{"orpha":2604,"name":"Familial visceral myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial hollow visceral myopathy","Hereditary hollow visceral myopathy","Megaduodenum and/or megacystis"],"definition":"Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that may cause chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2604/","orphanet_url":"https://www.orpha.net/en/disease/detail/2604","names":{"fr":{"name":"Myopathie viscérale familiale","synonyms":["Syndrome de mégaduodénum-mégavessie"],"definition":"La myopathie viscérale familiale est une dégénérescence myopathique héréditaire rare des voies gastrointestinales et urinaires, conduisant à une pseudo-obstruction intestinale chronique. Elle se manifeste généralement après la première décennie par un mégaduodénum, une mégavessie et des signes tels qu'une distension et/ou une douleur abdominale, des vomissements, une constipation, une diarrhée, une dysphagie et/ou des infections urinaires."},"de":{"name":"Myopathie, familiäre viszerale","synonyms":["Megaduodenum und/oder Megazystis"],"definition":"Die Familiäre viszerale Myopathie ist eine seltene hereditäre myopathische Degeneration des Gastrointestinal- und Urogenitaltraktes. Sie wird als chronische intestinale Pseudoobstruktion manifest. Anatomische Veränderungen nach dem ersten Lebensjahrzehnt sind Megaduodenum und Megacystis. Klinische Symptome sind Auftreibung des Abdomens und/oder Schmerzen, Erbrechen, Obstipation, Diarrhoe, Dysphagie und/oder Harnwegsinfektionen."},"es":{"name":"Miopatía visceral familiar","synonyms":["Megaduodeno y/o megavesícula","Miopatía visceral hueca familiar","Miopatía visceral hueca hereditaria"],"definition":"La miopatía visceral familiar es una degeneración miopática hereditaria poco frecuente de los tractos gastrointestinales y urinarios que causa una pseudo-obstrucción intestinal crónica. Normalmente se presenta tras la primera década de vida con megaduodeno, megavejiga y síntomas como la distensión abdominal y/o dolor, vómitos, estreñimiento, diarrea, disfagia y/o infecciones del tracto urinario."},"it":{"name":"Miopatia viscerale familiare","synonyms":["Megaduodeno e/o megacisti","Miopatia ereditaria da viscere cave","Miopatia familiare da viscere cave"],"definition":"La miopatia viscerale familiare è una degenerazione miopatica ereditaria rara, che interessa sia il tratto gastrointestinale che le vie urinarie, causando una pseudo-ostruzione instestinale. Esordisce di solito dopo la prima decade di vita con megaduodeno, megacisti e distensione e/o dolore addominale, vomito, costipazione, diarrea, disfagia e/o infezioni delle vie urinarie."},"nl":{"name":"Familiale viscerale myopathie","synonyms":["Erfelijke holle viscerale myopathie","Familiale holle viscerale myopathie","Megaduodenum en/of megacystis"],"definition":"Familiale viscerale myopathie is een zeldzame erfelijke myopathische degeneratie van zowel het maagdarmkanaal als de urinewegen die chronische intestinale pseudo-obstructie veroorzaakt. Het presenteert zich gewoonlijk na het eerste decennium van het leven met megaduodenum, megacystis en symptomen zoals abdominale distensie en/of pijn, braken, constipatie, diarree, dysfagie, en/of urineweginfecties."},"pt":{"name":"Miopatia visceral familiar","synonyms":["Megaduodeno e/ou megabexiga"]},"pl":{"name":"Rodzinna miopatia trzewna","synonyms":["Dwunastnica olbrzymia i/lub pęcherz olbrzymi","Dziedziczna miopatia narządów trzewnych ze światłem","Rodzinna miopatia narządów trzewnych ze światłem"]},"cs":{"name":"Familiární viscerální myopatie","synonyms":["Megaduodenum a/nebo megacystitis"]},"uk":{"name":"Сімейна вісцеральна міопатія","synonyms":["Сімейна порожниста вісцеральна міопатія","Спадкова порожниста вісцеральна міопатія","Мегадуоденум та/або мегацистис"],"definition":"Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n."},"zh":{"name":"家族性内脏肌病","synonyms":["遗传性空腔脏器肌病"]},"tr":{"name":"Ailesel viseral miyopati","synonyms":["Megaduodenum ve/veya megakist","Ailesel içi boş viseral miyopati","Kalıtsal içi boş viseral miyopati"]}},"xrefs":[{"source":"OMIM","code":"155310","qualifier":"NTBT","icd_relation":null,"validated":false},{"source":"OMIM","code":"619350","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K56.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA90.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1838806574"},{"source":"MONDO","code":"0016829","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562574","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266833","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3443","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":"ACTG2","name":"actin gamma 2, smooth muscle","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22960657[PMID]","hgnc":"145","ensembl":"ENSG00000163017","omim":"102545","loci":["2p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000021","label":"Megacystis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010318","label":"Aplasia/Hypoplasia of the abdominal wall musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003363","label":"Abdominal situs inversus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000843","label":"Hyperparathyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null}]}}