Our data indicate that MYO5B mutations are a major cause of microvillus inclusion disease and that MYO5B knock-down recapitulates most of the cellular phenotype in vitro, thus independently showing loss of MYO5B function as the cause of microvillus inclusion disease. Herschel Dhekne: Pathogenic Mechanisms in Microvillus Inclusion Disease – focus on apical brush border. Davidson disease; Microvillus atrophy, congenital; Congenital familial protracted diarrhea with enterocyte brush-border abnormalities; Davidson disease; Microvillus atrophy, congenital; Congenital familial protracted diarrhea with enterocyte brush-border abnormalities; Intractable diarrhea of infancy; Congenital familial protracted diarrhea; Congenital microvillous atrophy; Davidson's disease; Familial enteropathy, microvillus, placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos, Human Phenotype Ontology Ultrasound Obstet Gynecol. This condition is characterized by chronic, life-threatening diarrhea beginning in infancy. Till date, only a handful of cases with MVID have been described in English literature. cause of death is the sepsis. (HPO). In addition to these tests, doctors will perform genetic testing to see whether there are any differences in the genes known to cause MVID and other congenital diarrheas. Microvillus inclusion disease is an intestinal disorder characterized by severe, watery diarrhea and an inability of the intestines to absorb nutrients. Therefore, the affected child must be carefully monitored by a physician. MVID follows an autosomal recessive pattern of inheritance. “Our team worked very hard toward getting an orphan drug status for Shylicine™. Treatment of MVID is accomplished through intravenous feeding called total parenteral nutrition (TPN). Yamada T, Alpers DH, Owyang C, et al., eds. J Pediatr Gastroenterol Nutr. You can find more tips in our guide, How to Find a Disease Specialist. In: NORD Guide to Rare Disorders. Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. https://www.omim.org/entry/251850 Accessed July 9, 2019. Please note that NORD provides this information for the benefit of the rare disease community. Microvillus inclusion disease (MVID) is a rare congenital severe malabsorptive and secretory diarrheal disease characterized by blunted or absent microvilli with accumulation of secretory granules and inclusion bodies in enterocytes. TEXTBOOKS Kennea NL. NORD gratefully acknowledges Nadia Ameen, MD, Professor Pediatrics, Cellular and Molecular Physiology, Yale University School Medicine, for assistance in the preparation of this report. Online Mendelian Inheritance In Man (OMIM). All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site. 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