RP
MCID: RTN008
MIFTS: 81

Retinitis Pigmentosa (RP) malady

Summaries for Retinitis Pigmentosa

About this section
Sources:
42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 Retinitis pigmentosa (rp) is the name given to a group of inherited eye diseases that affect the light-sensitive part of the eye (retina). rp causes cells in the retina to breakdown and die, eventually resulting in vision loss. the first sign of rp is usually night blindness. as the condition progresses, affected individuals also develop tunnel vision. sometimes rp occurs by itself (isolated rp), and other times it occurs with additional signs and symptoms (syndromic rp). mutations in at least 50 genes have been found to cause rp. there is no cure for rp, however, there are a few treatment options to slow down the progression of the disease. these options include light avoidance, use of low-vision aids, and vitamin a supplementation. last updated: 10/14/2011

MalaCards: Retinitis Pigmentosa, also known as retinitis pigmentosa 1, is related to retinitis and retinal disease. An important gene associated with Retinitis Pigmentosa is RP1 (retinitis pigmentosa 1 (autosomal dominant)), and among its related pathways are Retinol metabolism and the visual cycle I (vertebrates). The compounds vitamin a and 11-cis-retinol have been mentioned in the context of this disorder. Affiliated tissues include retina, bone and eye, and related mouse phenotypes are vision/eye and pigmentation.

Description from OMIM:46 612095, 613750, 120970, 606068, 612943 312612, 601718, 268000, 613794, 180105, 613581, 180104, 612712, 600138, 613731, 613575, 610359, 180100, 602772, 613617, 268025, 613767, 613194, 610599, 600852, 600105, 613464, 608380, 613769, 611131, 608133, 610282, 601414, 613582, 612572, 312600, 609923, 613861, 613756, 613428, 300029, 607921, 600059, 600132, 604393 more

GeneReviews summary for rp-overview

Aliases & Classifications for Retinitis Pigmentosa

About this section
Sources:
46OMIM, 10DISEASES, 44Novoseek, 8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 30LifeMap Discovery™, 60UMLS, 9diseasecard, 22GTR, 20GeneTests, 56SNOMED-CT, 34MeSH, 39NCIt
See all sources

Aliases & Descriptions:

retinitis pigmentosa 8 19 42 30 60
retinitis pigmentosa 1 9 42 22 46 44 60
retinitis pigmentosa 59 9 22 46 60
cone-rod dystrophy 46 10 44
rod-cone dystrophy 42 20 22
rp 8 42
retinitis pigmentosa type 59 8
retinitis pigmentosa type 53 8
retinitis pigmentosa-1 8
papillorenal syndrome 60
rp1 42


Related Diseases for Retinitis Pigmentosa

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 501)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis32.2RHO, RP2, RP1
2retinal disease31.3RP2, RPE65, RP1, RPGR, RPGRIP1, RHO
3retinal degeneration31.2RP2, RP1, RPE65, RPGR, IMPDH1, AIPL1
4leber congenital amaurosis30.9RPE65, RPGRIP1, RHO, AIPL1, IMPDH1, RPGR
5rhyns syndrome30.9EYS, RPGRIP1, RPGR, RP2, RPE65, RP1
6night blindness30.6PRPF3, RPE65, RP2, RPGR, RHO
7retinitis pigmentosa 330.5RPGR
8bardet-biedl syndrome30.4RPGRIP1
9retinitis pigmentosa 230.4RP2
10congenital stationary night blindness30.3RPE65, RHO
11fundus dystrophy30.1RHO, AIPL1, RPGR, RPGRIP1, RPE65
12fundus albipunctatus30.1PRPH2, RHO
13cone-rod dystrophy 230.1CERKL, AIPL1, PRPH2, RHO, UNC119, RPGRIP1
14blindness30.1AIPL1, RHO, RPGRIP1, RPGR, RPE65, RP1
15macular retinal edema10.7
16cone-rod dystrophy x-linked 110.7
17usher syndrome10.7
18cystoid macular edema10.7
19amelogenesis imperfecta10.6
20neuropathy ataxia retinitis pigmentosa syndrome10.6
21cone-rod dystrophy 310.6
22cone-rod dystrophy x-linked 310.6
23renal coloboma syndrome10.6
24cone-rod dystrophy 610.6
25cone-rod dystrophy 1210.6
26cone-rod dystrophy 710.6
27cone-rod dystrophy 1110.6
28newfoundland rod-cone dystrophy10.6
29cone-rod dystrophy 1510.6
30cone-rod dystrophy 1310.6
31posterior column ataxia with retinitis pigmentosa10.5
32cone-rod dystrophy 110.5
33cone-rod dystrophy 1610.5
34stargardt disease10.5
35cataract10.5
36choroiditis10.5
37hypertriglyceridemia10.5
38cone-rod dystrophy x-linked 210.4
39cone-rod dystrophy 810.4
40cone-rod dystrophy 1010.4
41cone-rod dystrophy10.4
42choroideremia10.4
43cone dystrophy10.4
44autosomal dominant disease10.4
45autosomal recessive disease10.4
46muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.4
47x-linked intellectual disability-retinitis pigmentosa syndrome10.4
48retinitis pigmentosa autosomal recessive10.4
49danon disease10.4
50megaloblastic anemia10.4

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



Diseases related to retinitis pigmentosa

Clinical Features for Retinitis Pigmentosa

About this section
Sources:
46OMIM
See all sources

Drugs & Therapeutics for Retinitis Pigmentosa

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Retinitis Pigmentosa

Drug clinical trials:

Search ClinicalTrials for Retinitis Pigmentosa

Search NIH Clinical Center for Retinitis Pigmentosa

Search CenterWatch for Retinitis Pigmentosa

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Retinitis Pigmentosa cell therapies at LifeMap Discovery.

Genetic Tests for Retinitis Pigmentosa

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Retinitis Pigmentosa:

id Genetic test Affiliating Genes
1 Cone-Rod Dystrophy Multi-Gene Panels20
2 Retinitis Pigmentosa 122
3 Retinitis Pigmentosa 5922
4 Cone-Rod Dystrophy22

Anatomical Context for Retinitis Pigmentosa

About this section
Sources:
30LifeMap Discovery™, 32MalaCards
See all sources

MalaCards organs/tissues related to Retinitis Pigmentosa:

32
Retina, Bone, Eye, Testes, Kidney, Cortex, Thyroid, Skin

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Retinitis Pigmentosa:
id TissueAnatomical CompartmentCell Relevance
1 EyeOuter Nuclear LayerCone Precursor Cells Potential therapeutic candidate, affected by disease
2 EyeRetinal Pigmented EpitheliumMature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
3 EyeRetinal Pigmented EpitheliumRetinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate, affected by disease
4 EyeOuter Nuclear LayerRod Precursor Cells Potential therapeutic candidate, affected by disease

Animal Models for Retinitis Pigmentosa or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Retinitis Pigmentosa:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539111.0CERKL, RP1, RPE65, RPGR, RPGRIP1, UNC119
2MP:000118610.9PRPF3, PRPH2, RHO, UNC119, RPE65

Publications for Retinitis Pigmentosa

About this section
Sources:
50PubMed
See all sources

Articles related to Retinitis Pigmentosa:

(show top 50)    (show all 1171)
idTitleAuthorsYear
1
Dominant PRPF31 Mutations Are Hypostatic to a Recessive CNOT3 Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of "Linked Trans-Acting Epistasis". (24116917)
2014
2
Electrophysiological and Histologic Evaluation of the Time Course of Retinal Degeneration in the rd10 Mouse Model of Retinitis Pigmentosa. (23776400)
2013
3
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. (23683095)
2013
4
Tracing the progression of retinitis pigmentosa via photoreceptor interactions. (23063618)
2013
5
Cataract extraction outcomes and the prevalence of zonular insufficiency in retinitis pigmentosa. (23628349)
2013
6
RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism. (22317909)
2012
7
A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa. (21174529)
2011
8
Cystic macular lesions in patients with retinitis pigmentosa. (21670364)
2011
9
Long-term RNA interference gene therapy in a dominant retinitis pigmentosa mouse model. (22042849)
2011
10
Spatial judgments in patients with retinitis pigmentosa. (21073889)
2011
11
Concurrence of retinitis pigmentosa and central serous retinopathy. (23362399)
2011
12
Novel RPGR-ORF15 mutations in X-linked retinitis pigmentosa patients. (21683121)
2011
13
Bilateral spontaneous dislocation of IOLs within the capsular bag to the anterior chamber in a retinitis pigmentosa patient. (22384658)
2011
14
Suppression and replacement gene therapy for autosomal dominant disease in a murine model of dominant retinitis pigmentosa. (21224835)
2011
15
Photoreceptor degeneration changes magnetic resonance imaging features in a mouse model of retinitis pigmentosa. (21590807)
2011
16
Role of MA1ller cells in cone mosaic rearrangement in a rat model of retinitis pigmentosa. (21547953)
2011
17
Tangential vitreous traction: a possible mechanism of development of cystoid macular edema in retinitis pigmentosa. (21386918)
2011
18
Chromatic pupillometry in patients with retinitis pigmentosa. (20869119)
2011
19
Low levels of plasma endothelin-1 in patients with retinitis pigmentosa. (20668718)
2010
20
Transient tractional retinal detachment in an eye with retinitis pigmentosa. (20957057)
2010
21
Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa. (20237254)
2010
22
Structural and functional characteristics in carriers of X-linked retinitis pigmentosa with a tapetal-like reflex. (20829740)
2010
23
Intravitreal ranibizumab in the treatment of cystoid macular edema associated with retinitis pigmentosa. (20028262)
2009
24
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. (18317597)
2008
25
IMP dehydrogenase-linked retinitis pigmentosa. (18600550)
2008
26
Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. (17620573)
2007
27
Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations. (17898302)
2007
28
Treatment of cystoid macular edema in retinitis pigmentosa with intravitreal triamcinolone. (17562986)
2007
29
Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa. (17652713)
2007
30
Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. (17325176)
2007
31
Optical coherence tomography and focal electroretinogram evaluation of cystoid macular edema secondary to retinitis pigmentosa treated with intravitreal triamcinolone: case report. (17191201)
2006
32
A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. (17167404)
2006
33
Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters. (15083297)
2004
34
Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data. (15173948)
2004
35
Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications. (12859409)
2003
36
De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa. (12882812)
2003
37
Deflazacort treatment of cystoid macular edema in patients affected by Retinitis Pigmentosa: a pilot study. (12608650)
2002
38
Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa. (11708883)
2001
39
Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. (11527955)
2001
40
Capsulorhexis phimosis in retinitis pigmentosa despite capsular tension ring implantation. (11687372)
2001
41
Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. (11176989)
2001
42
Retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus not related to mutations in rhodopsine, peripherin/RDS and ROM-1 genes]. (11151159)
2000
43
Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans. (9501213)
1998
44
Structure and function in rhodopsin: correct folding and misfolding in point mutants at and in proximity to the site of the retinitis pigmentosa mutation Leu-125-->Arg in the transmembrane helix C. (8643443)
1996
45
Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations. (7747760)
1994
46
Expression of TIMP3 mRNA is elevated in retinas affected by simplex retinitis pigmentosa. (7925969)
1994
47
Retinitis Pigmentosa Overview (20301590)
1993
48
Analysis of the DNA of patients with retinitis pigmentosa with a cellular retinaldehyde binding protein cDNA. (1973655)
1990
49
Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3. (2333895)
1990
50
Autosomal recessive retinitis pigmentosa and Coats disease: a presumed familial incidence. (973820)
1976

Genetic Variations for Retinitis Pigmentosa

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Retinitis Pigmentosa:

62
id Symbol AA change Variation ID SNP ID
1AIPL1p.Cys239ArgVAR_010139
2AIPL1p.Arg270HisVAR_067165
3DHDDSp.Lys42GluVAR_065356
4RP1p.Asp202GluVAR_064182
5RP1p.Thr373IleVAR_064183rs77775126
6RP1p.Ala669ThrVAR_064468
7RP1p.Asp984GlyVAR_064471
8RP1p.Lys900AsnVAR_066951
9RP1p.Thr2113AsnVAR_066959rs137887415
10RP1p.Leu172ArgVAR_068351rs180729424

Expression for genes affiliated with Retinitis Pigmentosa

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Retinitis Pigmentosa

Search GEO for disease gene expression data for Retinitis Pigmentosa.

Pathways for genes affiliated with Retinitis Pigmentosa

About this section
Sources:
12EMD Millipore, 37NCBI BioSystems Database, 53Reactome
See all sources

Pathways related to Retinitis Pigmentosa according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Retinol metabolism
Hide members
10.6RHO, RPE65
2
Hide members
10.6RHO, RPE65

Compounds for genes affiliated with Retinitis Pigmentosa

About this section
Sources:
44Novoseek, 11DrugBank, 24HMDB
See all sources

Compounds related to Retinitis Pigmentosa according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin a44 11 2412.7AIPL1, RHO, RPE65
211-cis-retinol44 2411.3RHO, RPE65

GO Terms for genes affiliated with Retinitis Pigmentosa

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Retinitis Pigmentosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:00175010.7RHO, RPGR, RP1
2cilium basal bodyGO:03606410.7TOPORS, FAM161A, RPGR
3photoreceptor connecting ciliumGO:03239110.6TOPORS, FAM161A, RP1
4photoreceptor inner segmentGO:00191710.4RP1, RHO, AIPL1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00760111.5AIPL1, RP1, RPE65, RP2, RPGR, RPGRIP1
2retina development in camera-type eyeGO:06004110.9RPGRIP1, RHO, PRPH2, IMPDH1
3response to stimulusGO:05089610.9RPGR, RPGRIP1, EYS, FAM161A
4phototransduction, visible lightGO:00760310.9AIPL1, RHO, RPE65, RP1
5photoreceptor cell outer segment organizationGO:03584510.6RP1, TOPORS
6eye photoreceptor cell developmentGO:04246210.6RPGRIP1, RPGR
7retinal cone cell developmentGO:04654910.5TOPORS, RP1
8retinal rod cell developmentGO:04654810.3TOPORS, RP1

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551511.6DHDDS, RP1, RP2, RPGR, RPGRIP1, FAM161A

Products for genes affiliated with Retinitis Pigmentosa

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinitis Pigmentosa

About this section
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