{"orpha":261501,"name":"Atypical Norrie disease due to Xp11.3 microdeletion","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Atypical Norrie disease due to del(X)(p11.3)","Atypical Norrie disease due to nullisomy Xp11.3"],"definition":"A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261501/","orphanet_url":"https://www.orpha.net/en/disease/detail/261501","names":{"fr":{"name":"Maladie de Norrie atypique due à une microdélétion Xp11.3","synonyms":["Maladie de Norrie atypique due à une del(X)(p11.3)","Maladie de Norrie atypique due à une nullisomie Xp11.3"],"definition":"La maladie de Norrie atypique due à une monosomie Xp11.3 est un syndrome d'anomalie chromosomique rare résultant de la délétion partielle du bras court du chromosome X. Elle se caractérise principalement par une maladie de Norrie classique (malformations rétiniennes bilatérales sévères, opacité du cristallin conduisant à une cécité congénitale, associée parfois à une surdité neurosensorielle progressive et un déficit intellectuel), une microcéphalie, une hypotonie, un retard de croissance et psychomoteur, un déficit intellectuel mental modéré à sévère et un trouble du comportement. Le phénotype clinique est très variable. Une immunodéficience, une épilepsie et un hypogonadisme ont aussi été rapportés."},"de":{"name":"Norrie-Syndrom, atypisches, durch Mikrodeletion Xp11.3","synonyms":["Norrie-Syndrom, atypisches, durch Del(X)(p11.3)","Norrie-Syndrom, atypisches, durch Monosomie Xp11.3"],"definition":"Ein seltene Chromosomenanomalie, die aus der partiellen Deletion des kurzen Arms von Chromosom X resultiert und hauptsächlich durch die klassische Norrie-Krankheit (bilaterale, schwere Netzhautfehlbildungen und Linsentrübungen, die zu angeborener Blindheit führen, gelegentlich in Verbindung mit progressiver sensorineuraler Taubheit und Intelligenzminderung), Mikrozephalie, Hypotonie, psychomotorische und Wachstumsverzögerung, mäßige bis schwere Intelligenzminderung und auffälliges Verhalten gekennzeichnet ist. Der klinische Phänotyp ist sehr variabel und es wurde auch über Immundefizienz, Epilepsie und Hypogonadismus berichtet."},"es":{"name":"Enfermedad de Norrie atípica por microdeleción Xp11.3","synonyms":["Enfermedad de Norrie atípica por nulisomía Xp11.3","Enfermedad de Norrie atípica por del(X)(p11.3)"],"definition":"Ees un síndrome poco frecuente de anomalías cromosómicas resultante de la deleción parcial del brazo corto del cromosoma X. Se caracteriza principalmente por la enfermedad de Norrie clásica (graves malformaciones bilaterales de la retina y opacidad de las lentes que resultan en ceguera congénita, en ocasiones asociada con sordera neurosensorial progresiva y discapacidad intelectual), microcefalia, hipotonía, retraso psicomotor y del crecimiento, discapacidad intelectual de moderada a grave y conducta disruptiva. El fenotipo clínico es altamente variable y también se ha descrito la presencia de inmunodeficiencia, epilepsia e hipogonadismo."},"it":{"name":"Malattia atipica di Norrie da microdelezione Xp11.3","synonyms":["Malattia atipica di Norrie da del(X)(p11.3)","Malattia atipica di Norrie da microdelezione Xp11.3"],"definition":"La malattia atipica di Norrie da nullisomia Xp11.3 è un'anomalia cromosomica rara causata dalla delezione di parte del braccio corto del cromosoma X; è caratterizzata dai segni clinici della malattia di Norrie classica (malformazioni gravi bilaterali della retina e opacità del cristallino che esitano nella cecità congenita, occasionalmente associate a sordità neurosensoriale progressiva e disabilità intellettiva), microcefalia, ipotonia, ritardo psicomotorio e della crescita, handicap mentali e disturbi del comportamento. Il quadro clinico è molto variabile e può comprendere anche l'immunodeficienza, l'epilessia e l'ipogonadismo."},"nl":{"name":"Atypische ziekte van Norrie door Xp11.3-microdeletie","synonyms":["Atypische ziekte van Norrie door del(X)(p11.3)","Atypische ziekte van Norrie door nullisomie Xp11.3"],"definition":"Een zeldzaam syndroom met een chromosomale anomalie als gevolg van de partiële deletie van de korte arm van het X-chromosoom, voornamelijk gekarakteriseerd door klassieke ziekte van Norrie (ernstige, bilaterale malformaties van netvlies en opaciteit van lens die leiden tot congenitale blindheid, soms geassocieerd met progressieve sensorineurale doofheid en intellectuele achterstand), microcefalie, hypotonie, psychomotorische achterstand en groeiachterstand, matige tot ernstige mentale handicap en ongepast gedrag. Het klinisch fenotype is zeer variabel en immuundeficiëntie, epilepsie en hypogonadisme werden ook reeds gerapporteerd."},"pt":{"name":"Doença de Norrie atípica por monossomia Xp11.3"},"pl":{"name":"Atypowa choroba Norriego z powodu monosomii Xp11.3","synonyms":["Atypowa choroba Norriego z powodu del(X)(p11.3)","Atypowa choroba Norriego z powodu mikroduplikacji Xp11.3"]},"cs":{"name":"Atypická Norrieova nemoc způsobená monozomií Xp11.3","synonyms":["Atypická Norrieova nemoc způsobená X11.3 mikrodelecí","Atypická Norrieova nemoc způsobená del(X)(p11.3)"]},"uk":{"name":"Атипова хвороба Норрі внаслідок мікроделеції Xp11.3","synonyms":["Атипова хвороба Норрі через del(X)(p11.3)","Атипова хвороба Норрі внаслідок нулісомії Xp11.3"],"definition":"A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported."},"zh":{"name":"Xp11.3微缺失所致非典型Norrie病","synonyms":["Xp11.3缺体所致非典型Norrie病"],"definition":"一种罕见的染色体异常综合征，由X染色体短臂部分缺失引起，主要特征是经典的Norrie病(双侧严重的视网膜畸形和晶状体混浊导致先天性失明，有时与进行性感觉神经性聋和智力障碍有关)，小头畸形，肌张力低下，精神运动和生长延迟，中度到严重的智力障碍和破坏性行为。临床表型多变，免疫缺陷、癫痫和性腺功能减退也有报道。"},"tr":{"name":"Xp11.3 mikrodelesyonuna bağlı atipik Norrie hastalığı","synonyms":["Del (X) 'e bağlı atipik Norrie hastalığı (p11.3)","Nullisomy Xp11.3'e bağlı atipik Norrie hastalığı"]}},"xrefs":[{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016850","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518083","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263731,"name":"Partial deletion of the short arm of the chromosome X syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}