MCID: RTN058
MIFTS: 40

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 53 12 49 71 13 51 14 69
Retinitis Pigmentosa 15 53 49 71 28
Rp3 53 12 49 71
Choroidoretinal Degeneration with Retinal Reflex in Heterozygous Women 53 49 71
Rp15 53 71
Cone-Rod Degeneration, X-Linked 53
X-Linked Retinitis Pigmentosa 3 71
Cone-Rod Degeneration X-Linked 49
X-Linked Cone-Rod Degeneration 71
Retinitis Pigmentosa 15; Rp15 53
Retinitis Pigmentosa Type 15 71
Xlrp-3 71
Rp 15 49
Xlrp3 71

Characteristics:

HPO:

31
retinitis pigmentosa 3:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 53 300029
Disease Ontology 12 DOID:0110414
ICD10 32 H35.5
MeSH 41 D012174
SNOMED-CT via HPO 65 28835009 312917007 263934009
UMLS 69 C1845667

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 retinitis pigmentosa and laurence-moon syndrome, 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 eye, and related phenotype is vision/eye.

OMIM : 53 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 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 Nonsyndromic Retinitis Pigmentosa

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 28.5 ABCA4 ATL1 IQCB1 PDE6D RPGR RPGRIP1
2 laurence-moon syndrome 10.3 RPGR RPGRIP1
3 rhyns syndrome 10.1 ABCA4 RPGR
4 retinitis pigmentosa 26 10.1 PDE6D RPGR
5 cone-rod dystrophy 2 10.1 ABCA4 RPGR RPGRIP1
6 senior-loken syndrome 1 10.0 IQCB1 RPGR
7 retinal disease 10.0 ABCA4 RPGR RPGRIP1
8 leber congenital amaurosis 4 10.0
9 retinitis 10.0
10 retinal degeneration 10.0 ABCA4 RPGR RPGRIP1
11 nephronophthisis 10.0 IQCB1 RPGR RPGRIP1
12 stargardt disease 9.9 ABCA4 RPGR
13 joubert syndrome 1 9.9 IQCB1 PDE6D RPGR RPGRIP1
14 fundus dystrophy 9.8 ABCA4 IQCB1 RPGR RPGRIP1
15 leber congenital amaurosis 9.8 ABCA4 IQCB1 RPGR RPGRIP1
16 congenital stationary night blindness 9.6 ABCA4 CRYZL1 RPGR

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:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 cone/cone-rod dystrophy 31 HP:0000548

MGI Mouse Phenotypes related to Retinitis Pigmentosa 3:

43
# 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 57)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational 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 4091 14219
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
Docetaxel Approved May 1996, Investigational Phase 2, Phase 3 114977-28-5 148124 9877265
14
Doxil Approved June 1999 Phase 3 31703
15 Antimitotic Agents Phase 2, Phase 3
16 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
17 Anti-Bacterial Agents Phase 2, Phase 3
18 Anti-Infective Agents Phase 2, Phase 3
19 Diketopiperazines Phase 2, Phase 3
20 Adrenergic Agents Phase 3
21 Anticonvulsants Phase 3
22 Anti-Obesity Agents Phase 3
23 Appetite Depressants Phase 3
24 Autonomic Agents Phase 3
25 Central Nervous System Stimulants Phase 3
26 Gastrointestinal Agents Phase 3
27 glucagon Phase 3
28 Glucagon-Like Peptide 1 Phase 3
29 Hormone Antagonists Phase 3
30 Hormones Phase 3
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
32 Hypoglycemic Agents Phase 3
33 Incretins Phase 3
34 Neuroprotective Agents Phase 3
35 Neurotransmitter Agents Phase 3
36 Peripheral Nervous System Agents Phase 3
37 Protective Agents Phase 3
38 Alkylating Agents Phase 3
39 Antibiotics, Antitubercular Phase 3
40 Anti-Inflammatory Agents Phase 3
41 Antineoplastic Agents, Hormonal Phase 3
42 Antirheumatic Agents Phase 3
43 Bendamustine Hydrochloride Phase 3
44 glucocorticoids Phase 3
45 Immunosuppressive Agents Phase 3
46 Methylprednisolone acetate Phase 3
47 Methylprednisolone Hemisuccinate Phase 3
48 Pharmaceutical Solutions Phase 3
49 Prednisolone acetate Phase 3
50 Prednisolone hemisuccinate Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Plinabulin vs. Pegfilgrastim in Patients With Solid Tumors Receiving Docetaxel Myelosuppressive Chemotherapy Recruiting NCT03102606 Phase 2, Phase 3 Plinabulin;Pegfilgrastim
2 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
3 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
4 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
5 Myopic Control for High Myopes Using Orthokeratology Completed NCT00977236
6 Beginning Relationships in a Native Community Active, not recruiting NCT02091804

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 28 RPGR

Anatomical Context for Retinitis Pigmentosa 3

MalaCards organs/tissues related to Retinitis Pigmentosa 3:

38
Eye

Publications for Retinitis Pigmentosa 3

Articles related to Retinitis Pigmentosa 3:

# 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)
# 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)
# 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 NM_000328.2(RPGR): c.1059+363G> A single nucleotide variant Pathogenic GRCh38 Chromosome X, 38300884: 38300884
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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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