{"orpha":2290,"name":"Microvillus inclusion disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital microvillous atrophy","Congenital microvillus atrophy","MVID","Microvillous inclusion disease"],"definition":"Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2290/","orphanet_url":"https://www.orpha.net/en/disease/detail/2290","names":{"fr":{"name":"Maladie des inclusions microvillositaires","synonyms":["Atrophie microvillositaire congénitale","Diarrhée chronique congénitale avec anomalies familiales des microvillosités entérocytaires","MVID"],"definition":"Une maladie intestinale sévère très rare caractérisée par une diarrhée sécrétoire intraitable néonatale, persistant lors du repos intestinal et associée à des signes histologiques spécifiques de l'épithélium intestinal."},"de":{"name":"Mikrovillöse Einschluss-Krankheit","synonyms":["MVID","Mikrovillus-Atrophie, kongenitale","Mikrovillus-Einschlusserkrankung","Mikrovilluseinschlusskörperchenerkrankung"],"definition":"Die Mikrovillöse Einschluss-Krankheit (MVID) oder Mikrovillus-Atrophie ist eine sehr seltene und schwerwiegende Darmerkrankung, die durch eine intraktable sekretorische Diarrhoe bei Neugeborenen gekennzeichnet ist, die auch nach Ruhigstellung des Darms weiter anhält und spezifische histologische Merkmale des Darmepithels aufweist."},"es":{"name":"Enfermedad de inclusión microvellosa","synonyms":["Atrofia de microvellosidades congénita","Atrofia microvellosa congénita","Enfermedad de inclusión de microvellosidades","MVID"],"definition":"La enfermedad de inclusión microvellosa (MVID) es una enfermedad intestinal grave y muy poco frecuente caracterizada por diarrea secretora neonatal intratable que persiste con reposo intestinal y con características histológicas específicas del epitelio intestinal."},"it":{"name":"Malattia da inclusioni microvillari","synonyms":["Atrofia microvillare congenita","MVID"],"definition":"La malattia da inclusioni microvillari (MVID) è una patologia intestinale molto rara e grave, caratterizzata da diarrea secretoria neonatale non trattabile, che persiste anche quando l'intestino è a riposo; l'epitelio intestinale presenta segni istologici caratteristici."},"nl":{"name":"Microvillusinclusieziekte","synonyms":["Congenitale microvilleuze atrofie","Congenitale microvillusatrofie","MVID","Microvilleuze inclusieziekte"],"definition":"Microvillusinclusieziekte (MVID) is een zeer zeldzame en ernstige darmziekte die gekarakteriseerd wordt door onbehandelbare neonatale secretoire diarree die aanhoudt bij darmrust en specifieke histologische kenmerken van het intestinaal epitheel."},"pt":{"name":"Doença de inclusões nas microvilosidades","synonyms":["Atrofia congénita das microvilosidades"]},"pl":{"name":"Choroba wtrętowa mikrokosmków","synonyms":["MVID","Wrodzona atrofia mikrokosmków"]},"cs":{"name":"Nemoc inkluze mikrovilů","synonyms":["Vrozená mikrovilózní atrofie","MVID","Nemoc mikrovilózní inkluze","Vrozená atrofie mikrovilů"]},"uk":{"name":"Хвороба включення мікроворсинок","synonyms":["Вроджена мікроворсинчаста атрофія","Вроджена атрофія мікроворсинок","Хвороба мікроворсинчастого включення","MVID"],"definition":"Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium."},"zh":{"name":"微绒毛包涵体病","synonyms":["微绒毛包涵体病"]},"tr":{"name":"Mikrovillus inklüzyon hastalığı","synonyms":["MVID","Doğumsal mikrovillus atrofisi","Mikrovillous inklüzyon hastalığı","Doğumsal mikrovillöz atrofi"]}},"xrefs":[{"source":"OMIM","code":"251850","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619445","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619446","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"P78.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2137578537"},{"source":"MONDO","code":"0009635","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537470","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0341306","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7039","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068494","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":104007,"name":"Congenital enteropathy involving intestinal mucosa development","classifications":[152,156,233]},{"orpha":363300,"name":"Genetic intractable diarrhea of infancy","classifications":[156]},{"orpha":73014,"name":"Intractable diarrhea of infancy","classifications":[152,233]}],"children":[],"genes":[{"symbol":"MYO5B","name":"myosin VB","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20186687[PMID]","hgnc":"7603","ensembl":"ENSG00000167306","omim":"606540","loci":["18q21.1"]},{"symbol":"STX3","name":"syntaxin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24726755[PMID]","hgnc":"11438","ensembl":"ENSG00000166900","omim":"600876","loci":["11q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"16800870[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":137.0,"area":"Worldwide","status":"Validated","source":"24014347[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24014347[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-20","source":null,"terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012211","label":"Abnormal renal physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011472","label":"Abnormality of small intestinal villus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011106","label":"Hypovolemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011473","label":"Villous atrophy","frequency":"Frequent (79-30%)","criteria":null}]}}