RP3
MCID: RTN058
MIFTS: 35

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 57 12 53 75 13 55 15 73
Retinitis Pigmentosa 15 57 53 75 29 6
Rp3 57 12 53 75
Choroidoretinal Degeneration with Retinal Reflex in Heterozygous Women 57 53 75
Rp15 57 75
Cone-Rod Degeneration, X-Linked 57
X-Linked Retinitis Pigmentosa 3 75
Cone-Rod Degeneration X-Linked 53
X-Linked Cone-Rod Degeneration 75
Retinitis Pigmentosa 15; Rp15 57
Retinitis Pigmentosa Type 15 75
Retinitis Pigmentosa, Type 3 40
Xlrp-3 75
Rp 15 53
Xlrp3 75

Characteristics:

HPO:

32
retinitis pigmentosa 3:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 300029
Disease Ontology 12 DOID:0110414
ICD10 33 H35.5
MeSH 44 D012174
SNOMED-CT via HPO 69 28835009 312917007 263934009
UMLS 73 C1845667

Summaries for Retinitis Pigmentosa 3

UniProtKB/Swiss-Prot : 75 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 Lenograstim and Docetaxel have been mentioned in the context of this disorder. Affiliated tissues include eye, 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 : 57 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
Nonsyndromic Retinitis Pigmentosa

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

(show all 28)
# 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 28.8 ABCA4 ATL1 DYNLT3 IQCB1 PDE6D RCC1
4 laurence-moon syndrome 10.2 RPGR RPGRIP1
5 cone-rod dystrophy 8 10.2 ABCA4 RPGRIP1
6 leber congenital amaurosis 4 10.1
7 retinitis 10.1
8 cone-rod dystrophy 6 10.1 PDE6D RPGR
9 bietti crystalline corneoretinal dystrophy 10.1 IQCB1 RPGRIP1
10 cone-rod dystrophy 9 10.1 ABCA4 RPGRIP1
11 retinitis pigmentosa 26 10.1 PDE6D RPGR
12 retinitis pigmentosa 2 10.1
13 nephronophthisis 18 10.1 IQCB1 RCC1
14 coffin-lowry syndrome 10.1
15 keratosis follicularis spinulosa decalvans, autosomal dominant 10.1
16 yemenite deaf-blind hypopigmentation syndrome 10.1 ABCA4 RPGR
17 retinal disease 10.1 ABCA4 RPGR RPGRIP1
18 retinal degeneration 10.1 ABCA4 RPGR RPGRIP1
19 nephronophthisis 10.0 IQCB1 RPGR RPGRIP1
20 senior-loken syndrome 1 10.0 IQCB1 RPGR
21 renal-hepatic-pancreatic dysplasia 10.0 IQCB1 RCC1
22 joubert syndrome 1 10.0 IQCB1 PDE6D RPGR RPGRIP1
23 congenital stationary night blindness 10.0
24 night blindness 10.0
25 herpes simplex 10.0
26 x-linked congenital stationary night blindness 10.0
27 stargardt disease 10.0 ABCA4 RPGR
28 leber congenital amaurosis 10.0 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

Clinical features from OMIM:

300029

Human phenotypes related to Retinitis Pigmentosa 3:

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

Drugs & Therapeutics for Retinitis Pigmentosa 3

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

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
2
Docetaxel Approved, Investigational Phase 2, Phase 3 114977-28-5 148124
3
Topiramate Approved Phase 3 97240-79-4 5284627
4
Phentermine Approved, Illicit Phase 3 122-09-8 4771
5
Metformin Approved Phase 3 657-24-9 14219 4091
6
Exenatide Approved, Investigational Phase 3 141758-74-9 15991534
7
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
8
rituximab Approved Phase 3 174722-31-7 10201696
9
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
10
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
11
Cyclophosphamide Approved, Investigational Phase 3 6055-19-2, 50-18-0 2907
12
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
13
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
14
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
15
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
16
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
17
Doxil Approved June 1999 Phase 3 31703
18 Antimitotic Agents Phase 2, Phase 3,Phase 3
19 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
20 Diketopiperazines Phase 2, Phase 3
21 Anti-Infective Agents Phase 2, Phase 3,Phase 1
22 Anti-Bacterial Agents Phase 2, Phase 3,Phase 3,Phase 1
23 Gastrointestinal Agents Phase 3,Phase 1
24 Neurotransmitter Agents Phase 3
25 Neuroprotective Agents Phase 3
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1
27 Central Nervous System Stimulants Phase 3
28 Peripheral Nervous System Agents Phase 3,Phase 1
29 Incretins Phase 3
30 Protective Agents Phase 3
31 glucagon Phase 3
32 Sympathomimetics Phase 3
33 Glucagon-Like Peptide 1 Phase 3
34 Hypoglycemic Agents Phase 3
35 Anticonvulsants Phase 3
36 Hormone Antagonists Phase 3,Phase 1
37 Anti-Obesity Agents Phase 3
38 Appetite Depressants Phase 3
39 Hormones Phase 3,Phase 1
40 Autonomic Agents Phase 3,Phase 1
41 Adrenergic Agents Phase 3
42 Pharmaceutical Solutions Phase 3
43 Antineoplastic Agents, Alkylating Phase 3
44 Topoisomerase Inhibitors Phase 3
45 Prednisolone acetate Phase 3
46 Antirheumatic Agents Phase 3
47 Antineoplastic Agents, Hormonal Phase 3,Phase 1
48 glucocorticoids Phase 3,Phase 1
49 Methylprednisolone acetate Phase 3
50 Anti-Inflammatory Agents Phase 3,Phase 1

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 (BAY80-6946);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 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
6 A Study of Oprozomib, Pomalidomide, and Dexamethasone in Subjects With Primary Refractory or Relapsed and Refractory Multiple Myeloma Active, not recruiting NCT01999335 Phase 1 Oprozomib;Pomalidomide;Dexamethasone
7 Myopic Control for High Myopes Using Orthokeratology Completed NCT00977236 Not Applicable
8 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 29 RPGR

Anatomical Context for Retinitis Pigmentosa 3

MalaCards organs/tissues related to Retinitis Pigmentosa 3:

41
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:

75 (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 106)
# 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 GRCh38 Chromosome X, 38300884: 38300884
22 RPGR NM_000328.2(RPGR): c.1059+363G> A single nucleotide variant Pathogenic GRCh37 Chromosome X, 38160137: 38160137
23 RPGR NM_000328.2(RPGR): c.1905+500_1905+501delAG deletion Likely pathogenic rs398122960 GRCh37 Chromosome X, 38145846: 38145847
24 RPGR NM_000328.2(RPGR): c.1905+500_1905+501delAG deletion 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 RPGR NM_000328.2(RPGR): c.486delT (p.Phe162Leufs) deletion Pathogenic rs281865297 GRCh37 Chromosome X, 38176702: 38176702
32 RPGR NM_000328.2(RPGR): c.486delT (p.Phe162Leufs) deletion Pathogenic rs281865297 GRCh38 Chromosome X, 38317449: 38317449
33 RP2 NM_006915.2(RP2): c.260C> T (p.Thr87Ile) single nucleotide variant Benign/Likely benign rs147783915 GRCh37 Chromosome X, 46713068: 46713068
34 RP2 NM_006915.2(RP2): c.260C> T (p.Thr87Ile) single nucleotide variant Benign/Likely benign rs147783915 GRCh38 Chromosome X, 46853633: 46853633
35 RP2 NM_006915.2(RP2): c.844C> T (p.Arg282Trp) single nucleotide variant Benign/Likely benign rs1805147 GRCh37 Chromosome X, 46719498: 46719498
36 RP2 NM_006915.2(RP2): c.844C> T (p.Arg282Trp) single nucleotide variant Benign/Likely benign rs1805147 GRCh38 Chromosome X, 46860063: 46860063
37 RPGR NM_000328.2(RPGR): c.642_656delTGGAGAACCTGAGAAinsC (p.Gly215Trpfs) indel Pathogenic rs796065331 GRCh37 Chromosome X, 38169990: 38170004
38 RPGR NM_000328.2(RPGR): c.642_656delTGGAGAACCTGAGAAinsC (p.Gly215Trpfs) indel Pathogenic rs796065331 GRCh38 Chromosome X, 38310737: 38310751
39 RP2 NM_006915.2(RP2): c.30G> A (p.Lys10=) single nucleotide variant Uncertain significance rs782402689 GRCh37 Chromosome X, 46696565: 46696565
40 RP2 NM_006915.2(RP2): c.30G> A (p.Lys10=) single nucleotide variant Uncertain significance rs782402689 GRCh38 Chromosome X, 46837130: 46837130
41 RPGR NM_000328.2(RPGR): c.1387C> T (p.Gln463Ter) single nucleotide variant Pathogenic rs886044302 GRCh37 Chromosome X, 38156564: 38156564
42 RPGR NM_000328.2(RPGR): c.1387C> T (p.Gln463Ter) single nucleotide variant Pathogenic rs886044302 GRCh38 Chromosome X, 38297311: 38297311
43 RP2 NM_006915.2(RP2): c.-26G> T single nucleotide variant Uncertain significance rs782652659 GRCh37 Chromosome X, 46696510: 46696510
44 RP2 NM_006915.2(RP2): c.-26G> T single nucleotide variant Uncertain significance rs782652659 GRCh38 Chromosome X, 46837075: 46837075
45 RP2 NM_006915.2(RP2): c.650A> G (p.Asn217Ser) single nucleotide variant Uncertain significance rs781878275 GRCh37 Chromosome X, 46713458: 46713458
46 RP2 NM_006915.2(RP2): c.650A> G (p.Asn217Ser) single nucleotide variant Uncertain significance rs781878275 GRCh38 Chromosome X, 46854023: 46854023
47 RP2 NM_006915.2(RP2): c.*904A> G single nucleotide variant Likely benign rs144870840 GRCh37 Chromosome X, 46740108: 46740108
48 RP2 NM_006915.2(RP2): c.*904A> G single nucleotide variant Likely benign rs144870840 GRCh38 Chromosome X, 46880673: 46880673
49 RP2 NM_006915.2(RP2): c.*958A> C single nucleotide variant Likely benign rs190692640 GRCh37 Chromosome X, 46740162: 46740162
50 RP2 NM_006915.2(RP2): c.*958A> C single nucleotide variant Likely benign rs190692640 GRCh38 Chromosome X, 46880727: 46880727

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 ExPASy
19 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
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42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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