{"orpha":1871,"name":"Progressive cone dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cone dystrophy"],"definition":"A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1871/","orphanet_url":"https://www.orpha.net/en/disease/detail/1871","names":{"fr":{"name":"Dystrophie progressive des cônes","synonyms":["Dystrophie des cônes"],"definition":"Dystrophie rétinienne rare caractérisée par une photophobie, une perte progressive de l'acuité visuelle, un nystagmus, des troubles du champ visuel, une vision anormale des couleurs et des signes d'un dysfonctionnement des cônes mis en évidence par des examens psychophysiques et électrophysiologiques. La dystrophie progressive des cônes apparait généralement dans l'enfance ou au début de la vie adulte, et une tendance au dysfonctionnement des photorécepteurs à bâtonnets s'observe chez les patients d'un âge plus avancé."},"de":{"name":"Zapfendystrophie, progressive","synonyms":["Zapfendystrophie"],"definition":"Eine seltene Netzhautdystrophie, die durch Photophobie, fortschreitenden Verlust der Sehschärfe, Nystagmus, Gesichtsfeldanomalien, abnormales Farbensehen und psychophysiologische und elektrophysiologische Hinweise auf eine abnorme Zapfenfunktion gekennzeichnet ist. Die progressive Zapfendystrophie tritt in der Regel in der Kindheit oder im frühen Erwachsenenalter auf, und die Patienten neigen dazu, im späteren Leben eine Funktionsstörung der Stäbchenphotorezeptoren zu entwickeln."},"es":{"name":"Distrofia progresiva de conos","synonyms":["Distrofia de conos"],"definition":"Es una distrofia retiniana poco frecuente caracterizada por fotofobia, pérdida progresiva de la agudeza visual, nistagmo, anomalías del campo visual, alteración de la visión del color y evidencias psicofísicas y electrofisiológicas de disfunción de los conos. La distrofia de conos progresiva suele presentarse en la infancia o en la edad adulta temprana, y los pacientes tienden a desarrollar disfunción de los fotorreceptores bastones en la edad adulta."},"it":{"name":"Distrofia progressiva dei coni","synonyms":["Distrofie dei coni"],"definition":"Si tratta di una distrofia retinica rara, caratterizzata da fotofobia, perdita progressiva dell'acuità visiva, nistagmo, anomalie del campo visivo e della visione dei colori, con evidenze psicofisiche ed elettrofisiologiche di disfunzione dei coni. Di solito la malattia esordisce nell'infanzia o nella prima età adulta; successivamente i pazienti sviluppano una disfunzione dei fotorecettori dei bastoncelli."},"nl":{"name":"Progressieve kegeldystrofie","synonyms":["Kegeldystrofie"],"definition":"Een zeldzame retinadystrofie, gekarakteriseerd door fotofobie, progressief verlies van gezichtsscherpte, nystagmus, afwijkingen van gezichtsveld, abnormaal kleurenzicht, en psychofysisch en elektrofysiologisch bewijs van functiestoornis van kegeltjes. Progressieve kegeldystrofie treedt doorgaans op in de kindertijd of vroege volwassenheid, en patiënten tonen de neiging op latere leeftijd disfunctie van staafjes te ontwikkelen."},"pt":{"name":"Distrofia dos cones progressiva","synonyms":["Distrofia dos cones de início tardio, forma dominante"]},"pl":{"name":"Postępująca dystrofia czopków","synonyms":["Dystrofia stożka"]},"cs":{"name":"Progresivní dystrofie čípků","synonyms":["Dystrofie čípků"]},"uk":{"name":"Прогресуюча колбочкова дистрофія","synonyms":["Конусоподібна дистрофія"],"definition":"A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life."},"zh":{"name":"进行性视锥细胞营养不良","synonyms":["锥体营养不良"]},"tr":{"name":"İlerleyici koni distrofisi","synonyms":["Koni distrofisi"]}},"xrefs":[{"source":"OMIM","code":"180020","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300085","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"304030","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602093","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613093","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"952706927"},{"source":"MONDO","code":"455","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3665342","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11897","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083940","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717324,"name":"Rare genetic isolated progressive generalized retinal disorder","classifications":[156,189]},{"orpha":156171,"name":"Retinal ciliopathy due to mutation in the RPGR gene","classifications":[156]}],"children":[],"genes":[{"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":"15161866[PMID]","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":"14609822[PMID]","hgnc":"4394","ensembl":"ENSG00000134183","omim":"139340","loci":["1p13.3"]},{"symbol":"GUCA1A","name":"guanylate cyclase activator 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9425234[PMID]_15735604[PMID]","hgnc":"4678","ensembl":"ENSG00000048545","omim":"600364","loci":["6p21.1"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null}]}}