Microvillus inclusion disease (MVID) is a rare condition that is present from birth and affects the digestive system. People with MVID experience severe diarrhea that is difficult to control, cannot absorb dietary nutrients, and struggle to grow and thrive. In addition, diverse clinical manifestations, some of which are life-threatening, have been reported in cases of MVID. MVID can be caused by variants in the , , or gene. These genes produce proteins that have been functionally linked to each other in intestinal epithelial cells. MVID associated with variants presents in a subset of patients diagnosed with familial hemophagocytic lymphohistiocytosis type 5. MVID associated with variants presents in most patients diagnosed with osteo-oto-hepato-enteric syndrome. Furthermore, variants in or can also cause other diseases that are characterized by phenotypes that can co-occur in subsets of patients diagnosed with MVID. Recent studies involving clinical data and experiments with cells and animals revealed connections between specific phenotypes occurring outside of the digestive system and the type of gene variants that cause MVID. Here, we have reviewed these patterns and correlations, which are expected to be valuable for healthcare professionals in managing the disease and providing personalized care for patients and their families.

中文翻译：

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揭示微绒毛包涵体病肠道外基因与表型之间的关系

微绒毛包涵体病 (MVID) 是一种罕见疾病，从出生起就存在并影响消化系统。患有 MVID 的人会出现难以控制的严重腹泻，无法吸收膳食营养，并且难以生长和发育。此外，MVID 病例还报告了多种临床表现，其中一些是危及生命的。 MVID 可由 、 、 或 基因的变异引起。这些基因产生的蛋白质在肠上皮细胞中彼此功能相连。与变异相关的 MVID 存在于诊断为 5 型家族性噬血细胞性淋巴组织细胞增多症的患者亚组中。与变异相关的 MVID 存在于大多数诊断为骨耳肝肠综合征的患者中。此外，变异也可能导致其他疾病，这些疾病的表型可以在诊断为 MVID 的患者亚群中同时发生。最近涉及临床数据以及细胞和动物实验的研究揭示了消化系统外部发生的特定表型与导致 MVID 的基因变异类型之间的联系。在这里，我们回顾了这些模式和相关性，预计它们对于医疗保健专业人员管理疾病和为患者及其家人提供个性化护理非常有价值。