{"orpha":2241,"name":"Megacystis-microcolon-intestinal hypoperistalsis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Berdon syndrome","MMIHS","Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome"],"definition":"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2241/","orphanet_url":"https://www.orpha.net/en/disease/detail/2241","names":{"fr":{"name":"Syndrome d'hypopéristaltisme intestinal-microcôlon-mégavessie","synonyms":["MMIHS","Syndrome d'hypopéristaltisme intestinal-mégavessie-microcôlon-hydronéphrose","Syndrome de Berdon"],"definition":"Le syndrome d'hypopéristaltisme intestinal - microcôlon - mégavessie (MMIHS) est une maladie congénitale rare caractérisée par une distension abdominale massive causée par une vessie très dilatée, non obstruée (mégavessie), un microcôlon et un péristaltisme intestinal réduit ou absent."},"de":{"name":"Megazystis-Mikrokolon-intestinale Hypoperistaltik-Syndrom","synonyms":["Berdon-Syndrom","MMIHS","Megazystis - Mikrokolon - intestinale Hypoperistaltik - Hydronephrose"],"definition":"Megazystis-Mikrokolon-Intestinale Hypoperistaltik-Syndrom (MMIHS) ist eine seltene kongenitale Erkrankung und gekennzeichnet durch massive abdominale Auftreibung. Diese ist verursacht durch eine stark erweiterte Harnblase ohne Verengung der Harnröhre, ein Mikrokolon und verringerte oder fehlende Darmperistaltik."},"es":{"name":"Síndrome de megavejiga-microcolon-hipoperistaltismo intestinal","synonyms":["Síndrome de Berdon","Síndrome de megavejiga-microcolon-hipoperistaltismo intestinal-hidronefrosis"],"definition":"El síndrome de megavejiga - microcolon - hipoperistaltismo intestinal (SMMHI) es una enfermedad congénita poco frecuente que se caracteriza por una distensión abdominal masiva causada por una vejiga urinaria dilatada no obstruida, microcolon y ausencia o disminución de la peristalsis intestinal."},"it":{"name":"Sindrome megacisti-microcolon-ipoperistalsi intestinale","synonyms":["Sindrome di Berdon","Sindrome megacisti-microcolon-ipoperistalsi intestinale-idronefrosi"],"definition":"La sindrome megacisti-microcolon-ipoperistalsi intestinale (MMIHS) è una malattia congenita rara, caratterizzata da un'importante distensione addominale causata dall'estrema dilatazione della vescica urinaria, che peraltro non è ostruita, microcolon e diminuzione o assenza della peristalsi intestinale."},"nl":{"name":"Megacystis - microcolon - intestinale hypoperistaltiek-syndroom","synonyms":["Berdonsyndroom","Megacystis - microcolon - intestinale hypoperistaltiek - hydronefrose-syndroom"],"definition":"Megacystis-microcolon-intestinaal hypoperistaltieksyndroom (MMIHS) is een zeldzame aangeboren ziekte gekenmerkt door een enorm abdominale distensie die wordt veroorzaakt door een zeer vergrote niet-geobstrueerde urineblaas, microcolon en verminderde of afwezige darmperistaltiek."},"pt":{"name":"Síndrome de megacistis-microcólon-hipoperistaltismo intestinal","synonyms":["Síndrome Berdon","Síndrome de megacistis-microcólon-hipoperistaltismo intestinal-hidronefrose"]},"pl":{"name":"Zespół pęcherza moczowego olbrzymiego, hipolplazji jelita grubego i zmniejszonej perystaltyki jelit","synonyms":["MMIHS","Zespół Berdona","Zespół pęcherz moczowy olbrzymi-niedorozwój jelita grubego-spowolnienie perystaltyki jelit-wodonercze"]},"cs":{"name":"Syndrom zahrnující megacystis, mikrokolon a hypoperistaltiku střev","synonyms":["MMIHS","Berdonův syndrom","Syndrom zahrnující megacystis, mikrokolon, hypoperistaltiku střev a hydronefrózu"]},"uk":{"name":"Синдром мегацистиса-мікрокишечника-гіпоперистальтики кишечника","synonyms":["Синдром Бердона","Синдром мегацистісу-мікрокишечника-гіпоперистальтики кишечника-гідронефрозу","MMIHS"],"definition":"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis."},"zh":{"name":"巨膀胱-小结肠-肠蠕动迟缓综合征","synonyms":["巨膀胱-小结肠-肠蠕动迟缓-肾盂积水综合征"]},"tr":{"name":"Megasistis-mikrokolon-intestinal hipoperistalsis sendromu","synonyms":["MMIHS","Berdon sendromu","Megasistis-mikrokolon-intestinal hipoperistalsis-hidronefroz sendromu"]}},"xrefs":[{"source":"OMIM","code":"249210","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619351","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619362","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619365","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619431","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q43.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1679999275"},{"source":"MONDO","code":"100354","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536138","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1608393","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3442","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064596","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":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"LMOD1","name":"leiomodin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28292896[PMID]","hgnc":"6647","ensembl":"ENSG00000163431","omim":"602715","loci":["1q32.1"]},{"symbol":"MYH11","name":"myosin heavy chain 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25407000[PMID]","hgnc":"7569","ensembl":"ENSG00000133392","omim":"160745","loci":["16p13.11"]},{"symbol":"MYLK","name":"myosin light chain kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28602422[PMID]","hgnc":"7590","ensembl":"ENSG00000065534","omim":"600922","loci":["3q21.1"]},{"symbol":"ACTG2","name":"actin gamma 2, smooth muscle","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24676022[PMID]","hgnc":"145","ensembl":"ENSG00000163017","omim":"102545","loci":["2p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":230.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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:0003270","label":"Abdominal distention","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100771","label":"Hypoperistalsis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000021","label":"Megacystis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004388","label":"Microcolon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100544","label":"Neoplasm of the heart","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null}]}}