{"orpha":49382,"name":"Achromatopsia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ACHM","Complete or incomplete color blindness","Pingelapese blindness","Rod monochromacy","Rod monochromatism","Total color blindness"],"definition":"A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-49382/","orphanet_url":"https://www.orpha.net/en/disease/detail/49382","names":{"fr":{"name":"Achromatopsie","synonyms":["ACHM","Achromatie","Achromatopsie complète","Cécité de Pingelap","Monochromatie à bâtonnets"],"definition":"L'achromatopsie est une maladie rétinienne rare, autosomique récessive caractérisée par une cécité des couleurs, un nystagmus, une photophobie et une diminution sévère de l'acuité visuelle à cause de l'absence de cônes ou de l'altération de leur fonctionnement."},"de":{"name":"Achromatopsie","synonyms":["ACHM","Farbenblindheit, komplette oder inkomplette","Farbenblindheit, totale","Pingelapesische Blindheit","Stäbchenmonochromasie"],"definition":"Die Achromatopsie (ACHM) ist eine seltene autosomal-rezessiv vererbte Netzhautstörung mit Farbenblindheit, Nystagmus, Photophobie und stark reduzierter Sehschärfe, verursacht durch fehlende oder eingeschränkte Zapfenfunktion."},"es":{"name":"Acromatopsia","synonyms":["ACHM","Ceguera al color completa o incompleta","Ceguera para los colores de Pingelap","Ceguera total al color","Monocromacia de bastones","Monocromatismo de bastones"],"definition":"Es un trastorno retiniano autosómico recesivo poco frecuente caracterizado por daltonismo, nistagmo, fotofobia y agudeza visual seriamente reducida a causa de la ausencia o la deficiencia en el funcionamiento de los conos."},"it":{"name":"Acromatopsia","synonyms":["ACHM","Cecità completa o incompleta ai colori","Cecità pingelapese","Cecità totale ai colori","Monocromasia dei bastoncelli","Monocromatismo dei bastoncelli"],"definition":"L'acromatopsia (ACHM) è un difetto retinico raro, autosomico recessivo, caratterizzato da cecità ai colori, nistagmo, fotofobia e grave riduzione dell'acuità visiva a seguito della mancata o anomala funzione dei coni."},"nl":{"name":"Achromatopsie","synonyms":["ACHM","Pingelapese blindheid","Staafjesmonochromatie","Staafjesmonochromatisme","Totale kleurenblindheid","Volledige of onvolledige kleurenblindheid"],"definition":"Een zeldzame, autosomaal recessieve aandoening van retina, gekarakteriseerd door kleurenblindheid, nystagmus, fotofobie, en ernstig verminderde gezichtsscherpte als gevolg van afwezige of verstoorde functie van kegeltjes."},"pt":{"name":"Acromatópsia","synonyms":["ACHM","Cegueira de cor completa ou incompleta"]},"pl":{"name":"Achromatopsja","synonyms":["ACHM","Całkowita lub niecałkowita ślepota barw","Całkowita ślepota barw","Monochromacja czopków"],"definition":"Achromatopsja jest rzadką chorobą siatkówki uwarunkowaną autosomalnie recesywnie charakteryzującą się ślepotą barw, oczopląsem, wrażliwością na światło i ciężkim obniżeniem ostrości wzroku, powstałą w wyniku braku albo upośledzenie funkcji czopków."},"cs":{"name":"Achromatopsie","synonyms":["ACHM","Kompletní nebo inkompletní barvoslepost","Pingelapeská slepota","Totální barvoslepota","Tyčinkový monochromatismus"]},"uk":{"name":"Ахроматопсія","synonyms":["ACHM","Повний або частковий дальтонізм","Пінгелапова сліпота","Монохромність стрижня","Стрижневий монохроматизм","Тотальна дальтонізм"],"definition":"A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function."},"zh":{"name":"全色盲","synonyms":["完全或不完全色盲"]},"tr":{"name":"Akromatopsi","synonyms":["ACHM","Rod monokromasi","Rod monokromatizması","Pingelapese körlüğü","Toplam renk körlüğü","Tam veya eksik renk körlüğü"]}},"xrefs":[{"source":"OMIM","code":"216900","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"262300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610024","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613093","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613856","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616517","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H53.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"266505357"},{"source":"MONDO","code":"0018852","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0152200","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10000454","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98658,"name":"Color-vision disease","classifications":[156,189]},{"orpha":716367,"name":"Rare isolated non-progressive generalized retinal disorder","classifications":[156,189]}],"children":[],"genes":[{"symbol":"RPGR","name":"retinitis pigmentosa GTPase regulator","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"10295","ensembl":"ENSG00000156313","omim":"312610","loci":["Xp11.4"]},{"symbol":"ATF6","name":"activating transcription factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26029869[PMID]_26063662[PMID]","hgnc":"791","ensembl":"ENSG00000118217","omim":"605537","loci":["1q23.3"]},{"symbol":"CNGA3","name":"cyclic nucleotide gated channel subunit alpha 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2150","ensembl":"ENSG00000144191","omim":"600053","loci":["2q11.2"]},{"symbol":"CNGB3","name":"cyclic nucleotide gated channel subunit beta 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2153","ensembl":"ENSG00000170289","omim":"605080","loci":["8q21.3"]},{"symbol":"GNAT2","name":"G protein subunit alpha transducin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12077706[PMID]","hgnc":"4394","ensembl":"ENSG00000134183","omim":"139340","loci":["1p13.3"]},{"symbol":"PDE6C","name":"phosphodiesterase 6C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19615668[PMID]","hgnc":"8787","ensembl":"ENSG00000095464","omim":"600827","loci":["10q23.33"]},{"symbol":"PDE6H","name":"phosphodiesterase 6H","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"8790","ensembl":"ENSG00000139053","omim":"601190","loci":["12p12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.7,"area":"Worldwide","status":"Validated","source":"ISBN:521590531[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-12","source":"20301591[PMID]_25637600[PMID]_29303385[PMID]","terms":[{"hpo":"HP:0000539","label":"Abnormality of refraction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030584","label":"Color vision test abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030620","label":"Inner retinal layer loss on macular OCT","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007803","label":"Monochromacy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012043","label":"Pendular nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030465","label":"Undetectable light-adapted electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030825","label":"Absent foveal reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000603","label":"Central scotoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007750","label":"Hypoplasia of the fovea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001103","label":"Abnormal macular morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007695","label":"Abnormal pupillary light reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007843","label":"Attenuation of retinal blood vessels","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025549","label":"Eccentric visual fixation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007814","label":"Retinal pigment epithelial mottling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007722","label":"Retinal pigment epithelial atrophy","frequency":"Very rare (<4-1%)","criteria":null}]}}