RP3
MCID: RTN058
MIFTS: 28

Retinitis Pigmentosa 3 (RP3) malady

Summaries for Retinitis Pigmentosa 3

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46OMIM, 32MalaCards
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MalaCards: Retinitis Pigmentosa 3, also known as choroidoretinal degeneration with retinal reflex in heterozygous women, is related to retinal disease and night 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 phenotype vision/eye.

Description from OMIM:46 300029

Aliases & Classifications for Retinitis Pigmentosa 3

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Sources:
42NIH Rare Diseases, 46OMIM, 44Novoseek, 60UMLS
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Aliases & Descriptions:

retinitis pigmentosa 3 42 46 44 60
choroidoretinal degeneration with retinal reflex in heterozygous women 42
rp3 42


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 3 Retinitis Pigmentosa 15
Retinitis Pigmentosa 41 Retinitis Pigmentosa 11
Retinitis Pigmentosa 12 Retinitis Pigmentosa 13
Retinitis Pigmentosa 14 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 30
Retinitis Pigmentosa 31 Retinitis Pigmentosa 32
Retinitis Pigmentosa 33 Retinitis Pigmentosa 34
Retinitis Pigmentosa 35 Retinitis Pigmentosa 36
Retinitis Pigmentosa 4 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-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 60
Retinitis Pigmentosa 2

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

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1retinal disease30.1RPGR, ABCA4, RPGRIP1
2night blindness29.9RPGR, ABCA4
3retinitis pigmentosa10.3
4retinitis10.3
5x-linked disease10.1
6prph2-related retinitis pigmentosa10.1
7rho-related retinitis pigmentosa10.1
8crb1-related retinitis pigmentosa10.1
9prpf31-related retinitis pigmentosa10.1
10rp9-related retinitis pigmentosa10.1
11eys-related retinitis pigmentosa10.1
12prom1-related retinitis pigmentosa10.1
13bardet-biedl syndrome10.0RPGRIP1
14cerebral palsy10.0DMD
15leber congenital amaurosis10.0RPGRIP1, RPGR
16primary open angle glaucoma10.0ABCA4
17duchenne muscular dystrophy10.0DMD
18chronic granulomatous disease10.0DMD, RPGR
19congenital stationary night blindness10.0
20cone-rod dystrophy10.0
21cone dystrophy10.0
22herpes simplex10.0
23ciliary dyskinesia, primary, 1, with or without situs inversus10.0
24nephronophthisis10.0RPGR, IQCB1, RPGRIP1
25blindness10.0RPGR, ABCA4, RPGRIP1
26cone-rod dystrophy 210.0ABCA4, RPGR, RPGRIP1
27fundus dystrophy10.0ABCA4, RPGRIP1, RPGR
28retinal degeneration10.0RPGRIP1, ABCA4, RPGR
29rhyns syndrome10.0RPGR, IQCB1, ABCA4, DMD, RPGRIP1

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



Diseases related to retinitis pigmentosa 3

Clinical Features for Retinitis Pigmentosa 3

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Sources:
46OMIM
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Clinical features from OMIM:

300029

Drugs & Therapeutics for Retinitis Pigmentosa 3

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Retinitis Pigmentosa 3

Drug clinical trials:

Search ClinicalTrials for Retinitis Pigmentosa 3

Search NIH Clinical Center for Retinitis Pigmentosa 3

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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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36MGI
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MGI Mouse Phenotypes related to Retinitis Pigmentosa 3:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.2ABCA4, DMD, RPGRIP1, RPGR

Publications for Retinitis Pigmentosa 3

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Genetic Variations for Retinitis Pigmentosa 3

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Retinitis Pigmentosa 3:

62 (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

Expression for genes affiliated with Retinitis Pigmentosa 3

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1BioGPS, 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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44Novoseek, 28IUPHAR, 24HMDB
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Compounds related to Retinitis Pigmentosa 3 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cgmp44 2810.3DMD, RPGR
2ornithine44 2410.0DMD, RPGR

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:0017509.6IQCB1, RPGR

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

idNameGO IDScoreTop Affiliating Genes
1cilium assemblyGO:0423849.6RPGR, IQCB1
2eye photoreceptor cell developmentGO:0424629.6RPGR, RPGRIP1
3response to stimulusGO:0508969.2RPGRIP1, PDE6D, RPGR
4photoreceptor cell maintenanceGO:0454949.1IQCB1, ABCA4
5visual perceptionGO:0076018.6ABCA4, PDE6D, RPGRIP1, RPGR

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

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

Products for genes affiliated with Retinitis Pigmentosa 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinitis Pigmentosa 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet