RP3
MCID: RTN058
MIFTS: 21

Retinitis Pigmentosa 3 (RP3) malady

Summaries for Retinitis Pigmentosa 3

Sources:
47OMIM, 33MalaCards
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MalaCards: Retinitis Pigmentosa 3, also known as choroidoretinal degeneration with retinal reflex in heterozygous women, is related to blindness and retinitis pigmentosa. 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:47 300029

Aliases & Classifications for Retinitis Pigmentosa 3

Sources:
43NIH Rare Diseases, 47OMIM, 45Novoseek, 61UMLS
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Aliases & Descriptions:

retinitis pigmentosa 3 43 47 45 61
choroidoretinal degeneration with retinal reflex in heterozygous women 43
rp3 43


Related Diseases for Retinitis Pigmentosa 3

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
rho-related retinitis pigmentosa rp1-related retinitis pigmentosa
rp2-related retinitis pigmentosa nr2e3-related retinitis pigmentosa
ca4-related retinitis pigmentosa rp9-related retinitis pigmentosa
eys-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 with or without situs inversus
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 20)
idRelated DiseaseScoreTop Affiliating Genes
1blindness30.0RPGR, ABCA4, RPGRIP1
2retinitis pigmentosa10.3
3x-linked disease10.1
4metaphyseal chondrodysplasia - retinitis pigmentosa10.1
5congenital stationary night blindness10.0
6cone dystrophy10.0
7ciliary dyskinesia, primary, 1, with or without situs inversus10.0
8bardet-biedl syndrome10.0RPGRIP1
9cerebral palsy10.0DMD
10leber congenital amaurosis10.0RPGRIP1, RPGR
11primary open angle glaucoma10.0ABCA4
12duchenne muscular dystrophy10.0DMD
13chronic granulomatous disease10.0DMD, RPGR
14nephronophthisis10.0RPGR, IQCB1, RPGRIP1
15night blindness10.0RPGR, ABCA4
16cone-rod dystrophy 210.0ABCA4, RPGR, RPGRIP1
17fundus dystrophy10.0ABCA4, RPGRIP1, RPGR
18retinal disease10.0RPGR, ABCA4, RPGRIP1
19retinal degeneration10.0RPGRIP1, ABCA4, RPGR
20rhyns syndrome10.0RPGR, IQCB1, ABCA4, DMD, RPGRIP1

Graphical network of diseases related to Retinitis Pigmentosa 3:



Diseases related to retinitis pigmentosa 3

Clinical Features for Retinitis Pigmentosa 3

Sources:
47OMIM
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Clinical features from OMIM:

300029

Drugs & Therapeutics for Retinitis Pigmentosa 3

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Search CenterWatch for Retinitis Pigmentosa 3

Genetic Tests for Retinitis Pigmentosa 3

Anatomical Context for Retinitis Pigmentosa 3

Animal Models for Retinitis Pigmentosa 3 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Retinitis Pigmentosa 3:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.2ABCA4, DMD, RPGRIP1, RPGR

Publications for Retinitis Pigmentosa 3

Sources:
51PubMed
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Articles related to Retinitis Pigmentosa 3:

idTitleAuthorsYear
1
The retinitis pigmentosa mutation c.3444+1G>A in CNGB1 results in skipping of exon 32. (20126465)
2010

Genetic Variations for Retinitis Pigmentosa 3

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Retinitis Pigmentosa 3:

63 (show all 24)
id Symbol AA change Variation 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

Sources:
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

Compounds for genes affiliated with Retinitis Pigmentosa 3

Sources:
45Novoseek, 29IUPHAR, 24HMDB
See all sources

Compounds related to Retinitis Pigmentosa 3 according to GeneCards/GeneDecks:

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

GO Terms for genes affiliated with Retinitis Pigmentosa 3

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinitis Pigmentosa 3

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet