RP3
MCID: RTN058
MIFTS: 42

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 56 12 52 73 13 54 15 71
Retinitis Pigmentosa 15 56 52 73 29 6
Rp3 56 12 52 73
Choroidoretinal Degeneration with Retinal Reflex in Heterozygous Women 56 52 73
Rp15 56 73
Cone-Rod Degeneration, X-Linked 56
X-Linked Retinitis Pigmentosa 3 73
Cone-Rod Degeneration X-Linked 52
X-Linked Cone-Rod Degeneration 73
Retinitis Pigmentosa 15; Rp15 56
Retinitis Pigmentosa Type 15 73
Retinitis Pigmentosa, Type 3 39
Xlrp-3 73
Rp 15 52
Xlrp3 73

Characteristics:

HPO:

31
retinitis pigmentosa 3:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110414
OMIM 56 300029
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
SNOMED-CT via HPO 68 263934009 28835009 312917007
UMLS 71 C1845667

Summaries for Retinitis Pigmentosa 3

UniProtKB/Swiss-Prot : 73 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 yemenite deaf-blind hypopigmentation syndrome and retinal degeneration. An important gene associated with Retinitis Pigmentosa 3 is RPGR (Retinitis Pigmentosa GTPase Regulator), and among its related pathways/superpathways are Regulation of degradation of deltaF508 CFTR in CF and Cell cycle_Spindle assembly and chromosome separation. Affiliated tissues include eye, retina and testes, 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 : 56 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
Retinitis Pigmentosa 86 Nonsyndromic Retinitis Pigmentosa

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 yemenite deaf-blind hypopigmentation syndrome 31.3 RPGR ABCA4
2 retinal degeneration 31.2 RPGRIP1 RPGR RP2 ABCA4
3 retinitis 31.0 RPGRIP1 RPGR RP9 RP2 ABCA4
4 inherited retinal disorder 30.7 RPGR RP2 IQCB1 ABCA4
5 retinal disease 30.3 RPGRIP1 RPGR RP9 RP2 ABCA4
6 leber congenital amaurosis 30.3 RPGRIP1 RPGR RP9 RP2 IQCB1 ABCA4
7 fundus dystrophy 30.3 RPGRIP1 RPGR RP9 RP2 PDE6D IQCB1
8 retinitis pigmentosa 29.2 TIPARP RPGRIP1 RPGR RP9 RP2 RCC1L
9 cone-rod dystrophy 1 10.6 RPGRIP1 RPGR
10 cone-rod dystrophy 13 10.6 RPGRIP1 RPGR
11 laurence-moon syndrome 10.6 RPGRIP1 RPGR
12 peripheral retinal degeneration 10.5 RPGR ABCA4
13 leber congenital amaurosis 10 10.5 RPGRIP1 RPGR IQCB1
14 retinitis pigmentosa 14 10.5 RPGR RP9
15 retinitis pigmentosa 20 10.5 RPGR RP9
16 retinitis pigmentosa 19 10.5 RPGR RP9 ABCA4
17 retinitis pigmentosa 17 10.5 RPGR RP9
18 retinal ciliopathy 10.5 RPGRIP1 RPGR PDE6D IQCB1
19 retinitis pigmentosa 6 10.5 RPGR RP9
20 gyrate atrophy of choroid and retina 10.5 RPGR RP9 ABCA4
21 retinitis pigmentosa 4 10.4 RPGR RP9
22 cone-rod dystrophy 6 10.4 RPGRIP1 RPGR PDE6D ABCA4
23 achromatopsia 10.4 RPGRIP1 RPGR IQCB1 ABCA4
24 bardet-biedl syndrome 7 10.4 TCTEX1D4 DYNLT3
25 night blindness 10.4
26 retinitis pigmentosa 34 10.4 RPGR RP9 RCC1L PDE6D
27 retinitis pigmentosa 10 10.3 RPGR RP9
28 choroid disease 10.3 RPGR ABCA4
29 neuroretinitis 10.3
30 senior-loken syndrome 1 10.3 RPGRIP1 RPGR RCC1L IQCB1 ABCA4
31 muscular dystrophy, duchenne type 10.3
32 chronic granulomatous disease 10.3
33 muscular dystrophy 10.3
34 scotoma 10.2 RPGR ABCA4
35 bardet-biedl syndrome 10.2 RPGRIP1 RPGR IQCB1 ABCA4
36 cone-rod dystrophy 2 10.2
37 night blindness, congenital stationary, type 2a 10.2
38 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness 10.2
39 congenital stationary night blindness 10.2
40 x-linked congenital stationary night blindness 10.2
41 darier-white disease 10.1
42 craniosynostosis with fibular aplasia 10.1
43 hypophosphatemic rickets, x-linked recessive 10.1
44 coffin-lowry syndrome 10.1
45 retinoschisis 1, x-linked, juvenile 10.1
46 keratosis follicularis spinulosa decalvans, autosomal dominant 10.1
47 rickets 10.1
48 keratosis 10.1
49 nonsyndromic retinitis pigmentosa 10.1
50 keratosis follicularis spinulosa decalvans 10.1

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:

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

Clinical features from OMIM:

300029

Drugs & Therapeutics for Retinitis Pigmentosa 3

Search Clinical Trials , 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:

40
Eye, Retina, Testes

Publications for Retinitis Pigmentosa 3

Articles related to Retinitis Pigmentosa 3:

(show top 50) (show all 58)
# Title Authors PMID Year
1
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. 61 56 6
8817343 1996
2
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. 56 6
24043777 2013
3
A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. 56 6
17480003 2007
4
A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy. 56 6
16387007 2006
5
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. 56 6
10970770 2000
6
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. 56 6
10932196 2000
7
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. 56 6
9399904 1997
8
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). 56 6
8673101 1996
9
X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11. 56 6
7611300 1995
10
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
11
Visual Function in Carriers of X-Linked Retinitis Pigmentosa. 56
26143542 2015
12
Rates of decline in regions of the visual field defined by frequency-domain optical coherence tomography in patients with RPGR-mediated X-linked retinitis pigmentosa. 56
25556114 2015
13
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. 56
23150612 2012
14
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
15
Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration. 6
20631154 2010
16
Somatic and gonadal mosaicism in X-linked retinitis pigmentosa. 56
17935240 2007
17
Identification and characterization of a novel RPGR isoform in human retina. 6
17405150 2007
18
Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. 56
17325176 2007
19
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. 56
12657579 2003
20
Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene. 56
11950860 2002
21
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. 56
11857109 2002
22
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
23
A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa. 56
10690843 2000
24
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. 6
10482958 1999
25
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. 6
10401007 1999
26
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. 6
9855162 1998
27
A new 2-base pair deletion in the RPGR gene in a black family with X-linked retinitis pigmentosa. 6
9488274 1998
28
Severe manifestations in carrier females in X linked retinitis pigmentosa. 56
9350809 1997
29
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. 6
9326322 1997
30
A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3. 56
8659520 1996
31
Nomenclature for inherited diseases of the retina. 56
8571973 1996
32
Genetic mapping of loci for X-linked retinitis pigmentosa. 56
1685699 1991
33
Clinical variability in a family with X-linked retinal dystrophy and the locus at the RP3 site. 56
1923319 1991
34
Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families. 56
1979051 1990
35
Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. 56
2300556 1990
36
Linkage analysis of a large Latin-American family with X-linked retinitis pigmentosa and metallic sheen in the heterozygote carrier. 56
2568332 1989
37
Non-allelic mutations in X-linked retinitis pigmentosa. 56
2569369 1989
38
Recombination between DXS7, DXS84 and a rare form of X-linked retinitis pigmentosa (McK-30320). 56
2912892 1989
39
Two different genes for X-linked retinitis pigmentosa. 56
3397063 1988
40
Analysis of linkage relationships of X-linked retinitis pigmentosa with the following Xp loci: L1.28, OTC, 754, XJ-1.1, pERT87, and C7. 56
3422211 1988
41
Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. 56
2991893 1985
42
Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. 56
2984924 1985
43
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. 56
4039107 1985
44
Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers. 56
3858218 1985
45
Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. 56
6325945 1984
46
Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3. 54 61
17653054 2007
47
Independent origin and restricted distribution of RPGR deletions causing XLPRA. 54 61
17646274 2007
48
DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements. 54 61
11702207 2001
49
The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. 54 61
9990021 1999
50
The aetiology of optic atrophy in Nigerians--a general hospital clinic study. 61
16033618 2005

Variations for Retinitis Pigmentosa 3

ClinVar genetic disease variations for Retinitis Pigmentosa 3:

6 (show top 50) (show all 58) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPGR NM_000328.3(RPGR):c.389T>G (p.Phe130Cys)SNV Pathogenic 9897 rs62638644 X:38178162-38178162 X:38318909-38318909
2 RPGR NM_000328.3(RPGR):c.703C>T (p.Pro235Ser)SNV Pathogenic 9898 rs62638651 X:38169943-38169943 X:38310690-38310690
3 RPGR NM_000328.3(RPGR):c.823G>A (p.Gly275Ser)SNV Pathogenic 9899 rs62642057 X:38163999-38163999 X:38304746-38304746
4 RPGR RPGR, 4-BP DEL, NT1433deletion Pathogenic 9900
5 RPGR RPGR, IVS10DS, A-G, +3SNV Pathogenic 9901
6 RPGR NM_000328.3(RPGR):c.179G>T (p.Gly60Val)SNV Pathogenic 9902 rs62638634 X:38182174-38182174 X:38322921-38322921
7 RPGR RPGR, 2-BP DEL, 652AGdeletion Pathogenic 9903
8 RPGR RPGR, 2-BP DEL, NT1571deletion Pathogenic 9904
9 RPGR RPGR, EX15ADELdeletion Pathogenic 9905
10 RPGR NM_000328.3(RPGR):c.296C>A (p.Thr99Asn)SNV Pathogenic 9906 rs62638637 X:38180294-38180294 X:38321041-38321041
11 RPGR RPGR, 2-BP DEL, 673AGdeletion Pathogenic 9907
12 RPGR NM_000328.3(RPGR):c.1905+745G>TSNV Pathogenic 9908 rs137852549 X:38145602-38145602 X:38286349-38286349
13 RPGR RPGR, 1-BP INS, 173Ainsertion Pathogenic 9909
14 RPGR RPGR, 912G-TSNV Pathogenic 9920
15 RPGR NM_000328.3(RPGR):c.1059+363G>ASNV Pathogenic 9921 rs1410177435 X:38160137-38160137 X:38300884-38300884
16 RPGR NM_000328.3(RPGR):c.1905+331_1905+332delshort repeat Pathogenic 438142 rs1555961852 X:38146015-38146016 X:38286762-38286763
17 RPGR NM_000328.3(RPGR):c.983del (p.Gly328fs)deletion Pathogenic 522451 rs1555965107 X:38160576-38160576 X:38301323-38301323
18 RPGR NM_000328.3(RPGR):c.1905+1088_1905+1091deldeletion Pathogenic 560503 rs1569235677 X:38145256-38145259 X:38286003-38286006
19 RPGR NM_000328.3(RPGR):c.1671del (p.Ala558fs)deletion Pathogenic 560498 rs1569238659 X:38147196-38147196 X:38287943-38287943
20 RPGR NM_000328.3(RPGR):c.423del (p.Ile142fs)deletion Pathogenic 560504 rs1569258901 X:38178128-38178128 X:38318875-38318875
21 RPGR NM_000328.3(RPGR):c.1905+600_1905+601deldeletion Pathogenic 620583 rs1569236971 X:38145746-38145747 X:38286493-38286494
22 RPGR NM_000328.3(RPGR):c.1905+537_1905+540deldeletion Pathogenic 620582 rs1569237077 X:38145807-38145810 X:38286554-38286557
23 RPGR GRCh37/hg19 Xp11.4(chrX:38144822-38164037)copy number loss Pathogenic 625790 X:38144822-38164037
24 RP2 NM_006915.3(RP2):c.158del (p.Leu53fs)deletion Pathogenic 803987 X:46712965-46712965 X:46853530-46853530
25 RP2 NM_006915.3(RP2):c.932del (p.Cys311fs)deletion Pathogenic 803989 X:46736988-46736988 X:46877553-46877553
26 RPGR NM_000328.3(RPGR):c.1905+500_1905+501delshort repeat Pathogenic/Likely pathogenic 91389 rs398122960 X:38145846-38145847 X:38286593-38286594
27 RP2 NM_006915.3(RP2):c.102G>A (p.Lys34=)SNV Likely pathogenic 427872 rs1556313552 X:46696637-46696637 X:46837202-46837202
28 RPGR NM_000328.3(RPGR):c.1905+479deldeletion Likely pathogenic 560500 rs1569237206 X:38145868-38145868 X:38286615-38286615
29 RPGR NM_000328.3(RPGR):c.248-28_248-10deldeletion Uncertain significance 560501 rs1569260656 X:38180352-38180370 X:38321099-38321117
30 RP2 NM_006915.3(RP2):c.884-14G>ASNV Uncertain significance 803988 X:46736926-46736926 X:46877491-46877491
31 RP2 NM_006915.3(RP2):c.30G>A (p.Lys10=)SNV Uncertain significance 289614 rs782402689 X:46696565-46696565 X:46837130-46837130
32 RP2 NM_006915.3(RP2):c.-26G>TSNV Uncertain significance 368305 rs782652659 X:46696510-46696510 X:46837075-46837075
33 RP2 NM_006915.3(RP2):c.650A>G (p.Asn217Ser)SNV Uncertain significance 368308 rs781878275 X:46713458-46713458 X:46854023-46854023
34 RP2 NM_006915.2(RP2):c.-70A>GSNV Uncertain significance 368303 rs1057515891 X:46696466-46696466 X:46837031-46837031
35 RP2 NM_006915.3(RP2):c.*243_*246deldeletion Uncertain significance 368309 rs782684761 X:46739444-46739447 X:46880009-46880012
36 RP2 NM_006915.3(RP2):c.*1947C>GSNV Uncertain significance 368323 rs781995791 X:46741151-46741151 X:46881716-46881716
37 RP2 NM_006915.3(RP2):c.514A>G (p.Ser172Gly)SNV Uncertain significance 368306 rs782217142 X:46713322-46713322 X:46853887-46853887
38 RP2 NM_006915.3(RP2):c.*1081C>TSNV Uncertain significance 368315 rs782529175 X:46740285-46740285 X:46880850-46880850
39 RP2 NM_006915.3(RP2):c.*1098G>ASNV Uncertain significance 368316 rs181617714 X:46740302-46740302 X:46880867-46880867
40 RP2 NM_006915.3(RP2):c.*1447T>CSNV Uncertain significance 368317 rs1057515894 X:46740651-46740651 X:46881216-46881216
41 RP2 NM_006915.3(RP2):c.*1458G>ASNV Uncertain significance 368318 rs1057515895 X:46740662-46740662 X:46881227-46881227
42 RP2 NM_006915.2(RP2):c.-97C>TSNV Uncertain significance 368302 rs975776959 X:46696439-46696439 X:46837004-46837004
43 RP2 NM_006915.3(RP2):c.*1926G>ASNV Uncertain significance 368322 rs782390676 X:46741130-46741130 X:46881695-46881695
44 RP2 NM_006915.3(RP2):c.*2156A>GSNV Likely benign 368325 rs141748740 X:46741360-46741360 X:46881925-46881925
45 RP2 NM_006915.3(RP2):c.*2163T>CSNV Likely benign 368326 rs35931067 X:46741367-46741367 X:46881932-46881932
46 RP2 NM_006915.3(RP2):c.*435C>TSNV Likely benign 368310 rs147975002 X:46739639-46739639 X:46880204-46880204
47 RP2 NM_006915.3(RP2):c.*2085T>CSNV Likely benign 368324 rs73478384 X:46741289-46741289 X:46881854-46881854
48 RP2 NM_006915.3(RP2):c.*808deldeletion Likely benign 368311 rs781852469 X:46740011-46740011 X:46880576-46880576
49 RP2 NM_006915.3(RP2):c.-44G>CSNV Likely benign 368304 rs186256592 X:46696492-46696492 X:46837057-46837057
50 RP2 NM_006915.3(RP2):c.*904A>GSNV Likely benign 368313 rs144870840 X:46740108-46740108 X:46880673-46880673

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

73 (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

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
Show member pathways
11.26 DYNLT3 DYNLT1 DYNLL1 DYNC1LI1
2 11 RCC1 DYNLT3 DYNLT1 DYNLL1 DYNC1LI1
3 10.6 DYNLL1 DYNC1LI1

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 cytoskeleton GO:0005856 9.87 RPGR PDE6D IQCB1 DYNLT3 DYNLT1 DYNLL1
2 microtubule GO:0005874 9.71 DYNLT3 DYNLT1 DYNLL1 DYNC1LI1
3 cilium GO:0005929 9.55 RPGRIP1 RPGR RP2 PDE6D DYNLL1
4 kinetochore GO:0000776 9.54 DYNLT3 DYNLL1 DYNC1LI1
5 photoreceptor outer segment GO:0001750 9.43 RPGR IQCB1 ABCA4
6 dynein complex GO:0030286 9.26 DYNLT3 DYNLT1 DYNLL1 DYNC1LI1
7 cytoplasmic dynein complex GO:0005868 8.92 DYNLT3 DYNLT1 DYNLL1 DYNC1LI1

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

# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.26 RCC1 DYNLT3 DYNLT1 DYNC1LI1
2 visual perception GO:0007601 9.02 RPGRIP1 RPGR RP2 PDE6D ABCA4

Molecular functions related to Retinitis Pigmentosa 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.46 RP2 RCC1L DYNC1LI1 ATL1
2 guanyl-nucleotide exchange factor activity GO:0005085 9.13 RPGR RCC1L RCC1
3 motor activity GO:0003774 8.92 DYNLT3 DYNLT1 DYNLL1 DYNC1LI1

Sources for Retinitis Pigmentosa 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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