{"orpha":649,"name":"Norrie disease","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Atrophia bulborum hereditaria","Episkopi blindness","Norrie-Warburg disease"],"definition":"A rare developmental defect during embryogenesis characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-649/","orphanet_url":"https://www.orpha.net/en/disease/detail/649","names":{"fr":{"name":"Maladie de Norrie","synonyms":["Cécité d'Episkopi","Maladie de Norrie-Warburg"],"definition":"Anomalie rare du développement embryonnaire caractérisée par un développement rétinien anormal et une cécité congénitale. Les manifestations les plus souvent associées sont la surdité de perception et le retard de développement, la déficience intellectuelle et/ou les troubles du comportement."},"de":{"name":"Norrie-Syndrom","synonyms":["Atrophia bulborum hereditaria","Blindheit, episkopische","Norrie-Warburg-Krankheit"],"definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die durch eine abnorme Netzhautentwicklung mit angeborener Blindheit gekennzeichnet ist. Häufige Begleiterscheinungen sind Schallempfindungsschwerhörigkeit und Entwicklungsverzögerung, Intelligenzminderung und/oder Verhaltensstörungen."},"es":{"name":"Enfermedad de Norrie","synonyms":["Atrofia bulborum hereditaria","Ceguera de Episkopi","Enfermedad de Norrie-Warburg"],"definition":"Es un defecto del desarrollo embrionario poco frecuente caracterizado por un desarrollo retiniano anómalo con ceguera congénita. Otras manifestaciones asociadas habitualmente incluyen pérdida auditiva neurosensorial y retraso psicomotor, discapacidad intelectual y/o trastornos de conducta."},"it":{"name":"Malattia di Norrie","synonyms":["Atrofia bulbare ereditaria","Cecità di Episkopi","Malattia di Norrie-Warburg"],"definition":"Si tratta di un difetto raro dello sviluppo dell'embrione, caratterizzato da anomalie della retina e cecità congenita. In genere si associa a sordità neurosensoriale, ritardo dello sviluppo, disabilità intellettiva e/o disturbi comportamentali."},"nl":{"name":"Ziekte van Norrie","synonyms":["Atrophia bulborum hereditaria","Episkopi blindheid","Ziekte van Norrie-Warburg"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese, gekarakteriseerd door abnormale ontwikkeling van retina met congenitale blindheid. Gangbaar geassocieerde manifestaties zijn onder meer sensorineuraal gehoorverlies en ontwikkelingsachterstand, intellectuele achterstand en/of gedragsstoornissen."},"pt":{"name":"Doença de Norrie","synonyms":["Pseudoglioma"]},"pl":{"name":"Choroba Norrie'go","synonyms":["Choroba Norriego i Warburga","Dziedziczna atrofia opuszkowa","Ślepota Episkopi"],"definition":"Rzadka wada rozwojowa powstająca w okresie embriogenezy, charakteryzująca się nieprawidłowym rozwojem siatkówki z wrodzoną ślepotą. Do częstych objawów towarzyszących zalicza się odbiorczy ubytek słuchu i opóźnienie rozwoju, niepełnosprawność intelektualną i/lub zaburzenia zachowania."},"cs":{"name":"Norrieho choroba","synonyms":["Atrophia bulborum hereditaria","Episkopiská slepota","Norrieho-Warburgův syndrom","Norrie-Warburgův syndrom","Slepota z Episkopi"]},"uk":{"name":"Хвороба Норрі","synonyms":["Спадкова атрофія бульбочок","Епіскопічна сліпота","Хвороба Норрі-Варбурга"],"definition":"A rare developmental defect during embryogenesis characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders."},"zh":{"name":"诺里病","synonyms":["胎儿虹膜炎综合征"]},"tr":{"name":"Norrie hastalığı","synonyms":["Episkopi körlüğü","Norrie-Warburg hastalığı","Atrophia bulborum hereditaria"]}},"xrefs":[{"source":"OMIM","code":"310600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"312550","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD21.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"676214590"},{"source":"MONDO","code":"0010691","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537849","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266526","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7224","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069760","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1852,"name":"OBSOLETE: X-linked retinal dysplasia","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":716459,"name":"Rare disorder with progressive retinal vasculopathy as a major feature","classifications":[189]},{"orpha":717348,"name":"Rare genetic disorder with progressive retinal vasculopathy as a major feature","classifications":[156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"NDP","name":"norrin cystine knot growth factor NDP","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"9228243[PMID]_20301506[PMID]","hgnc":"7678","ensembl":"ENSG00000124479","omim":"300658","loci":["Xp11.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":400.0,"area":"Worldwide","status":"Validated","source":"16052165[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008046","label":"Abnormal retinal vascular morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007833","label":"Anterior chamber synechiae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000532","label":"Chorioretinal abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007676","label":"Hypoplasia of the iris","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100012","label":"Neoplasm of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000647","label":"Sclerocornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100742","label":"Vascular neoplasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000375","label":"Abnormal cochlea morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004327","label":"Abnormal vitreous humor morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008063","label":"Aplasia/Hypoplasia of the lens","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100639","label":"Erectile dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006887","label":"Intellectual disability, progressive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007968","label":"Remnants of the hyaloid vascular system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005293","label":"Venous insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000615","label":"Abnormal pupil morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010662","label":"Abnormality of the diencephalon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001083","label":"Ectopia lentis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100718","label":"Uterine rupture","frequency":"Occasional (29-5%)","criteria":null}]}}