Retinitis pigmentosa
ORPHA:791DiseaseAutosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessiveAdolescent, Adult, Childhood
Ассоциированные гены88
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SCAPER | S-phase cyclin A associated protein in the ER | Disease-causing germline mutation(s) in | gene with protein product | 611611 |
| IFT88 | intraflagellar transport 88 | Disease-causing germline mutation(s) in | gene with protein product | 600595 |
| REEP6 | receptor accessory protein 6 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 609346 |
| ARHGEF18 | Rho/Rac guanine nucleotide exchange factor 18 | Disease-causing germline mutation(s) in | gene with protein product | 616432 |
| BBS1 | Bardet-Biedl syndrome 1 | Disease-causing germline mutation(s) in | gene with protein product | 209901 |
| KIAA1549 | KIAA1549 | Disease-causing germline mutation(s) in | gene with protein product | 613344 |
| TMEM216 | transmembrane protein 216 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 613277 |
| IFT43 | intraflagellar transport 43 | Disease-causing germline mutation(s) in | gene with protein product | 614068 |
| AHI1 | Abelson helper integration site 1 | Disease-causing germline mutation(s) in | gene with protein product | 608894 |
| AGBL5 | AGBL carboxypeptidase 5 | Disease-causing germline mutation(s) in | gene with protein product | 615900 |
| CC2D2A | coiled-coil and C2 domain containing 2A | Disease-causing germline mutation(s) in | gene with protein product | 612013 |
| ABCA4 | ATP binding cassette subfamily A member 4 | Disease-causing germline mutation(s) in | gene with protein product | 601691 |
| PRCD | photoreceptor disc component | Disease-causing germline mutation(s) in | gene with protein product | 610598 |
| PRPF3 | pre-mRNA processing factor 3 | Disease-causing germline mutation(s) in | gene with protein product | 607301 |
| PRPF31 | pre-mRNA processing factor 31 | Disease-causing germline mutation(s) in | gene with protein product | 606419 |
| PRPF8 | pre-mRNA processing factor 8 | Disease-causing germline mutation(s) in | gene with protein product | 607300 |
| PRPH2 | peripherin 2 | Disease-causing germline mutation(s) in | gene with protein product | 179605 |
| RDH12 | retinol dehydrogenase 12 | Disease-causing germline mutation(s) in | gene with protein product | 608830 |
| RGR | retinal G protein coupled receptor | Disease-causing germline mutation(s) in | gene with protein product | 600342 |
| RHO | rhodopsin | Disease-causing germline mutation(s) in | gene with protein product | 180380 |
| RLBP1 | retinaldehyde binding protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 180090 |
| ROM1 | retinal outer segment membrane protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 180721 |
| RP1 | RP1 axonemal microtubule associated | Disease-causing germline mutation(s) in | gene with protein product | 603937 |
| RP2 | RP2 activator of ARL3 GTPase | Disease-causing germline mutation(s) in | gene with protein product | 300757 |
| RP9 | RP9 pre-mRNA splicing factor | Disease-causing germline mutation(s) in | gene with protein product | 607331 |
| RPE65 | retinoid isomerohydrolase RPE65 | Disease-causing germline mutation(s) in | gene with protein product | 180069 |
| RPGR | retinitis pigmentosa GTPase regulator | Disease-causing germline mutation(s) in | gene with protein product | 312610 |
| SAG | S-antigen visual arrestin | Disease-causing germline mutation(s) in | gene with protein product | 181031 |
| BBS2 | Bardet-Biedl syndrome 2 | Disease-causing germline mutation(s) in | gene with protein product | 606151 |
| BEST1 | bestrophin 1 | Disease-causing germline mutation(s) in | gene with protein product | 607854 |
| CA4 | carbonic anhydrase 4 | Disease-causing germline mutation(s) in | gene with protein product | 114760 |
| CERKL | CERK like autophagy regulator | Disease-causing germline mutation(s) in | gene with protein product | 608381 |
| TTC8 | tetratricopeptide repeat domain 8 | Disease-causing germline mutation(s) in | gene with protein product | 608132 |
| TULP1 | TUB like protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 602280 |
| USH2A | usherin | Disease-causing germline mutation(s) in | gene with protein product | 608400 |
| CLRN1 | clarin 1 | Disease-causing germline mutation(s) in | gene with protein product | 606397 |
| CNGA1 | cyclic nucleotide gated channel subunit alpha 1 | Disease-causing germline mutation(s) in | gene with protein product | 123825 |
| CRB1 | crumbs cell polarity complex component 1 | Disease-causing germline mutation(s) in | gene with protein product | 604210 |
| CRX | cone-rod homeobox | Disease-causing germline mutation(s) in | gene with protein product | 602225 |
| ARL6 | ARF like GTPase 6 | Disease-causing germline mutation(s) in | gene with protein product | 608845 |
| FSCN2 | fascin actin-bundling protein 2, retinal | Disease-causing germline mutation(s) in | gene with protein product | 607643 |
| HGSNAT | heparan-alpha-glucosaminide N-acetyltransferase | Disease-causing germline mutation(s) in | gene with protein product | 610453 |
| IMPDH1 | inosine monophosphate dehydrogenase 1 | Disease-causing germline mutation(s) in | gene with protein product | 146690 |
| MERTK | MER proto-oncogene, tyrosine kinase | Disease-causing germline mutation(s) in | gene with protein product | 604705 |
| NR2E3 | nuclear receptor subfamily 2 group E member 3 | Disease-causing germline mutation(s) in | gene with protein product | 604485 |
| NRL | neural retina leucine zipper | Disease-causing germline mutation(s) in | gene with protein product | 162080 |
| OFD1 | OFD1 centriole and centriolar satellite protein | Disease-causing germline mutation(s) in | gene with protein product | 300170 |
| PDE6A | phosphodiesterase 6A | Disease-causing germline mutation(s) in | gene with protein product | 180071 |
| PDE6B | phosphodiesterase 6B | Disease-causing germline mutation(s) in | gene with protein product | 180072 |
| SEMA4A | semaphorin 4A | Disease-causing germline mutation(s) in | gene with protein product | 607292 |
| CNGB1 | cyclic nucleotide gated channel subunit beta 1 | Disease-causing germline mutation(s) in | gene with protein product | 600724 |
| TOPORS | TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Disease-causing germline mutation(s) in | gene with protein product | 609507 |
| PROM1 | prominin 1 | Disease-causing germline mutation(s) in | gene with protein product | 604365 |
| LRAT | lecithin retinol acyltransferase | Disease-causing germline mutation(s) in | gene with protein product | 604863 |
| EYS | EGF-like photoreceptor maintenance factor | Disease-causing germline mutation(s) in | gene with protein product | 612424 |
| IDH3B | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Disease-causing germline mutation(s) in | gene with protein product | 604526 |
| SPATA7 | spermatogenesis associated 7 | Disease-causing germline mutation(s) in | gene with protein product | 609868 |
| GUCA1B | guanylate cyclase activator 1B | Disease-causing germline mutation(s) in | gene with protein product | 602275 |
| KLHL7 | kelch like family member 7 | Disease-causing germline mutation(s) in | gene with protein product | 611119 |
| SNRNP200 | small nuclear ribonucleoprotein U5 subunit 200 | Disease-causing germline mutation(s) in | gene with protein product | 601664 |
| PCARE | photoreceptor cilium actin regulator | Disease-causing germline mutation(s) in | gene with protein product | 613425 |
| PDE6G | phosphodiesterase 6G | Disease-causing germline mutation(s) in | gene with protein product | 180073 |
| IMPG2 | interphotoreceptor matrix proteoglycan 2 | Disease-causing germline mutation(s) in | gene with protein product | 607056 |
| FAM161A | FAM161 centrosomal protein A | Disease-causing germline mutation(s) in | gene with protein product | 613596 |
| ZNF513 | zinc finger protein 513 | Disease-causing germline mutation(s) in | gene with protein product | 613598 |
| CDHR1 | cadherin related family member 1 | Disease-causing germline mutation(s) in | gene with protein product | 609502 |
| DHDDS | dehydrodolichyl diphosphate synthase subunit | Disease-causing germline mutation(s) in | gene with protein product | 608172 |
| PRPF6 | pre-mRNA processing factor 6 | Disease-causing germline mutation(s) in | gene with protein product | 613979 |
| MAK | male germ cell associated kinase | Disease-causing germline mutation(s) in | gene with protein product | 154235 |
| RBP3 | retinol binding protein 3 | Disease-causing germline mutation(s) in | gene with protein product | 180290 |
| CFAP418 | cilia and flagella associated protein 418 | Disease-causing germline mutation(s) in | gene with protein product | 614477 |
| IFT140 | intraflagellar transport 140 | Disease-causing germline mutation(s) in | gene with protein product | 614620 |
| ZNF408 | zinc finger protein 408 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 616454 |
| ARL2BP | ARF like GTPase 2 binding protein | Disease-causing germline mutation(s) in | gene with protein product | 615407 |
| NEK2 | NIMA related kinase 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 604043 |
| IFT172 | intraflagellar transport 172 | Disease-causing germline mutation(s) in | gene with protein product | 607386 |
| TUB | TUB bipartite transcription factor | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601197 |
| KIZ | kizuna centrosomal protein | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 615757 |
| SLC7A14 | solute carrier family 7 member 14 | Disease-causing germline mutation(s) in | gene with protein product | 615720 |
| PRPF4 | pre-mRNA splicing tri-snRNP complex factor PRPF4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607795 |
| RP1L1 | RP1 like 1 | Disease-causing germline mutation(s) in | gene with protein product | 608581 |
| AHR | aryl hydrocarbon receptor | Disease-causing germline mutation(s) in | gene with protein product | 600253 |
| COQ8B | coenzyme Q8B | Disease-causing germline mutation(s) in | gene with protein product | 615567 |
| IMPG1 | interphotoreceptor matrix proteoglycan 1 | Disease-causing germline mutation(s) in | gene with protein product | 602870 |
| IDH3A | isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Candidate gene tested in | gene with protein product | 601149 |
| DHX38 | DEAH-box helicase 38 | Disease-causing germline mutation(s) in | gene with protein product | 605584 |
| ARL3 | ARF like GTPase 3 | Disease-causing germline mutation(s) in | gene with protein product | 604695 |
| POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Disease-causing germline mutation(s) in | gene with protein product | 606822 |
Фенотипы (HPO)31
Очень частый (80–99%)13
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000505Visual impairment
HP:0000512Abnormal electroretinogram
HP:0000546Retinal degeneration
HP:0000613Photophobia
HP:0000618Blindness
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0007675Progressive night blindness
HP:0007703Abnormality of retinal pigmentation
HP:0007737Bone spicule pigmentation of the retina
HP:0008046Abnormal retinal vascular morphology
Частый (30–79%)15
HP:0000501Glaucoma
HP:0000543Optic disc pallor
HP:0000563Keratoconus
HP:0000602Ophthalmoplegia
HP:0000662Nyctalopia
HP:0000842Hyperinsulinemia
HP:0001105Retinal atrophy
HP:0007787Posterior subcapsular cataract
HP:0007843Attenuation of retinal blood vessels
HP:0007994Peripheral visual field loss
HP:0011505Cystoid macular edema
HP:0012426Optic disc drusen
HP:0030466Abnormal full-field electroretinogram
HP:0030488Abnormal central response of multifocal electroretinogram
HP:0030610Photoreceptor outer segment loss on macular OCT
Периодический (5–29%)3
HP:0000551Color vision defect
HP:0007663Reduced visual acuity
HP:0030786Photopsia
Эпидемиология9
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 30 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | 26.7 | Worldwide | Value and class |
| Point prevalence | 1-5 / 10 000 | 25.4 | Denmark | Value and class |
| Point prevalence | 1-5 / 10 000 | 22.5 | Norway | Value and class |
| Point prevalence | 1-5 / 10 000 | 21 | United States | Value and class |
| Point prevalence | 1-5 / 10 000 | 20.5 | United Kingdom | Value and class |
| Point prevalence | 1-5 / 10 000 | 26.4 | China | Value and class |
| Point prevalence | 1-5 / 10 000 | 16.7 | Slovenia | Value and class |
| Point prevalence | 1-5 / 10 000 | 11.09 | Korea, Republic of | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)