fundus dystrophy 29.9 ABCA4 IQCB1 RPGR RPGRIP1
3 retinitis pigmentosa 28.3 ABCA4 DYNLT3 IQCB1 PDE6D RCC1 RPGR
4 retinitis pigmentosa 2 10.4
5 laurence-moon syndrome 10.3 RPGR RPGRIP1
6 cone-rod dystrophy 8 10.2 ABCA4 RPGRIP1
7 cone-rod dystrophy 6 10.2 PDE6D RPGR
8 bietti crystalline corneoretinal dystrophy 10.2 IQCB1 RPGRIP1
9 cone-rod dystrophy 9 10.2 ABCA4 RPGRIP1
10 retinitis pigmentosa 26 10.2 PDE6D RPGR
11 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness 10.1
12 leber congenital amaurosis 4 10.1
13 retinitis 10.1
14 yemenite deaf-blind hypopigmentation syndrome 10.1 ABCA4 RPGR
15 coffin-lowry syndrome 10.1
16 keratosis follicularis spinulosa decalvans, autosomal dominant 10.1
17 nephronophthisis 18 10.1 IQCB1 RCC1
18 retinal disease 10.1 ABCA4 RPGR RPGRIP1
19 retinal degeneration 10.1 ABCA4 RPGR RPGRIP1
20 nephronophthisis 10.1 IQCB1 RPGR RPGRIP1
21 senior-loken syndrome 1 10.1 IQCB1 RPGR
22 congenital stationary night blindness 10.0
23 night blindness 10.0
24 herpes simplex 10.0
25 x-linked congenital stationary night blindness 10.0
26 renal-hepatic-pancreatic dysplasia 10.0 IQCB1 RCC1
27 joubert syndrome 1 10.0 IQCB1 PDE6D RPGR RPGRIP1
28 stargardt disease 9.9 ABCA4 RPGR
29 leber congenital amaurosis 9.9 ABCA4 IQCB1 RPGR RPGRIP1

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



Diseases related to Retinitis Pigmentosa 3

Symptoms & Phenotypes for Retinitis Pigmentosa 3

Human phenotypes related to Retinitis Pigmentosa 3:

33
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 33 HP:0000510
2 cone/cone-rod dystrophy 33 HP:0000548

Clinical features from OMIM:

300029

Drugs & Therapeutics for Retinitis Pigmentosa 3

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

(show top 50) (show all 99)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glucagon Approved Phase 3 16941-32-5
2
Topiramate Approved Phase 3 97240-79-4 5284627
3
Metformin Approved Phase 3 657-24-9 14219 4091
4
Exenatide Approved, Investigational Phase 3 141758-74-9 15991534
5
Phentermine Approved, Illicit Phase 3 122-09-8 4771
6
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
7
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
8
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
9
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
10
rituximab Approved Phase 3 174722-31-7 10201696
11
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
12
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
13
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
14
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
15
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
16
Docetaxel Approved, Investigational Phase 2, Phase 3 114977-28-5 148124
17
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
18
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
19
Doxil Approved June 1999 Phase 3 31703
20 Hormones Phase 3,Phase 1,Phase 2
21 Peripheral Nervous System Agents Phase 3,Phase 1
22 Hormone Antagonists Phase 3,Phase 1,Phase 2
23 Gastrointestinal Agents Phase 3,Phase 1
24 Autonomic Agents Phase 3,Phase 1
25 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2
26 Antineoplastic Agents, Hormonal Phase 3,Phase 1
27 Antimitotic Agents Phase 3,Phase 2
28 Immunologic Factors Phase 3,Phase 1,Phase 2
29 glucocorticoids Phase 3,Phase 1
30 Immunosuppressive Agents Phase 3,Phase 1,Phase 2
31 Anti-Inflammatory Agents Phase 3,Phase 1
32 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
33 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
34 Anti-Infective Agents Phase 2, Phase 3,Phase 1
35 Central Nervous System Stimulants Phase 3
36 Anti-Obesity Agents Phase 3
37 2-(3-(4-ethoxybenzyl)-4-chlorophenyl)-6-hydroxymethyltetrahydro-2H-pyran-3,4,... Phase 3
38 Appetite Depressants Phase 3
39 Adrenergic Agents Phase 3
40 Neurotransmitter Agents Phase 3,Phase 1,Phase 2
41 Hypoglycemic Agents Phase 3
42 Sodium-Glucose Transporter 2 Inhibitors Phase 3
43 Sympathomimetics Phase 3
44 Incretins Phase 3
45 Glucagon-Like Peptide 1 Phase 3
46 Anticonvulsants Phase 3
47 Methylprednisolone Acetate Phase 3
48 Antineoplastic Agents, Immunological Phase 3
49 Prednisolone acetate Phase 3
50 Alkylating Agents Phase 3

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 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
2 Study of Copanlisib in Combination With Standard Immunochemotherapy in Relapsed Indolent Non-Hodgkin's Lymphoma (iNHL) Recruiting NCT02626455 Phase 3 Copanlisib (BAY80-6946);Placebo;Rituximab;Cyclophosphamide;Doxorubicin;Vincristine;Bendamustine;Prednisone
3 A Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Recruiting NCT03116113 Phase 2, Phase 3
4 Plinabulin vs. Pegfilgrastim in Patients With Solid Tumors Receiving Docetaxel Myelosuppressive Chemotherapy Active, not recruiting NCT03102606 Phase 2, Phase 3 Plinabulin;Pegfilgrastim
5 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
6 Gene Therapy for X-linked Retinitis Pigmentosa (XLRP) Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03252847 Phase 1, Phase 2
7 Safety and Efficacy of rAAV2tYF-GRK1-RPGR in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations Recruiting NCT03316560 Phase 1, Phase 2
8 HDM201 Added to CT in R/R or Newly Diagnosed AML Not yet recruiting NCT03760445 Phase 1, Phase 2 HDM201;cytarabine;anthracycline;midostaurin;liposomal cytarabine/daunorubicin;posaconazole;midazolam
9 A Study of Oprozomib, Pomalidomide, and Dexamethasone in Subjects With Primary Refractory or Relapsed and Refractory Multiple Myeloma Completed NCT01999335 Phase 1 Oprozomib;Pomalidomide;Dexamethasone
10 Myopic Control for High Myopes Using Orthokeratology Completed NCT00977236 Not Applicable
11 Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03349242
12 Beginning Relationships in a Native Community Active, not recruiting NCT02091804 Not Applicable

Search NIH Clinical Center for Retinitis Pigmentosa 3

Genetic Tests for Retinitis Pigmentosa 3

Genetic tests related to Retinitis Pigmentosa 3:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 15 30 RPGR

Anatomical Context for Retinitis Pigmentosa 3

MalaCards organs/tissues related to Retinitis Pigmentosa 3:

42
Eye, Retina

Publications for Retinitis Pigmentosa 3

Articles related to Retinitis Pigmentosa 3:

(show all 18)
# Title Authors Year
1
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. ( 24043777 )
2013
2
Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration. ( 20631154 )
2010
3
A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. ( 17480003 )
2007
4
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
5
Identification and characterization of a novel RPGR isoform in human retina. ( 17405150 )
2007
6
A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy. ( 16387007 )
2006
7
Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3). ( 10699176 )
2000
8
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. ( 10932196 )
2000
9
Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15. ( 10970770 )
2000
10
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. ( 10401007 )
1999
11
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. ( 10482958 )
1999
12
A new 2-base pair deletion in the RPGR gene in a black family with X-linked retinitis pigmentosa. ( 9488274 )
1998
13
X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60. ( 9855162 )
1998
14
Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families. ( 9326322 )
1997
15
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. ( 9399904 )
1997
16
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). ( 8673101 )
1996
17
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. ( 8817343 )
1996
18
X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11. ( 7611300 )
1995

Variations for Retinitis Pigmentosa 3

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

76 (show all 24)
# 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 top 50) (show all 105)
# 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.389T> G (p.Phe130Cys) single nucleotide variant Pathogenic rs62638644 GRCh38 Chromosome X, 38318909: 38318909
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.703C> T (p.Pro235Ser) single nucleotide variant Pathogenic rs62638651 GRCh38 Chromosome X, 38310690: 38310690
5 RPGR NM_000328.2(RPGR): c.823G> A (p.Gly275Ser) single nucleotide variant Pathogenic rs62642057 GRCh37 Chromosome X, 38163999: 38163999
6 RPGR NM_000328.2(RPGR): c.823G> A (p.Gly275Ser) single nucleotide variant Pathogenic rs62642057 GRCh38 Chromosome X, 38304746: 38304746
7 RPGR RPGR, 4-BP DEL, NT1433 deletion Pathogenic
8 RPGR RPGR, IVS10DS, A-G, +3 single nucleotide variant Pathogenic
9 RPGR NM_000328.2(RPGR): c.179G> T (p.Gly60Val) single nucleotide variant Pathogenic rs62638634 GRCh37 Chromosome X, 38182174: 38182174
10 RPGR NM_000328.2(RPGR): c.179G> T (p.Gly60Val) single nucleotide variant Pathogenic rs62638634 GRCh38 Chromosome X, 38322921: 38322921
11 RPGR RPGR, 2-BP DEL, 652AG deletion Pathogenic
12 RPGR RPGR, 2-BP DEL, NT1571 deletion Pathogenic
13 RPGR RPGR, EX15ADEL deletion Pathogenic
14 RPGR NM_000328.2(RPGR): c.296C> A (p.Thr99Asn) single nucleotide variant Pathogenic rs62638637 GRCh37 Chromosome X, 38180294: 38180294
15 RPGR NM_000328.2(RPGR): c.296C> A (p.Thr99Asn) single nucleotide variant Pathogenic rs62638637 GRCh38 Chromosome X, 38321041: 38321041
16 RPGR RPGR, 2-BP DEL, 673AG deletion Pathogenic
17 RPGR NM_001034853.1(RPGR): c.2650G> T (p.Glu884Ter) single nucleotide variant Pathogenic rs137852549 GRCh37 Chromosome X, 38145602: 38145602
18 RPGR NM_001034853.1(RPGR): c.2650G> T (p.Glu884Ter) single nucleotide variant Pathogenic rs137852549 GRCh38 Chromosome X, 38286349: 38286349
19 RPGR RPGR, 1-BP INS, 173A insertion Pathogenic
20 RPGR RPGR, 912G-T single nucleotide variant Pathogenic
21 RPGR NM_000328.2(RPGR): c.1059+363G> A single nucleotide variant Pathogenic rs1410177435 GRCh38 Chromosome X, 38300884: 38300884
22 RPGR NM_000328.2(RPGR): c.1059+363G> A single nucleotide variant Pathogenic rs1410177435 GRCh37 Chromosome X, 38160137: 38160137
23 RPGR NM_000328.2(RPGR): c.1905+500_1905+501delAG deletion Pathogenic/Likely pathogenic rs398122960 GRCh37 Chromosome X, 38145846: 38145847
24 RPGR NM_000328.2(RPGR): c.1905+500_1905+501delAG deletion Pathogenic/Likely pathogenic rs398122960 GRCh38 Chromosome X, 38286593: 38286594
25 RPGR NM_000328.2(RPGR): c.155-2A> G single nucleotide variant Pathogenic rs62638632 GRCh37 Chromosome X, 38182200: 38182200
26 RPGR NM_000328.2(RPGR): c.155-2A> G single nucleotide variant Pathogenic rs62638632 GRCh38 Chromosome X, 38322947: 38322947
27 RPGR NM_000328.2(RPGR): c.505G> T (p.Glu169Ter) single nucleotide variant Pathogenic rs369037463 GRCh37 Chromosome X, 38176683: 38176683
28 RPGR NM_000328.2(RPGR): c.505G> T (p.Glu169Ter) single nucleotide variant Pathogenic rs369037463 GRCh38 Chromosome X, 38317430: 38317430
29 RPGR NM_000328.2(RPGR): c.806G> A (p.Gly269Glu) single nucleotide variant Likely pathogenic rs398123336 GRCh37 Chromosome X, 38164016: 38164016
30 RPGR NM_000328.2(RPGR): c.806G> A (p.Gly269Glu) single nucleotide variant Likely pathogenic rs398123336 GRCh38 Chromosome X, 38304763: 38304763
31 RP2 NM_006915.2(RP2): c.260C> T (p.Thr87Ile) single nucleotide variant Benign/Likely benign rs147783915 GRCh37 Chromosome X, 46713068: 46713068
32 RP2 NM_006915.2(RP2): c.260C> T (p.Thr87Ile) single nucleotide variant Benign/Likely benign rs147783915 GRCh38 Chromosome X, 46853633: 46853633
33 RP2 NM_006915.2(RP2): c.844C> T (p.Arg282Trp) single nucleotide variant Benign/Likely benign rs1805147 GRCh37 Chromosome X, 46719498: 46719498
34 RP2 NM_006915.2(RP2): c.844C> T (p.Arg282Trp) single nucleotide variant Benign/Likely benign rs1805147 GRCh38 Chromosome X, 46860063: 46860063
35 RP2 NM_006915.2(RP2): c.30G> A (p.Lys10=) single nucleotide variant Uncertain significance rs782402689 GRCh37 Chromosome X, 46696565: 46696565
36 RP2 NM_006915.2(RP2): c.30G> A (p.Lys10=) single nucleotide variant Uncertain significance rs782402689 GRCh38 Chromosome X, 46837130: 46837130
37 RP2 NM_006915.2(RP2): c.-26G> T single nucleotide variant Uncertain significance rs782652659 GRCh37 Chromosome X, 46696510: 46696510
38 RP2 NM_006915.2(RP2): c.-26G> T single nucleotide variant Uncertain significance rs782652659 GRCh38 Chromosome X, 46837075: 46837075
39 RP2 NM_006915.2(RP2): c.650A> G (p.Asn217Ser) single nucleotide variant Uncertain significance rs781878275 GRCh37 Chromosome X, 46713458: 46713458
40 RP2 NM_006915.2(RP2): c.650A> G (p.Asn217Ser) single nucleotide variant Uncertain significance rs781878275 GRCh38 Chromosome X, 46854023: 46854023
41 RP2 NM_006915.2(RP2): c.*904A> G single nucleotide variant Likely benign rs144870840 GRCh37 Chromosome X, 46740108: 46740108
42 RP2 NM_006915.2(RP2): c.*904A> G single nucleotide variant Likely benign rs144870840 GRCh38 Chromosome X, 46880673: 46880673
43 RP2 NM_006915.2(RP2): c.*958A> C single nucleotide variant Likely benign rs190692640 GRCh37 Chromosome X, 46740162: 46740162
44 RP2 NM_006915.2(RP2): c.*958A> C single nucleotide variant Likely benign rs190692640 GRCh38 Chromosome X, 46880727: 46880727
45 RP2 NM_006915.2(RP2): c.*1717_*1719dupATT duplication Likely benign rs782229405 GRCh37 Chromosome X, 46740921: 46740923
46 RP2 NM_006915.2(RP2): c.*1717_*1719dupATT duplication Likely benign rs782229405 GRCh38 Chromosome X, 46881486: 46881488
47 RP2 NM_006915.2(RP2): c.*1908G> A single nucleotide variant Likely benign rs782216739 GRCh37 Chromosome X, 46741112: 46741112
48 RP2 NM_006915.2(RP2): c.*1908G> A single nucleotide variant Likely benign rs782216739 GRCh38 Chromosome X, 46881677: 46881677
49 RP2 NM_006915.2(RP2): c.*1947C> G single nucleotide variant Uncertain significance rs781995791 GRCh38 Chromosome X, 46881716: 46881716
50 RP2 NM_006915.2(RP2): c.-70A> G single nucleotide variant Uncertain significance rs1057515891 GRCh37 Chromosome X, 46696466: 46696466

Expression for Retinitis Pigmentosa 3

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

Pathways for Retinitis Pigmentosa 3

Pathways related to Retinitis Pigmentosa 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.78 DYNLT1 DYNLT3 RCC1

GO Terms for Retinitis Pigmentosa 3

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

# Name GO ID Score Top Affiliating Genes
1 microtubule GO:0005874 9.58 DYNLT1 DYNLT3 MDM1
2 cilium GO:0005929 9.54 PDE6D RPGR RPGRIP1
3 cytoskeleton GO:0005856 9.43 DYNLT1 DYNLT3 IQCB1 MDM1 PDE6D RPGR
4 photoreceptor connecting cilium GO:0032391 9.32 IQCB1 RPGRIP1
5 dynein complex GO:0030286 9.26 DYNLT1 DYNLT3
6 cytoplasmic dynein complex GO:0005868 9.16 DYNLT1 DYNLT3
7 photoreceptor outer segment GO:0001750 8.8 ABCA4 IQCB1 RPGR

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.46 ABCA4 PDE6D RPGR RPGRIP1
2 retina development in camera-type eye GO:0060041 9.26 MDM1 RPGRIP1
3 visual perception GO:0007601 9.26 ABCA4 PDE6D RPGR RPGRIP1
4 photoreceptor cell maintenance GO:0045494 8.8 ABCA4 IQCB1 MDM1

Sources for Retinitis Pigmentosa 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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