{"orpha":529808,"name":"Chronic bilirubin encephalopathy","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BIND","Bilirubin-induced neurological dysfunction","CBE","KSD","Kernicterus spectrum disorder"],"definition":"A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-529808/","orphanet_url":"https://www.orpha.net/en/disease/detail/529808","names":{"fr":{"name":"Encéphalopathie bilirubinique chronique","synonyms":["Dysfonction neurologique induite par la bilirubine"],"definition":"Maladie neurologique rare caractérisée par les effets chroniques de la toxicité de la bilirubine dans le globus pallidus, les noyaux sous-thalamiques et d'autres régions du cerveau, à la suite d'une exposition lors la période néonatale, à des taux élevés de bilirubine non conjuguée. Les symptômes apparaissent au cours de la première année de vie après la phase aiguë de l'encéphalopathie bilirubinique. Ils évoluent progressivement sur plusieurs années et incluent les signes d'atteinte extrapyramidale allant de légers à sévères (en particulier la dystonie et l'athétose), les troubles du spectre de la neuropathie auditive et des anomalies oculomotrices et dentaires."},"de":{"name":"Bilirubin-Enzephalopathie, chronische","synonyms":["BIND","Bilirubin-induzierte neurologische Dysfunktion","Kernikterus-Spektrum-Störungen"],"definition":"Eine seltene neurologische Erkrankung, die durch die chronischen Folgen einer Bilirubintoxizität im Globus pallidus, in den subthalamischen Kernen und in anderen Hirnregionen gekennzeichnet ist, nachdem sie in der Neugeborenenperiode hohen Mengen an unkonjugiertem Bilirubin ausgesetzt war. Die Symptome beginnen nach der akuten Phase der Bilirubinenzephalopathie im ersten Lebensjahr, entwickeln sich langsam über mehrere Jahre und umfassen leichte bis schwere extrapyramidale Störungen (insbesondere Dystonie und Athetose), Störungen des auditorischen Neuropathiespektrums sowie okulomotorische und dentale Anomalien."},"es":{"name":"Encefalopatía crónica por bilirrubina","synonyms":["Trastorno del espectro del kernícterus","BIND","CBE","Disfunción neurológica inducida por bilirrubina","Encefalopatía bilirrubínica crónica","KSD"],"definition":"Es una enfermedad neurológica poco frecuente caracterizada por las secuelas crónicas producidas por la toxicidad de la bilirrubina en el globo pálido, en los núcleos subtalámicos y en otras regiones del cerebro, después de la exposición a niveles elevados de bilirrubina no conjugada en el período neonatal. Los síntomas debutan después de la fase aguda de la encefalopatía por bilirrubina en el primer año de vida, evolucionan lentamente durante varios años e incluyen alteraciones extrapiramidales de leves a graves (especialmente distonía y atetosis), trastorno del espectro de la neuropatía auditiva y anomalías oculomotoras y dentales."},"it":{"name":"Encefalopatia bilirubinica cronica","definition":"Si tratta di una malattia neurologica rara, caratterizzata dalle conseguenze croniche della tossicità della bilirubina nel globo pallido, nei nuclei subtalamici e in altre aree del cervello, a seguito dell'esposizione a livelli elevati di bilirubina non coniugata nel periodo neonatale. I sintomi, che esordiscono nel primo anno di vita dopo la fase acuta dell'encefalopatia bilirubinica, si evolvono lentamente nell'arco di diversi anni, e comprendono i sintomi extrapiramidali lievi o gravi (in particolare la distonia e l'atetosi), i disturbi dello spettro della neuropatia uditiva e le anomalie oculomotorie e dentali."},"nl":{"name":"Chronische bilirubine-encefalopathie","synonyms":["BIND","Bilirubine-geïnduceerde neurologische disfunctie","CBE","KSS","Kernicterus spectrum stoornis"],"definition":"Een zeldzame neurologische aandoening, gekarakteriseerd door de chronische gevolgen van intoxicatie door bilirubine in globus pallidus, nucleus subthalamicus en andere hersengebieden, na blootstelling aan hoge gehaltes van niet-geconjugeerd bilirubine in de neonatale periode. Symptomen vangen aan na de acute fase van bilirubine-encefalopathie in het eerste levensjaar, evolueren traag gedurende meerdere jaren, en omvatten onder meer milde tot ernstige extrapiramidale stoornissen (voornamelijk dystonie en athetose), auditieve neuropathie spectrumstoornis, en oculomotorische en dentale afwijkingen."},"pt":{"name":"Encefalopatia devido a hiperbilirrubinémia crónica"},"pl":{"name":"Przewlekła encefalopatia z bilirubinemią","synonyms":["BIND","Bilirubin-induced neurological dysfunction","CBE","KSD","Kernicterus spectrum disorder"]},"cs":{"name":"Chronická bilirubinová encefalopatie","synonyms":["CBE","KSD","BIND","Porucha ze spektra jádrového ikteru","Neurologická dysfunkce vyvolaná bilirubinem"]},"uk":{"name":"Хронічна білірубінова енцефалопатія","synonyms":["Неврологічна дисфункція, спричинена білірубіном","BIND","CBE","Порушення спектра Керніктеруса","KSD"],"definition":"A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities."},"zh":{"name":"慢性胆红素脑病","synonyms":["胆红素诱导的神经功能障碍"],"definition":"一种罕见的神经系统疾病，其特点是在新生儿期出现高浓度非结合性胆红素，导致苍白球、丘脑底核等脑区发生慢性胆红素中毒。症状在出生后第一年的胆红素脑病急性期后开始出现，数年内缓慢演变，包括轻度至重度的锥体外系障碍(尤其是肌张力失调和手足徐动症)、听觉神经病变谱系障碍、眼球运动和牙齿异常。"},"tr":{"name":"Kronik bilirubin ensefalopatisi","synonyms":["CBE","KSD","BIND","Kernikterus spektrum bozukluğu","Bilirubin uyarılmış nörolojik disfonksiyon"]}},"xrefs":[{"source":"ICD-10","code":"P57.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"KA86","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0035345","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5575229","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":415286,"name":"Bilirubin encephalopathy","classifications":[150,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Canada","status":"Validated","source":"22966025[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Denmark","status":"Validated","source":"15858962[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"United States","status":"Validated","source":"15466085[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"Denmark","status":"Validated","source":"15858962[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"United States","status":"Validated","source":"15466085[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.49,"area":"Canada","status":"Validated","source":"22966025[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-27","source":"20116355[PMID]_20704172[PMID]_20704173[PMID]","terms":[{"hpo":"HP:0006958","label":"Abnormal auditory evoked potentials","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002480","label":"Hepatic encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003265","label":"Neonatal hyperbilirubinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000502","label":"Abnormal conjunctiva morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012696","label":"Abnormal thalamic MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002871","label":"Central apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032106","label":"Conjunctival icterus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001343","label":"Kernicterus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003228","label":"Hypernatremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040187","label":"Neonatal sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025518","label":"Visual gaze preference","frequency":"Occasional (29-5%)","criteria":null}]}}