{"orpha":247522,"name":"Primary ciliary dyskinesia-retinitis pigmentosa syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247522/","orphanet_url":"https://www.orpha.net/en/disease/detail/247522","names":{"fr":{"name":"Syndrome de dyskinésie ciliaire primitive-rétinite pigmentaire","definition":"La dyskinésie ciliaire primitive - rétinite pigmentaire est un dysfonctionnement ciliaire lié à l'X de l'épithélium respiratoire et des photorécepteurs de la rétine, menant à des troubles oculaires (cécité nocturne modérée, restriction du champ de vision, réponses scotopique et photopique à l'électroretinogramme (ERG) réduites de 30% à 60%) associés aux manifestations de la dyskinésie ciliaire primitive (bronchorrhée chronique avec bronchiecstasies et sinusite chronique) et une surdité neurosensorielle."},"de":{"name":"Primäre Ziliendyskinesie-Retinitis pigmentosa-Syndrom","definition":"Primäre Ziliendyyskinesie - Retinitis pigmentosa ist eine X-xhromosomal vererbte Störung des respiratorischen Epithels und der Photorezeptoren in der Retina. Symptome der primären Ziliendyskinesie (chronische Bronchiorrhoe mit Bronchiektasen, chronische Sinusitis) sind mit Manifestationen an den Augen (leichte Nachtblindheit, eingeengtes Gesichtsfeld, auf 30-60% verminderte skotopische und photopische Antwort im ERG) und mit Schallempfindungs-Schwerhörigkeit assoziiert."},"es":{"name":"Síndrome de discinesia ciliar primaria-retinosis pigmentaria","definition":"La discinesia ciliar primaria - retinosis pigmentaria es una disfunción ciliar ligada al X tanto del epitelio respiratorio como de los fotorreceptores de la retina que da lugar a trastornos oculares (ceguera nocturna leve, constricción del campo visual, respuestas ERG fotópicas y escotópicas reducidas al 30-60%) asociados con manifestaciones de discinesias ciliares primarias (broncorrea crónica con bronquiectasia y sinusitis crónica) y pérdida de audición neurosensorial."},"it":{"name":"Discinesia ciliare primitiva - retinite pigmentosa","definition":"La discinesia ciliare primitiva-retinite pigmentosa è una disfunzione ciliare legata all'X, che interessa sia l'epitelio respiratorio che i fotorecettori della retina, provocando disturbi oculari (lieve cecità notturna, costrizione del campo visivo e risposte scotopiche e fotopiche ridotte del 30-60% all'ERG), associata ai sintomi della discinesia ciliare primitiva (broncorrea cronica con bronchiectasia e sinusite cronica) e alla sordità neurosensoriale."},"nl":{"name":"Primaire ciliaire dyskinesie - retinitis pigmentosa-syndroom","definition":"Een X-gebonden disfunctie van cilia van zowel respiratoir epitheel als fotoreceptoren van retina, die leidt tot oculaire aandoeningen (milde nachtblindheid, vernauwing van gezichtsveld, en reductie van scotopische en fotopische ERG-responsen tot 30-60%), geassocieerd met manifestaties van primaire ciliaire dyskinesie (chronische bronchorroe met bronchiëctasie en chronische sinusitis) en sensorineuraal gehoorverlies."},"pt":{"name":"Síndrome de discinésia ciliar primária-retinite pigmentosa"},"pl":{"name":"Pierwotna dyskinezja rzęsek - zwyrodnienie barwnikowe siatkówki"},"cs":{"name":"Primární ciliární dyskineze asociovaná s retinitis pigmentoza"},"uk":{"name":"Синдром первинної циліарної дискінезії - пігментного ретиніту","definition":"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia (see this term) manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss."},"zh":{"name":"原发性纤毛运动障碍-色素视网膜炎综合征","definition":"原发性纤毛运动障碍-视网膜色素变性症是一种X染色体连锁的、呼吸上皮和视网膜感光细胞的纤毛运动障碍，导致眼部疾病（轻度夜盲、视野缩窄、暗视和明视视网膜电图降低至30-60%），伴有与原发性纤毛运动障碍（见该词条）表现（慢性支气管粘液溢伴支气管扩张和慢性鼻窦炎）和感音神经性听力丧失。"},"tr":{"name":"Primer siliyer diskinezi-retinitis pigmentosa sendromu"}},"xrefs":[{"source":"OMIM","code":"300455","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA75.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"569955728"},{"source":"MONDO","code":"0010330","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304829","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":156610,"name":"Rare genetic respiratory disease","classifications":[156]},{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]}],"children":[],"genes":[{"symbol":"RPGR","name":"retinitis pigmentosa GTPase regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12920075[PMID]_16055928[PMID]","hgnc":"10295","ensembl":"ENSG00000156313","omim":"312610","loci":["Xp11.4"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}