{"orpha":2151,"name":"Hirschsprung disease-ganglioneuroblastoma syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2151/","orphanet_url":"https://www.orpha.net/en/disease/detail/2151","names":{"fr":{"name":"Ganglioneurome de Hirschsprung","definition":"Syndrome rare, génétique, de défaut de développement pendant l'embryogenèse, caractérisé par une aganglionose colique totale ou partielle associée à des tumeurs neuroblastiques périphériques, généralement multifocales (ganglioneuroblastome, neuroblastome, ganglioneurome). Le syndrome d'Ondine, à l'origine d'une atteinte respiratoire de sévérité variable, des symptômes d'atteinte cardiovasculaire et ophtalmologique, compatibles avec un dysfonctionnement du système nerveux autonome, est parfois associé."},"de":{"name":"Hirschsprung-Krankheit-Ganglioneuroblastom-Syndrom","definition":"Ein seltener, genetisch bedingter Entwicklungsdefekt während der Embryogenese, der durch eine totale oder partielle Kolonaganglionose in Verbindung mit peripheren, meist multifokalen neuroblastischen Tumoren (Ganglioneuroblastom, Neuroblastom, Ganglioneurom) gekennzeichnet ist. Gelegentlich kommt es zu einem kongenitalen zentralen Hypoventilationssyndrom mit unterschiedlich schwerwiegenden Beeinträchtigungen der Atmung, kardiovaskulären und ophthalmologischen Symptomen, die mit einer Dysfunktion des autonomen Nervensystems einhergehen."},"es":{"name":"Síndrome de enfermedad de Hirschsprung-ganglioneuroma","definition":"Es un síndrome genético y poco frecuente por defectos del desarrollo embrionario caracterizado por aganglionosis total o parcial del colón asociada a tumores neuroblásticos periféricos, por lo general, multifocales (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Ocasionalmente, se asocia al síndrome de hipoventilación central congénito, con compromiso respiratorio de gravedad variable y síntomas cardiovasculares y oftalmológicos compatibles con disfunción del sistema nervioso autónomo."},"it":{"name":"Malattia di Hirschsprung associata al ganglioneuroblastoma","definition":"È un difetto genetico raro di sviluppo dell'embrione, caratterizzato da aganglionosi totale o parziale del colon, associata a tumori neuroblastici periferici, in genere multifocali (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Raramente è anche presente la sindrome da ipoventilazione centrale congenita, con compromissione respiratoria e segni cardiovascolari e oculari di gravità variabile, compatibili con una disfunzione del sistema nervoso autonomo."},"nl":{"name":"Ziekte van Hirschsprung - ganglioneuroblastoom-syndroom","definition":"Een zeldzaam, genetisch syndroom met een ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door volledige of gedeeltelijke colon-aganglionose, geassocieerd met perifere, meestal multifocale, neuroblastische tumoren (ganglioneuroblastoom, neuroblastoom, ganglioneuroom). Occasioneel is congenitale centrale hypoventilatiesyndroom geassocieerd, met ademhalingsproblemen en cardiovasculaire en oftalmologische symptomen met variabele gradaties van ernst, consistent met disfunctie van het autonome zenuwstelsel."},"pt":{"name":"Síndrome de doença Hirschsprung-ganglioneuroblastoma"},"pl":{"name":"Choroba Hirschsprunga - ganglioneuroblastoma"},"cs":{"name":"Syndrom zahrnující Hirschprungovu nemoc a ganglioneuroblastom"},"uk":{"name":"Синдром хвороби Гіршпрунга з гангліоневробластомою","definition":"A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated."},"zh":{"name":"先天性巨结肠-节细胞神经母细胞瘤综合征"},"tr":{"name":"Hirschsprung hastalığı-ganglionöroblastom sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q43.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013082","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538119","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191058","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2695","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":104009,"name":"Rare disease involving intestinal motility","classifications":[152,156,233]},{"orpha":519286,"name":"Rare disorder of the pupil","classifications":[189]},{"orpha":522568,"name":"Rare genetic disorder of the pupil","classifications":[156]}],"children":[],"genes":[{"symbol":"PHOX2B","name":"paired like homeobox 2B","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"15024693[PMID]_26011159[PMID]_28371199[PMID]","hgnc":"9143","ensembl":"ENSG00000109132","omim":"603851","loci":["4p13"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000615","label":"Abnormal pupil morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006747","label":"Ganglioneuroblastoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004375","label":"Neoplasm of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001657","label":"Prolonged QT interval","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null}]}}