RP3
MCID: RTN058
MIFTS: 34

Retinitis Pigmentosa 3 (RP3) malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Retinitis Pigmentosa 3

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47OMIM, 33MalaCards
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MalaCards: Retinitis Pigmentosa 3, also known as choroidoretinal degeneration with retinal reflex in heterozygous women, is related to night blindness and blindness. An important gene associated with Retinitis Pigmentosa 3 is RPGR (retinitis pigmentosa GTPase regulator). The compounds cgmp and ornithine have been mentioned in the context of this disorder. Related mouse phenotypes are nervous system and vision/eye.

Description from OMIM:47 300029

Aliases & Classifications for Retinitis Pigmentosa 3

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Sources:
43NIH Rare Diseases, 47OMIM, 45Novoseek, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases


Aliases & Descriptions:

retinitis pigmentosa 3 43 47 45 62
choroidoretinal degeneration with retinal reflex in heterozygous women 43
rp3 43


Related Diseases for Retinitis Pigmentosa 3

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 11 Retinitis Pigmentosa 12
Retinitis Pigmentosa 13 Retinitis Pigmentosa 14
Retinitis Pigmentosa 15 Retinitis Pigmentosa 17
Retinitis Pigmentosa 18 Retinitis Pigmentosa 19
Retinitis Pigmentosa 2, X Linked Retinitis Pigmentosa 20
Retinitis Pigmentosa 22 Retinitis Pigmentosa 23
Retinitis Pigmentosa 24 Retinitis Pigmentosa 25
Retinitis Pigmentosa 26 Retinitis Pigmentosa 28
Retinitis Pigmentosa 29 retinitis pigmentosa 3
Retinitis Pigmentosa 30 Retinitis Pigmentosa 31
Retinitis Pigmentosa 32 Retinitis Pigmentosa 33
Retinitis Pigmentosa 34 Retinitis Pigmentosa 35
Retinitis Pigmentosa 36 Retinitis Pigmentosa 4
Retinitis Pigmentosa 41 Retinitis Pigmentosa 6
Retinitis Pigmentosa 7 Retinitis Pigmentosa 9
Prph2-Related Retinitis Pigmentosa Rho-Related Retinitis Pigmentosa
Rp1-Related Retinitis Pigmentosa Prpf8-Related Retinitis Pigmentosa
Prpf3-Related Retinitis Pigmentosa Crb1-Related Retinitis Pigmentosa
Abca4-Related Retinitis Pigmentosa Rpe65-Related Retinitis Pigmentosa
Rpgr-Related Retinitis Pigmentosa Impdh1-Related Retinitis Pigmentosa
Rp2-Related Retinitis Pigmentosa Prpf31-Related Retinitis Pigmentosa
Cnga1-Related Retinitis Pigmentosa Cngb1-Related Retinitis Pigmentosa
Rgr-Related Retinitis Pigmentosa Pde6a-Related Retinitis Pigmentosa
Mertk-Related Retinitis Pigmentosa Ush2a-Related Retinitis Pigmentosa
Pde6b-Related Retinitis Pigmentosa Nr2e3-Related Retinitis Pigmentosa
Crx-Related Retinitis Pigmentosa Tulp1-Related Retinitis Pigmentosa
Ca4-Related Retinitis Pigmentosa Fscn2-Related Retinitis Pigmentosa
Nrl-Related Retinitis Pigmentosa Rom1-Related Retinitis Pigmentosa
Sema4a-Related Retinitis Pigmentosa Topors-Related Retinitis Pigmentosa
Rp9-Related Retinitis Pigmentosa Aipl1-Related Retinitis Pigmentosa
Guca1b-Related Retinitis Pigmentosa Eys-Related Retinitis Pigmentosa
Snrnp200-Related Retinitis Pigmentosa Klhl7-Related Retinitis Pigmentosa
Best1-Related Retinitis Pigmentosa Cerkl-Related Retinitis Pigmentosa
Prom1-Related Retinitis Pigmentosa C2orf71-Related Retinitis Pigmentosa
Ttc8-Related Retinitis Pigmentosa Sag-Related Retinitis Pigmentosa
Idh3b-Related Retinitis Pigmentosa Clrn1-Related Retinitis Pigmentosa
Fam161a-Related Retinitis Pigmentosa Impg2-Related Retinitis Pigmentosa
Lrat-Related Retinitis Pigmentosa Spata7-Related Retinitis Pigmentosa
Znf513-Related Retinitis Pigmentosa Dhdds-Related Retinitis Pigmentosa
Prcd-Related Retinitis Pigmentosa Rbp3-Related Retinitis Pigmentosa
Pde6g-Related Retinitis Pigmentosa Prpf6-Related Retinitis Pigmentosa
Rdh12-Related Retinitis Pigmentosa Mak-Related Retinitis Pigmentosa
C8orf37-Related Retinitis Pigmentosa Arl6-Related Retinitis Pigmentosa
Retinitis Pigmentosa 67 Retinitis Pigmentosa 39
Retinitis Pigmentosa 58 Retinitis Pigmentosa 54
Retinitis Pigmentosa 38 Retinitis Pigmentosa 47
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 61 Retinitis Pigmentosa 68
Retinitis Pigmentosa-40 Retinitis Pigmentosa 49
Retinitis Pigmentosa, Juvenile Retinitis Pigmentosa 43
Retinitis Pigmentosa 62 Retinitis Pigmentosa 48
Retinitis Pigmentosa 63 Retinitis Pigmentosa 42
Retinitis Pigmentosa 10 Retinitis Pigmentosa 64
Retinitis Pigmentosa 66 Retinitis Pigmentosa 44
Retinitis Pigmentosa 65 Retinitis Pigmentosa-50
Retinitis Pigmentosa 27 Retinitis Pigmentosa 51
Retinitis Pigmentosa 37 Retinitis Pigmentosa 45
Retinitis Pigmentosa 57 Retinitis Pigmentosa 46
Retinitis Pigmentosa 69 Retinitis Pigmentosa 60
Retinitis Pigmentosa 2

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1night blindness29.9RPGR, ABCA4
2blindness29.9ABCA4, RPGR, RPGRIP1
3retinitis pigmentosa10.4
4retinitis10.4
5rp1-related retinitis pigmentosa10.1
6rpgr-related retinitis pigmentosa10.1
7rp2-related retinitis pigmentosa10.1
8cnga1-related retinitis pigmentosa10.1
9cngb1-related retinitis pigmentosa10.1
10rgr-related retinitis pigmentosa10.1
11pde6a-related retinitis pigmentosa10.1
12crx-related retinitis pigmentosa10.1
13rom1-related retinitis pigmentosa10.1
14aipl1-related retinitis pigmentosa10.1
15guca1b-related retinitis pigmentosa10.1
16snrnp200-related retinitis pigmentosa10.1
17best1-related retinitis pigmentosa10.1
18sag-related retinitis pigmentosa10.1
19clrn1-related retinitis pigmentosa10.1
20fam161a-related retinitis pigmentosa10.1
21lrat-related retinitis pigmentosa10.1
22spata7-related retinitis pigmentosa10.1
23prcd-related retinitis pigmentosa10.1
24rbp3-related retinitis pigmentosa10.1
25prpf6-related retinitis pigmentosa10.1
26mak-related retinitis pigmentosa10.1
27c8orf37-related retinitis pigmentosa10.1
28duchenne muscular dystrophy10.0RPGR, DMD
29congenital stationary night blindness10.0
30cone-rod dystrophy10.0
31herpes simplex10.0
32x-linked congenital stationary night blindness10.0
33ciliary dyskinesia, primary, 1, with or without situs inversus10.0
34leber congenital amaurosis10.0RPGRIP1, RPGR
35chronic granulomatous disease10.0DMD, RPGR
36nephronophthisis10.0RPGRIP1, RPGR, IQCB1
37cone-rod dystrophy 29.9RPGRIP1, RPGR, ABCA4
38fundus dystrophy9.9RPGRIP1, RPGR, ABCA4
39retinal degeneration9.9RPGRIP1, RPGR, ABCA4
40rhyns syndrome9.8ABCA4, DMD, IQCB1, RPGR, RPGRIP1

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



Diseases related to retinitis pigmentosa 3

Symptoms for Retinitis Pigmentosa 3

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Sources:
47OMIM
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Clinical features from OMIM:

300029

Drugs & Therapeutics for Retinitis Pigmentosa 3

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Retinitis Pigmentosa 3

Search NIH Clinical Center for Retinitis Pigmentosa 3

Genetic Tests for Retinitis Pigmentosa 3

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Anatomical Context for Retinitis Pigmentosa 3

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Animal Models for Retinitis Pigmentosa 3 or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Retinitis Pigmentosa 3:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.1RPGRIP1, RPGR, DMD, ABCA4
2MP:00053917.8RPGRIP1, RPGR, DMD, ABCA4

Publications for Retinitis Pigmentosa 3

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Sources:
52PubMed
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Articles related to Retinitis Pigmentosa 3:

idTitleAuthorsYear
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

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 3:

64 (show all 24)
id Symbol AA change Variation ID SNP ID
1RPGRp.Phe130CysVAR_006850
2RPGRp.Pro235SerVAR_006851
3RPGRp.Gly275SerVAR_006852
4RPGRp.Gly60ValVAR_008501
5RPGRp.His98GlnVAR_008504
6RPGRp.Gly215ValVAR_008505
7RPGRp.Cys250ArgVAR_008506
8RPGRp.Gly436AspVAR_008510
9RPGRp.Cys302ArgVAR_011561
10RPGRp.Thr99AsnVAR_013625
11RPGRp.Ile289ValVAR_013626
12RPGRp.Gly43GluVAR_018057
13RPGRp.Gly43ArgVAR_018058
14RPGRp.Arg127GlyVAR_018059
15RPGRp.Gly173ArgVAR_018060
16RPGRp.Cys250TyrVAR_018061
17RPGRp.Gly267GluVAR_018063
18RPGRp.Cys302TyrVAR_018064rs62640590
19RPGRp.Asp312AsnVAR_018065
20RPGRp.Asp312TyrVAR_018066
21RPGRp.Gly320ArgVAR_018067
22RPGRp.Ser152LeuVAR_025949
23RPGRp.Gly267ArgVAR_026127
24RPGRp.Glu285GlyVAR_026128

Clinvar genetic disease variations for Retinitis Pigmentosa 3:

1 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1RPGRNM_001034853.1(RPGR): c.2405_2406delAG (p.Glu802Glyfs)deletionPathogenicrs398122960GRCh37Chr X, 38145846: 38145847
2RPGRNM_000328.2(RPGR): c.389T> G (p.Phe130Cys)single nucleotide variantPathogenicrs62638644GRCh37Chr X, 38178162: 38178162
3RPGRNM_000328.2(RPGR): c.703C> T (p.Pro235Ser)single nucleotide variantPathogenicrs62638651GRCh37Chr X, 38169943: 38169943
4RPGRNM_000328.2(RPGR): c.823G> A (p.Gly275Ser)single nucleotide variantPathogenicrs62642057GRCh37Chr X, 38163999: 38163999
5RPGRRPGR, 4-BP DEL, NT1433deletionPathogenic
6RPGRRPGR, IVS10DS, A-G, +3single nucleotide variantPathogenic
7RPGRNM_000328.2(RPGR): c.179G> T (p.Gly60Val)single nucleotide variantPathogenicrs62638634GRCh37Chr X, 38182174: 38182174
8RPGRRPGR, 2-BP DEL, 652AGdeletionPathogenic
9RPGRRPGR, 2-BP DEL, NT1571deletionPathogenic
10RPGRRPGR, EX15ADELdeletionPathogenic
11RPGRNM_000328.2(RPGR): c.296C> A (p.Thr99Asn)single nucleotide variantPathogenicrs62638637GRCh37Chr X, 38180294: 38180294
12RPGRRPGR, 2-BP DEL, 673AGdeletionPathogenic
13RPGRNM_001034853.1(RPGR): c.2650G> T (p.Glu884Ter)single nucleotide variantPathogenicrs137852549GRCh37Chr X, 38145602: 38145602
14RPGRRPGR, 1-BP INS, 173AinsertionPathogenic
15RPGRRPGR, 912G-Tsingle nucleotide variantPathogenic
16RPGRRPGR, IVS9AS, G-A, -55single nucleotide variantPathogenic

Expression for genes affiliated with Retinitis Pigmentosa 3

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Retinitis Pigmentosa 3

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

Pathways for genes affiliated with Retinitis Pigmentosa 3

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Compounds for genes affiliated with Retinitis Pigmentosa 3

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Sources:
45Novoseek, 29IUPHAR, 24HMDB
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Compounds related to Retinitis Pigmentosa 3 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cgmp45 2910.3RPGR, DMD
2ornithine45 2410.0RPGR, DMD

GO Terms for genes affiliated with Retinitis Pigmentosa 3

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Sources:
16Gene Ontology
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Cellular components related to Retinitis Pigmentosa 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:0017509.7RPGR, IQCB1

Biological processes related to Retinitis Pigmentosa 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cilium assemblyGO:0423849.7RPGR, IQCB1
2eye photoreceptor cell developmentGO:0424629.5RPGRIP1, RPGR
3photoreceptor cell maintenanceGO:0454949.1IQCB1, ABCA4
4response to stimulusGO:0508969.1RPGR, RPGRIP1, PDE6D
5visual perceptionGO:0076018.5PDE6D, RPGRIP1, RPGR, ABCA4

Molecular functions related to Retinitis Pigmentosa 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.4PDE6D, RPGRIP1, RPGR, IQCB1, ATL1, DMD

Products for genes affiliated with Retinitis Pigmentosa 3

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  • Antibodies
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Sources for Retinitis Pigmentosa 3

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet