Cone rod dystrophy
ORPHA:1872DiseaseAutosomal dominant, Autosomal recessive, X-linked recessiveAdolescent, Adult, Childhood
Ассоциированные гены32
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| RPGR | retinitis pigmentosa GTPase regulator | Disease-causing germline mutation(s) in | gene with protein product | 312610 |
| PRPH2 | peripherin 2 | Disease-causing germline mutation(s) in | gene with protein product | 179605 |
| CFAP410 | cilia and flagella associated protein 410 | Disease-causing germline mutation(s) in | gene with protein product | 603191 |
| PITPNM3 | PITPNM family member 3 | Disease-causing germline mutation(s) in | gene with protein product | 608921 |
| OPN1MW | opsin 1, medium wave sensitive | Disease-causing germline mutation(s) in | gene with protein product | 300821 |
| CRX | cone-rod homeobox | Disease-causing germline mutation(s) in | gene with protein product | 602225 |
| NMNAT1 | nicotinamide nucleotide adenylyltransferase 1 | Disease-causing germline mutation(s) in | gene with protein product | 608700 |
| CFAP418 | cilia and flagella associated protein 418 | Disease-causing germline mutation(s) in | gene with protein product | 614477 |
| CDHR1 | cadherin related family member 1 | Disease-causing germline mutation(s) in | gene with protein product | 609502 |
| MFSD8 | major facilitator superfamily domain containing 8 | Disease-causing germline mutation(s) in | gene with protein product | 611124 |
| ABCA4 | ATP binding cassette subfamily A member 4 | Disease-causing germline mutation(s) in | gene with protein product | 601691 |
| RIMS1 | regulating synaptic membrane exocytosis 1 | Disease-causing germline mutation(s) in | gene with protein product | 606629 |
| RPGRIP1 | RPGR interacting protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 605446 |
| CACNA1F | calcium voltage-gated channel subunit alpha1 F | Disease-causing germline mutation(s) in | gene with protein product | 300110 |
| CNGA3 | cyclic nucleotide gated channel subunit alpha 3 | Disease-causing germline mutation(s) in | gene with protein product | 600053 |
| AIPL1 | AIP like 1 HSP90 co-chaperone | Candidate gene tested in | gene with protein product | 604392 |
| GUCA1A | guanylate cyclase activator 1A | Disease-causing germline mutation(s) in | gene with protein product | 600364 |
| GUCY2D | guanylate cyclase 2D, retinal | Disease-causing germline mutation(s) in | gene with protein product | 600179 |
| OPN1LW | opsin 1, long wave sensitive | Disease-causing germline mutation(s) in | gene with protein product | 300822 |
| RAX2 | retina and anterior neural fold homeobox 2 | Disease-causing germline mutation(s) in | gene with protein product | 610362 |
| SEMA4A | semaphorin 4A | Disease-causing germline mutation(s) in | gene with protein product | 607292 |
| PROM1 | prominin 1 | Disease-causing germline mutation(s) in | gene with protein product | 604365 |
| CACNA2D4 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Disease-causing germline mutation(s) in | gene with protein product | 608171 |
| ADAM9 | ADAM metallopeptidase domain 9 | Disease-causing germline mutation(s) in | gene with protein product | 602713 |
| UNC119 | unc-119 lipid binding chaperone | Disease-causing germline mutation(s) in | gene with protein product | 604011 |
| RAB28 | RAB28, member RAS oncogene family | Disease-causing germline mutation(s) in | gene with protein product | 612994 |
| POC1B | POC1 centriolar protein B | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614784 |
| DRAM2 | DNA damage regulated autophagy modulator 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 613360 |
| TTLL5 | tubulin tyrosine ligase like 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 612268 |
| TLCD3B | TLC domain containing 3B | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 615175 |
| UBAP1L | ubiquitin associated protein 1 like | Disease-causing germline mutation(s) in | gene with protein product | — |
| ATF6 | activating transcription factor 6 | Disease-causing germline mutation(s) in | gene with protein product | 605537 |
Фенотипы (HPO)15
Очень частый (80–99%)3
HP:0000613Photophobia
HP:0000662Nyctalopia
HP:0007703Abnormality of retinal pigmentation
Частый (30–79%)9
HP:0000529Progressive visual loss
HP:0000543Optic disc pallor
HP:0000551Color vision defect
HP:0000603Central scotoma
HP:0001105Retinal atrophy
HP:0007641Dyschromatopsia
HP:0007737Bone spicule pigmentation of the retina
HP:0007843Attenuation of retinal blood vessels
HP:0030466Abnormal full-field electroretinogram
Периодический (5–29%)3
HP:0000505Visual impairment
HP:0000639Nystagmus
HP:0012508Metamorphopsia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.5 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)