RP
MCID: RTN008
MIFTS: 76

Retinitis Pigmentosa (RP) malady

Summaries for Retinitis Pigmentosa

Sources:
43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 rhyns syndrome and leber congenital amaurosis. 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 skin, kidney and bone marrow, and related mouse phenotypes are vision/eye and pigmentation.

Description from OMIM:47 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

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 31LifeMap Discovery™, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt
See all sources

Aliases & Descriptions:

retinitis pigmentosa 8 19 43 31 61
retinitis pigmentosa 1 9 43 22 47 45 61
retinitis pigmentosa 59 9 22 47 61
cone-rod dystrophy 47 10 45
rod-cone dystrophy 43 20 22
papillorenal syndrome 19 61
rp 8 43
retinitis pigmentosa type 59 8
retinitis pigmentosa type 53 8
retinitis pigmentosa-1 8
rp1 43


Related Diseases for Retinitis Pigmentosa

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

(show top 50)    (show all 495)
idRelated DiseaseScoreTop Affiliating Genes
1rhyns syndrome30.9RP2, RPE65, RP1, RP9, KLHL7, RPGR
2leber congenital amaurosis30.9RPE65, RPGR, RPGRIP1, RHO, AIPL1, IMPDH1
3retinitis pigmentosa 230.7RP2
4blindness30.7AIPL1, RHO, RPGRIP1, RPGR, RPE65, RP1
5retinitis pigmentosa 330.6RPGR
6bardet-biedl syndrome30.5RPGRIP1
7congenital stationary night blindness30.3RHO, RPE65
8fundus albipunctatus30.2RHO, PRPH2
9cone-rod dystrophy 230.2CERKL, AIPL1, PRPH2, RHO, UNC119, RPGRIP1
10retinitis pigmentosa autosomal recessive11.0
11cone-rod dystrophy x-linked 110.7
12usher syndrome10.7
13cystoid macular edema10.7
14amelogenesis imperfecta10.6
15neuropathy ataxia retinitis pigmentosa syndrome10.6
16cone-rod dystrophy 310.6
17cone-rod dystrophy x-linked 310.6
18renal coloboma syndrome10.6
19ataxia10.6
20cone-rod dystrophy 610.6
21cone-rod dystrophy 1210.6
22cone-rod dystrophy 710.6
23cone-rod dystrophy 1110.6
24newfoundland rod-cone dystrophy10.6
25cone-rod dystrophy 1510.6
26cone-rod dystrophy 1310.6
27stargardt disease10.6
28n syndrome10.5
29posterior column ataxia with retinitis pigmentosa10.5
30cone-rod dystrophy 110.5
31cone-rod dystrophy 1610.5
32retinitis pigmentosa 1710.5
33hypertriglyceridemia10.5
34retinitis pigmentosa 1910.5
35macular dystrophy10.5
36cone-rod dystrophy x-linked 210.5
37cone-rod dystrophy 810.5
38cone-rod dystrophy 1010.5
39cone dystrophy10.4
40autosomal dominant disease10.4
41autosomal recessive disease10.4
42posterior column ataxia10.4
43retinitis pigmentosa, digenic10.4
44usher syndrome type i10.4
45muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.4
46retinitis pigmentosa 1110.4
47retinitis pigmentosa, juvenile10.4
48x-linked intellectual disability-retinitis pigmentosa syndrome10.4
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

Sources:
47OMIM
See all sources

Drugs & Therapeutics for Retinitis Pigmentosa

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-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

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

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Retinitis Pigmentosa:

33
Skin, Kidney, Bone marrow, Whole blood, Cortex, Retina, Skeletal muscle, Thyroid, B cells, Ciliary ganglion

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Retinitis Pigmentosa:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539111.0CERKL, RP1, RPE65, RPGR, RPGRIP1, UNC119
2MP:000118610.9PRPF3, PRPH2, RHO, UNC119, RPE65

Publications for Retinitis Pigmentosa

Sources:
51PubMed
See all sources

Articles related to Retinitis Pigmentosa:

(show top 50)    (show all 1174)
idTitleAuthorsYear
1
YouTube as a source of information about retinitis pigmentosa. (24434660)
2014
2
PRPF4 Mutations Cause Autosomal Dominant Retinitis Pigmentosa. (24419317)
2014
3
Dynamics of the rhomboid-like protein RHBDD2 expression in mouse retina and involvement of its human ortholog in retinitis pigmentosa. (23386608)
2013
4
Aberrant dolichol chain lengths as biomarkers for retinitis pigmentosa caused by impaired dolichol biosynthesis. (24078709)
2013
5
Retinal morphological and functional changes in an animal model of retinitis pigmentosa. (23510618)
2013
6
Rhodopsin F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian Family. (24049715)
2013
7
A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family. (23029027)
2012
8
Macular thickness and aging in retinitis pigmentosa. (22388669)
2012
9
Development of a cellular model of rod opsin retinitis pigmentosa. (22183380)
2012
10
Development and degeneration of cone bipolar cells are independent of cone photoreceptors in a mouse model of retinitis pigmentosa. (22952865)
2012
11
Integration-free induced pluripotent stem cells derived from retinitis pigmentosa patient for disease modeling. (23197854)
2012
12
The role of the X-linked retinitis pigmentosa protein RP2 in vesicle traffic and cilia function. (22183373)
2012
13
Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family. (23077400)
2012
14
Frequency Domain Electroretinography in Retinitis Pigmentosa versus Normal Eyes. (22737385)
2012
15
Novel RPGR gene mutation in a Chinese family with X-linked recessive retinitis pigmentosa]. (21914266)
2011
16
Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss. (21487335)
2011
17
Objective visual field determination in forensic ophthalmology with an optimized 4-channel multifocal VEP perimetry system: a case report of a patient with retinitis pigmentosa. (21842405)
2011
18
Linkage analysis and mutation screening of the rhodopsin gene in a Chinese Bai family with autosomal dominant retinitis pigmentosa. (20555336)
2010
19
Inhibition of ceramide biosynthesis preserves photoreceptor structure and function in a mouse model of retinitis pigmentosa. (20937879)
2010
20
Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa. (21179430)
2010
21
Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa. (19933189)
2010
22
Midlife diagnosis of Refsum disease in siblings with retinitis pigmentosa -- the footprint is the clue: a case report. (18336720)
2008
23
Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction. (18580005)
2008
24
Novel syndrome of cataracts, retinitis pigmentosa, late onset deafness and sperm abnormalities: a new Usher syndrome subtype with X-linked inheritance? (17431906)
2007
25
Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa. (17325180)
2007
26
Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutations. (17932850)
2007
27
Retinitis pigmentosa and congenital toxoplasmosis: a rare coexistence. (17595483)
2007
28
Topical dorzolamide for the treatment of cystoid macular edema in patients with retinitis pigmentosa. (16546110)
2006
29
A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa. (17167406)
2006
30
R659S mutation of gammaPKC is susceptible to cell death: implication of this mutation/polymorphism in the pathogenesis of retinitis pigmentosa. (16828200)
2006
31
Retinitis pigmentosa in mevalonate kinase deficiency. (16435210)
2005
32
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families. (15994872)
2005
33
Novel splice-site mutation in the pre-mRNA splicing gene PRPF31 in a Chinese family with autosomal dominant retinitis pigmentosa]. (15924690)
2005
34
Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa]. (12048676)
2002
35
Postmortem study of ataxia with retinitis pigmentosa by mutation of the alpha-tocopherol transfer protein gene. (10727494)
2000
36
Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family. (11135497)
2000
37
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. (10958648)
2000
38
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. (10192380)
1999
39
Optical coherence tomography of cystoid macular edema associated with retinitis pigmentosa. (10458174)
1999
40
Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3). (10094550)
1999
41
Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? (9375913)
1997
42
Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp. (9418727)
1997
43
Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa. (7635666)
1995
44
Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic. (8079997)
1994
45
Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study. (8025041)
1993
46
Abnormal distribution of retinal clusterin in retinitis pigmentosa. (8302166)
1993
47
Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa. (2239970)
1990
48
Familial neuropathy with dementia, retinitis pigmentosa, and dysautonomia. (3860747)
1985
49
Atypical retinitis pigmentosa with hypophosphatasia. (6591589)
1983
50
Rud syndrome: congenital ichthyosis, hypogonadism, mental retardation, retinitis pigmentosa and hypertrophic polyneuropathy. (6182503)
1982

Genetic Variations for Retinitis Pigmentosa

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Retinitis Pigmentosa:

63 (show all 12)
id Symbol AA change Variation SNP ID
1DHDDSp.Lys42GluVAR_065356
2RP1p.Asp202GluVAR_064182
3RP1p.Thr373IleVAR_064183rs77775126
4RP1p.Lys663AsnVAR_064467
5RP1p.Ala669ThrVAR_064468
6RP1p.Asp984GlyVAR_064471
7RP1p.Lys1370GluVAR_064472rs186594858
8RP1p.Arg1652LeuVAR_064473
9RP1p.Leu1808ProVAR_064474
10RP1p.Lys900AsnVAR_066951
11RP1p.Thr2113AsnVAR_066959rs137887415
12RP1p.Leu172ArgVAR_068351rs180729424

Expression for genes affiliated with Retinitis Pigmentosa

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

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 54Reactome
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

Sources:
45Novoseek, 11DrugBank, 24HMDB
See all sources

Compounds related to Retinitis Pigmentosa according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin a45 11 2412.7AIPL1, RHO, RPE65
211-cis-retinol45 2411.3RHO, RPE65

GO Terms for genes affiliated with Retinitis Pigmentosa

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinitis Pigmentosa

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