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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the MYO5B gene cause microvillus inclusion disease. The MYO5B gene provides instructions for making a protein called myosin Vb. This protein helps to determine the position of various components within cells (cell polarity). Myosin Vb also plays a role in moving components from the cell membrane to the interior of the cell for recycling.</p><p>MYO5B gene mutations that cause microvillus inclusion disease result in a decrease or absence of myosin Vb function. In cells that line the small intestine (enterocytes), a lack of myosin Vb function changes the cell polarity. As a result, enterocytes cannot properly form structures called microvilli, which normally project like small fingers from the surface of the cells and absorb nutrients and fluids from food as it passes through the intestine. Inside affected enterocytes, small clumps of abnormal microvilli mix with misplaced digestive proteins to form microvillus inclusions, which contribute to the dysfunction of enterocytes. Disorganized enterocytes with poorly formed microvilli reduce the intestine&#x27;s ability to take in nutrients. The inability to absorb nutrients and fluids during digestion leads to recurrent diarrhea, malnutrition, and dehydration in individuals with microvillus inclusion disease.</p><p>Some people with the signs and symptoms of microvillus inclusion disease do not have mutations in the MYO5B gene. These cases may be variants of microvillus inclusion disease. Studies suggest that mutations in other genes can cause these cases, but the causes are usually unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/microvillus-inclusion-disease/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Microvillus inclusion disease?"},{"bodyHtml":"<p>Microvillus inclusion disease prevents the absorption of nutrients from food during digestion, resulting in malnutrition and dehydration. Affected infants often have difficulty gaining weight and growing at the expected rate (failure to thrive), developmental delay, liver and kidney problems, and thinning of the bones (osteoporosis). Some affected individuals develop cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis).</p><p>In individuals with microvillus inclusion disease, lifelong nutritional support is needed and given through intravenous feedings (parenteral nutrition).</p><p>A variant of microvillus inclusion disease with milder diarrhea often does not require full-time parenteral nutrition. Individuals with the variant type frequently live past childhood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/microvillus-inclusion-disease\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"microvillus-inclusion-disease","sourceDocuments":[{"name":"Microvillus inclusion disease","reviewed":"2014-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:20.131313+00:00","label":"Causes","pageSha256":"1b2067cc0e856a99f6c8449fa230393e17afa7089fd6f2503d9de1b33e5dbfa2","sourceUrl":"https://medlineplus.gov/genetics/condition/microvillus-inclusion-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/microvillus-inclusion-disease"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Microvillus inclusion disease"},"schemaVersion":1}