Leber congenital amaurosis
ORPHA:65DiseaseAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены22
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| USP45 | ubiquitin specific peptidase 45 | Disease-causing germline mutation(s) in | gene with protein product | 618439 |
| TUBB4B | tubulin beta 4B class IVb | Disease-causing germline mutation(s) in | gene with protein product | 602660 |
| SPATA7 | spermatogenesis associated 7 | Disease-causing germline mutation(s) in | gene with protein product | 609868 |
| GDF6 | growth differentiation factor 6 | Disease-causing germline mutation(s) in | gene with protein product | 601147 |
| IFT140 | intraflagellar transport 140 | Disease-causing germline mutation(s) in | gene with protein product | 614620 |
| NMNAT1 | nicotinamide nucleotide adenylyltransferase 1 | Disease-causing germline mutation(s) in | gene with protein product | 608700 |
| RD3 | RD3 regulator of GUCY2D | Disease-causing germline mutation(s) in | gene with protein product | 180040 |
| RDH12 | retinol dehydrogenase 12 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608830 |
| RPE65 | retinoid isomerohydrolase RPE65 | Disease-causing germline mutation(s) in | gene with protein product | 180069 |
| RPGRIP1 | RPGR interacting protein 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605446 |
| CEP290 | centrosomal protein 290 | Disease-causing germline mutation(s) in | gene with protein product | 610142 |
| AIPL1 | AIP like 1 HSP90 co-chaperone | Disease-causing germline mutation(s) in | gene with protein product | 604392 |
| TULP1 | TUB like protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 602280 |
| 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 |
| GUCY2D | guanylate cyclase 2D, retinal | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600179 |
| IMPDH1 | inosine monophosphate dehydrogenase 1 | Disease-causing germline mutation(s) in | gene with protein product | 146690 |
| IQCB1 | IQ motif containing B1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 609237 |
| LCA5 | lebercilin LCA5 | Disease-causing germline mutation(s) in | gene with protein product | 611408 |
| KCNJ13 | potassium inwardly rectifying channel subfamily J member 13 | Disease-causing germline mutation(s) in | gene with protein product | 603208 |
| LRAT | lecithin retinol acyltransferase | Disease-causing germline mutation(s) in | gene with protein product | 604863 |
| PCYT1A | phosphate cytidylyltransferase 1A, choline | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 123695 |
Фенотипы (HPO)25
Очень частый (80–99%)3
HP:0001141Severely reduced visual acuity
HP:0007703Abnormality of retinal pigmentation
HP:0012795Abnormality of the optic disc
Частый (30–79%)15
HP:0000512Abnormal electroretinogram
HP:0000518Cataract
HP:0000540Hypermetropia
HP:0000563Keratoconus
HP:0000613Photophobia
HP:0000639Nystagmus
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001483Eye poking
HP:0002084Encephalocele
HP:0002269Abnormality of neuronal migration
HP:0004374Hemiplegia/hemiparesis
HP:0006817Aplasia/Hypoplasia of the cerebellar vermis
HP:0030211Slow pupillary light response
HP:0030466Abnormal full-field electroretinogram
Периодический (5–29%)7
HP:0000365Hearing impairment
HP:0000543Optic disc pallor
HP:0000729Autistic behavior
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0012426Optic disc drusen
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 100 000 | 2.5 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.23 | United States | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.5 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)