RP
MCID: RTN008
MIFTS: 81

Retinitis Pigmentosa (RP) malady

Summaries for Retinitis Pigmentosa

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42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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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

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

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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 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

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46OMIM
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Drugs & Therapeutics for Retinitis Pigmentosa

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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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

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Retinitis Pigmentosa:

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

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

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36MGI
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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

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50PubMed
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Articles related to Retinitis Pigmentosa:

(show top 50)    (show all 1171)
idTitleAuthorsYear
1
A large animal model for CNGB1 autosomal recessive retinitis pigmentosa. (23977260)
2013
2
Adaptive optics fundus images of cone photoreceptors in the macula of patients with retinitis pigmentosa. (23378739)
2013
3
Optic disc pit with sectorial retinitis pigmentosa. (23781365)
2013
4
Rapid anterior capsular contraction after phacoemulsification surgery in a patient with retinitis pigmentosa. (23674886)
2013
5
Long-term follow-up for efficacy and safety of treatment of retinitis pigmentosa with valproic acid. (23603755)
2013
6
Unilateral recurrent macular hole in a patient with retinitis pigmentosa: a case report. (23497416)
2013
7
Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population. (22848652)
2012
8
Juxtafoveal choroidal neovascularization associated with retinitis pigmentosa treated with intravitreal bevacizumab. (22149640)
2012
9
Layer-specific blood-flow MRI of retinitis pigmentosa in RCS rats. (22721720)
2012
10
Diagnostic imaging in patients with retinitis pigmentosa. (22449988)
2012
11
Knockout of ccr2 alleviates photoreceptor cell death in a model of retinitis pigmentosa. (23022404)
2012
12
Mice with a D190N mutation in the gene encoding rhodopsin: a model for human autosomal-dominant retinitis pigmentosa. (22252712)
2012
13
Correlation between macular morphology and sensitivity in patients with retinitis pigmentosa and hyperautofluorescent ring. (22110079)
2012
14
Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa. (21801444)
2011
15
Late capsular bag contraction and intraocular lens subluxation in retinitis pigmentosa: a case report. (21320335)
2011
16
The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium. (20106869)
2010
17
Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene. (20547956)
2010
18
Sporadic bilateral retinitis pigmentosa sine pigmento associated with atypical Peutz-Jeghers syndrome. (20379315)
2010
19
Retinitis pigmentosa and bronchiectasis: a case report on a rare association suggestive of a common underlying primary ciliary dyskinesia (PCD). (20480745)
2010
20
Rapid capsular phimosis in retinitis pigmentosa. (20726501)
2010
21
The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network. (20200501)
2010
22
Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV. (19211803)
2009
23
A high-resolution RNA expression atlas of retinitis pigmentosa genes in human and mouse retinas. (18281612)
2008
24
Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa. (18412284)
2008
25
Genotyping and CA4 gene analysis in a Chinese family with retinitis pigmentosa]. (18067080)
2007
26
Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene. (16935610)
2006
27
A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy. (16387007)
2006
28
Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa. (15184964)
2005
29
Recurrent superior oblique myokymia in a patient with retinitis pigmentosa. (15040778)
2004
30
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. (15494742)
2004
31
Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys. (15126168)
2004
32
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. (12714658)
2003
33
Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families. (14516808)
2003
34
Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa. (11465545)
2001
35
Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus. (11474659)
2001
36
A new Leu253Arg mutation in the RP2 gene in a Japanese family with X- linked retinitis pigmentosa. (10634633)
2000
37
A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa. (10690843)
2000
38
A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). (10725384)
2000
39
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. (9855162)
1998
40
Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. (9345108)
1997
41
Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene. (9222238)
1997
42
Severe manifestations in carrier females in X linked retinitis pigmentosa. (9350809)
1997
43
Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. (9331262)
1997
44
Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC). (8646891)
1996
45
A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3. (8659520)
1996
46
Prevalence of posterior vitreous detachment in retinitis pigmentosa. (7746622)
1995
47
Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four. (7819178)
1994
48
A molecular biological study on retinitis pigmentosa]. (7904791)
1993
49
Retinitis pigmentosa and branch retinal artery occlusion with anticardiolipin antibody. Case report. (2923554)
1989
50
Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway. (3594933)
1987

Genetic Variations for Retinitis Pigmentosa

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62UniProtKB/Swiss-Prot
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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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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12EMD Millipore, 37NCBI BioSystems Database, 53Reactome
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Pathways related to Retinitis Pigmentosa according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Retinitis Pigmentosa

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44Novoseek, 11DrugBank, 24HMDB
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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

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16Gene Ontology
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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

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Sources for Retinitis Pigmentosa

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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