RP
MCID: RTN008
MIFTS: 80

Retinitis Pigmentosa (RP) malady

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

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43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 retinitis pigmentosa 2. 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 nervous system and pigmentation.

Description from OMIM:47 268025, 610359, 606068, 120970, 608380 613582, 613767, 613861, 608133, 600852, 613731, 602772, 180104, 268000, 600132, 600059, 611131, 613617, 612943, 300029, 601718, 610599, 613428, 613581, 613194, 607921, 312600, 613575, 600138, 600105, 610282, 180105, 613464, 613756, 613750, 612572, 609923, 601414, 180100, 613769, 612095, 612712, 613794, 312612, 604393 more

GeneReviews summary for rp-overview

Aliases & Classifications for Retinitis Pigmentosa

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8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 31LifeMap Discovery™, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH
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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 8 19 43 31 62
retinitis pigmentosa 1 9 43 22 47 45 62
retinitis pigmentosa 59 9 22 47 62
cone-rod dystrophy 47 10 45
rod-cone dystrophy 43 20 22
rp 8 43
retinitis pigmentosa type 53 8
retinitis pigmentosa type 59 8
retinitis pigmentosa-1 8
papillorenal syndrome 62
rp1 43


Related Diseases for Retinitis Pigmentosa

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Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 519)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis32.4RP2, RP1, RHO
2retinitis pigmentosa 231.0RP2
3leber congenital amaurosis30.9AIPL1, RPE65, RPGR, RPGRIP1, RHO, IMPDH1
4retinitis pigmentosa 330.9RPGR
5retinal degeneration30.8AIPL1, UNC119, IMPDH1, RPE65, RHO, PRPH2
6blindness30.8RHO, RPGRIP1, AIPL1, RP1, RPE65, RPGR
7night blindness30.8RHO, PRPF3, RP2, RPE65, RPGR
8nephronophthisis30.6RPGR, RPGRIP1
9rhyns syndrome30.6AIPL1, EYS, FLVCR1, TOPORS, FAM161A, PRPF3
10congenital stationary night blindness30.5RPE65, RHO
11fundus albipunctatus30.4PRPH2, RHO
12cone-rod dystrophy 230.1AIPL1, UNC119, PRPH2, CERKL, RPE65, RPGR
13fundus dystrophy30.0RPGR, RPE65, AIPL1, RHO, RPGRIP1
14cone dystrophy10.9
15cone-rod dystrophy x-linked 110.7
16cystoid macular edema10.7
17usher syndrome10.7
18cone-rod dystrophy 310.7
19amelogenesis imperfecta10.7
20cone-rod dystrophy x-linked 310.6
21newfoundland rod-cone dystrophy10.6
22neuropathy ataxia retinitis pigmentosa syndrome10.6
23ataxia10.6
24cone-rod dystrophy 610.6
25cone-rod dystrophy 1210.6
26cone-rod dystrophy 710.6
27cone-rod dystrophy 1110.6
28cone-rod dystrophy 1510.6
29cone-rod dystrophy 1310.6
30posterior column ataxia with retinitis pigmentosa10.6
31cone-rod dystrophy 110.5
32cone-rod dystrophy 1610.5
33microcornea, rod-cone dystrophy, cataract, and posterior staphyloma10.5
34stargardt disease10.5
35choroiditis10.5
36cataract10.5
37macular dystrophy10.5
38cone-rod dystrophy x-linked 210.5
39cone-rod dystrophy 810.5
40cone-rod dystrophy 1010.5
41cone-rod dystrophy10.5
42choroideremia10.5
43posterior column ataxia10.5
44muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.4
45retinitis pigmentosa 1710.4
46retinitis pigmentosa 910.4
47polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.4
48x-linked intellectual disability-retinitis pigmentosa syndrome10.4
49retinitis pigmentosa autosomal recessive10.4
50danon disease10.4

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



Diseases related to retinitis pigmentosa

Symptoms for Retinitis Pigmentosa

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Sources:
47OMIM
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Drugs & Therapeutics for Retinitis Pigmentosa

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Retinitis Pigmentosa

Search NIH Clinical Center 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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31LifeMap Discovery™, 33MalaCards
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MalaCards organs/tissues related to Retinitis Pigmentosa:

33
Retina, Bone, Eye, Testes, Kidney, Skin, Thyroid

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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37MGI
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MGI Mouse Phenotypes related to Retinitis Pigmentosa:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.4RHO, RPGRIP1, RPGR, RPE65, RP1, PRPH2
2MP:00011869.3UNC119, PRPF3, PRPH2, RPE65, RHO
3MP:00053918.8RHO, AIPL1, UNC119, PRPF3, PRPH2, CERKL

Publications for Retinitis Pigmentosa

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Sources:
52PubMed
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Articles related to Retinitis Pigmentosa:

(show top 50)    (show all 1150)
idTitleAuthorsYear
1
Early-onset X-linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene. (24428633)
2014
2
Comments on Letter to the Editor "Unilateral intravitreal dexamethazone implant for bilateral retinitis pigmentosa-related macular edema". (23996148)
2013
3
A historical perspective on the early treatment of night blindness and the use of dubious and unproven treatment strategies for patients with retinitis pigmentosa. (23911150)
2013
4
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. (23143442)
2012
5
Comparison between MP-1 and Humphrey visual field defects in glaucoma and retinitis pigmentosa. (22733099)
2012
6
A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family. (23029027)
2012
7
Mutations in the I^-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa. (21655355)
2011
8
Bilateral presumed astrocytic hamartomas in a patient with retinitis pigmentosa. (22174574)
2011
9
A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa. (21174529)
2011
10
Evolution of an Astrocytic Hamartoma of the Optic Nerve Head in a Patient with Retinitis Pigmentosa - Photographic Documentation over 2 Years of Follow-Up. (21347192)
2011
11
CLRN1 mutations cause nonsyndromic retinitis pigmentosa. (21310491)
2011
12
Novel RPGR gene mutation in a Chinese family with X-linked recessive retinitis pigmentosa]. (21914266)
2011
13
Clinical and Rehabilitative Management of Retinitis Pigmentosa: Up-to-Date. (22131870)
2011
14
The management of "coats' response" in a patient with x-linked retinitis pigmentosa-a case report. (22084788)
2011
15
Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa. (21618346)
2011
16
Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa. (20238057)
2010
17
Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans. (20507925)
2010
18
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. (20537394)
2010
19
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. (21069908)
2010
20
Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue. (19913029)
2010
21
Gene therapy in the Retinal Degeneration Slow model of retinitis pigmentosa. (20238065)
2010
22
Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family. (19710410)
2010
23
Correlation of fundus autofluorescence with photoreceptor morphology and functional changes in eyes with retinitis pigmentosa. (20491687)
2010
24
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. (19520207)
2009
25
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10). (18385099)
2008
26
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. (18836446)
2008
27
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. (18552978)
2008
28
Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. (18806796)
2008
29
Weill-Marchesani syndrome associated with retinitis pigmentosa. (17322607)
2007
30
The novel R252P mutation of the RHO gene in patients with retinitis pigmentosa from Bashkortostan]. (17936999)
2007
31
Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. (17093403)
2006
32
Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects. (17014888)
2006
33
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
34
Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa. (16139010)
2005
35
Retinitis pigmentosa in mevalonate kinase deficiency. (16435210)
2005
36
Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation. (15570217)
2004
37
Treatment of cystoid macular edema related to retinitis pigmentosa with intravitreal triamcinolone acetonide: case report. (15180250)
2003
38
Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. (12362048)
2002
39
Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients. (11910130)
2001
40
Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa. (11708883)
2001
41
Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa. (10711677)
2000
42
A heterozygous novel C253Y mutation in the highly conserved cysteine residues of ROM1 gene is the cause of retinitis pigmentosa in a Spanish family? (10980553)
2000
43
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. (10192380)
1999
44
Analysis of the IRBP gene as a cause of RP in 45 ARRP Spanish families. Autosomal recessive retinitis pigmentosa. Interstitial retinol binding protein. Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa. (9895244)
1998
45
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
46
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. (9070931)
1997
47
Genomic organization of the human TIMP-1 gene. Investigation of a causative role in the pathogenesis of X-linked retinitis pigmentosa 2. (9286280)
1997
48
Prevalence of posterior vitreous detachment in retinitis pigmentosa. (7746622)
1995
49
Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations. (7747760)
1994
50
Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa. (1358680)
1992

Variations for Retinitis Pigmentosa

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

64
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

Clinvar genetic disease variations for Retinitis Pigmentosa:

1 (show all 19)
id Gene Name Type Significance SNP ID Assembly Location
1RHONM_000539.3(RHO): c.403C> T (p.Arg135Trp)single nucleotide variantPathogenicrs104893775GRCh37Chr 3, 129249760: 129249760
2RHONM_000539.3(RHO): c.44A> G (p.Asn15Ser)single nucleotide variantPathogenicrs104893786GRCh37Chr 3, 129247620: 129247620
3PDE6BNM_000283.3(PDE6B): c.1669C> T (p.His557Tyr)single nucleotide variantPathogenicrs121918581GRCh37Chr 4, 655977: 655977
4RPE65NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)single nucleotide variantPathogenicrs121917745GRCh37Chr 1, 68895518: 68895518
5RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
6USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantPathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
7USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
8DHDDSNM_024887.3(DHDDS): c.124A> G (p.Lys42Glu)single nucleotide variantPathogenicrs147394623GRCh37Chr 1, 26764719: 26764719
9USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
10USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
11RP1NM_006269.1(RP1): c.2029C> T (p.Arg677Ter)single nucleotide variantPathogenicrs104894082GRCh37Chr 8, 55538471: 55538471
12RP1RP1, 5-BP DELdeletionPathogenic
13RP1RP1, 4-BP DELdeletionPathogenic
14RP1NM_006269.1(RP1): c.2035C> T (p.Gln679Ter)single nucleotide variantPathogenicrs104894083GRCh37Chr 8, 55538477: 55538477
15RP1NM_006269.1(RP1): c.1118C> T (p.Thr373Ile)single nucleotide variantPathogenicrs77775126GRCh37Chr 8, 55537560: 55537560
16RP1RP1, 4-BP INS, 1461TGAAinsertionPathogenic
17TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
18PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
19RPE65NM_000329.2(RPE65): c.118G> A (p.Gly40Ser)single nucleotide variantPathogenicrs61751281GRCh37Chr 1, 68912520: 68912520

Expression for genes affiliated with Retinitis Pigmentosa

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2BioGPS, 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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50PathCards, 30KEGG, 60Thomson Reuters, 38NCBI BioSystems Database, 55Reactome
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Pathways related to Retinitis Pigmentosa according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Retinol metabolism60
10.1RHO, RPE65
2
Show member pathways
10.1RHO, RPE65

Compounds for genes affiliated with Retinitis Pigmentosa

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45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Retinitis Pigmentosa according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin a45 24 1112.0RHO, RPE65, AIPL1
211-cis-retinol45 2410.8RHO, 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
1axonemeGO:00593010.2RPGRIP1, RP1
2photoreceptor inner segmentGO:00191710.0AIPL1, RP1, RHO
3photoreceptor connecting ciliumGO:0323919.9RP1, FAM161A, TOPORS
4photoreceptor outer segmentGO:0017509.8RHO, RPGR, RP1
5ciliary basal bodyGO:0360649.7RPGR, RP2, FAM161A, TOPORS

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell outer segment organizationGO:03584510.2TOPORS, RP1
2retina development in camera-type eyeGO:06004110.1RPGRIP1, RHO, PRPH2
3retinal cone cell developmentGO:04654910.1RP1, TOPORS
4phototransduction, visible lightGO:00760310.1AIPL1, RP1, RPE65, RHO
5retinal rod cell developmentGO:04654810.0TOPORS, RP1
6response to stimulusGO:05089610.0FAM161A, RPGR, RPGRIP1
7RNA splicingGO:0083809.9RP9, PRPF3, SNRNP200
8eye photoreceptor cell developmentGO:0424629.9RPGR, RPGRIP1
9visual perceptionGO:0076019.1RHO, AIPL1, UNC119, FAM161A, PRPH2, RP2

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055158.0RHO, UNC119, FLVCR1, TOPORS, FAM161A, PRPF3

Products for genes affiliated with Retinitis Pigmentosa

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  • Antibodies
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Sources for Retinitis Pigmentosa

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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