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Photoreceptor cells are susceptible to cellular stress - their degeneration and loss is a major cause of blindness. Many genes have identified for the inherited and highly heterogeneous disorders resulting and its patterns of inheritance are varied - some are autosomal dominant (adRP), others are autosomal recessive (arRP), a smaller fraction are X-linked (XLRP) and between 30 to 50% have not yet been classified. Other disorders include Bardet-Biedl syndrome (BBS), macular and age-related macula

Pathway Diagram:

Elsevier Inc. downregulated miRNA ---> upregulated target translation upregulated miRNA ---> downregulated target translation Pde6g other USH genes in RP USH1 interactome Rlbp1 Rpe65 Lrat Rbp3 Rdh12 Abca4 Cnga1 Sag Cngb1 Guca1b Pde6b Pde6a other RP genes Usher Syndromes potential RP miRNA other RP genes ---> Retinitis Pigmentosa downregulated miRNA upregulated target translation upregulated miRNA downregulated target translation potential RP miRNA ---> Retinitis Pigmentosa altered visual phototransduction pathway ---> Retinitis Pigmentosa USH1 interactome ---> Usher Syndromes Retinitis Pigmentosa <--> USH1 interactome altered retinal development altered pre-mRNA splicing altered ciliary transport Retinitis Pigmentosa altered retinoid cycle metabolic pathway altered visual phototransduction pathway Rho altered retinoid cycle metabolic pathway ---> Retinitis Pigmentosa

Genes in Pathway:

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retinitis pigmentosa pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8547535
G Best1 bestrophin 1 JBrowse link 1 226,033,146 226,049,893 RGD:8547535
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8547536
G Clrn1 clarin 1 JBrowse link 2 149,049,925 149,088,787 RGD:8547535
G Cnga1 cyclic nucleotide gated channel alpha 1 JBrowse link 14 38,155,771 38,171,107 RGD:8547535
G Cngb1 cyclic nucleotide gated channel beta 1 JBrowse link 19 10,142,440 10,206,618 RGD:8547535
G Crx cone-rod homeobox JBrowse link 1 77,744,593 77,758,913 RGD:8547535
G Guca1b guanylate cyclase activator 1B JBrowse link 9 15,621,083 15,629,017 RGD:8547535
G Lrat lecithin retinol acyltransferase JBrowse link 2 181,896,304 181,905,366 RGD:8547535
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:8547536
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8547536
G Pde6a phosphodiesterase 6A JBrowse link 18 56,544,652 56,617,480 RGD:8547535
G Pde6b phosphodiesterase 6B JBrowse link 14 2,328,690 2,371,913 RGD:8547535
G Pde6g phosphodiesterase 6G JBrowse link 10 109,620,499 109,625,214 RGD:8547535
G Prpf31 pre-mRNA processing factor 31 JBrowse link 1 64,150,786 64,162,461 RGD:8547535
G Prpf8 pre-mRNA processing factor 8 JBrowse link 10 63,635,239 63,658,360 RGD:8547535
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:8547535
G Rbp3 retinol binding protein 3 JBrowse link 16 10,277,775 10,286,243 RGD:8547535
G Rdh12 retinol dehydrogenase 12 JBrowse link 6 102,392,828 102,405,750 RGD:8547535
G Rho rhodopsin JBrowse link 4 147,832,136 147,837,298 RGD:8547535
G Rlbp1 retinaldehyde binding protein 1 JBrowse link 1 141,097,789 141,111,375 RGD:8547535
G Rp1 RP1, axonemal microtubule associated JBrowse link 5 15,005,028 15,060,508 RGD:8547535
G Rpe65 RPE65, retinoid isomerohydrolase JBrowse link 2 266,141,581 266,169,197 RGD:8547535
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:8547535
G Sag S-antigen visual arrestin JBrowse link 9 94,926,901 94,972,162 RGD:8547535
G Tulp1 tubby like protein 1 JBrowse link 20 7,931,673 7,943,601 RGD:8547535
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8547536
G Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:8547536
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8547535

Additional Elements in Pathway:

(includes Gene Groups, Small Molecules, Other Pathways..etc.)
Object TypePathway ObjectPathway Object Description
Gene Groupother RP genesRP genes in processes/pathways other than phototransduction and visual cycle
Gene GroupUSH1the five genes in USH1 associated with RP
Gene Groupother USH genes in RPThe two genes in USH2 and 3 associated with RP

Pathway Gene Annotations

Disease Annotations Associated with Genes in the retinitis pigmentosa pathway
Disease TermsGene Symbols
age related macular degeneration 2Abca4
Amaurosis Congenita of Leber, Type 2Rpe65
Anterior Segment Dysgenesis 5Prpf8
Autoimmune DiseasesRbp3
basal cell carcinomaRpe65
Best Vitelliform Macular Dystrophy, MultifocalBest1
Bestrophinopathy, Autosomal RecessiveBest1
BlindnessAbca4 , Rpe65
Bothnia Retinal DystrophyRlbp1
Carcinoma, Ductal, BreastLrat , Rp1
Carcinoma, Squamous CellRpe65
Chemical and Drug Induced Liver InjuryLrat
Choroid DiseasesPrph2
Choroidal Dystrophy, Central Areolar 2Prph2
Choroidal sclerosisPrph2
Ciliary Motility DisordersRpgr
Cleft LipAbca4
Cochlear DiseasesPcdh15
Colorectal NeoplasmsAbca4
Combined Saposin DeficiencyCdh23
cone dystrophyAbca4 , Guca1b
Cone Dystrophy, X-Linked, 1Rpgr
cone-rod dystrophyAbca4 , Guca1b
Cone-Rod Dystrophy 2Abca4 , Crx , Guca1b
Cone-Rod Dystrophy 3Abca4
Cone-Rod Dystrophy, X-Linked, 1Rpgr
congenital stationary night blindnessAbca4 , Pde6b , Rbp3 , Rho , Rpgr , Sag
congenital stationary night blindness, autosomal dominant 1Rho
congenital stationary night blindness, autosomal dominant 2Pde6b
cutaneous malignant melanoma, susceptibility to, 1Cdh23 , Guca1b , Ush2a
DeafnessMyo7a , Pcdh15 , Ush1g
Deafness, Autosomal Dominant 11Myo7a
Deafness, Autosomal RecessiveCdh23
Deafness, Autosomal Recessive 12Cdh23
Deafness, Autosomal Recessive 18Ush1c
Deafness, Autosomal Recessive 18AUsh1c
Deafness, Autosomal Recessive 2Myo7a
Deafness, Autosomal Recessive 23Pcdh15
diabetes mellitus, experimentalRpe65
Disease Models, AnimalPde6b
Enhanced S-Cone SyndromePrph2
Eye DiseasesRdh12
Eye Diseases, HereditaryLrat , Rlbp1 , Rpe65
Fundus AlbipunctatusPrph2 , Rho , Rlbp1
Genetic Diseases, InbornCdh23
Growth Hormone-Secreting Pituitary AdenomaCdh23
Hearing LossCdh23 , Myo7a , Pcdh15 , Rpgr , Ush1c , Ush2a
Hearing Loss, Noise-InducedCdh23
Hearing Loss, SensorineuralMyo7a , Ush1c , Ush2a
HIV InfectionsPrpf8
Hyperlipoproteinemia Type IVRp1
Infertility, MaleRpgr
Iron OverloadBest1
Kartagener SyndromeRpgr
Leber Congenital AmaurosisAbca4 , Crx , Guca1b , Lrat , Myo7a , Pde6a , Prph2 , Rdh12 , Rpe65 , Rpgr , Tulp1 , Ush2a
Leber Congenital Amaurosis 13Rdh12
Leber Congenital Amaurosis 14Lrat
Leber Congenital Amaurosis 15Tulp1
Leber Congenital Amaurosis 3Rdh12
Leber Congenital Amaurosis 7Crx
Leukodystrophy, Globoid CellCdh23
Leukodystrophy, MetachromaticCdh23
Liver Cirrhosis, ExperimentalLrat
Loeys-Dietz Syndrome 4Ush2a
Macular DegenerationAbca4 , Best1 , Crx , Prph2 , Rpgr
Macular Degeneration, X-Linked AtrophicRpgr
Macular Dystrophy, Concentric AnnularAbca4 , Best1 , Crx
Mandibulofacial Dysostosis with Mental DeficiencyAbca4
MelanomaCdh23 , Guca1b , Myo7a , Ush2a
Neoplastic Syndromes, HereditaryPde6a
Newfoundland Rod-Cone DystrophyRlbp1
Night BlindnessRho , Rlbp1
Nonsyndromic DeafnessPcdh15 , Ush1c , Ush2a
Nonsyndromic Sensorineural Hearing LossMyo7a
Nystagmus, CongenitalMyo7a
Oguchi DiseaseSag
Optic Atrophy, Hereditary, LeberLrat , Rdh12 , Rpe65
Patterned Dystrophy of Retinal Pigment EpitheliumPrph2
Peripheral Nervous System DiseasesAbca4
primary ciliary dyskinesiaRpgr
prostate cancerCnga1 , Crx , Pde6b , Prph2 , Ush2a
Prostatic NeoplasmsCnga1 , Crx , Pde6b , Prph2 , Ush2a
Respiratory Tract InfectionsRpgr
Retinal DegenerationAbca4 , Crx , Pde6b , Prph2 , Rdh12 , Rho , Rpe65 , Rpgr
Retinal DiseasesCdh23 , Prph2
Retinal DystrophiesAbca4 , Best1 , Cdh23 , Clrn1 , Cnga1 , Cngb1 , Crx , Lrat , Myo7a , Pcdh15 , Pde6a , Pde6b , Prpf31 , Prpf8 , Prph2 , Rbp3 , Rdh12 , Rlbp1 , Rp1 , Rpe65 , Rpgr , Ush1c , Ush2a
retinal dystrophy, early onset severeAbca4
Retinitis PigmentosaAbca4 , Best1 , Cdh23 , Clrn1 , Cnga1 , Cngb1 , Crx , Guca1b , Lrat , Myo7a , Pcdh15 , Pde6a , Pde6b , Pde6g , Prpf31 , Prpf8 , Prph2 , Rbp3 , Rdh12 , Rho , Rlbp1 , Rp1 , Rpe65 , Rpgr , Sag , Tulp1 , Ush1c , Ush1g , Ush2a
Retinitis Pigmentosa 1Rp1
Retinitis Pigmentosa 11Prpf31
Retinitis Pigmentosa 13Prpf8
Retinitis Pigmentosa 14Tulp1
Retinitis Pigmentosa 19Abca4
Retinitis pigmentosa 20Rpe65
Retinitis Pigmentosa 3Rpgr
Retinitis Pigmentosa 39Ush2a
Retinitis Pigmentosa 4Rho
Retinitis Pigmentosa 40Pde6b
Retinitis Pigmentosa 43Pde6a
Retinitis Pigmentosa 45Cngb1
Retinitis Pigmentosa 47Sag
Retinitis Pigmentosa 48Guca1b
Retinitis Pigmentosa 49Cnga1 , Cngb1
Retinitis Pigmentosa 50Best1
Retinitis Pigmentosa 57Pde6g
Retinitis Pigmentosa 61Clrn1
Retinitis Pigmentosa 66Rbp3
Retinitis Pigmentosa 7Prph2
Retinitis Pigmentosa 7 with Bull'S-Eye MaculopathyPrph2
Retinitis Pigmentosa 7, DigenicPrph2
Retinitis Pigmentosa, ConcentricBest1
Retinitis Pigmentosa, Late-Onset DominantPrph2
Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or without DeafnessRpgr
retinitis pigmentosa-deafness syndromeCdh23 , Clrn1 , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a
Skin Creases, Congenital Symmetric Circumferential, 2Rp1
Smith-Magenis SyndromePde6g , Ush1g
Stargardt diseaseAbca4 , Prph2
Stargardt disease 1Abca4 , Prph2
Substance-Related DisordersPcdh15
Usher Syndrome, Type 1Cdh23 , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a
Usher syndrome, type 1BMyo7a , Pcdh15 , Ush1c , Ush1g
Usher syndrome, type 1CUsh1c
Usher Syndrome, Type 1DCdh23 , Pcdh15
Usher Syndrome, Type 1FPcdh15
Usher Syndrome, Type 2Ush2a
Usher Syndrome, Type 2AUsh2a
Usher Syndrome, Type 3Clrn1
Usher Syndrome, Type ID/FCdh23 , Pcdh15
Usher Syndrome, Type IGUsh1g
Usher Syndrome, Type IIIAClrn1
Usher syndromesCdh23 , Clrn1 , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a
UveitisRbp3 , Sag
Uveitis, Autoimmune, ExperimentalRpe65
Vestibular DiseasesMyo7a
Vision DisordersAbca4
Vitamin A DeficiencyLrat
Vitelliform Macular DystrophyBest1 , Prph2
Pathway Annotations Associated with Genes in the retinitis pigmentosa pathway
Phenotype Annotations Associated with Genes in the retinitis pigmentosa pathway

References Associated with the retinitis pigmentosa pathway:

Ontology Path Diagram:

paths to the root

Import into Pathway Studio: