{"orpha":388,"name":"Hirschsprung disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Aganglionic megacolon","Colonic aganglionosis","Congenital intestinal aganglionosis","HSCR"],"definition":"A rare congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-388/","orphanet_url":"https://www.orpha.net/en/disease/detail/388","names":{"fr":{"name":"Maladie de Hirschsprung","synonyms":["Aganglionose du côlon","Aganglionose intestinale congénitale","HSCR","Mégacôlon aganglionique"],"definition":"Maladie congénitale rare liée à la motilité intestinale, caractérisée par des signes d'occlusion intestinale dus à la présence d'un segment aganglionnaire de longueur variable dans la partie terminale du côlon."},"de":{"name":"Hirschsprung-Krankheit","synonyms":["Aganglionose, intestinale kongenitale","HSCR","Megakolon, aganglionotisches"],"definition":"Eine seltene angeborene Störung der Darmmotilität, die durch Anzeichen einer Darmobstruktion aufgrund des Vorhandenseins eines aganglionären Segments von unterschiedlicher Ausdehnung im Endteil des Dickdarms gekennzeichnet ist."},"es":{"name":"Enfermedad de Hirschsprung","synonyms":["Aganglionosis colónica","Aganglionosis intestinal congénita","HSCR","Megacolon agangliónico"],"definition":"Es un trastorno congénito poco frecuente de la motilidad intestinal caracterizado por signos de obstrucción intestinal debido a la presencia de un segmento agangliónico de extensión variable en la parte terminal del colon."},"it":{"name":"Malattia di Hirschsprung","synonyms":["Aganglionosi del colon","Aganglionosi intestinale congenita","HSCR","Megacolon aganglionico"],"definition":"La malattia di Hirschsprung (HSCR) è una malattia congenita rara della motilità intestinale, caratterizzata da un'ostruzione intestinale secondaria alla presenza di un segmento aganglionare, di misura variabile, nella porzione terminale del colon."},"nl":{"name":"Ziekte van Hirschsprung","synonyms":["Aganglionair megacolon","Aganglionose van colon","Congenitale intestinale aganglionose","HSCR"],"definition":"Een zeldzame congenitale aandoening van darmmotiliteit, gekenmerkt door verschijnselen van darmobstructie als gevolg van de aanwezigheid van een aganglionisch segment met variabele lengte in het terminale deel van colon."},"pt":{"name":"Doença de Hirschsprung","synonyms":["Agangliose intestinal congénita","Megacolon agangliónico"],"definition":"Doença congénita rara da motilidade intestinal, caracterizada por sinais de obstrução intestinal devido à presença de um segmento aganglionar de extensão variável na parte terminal do cólon."},"pl":{"name":"Choroba Hirschsprunga","synonyms":["Aganglioza okrężnicy","HSCR","Wrodzona aganglionoza jelit"]},"cs":{"name":"Hirschsprungova nemoc","synonyms":["Aganglionické megakolon","HSCR","Megacolon congenitum, forma Hirschsprungova nemoc","Vrozená střevní aganglionóza"]},"uk":{"name":"Хвороба Гіршпрунга","synonyms":["Агангліонарний мегаколон","Агангліоноз товстої кишки","Вроджений агангліоноз кишечника","HSCR"],"definition":"A rare congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon."},"zh":{"name":"先天性巨结肠","synonyms":["先天性肠神经节细胞缺失症"]},"tr":{"name":"Hirschsprung hastalığı","synonyms":["HSCR","Aganglionik megakolon","Doğumsal bağırsak aganglionozu"]}},"xrefs":[{"source":"OMIM","code":"142623","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600155","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600156","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606874","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606875","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608462","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611644","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613711","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613712","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613870","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q43.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB16.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1772690306"},{"source":"MONDO","code":"0018309","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006627","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0019569","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6660","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010539","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":104009,"name":"Rare disease involving intestinal motility","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"ABCD1","name":"ATP binding cassette subfamily D member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33151932[PMID]","hgnc":"61","ensembl":"ENSG00000101986","omim":"300371","loci":["Xq28"]},{"symbol":"ATP7A","name":"ATPase copper transporting alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33151932[PMID]","hgnc":"869","ensembl":"ENSG00000165240","omim":"300011","loci":["Xq21.1"]},{"symbol":"ERBB2","name":"erb-b2 receptor tyrosine kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33497358[PMID]","hgnc":"3430","ensembl":"ENSG00000141736","omim":"164870","loci":["17q12"]},{"symbol":"ERBB3","name":"erb-b2 receptor tyrosine kinase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33497358[PMID]","hgnc":"3431","ensembl":"ENSG00000065361","omim":"190151","loci":["12q13.2"]},{"symbol":"RET","name":"ret proto-oncogene","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31609069[PMID]","hgnc":"9967","ensembl":"ENSG00000165731","omim":"164761","loci":["10q11.21"]},{"symbol":"SMO","name":"smoothened, frizzled class receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32413283[PMID]","hgnc":"11119","ensembl":"ENSG00000128602","omim":"601500","loci":["7q32.1"]},{"symbol":"SREBF1","name":"sterol regulatory element binding transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33151932[PMID]","hgnc":"11289","ensembl":"ENSG00000072310","omim":"184756","loci":["17p11.2"]},{"symbol":"ECE1","name":"endothelin converting enzyme 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"20301612[PMID]","hgnc":"3146","ensembl":"ENSG00000117298","omim":"600423","loci":["1p36.12"]},{"symbol":"EDN3","name":"endothelin 3","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"20301612[PMID]","hgnc":"3178","ensembl":"ENSG00000124205","omim":"131242","loci":["20q13.32"]},{"symbol":"EDNRB","name":"endothelin receptor type B","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"20301612[PMID]","hgnc":"3180","ensembl":"ENSG00000136160","omim":"131244","loci":["13q22.3"]},{"symbol":"GDNF","name":"glial cell derived neurotrophic factor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"20301612[PMID]","hgnc":"4232","ensembl":"ENSG00000168621","omim":"600837","loci":["5p13.2"]},{"symbol":"NRTN","name":"neurturin","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"20301612[PMID]","hgnc":"8007","ensembl":"ENSG00000171119","omim":"602018","loci":["19p13.3"]},{"symbol":"SEMA3C","name":"semaphorin 3C","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25839327[PMID]","hgnc":"10725","ensembl":"ENSG00000075223","omim":"602645","loci":["7q21.11"]},{"symbol":"SEMA3D","name":"semaphorin 3D","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25839327[PMID]","hgnc":"10726","ensembl":"ENSG00000153993","omim":"609907","loci":["7q21.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Multigenic/multifactorial","Not applicable"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":13.2,"area":"Europe","status":"Validated","source":"25066220[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":21.0,"area":"United States","status":"Validated","source":"27702942[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":13.2,"area":"Europe","status":"Validated","source":"25066220[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":15.0,"area":"Worldwide","status":"Validated","source":"31644668[PMID]_27702942[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":22.0,"area":"Taiwan, Province of China","status":"Validated","source":"27118113[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":15.0,"area":"Worldwide","status":"Validated","source":"31644668[PMID]_27702942[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-07-02","source":"32965813[PMID]_31791203[PMID]_37828049[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012719","label":"Functional abnormality of the gastrointestinal tract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005214","label":"Intestinal obstruction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034754","label":"Bilious emesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000224","label":"Delayed passage of meconium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031369","label":"Colon perforation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004387","label":"Enterocolitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}