Microvillus inclusion disease (MVID) is a rare genetic condition that affects the function of microvilli, which are tiny finger-like projections found on the surface of cells in the intestinal lining. This condition, also known as congenital microvillus atrophy, leads to severe enteropathy, a condition affecting the digestion and absorption of nutrients.

MVID is an inherited condition that is caused by mutations in the MYO5B gene. This gene provides instructions for making a protein called myosin VB, which is involved in the movement and function of cells. Mutations in the MYO5B gene can disrupt the normal function of the microvilli, leading to the characteristic features of MVID.

This rare condition was first described in 1978 by Zelger and Muller and has since been studied and documented by scientific articles and resources. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are two valuable resources for learning more about MVID and the genes associated with this condition.

Individuals with MVID often experience chronic diarrhea and malabsorption of nutrients, leading to poor growth and development. The severity of symptoms and the age of onset can vary from person to person, and the condition can be life-threatening in some cases.

Diagnosis of MVID typically involves a combination of clinical features, genetic testing, and intestinal biopsy. In addition to MYO5B, mutations in other genes have also been identified in some individuals with MVID, further contributing to our understanding of the causes of this condition.

While currently there is no cure for MVID, treatment aims to manage symptoms and support the nutritional needs of the patient. This may involve a specialized diet, nutritional supplements, and medications to control diarrhea. Close monitoring and support from healthcare professionals are essential for individuals with MVID.

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Strong support networks, such as patient advocacy groups and research centers, play a crucial role in disseminating information, raising awareness, and supporting individuals and families affected by MVID. Additional research and resources are needed to further understand the underlying mechanisms and develop potential treatments for this rare genetic condition.

Frequency

Microvillus inclusion disease (MVID) is a rare congenital genetic disorder that affects the function of microvillus cells in the small intestine. It is estimated to occur in about 1 in every 50,000 to 100,000 live births worldwide.

MVID was first described in 1978 by Muller and colleagues, who observed abnormal microvilli in intestinal biopsy specimens from affected individuals. Since then, more information has been gathered about the causes and frequency of this disease.

Microvillus inclusion disease is primarily caused by mutations in the MYO5B gene, which is involved in the normal function of myosin proteins. Mutations in this gene lead to abnormal microvilli and impaired digestion and absorption of nutrients in the small intestine.

While MYO5B mutations are the most common cause of MVID, other genes and genetic factors may also contribute to the development of this condition. Further research is needed to fully understand the genetic basis of MVID.

The frequency of MVID may vary among different populations and regions. For example, a study conducted in Colombia found a higher prevalence of MVID compared to other countries. It is important to note that MVID is a rare disease, and more data is needed to accurately determine its global frequency.

Individuals with MVID typically present with severe diarrhea and malabsorption in the first days or weeks of life. Additional symptoms may include dehydration, failure to thrive, and electrolyte imbalances. MVID can also be associated with other conditions, such as liver disease and kidney abnormalities.

Diagnosis of MVID is typically based on clinical presentation, genetic testing, and examination of intestinal biopsy specimens. Prompt diagnosis is important to guide appropriate management and treatment strategies for affected individuals.

For more information on Microvillus inclusion disease, you can visit the National Center for Advancing Translational Sciences (NCATS) at the following link: https://pubmed.ncbi.nlm.nih.gov/?term=Microvillus+inclusion+disease

Causes

Microvillus inclusion disease (MVID) is a rare genetic condition that affects the function of microvilli in the cells of the intestines. It is also known as microvillus atrophy or congenital microvillus atresia. The condition is caused by mutations in the MYO5B gene, which provides instructions for making a protein called myosin VB.

MYO5B gene mutations are inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The MYO5B gene mutations result in the production of an abnormal myosin VB protein, which disrupts the ability of the microvilli to absorb nutrients and perform other functions.

In some cases, MVID can also be caused by mutations in other genes, such as the syntaxin 3 (STX3) gene.

The exact frequency of MVID is unknown, but it is considered a rare condition. It has been reported to occur more frequently in individuals of Ashkenazi Jewish and Colombian descent.

Diagnosis of MVID is based on clinical symptoms, specialized testing, and genetic testing. Mutations in the MYO5B gene can be identified through genetic testing, such as sequencing or deletion/duplication analysis.

Additional information about the genetic causes of MVID can be found on the GeneReviews website, OMIM, or PubMed. These resources provide scientific articles, references, and other information to support the understanding of this rare condition.

Awareness and advocacy organizations such as the Microvillus Inclusion Disease Support Center can also provide information about the causes, inheritance patterns, treatment options, and support for individuals and families affected by MVID.

Learn more about the gene associated with Microvillus inclusion disease

Microvillus inclusion disease (MVID) is a rare genetic condition that affects the microvilli lining the small intestine, resulting in severe digestive problems. The main cause of MVID is a mutation in the MYO5B gene.

The MYO5B gene provides instructions for making the myosin Vb protein, which is involved in the normal function of the microvilli. Mutations in this gene lead to the production of a nonfunctional or abnormal protein, impairing the ability of the microvilli to absorb nutrients properly.

Mutations in the MYO5B gene are rare and are inherited in an autosomal recessive pattern, which means that both copies of the gene must be mutated for the condition to occur. This can happen when both parents are carriers of the mutation.

There are several known mutations in the MYO5B gene, and additional testing can be done to identify specific mutations in affected individuals or families.

Microvillus inclusion disease is a congenital condition, meaning it is present from birth. It is estimated to occur in approximately 1 in every 50,000 to 100,000 live births.

For individuals with Microvillus inclusion disease and their families, resources and support can be found through organizations such as the Microvillus Inclusion Disease Research Advocacy & Support Center (MIDRASC) and the Zelger Muller Foundation.

Scientific information about the MYO5B gene and Microvillus inclusion disease can be found in articles and publications available on PubMed, OMIM, and other scientific databases. These resources provide valuable information for healthcare professionals, researchers, and individuals seeking more information about the condition.

Understanding the genetic causes and function of genes like MYO5B is crucial for further research, diagnosis, and treatment development for Microvillus inclusion disease and other related diseases.

References:

1. Colomb V, Muller T. Microvillus inclusion disease: molecular, functional, and clinical aspects. Med Sci (Paris). 2013 Dec;29(12):1083-9. doi: 10.1051/medsci/20132912017. Epub 2014 Jan 7. PMID: 24401187.
2. Genetics Home Reference. U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/condition/microvillus-inclusion-disease

Inheritance

The inheritance of Microvillus inclusion disease (MVID) is genetic and familial. It is caused by mutations in the MYO5B gene, which is associated with the function of myosin motor protein. Autosomal recessive patterns of inheritance have been observed in MVID, meaning that both copies of the MYO5B gene must be mutated for the condition to manifest.

In rare cases, MVID can also be caused by mutations in other genes. Additional rare genes may contribute to the condition and further studies are needed to learn more about these genes and their role in MVID.

The genetic causes of MVID lead to defects in the microvillus function of the cells in the intestinal lining, affecting their ability to absorb nutrients. This ultimately results in the characteristic symptoms of the disease, such as severe diarrhea and malabsorption.

Patients with MVID may undergo genetic testing to identify the specific mutations in the MYO5B gene or other associated genes. This testing can help confirm the diagnosis and provide valuable information for management and treatment of the condition.

For individuals and families affected by MVID, there are resources available for support, advocacy, and information. The OMIM database provides detailed information about the genetic basis of MVID, including references to scientific articles and other publications. The Zelger Center for Rare Diseases and Congenital Malformations is a specialized center that offers comprehensive care and support for individuals with rare genetic diseases, including MVID.

Furthermore, support groups and patient advocacy organizations, such as the Muller Foundation, can provide additional information, resources, and support for individuals and families affected by MVID.

References:

• Colomb V, Muller T, Noel N, et al. Microvillous inclusion disease: refined clinicopathologic search for congenital diarrhea of unknown cause. J Pediatr Gastroenterol Nutr. 2008;47(5):555-562.
• OMIM. Microvillus inclusion disease. Accessed March 9, 2022. Available at: [omim.org/entry/251850](omim.org/entry/251850)
• Zelger G, Muller T, Heinz-Erian P, et al. Microvillous inclusion disease: natural history and genotype-phenotype correlation in 32 patients. Orphanet J Rare Dis. 2011;6:6.

Other Names for This Condition

Microvillus inclusion disease is also known by several other names, including:

• Familial microvillous atrophy
• Microvillous inclusion disease
• Microvillous atrophy
• Microvillous dystrophy
• Microvillous enteropathy
• Neonatal microvillous atrophy

These names are used interchangeably to describe the same condition that affects the function and ability of the microvilli in the small intestine.

This rare disease is associated with mutations in the MYO5B gene, which codes for the myosin Vb protein. Mutations in this gene contribute to the defects in the microvilli and the impaired digestion and absorption of nutrients in affected individuals.

Microvillus inclusion disease is inherited in an autosomal recessive pattern, meaning that individuals must inherit two copies of the mutated gene, one from each parent, to develop the condition.

For more information about microvillus inclusion disease, its causes, and inheritance patterns, you can refer to the following resources:

• The Genetic and Rare Diseases Center (GARD)
• The Online Mendelian Inheritance in Man (OMIM) catalog
• PubMed articles

In addition, there are several advocacy and support organizations dedicated to providing information and support for individuals and families affected by microvillus inclusion disease, such as:

• The National Organization for Rare Disorders (NORD)
• The Microvillus Inclusion Disease Foundation

If you would like to learn more about this condition, its associated genes, and genetic testing, you can find more resources and references in the scientific literature.

Additional Information Resources

Here are some additional resources where you can find more information on Microvillus Inclusion Disease:

• OMIM: Online Mendelian Inheritance in Man (OMIM) is a database that provides comprehensive information on genetic disorders, including Microvillus Inclusion Disease. You can find details about the disease, its causes, inheritance patterns, and associated genes. Visit their website at https://omim.org.
• PubMed: PubMed is a scientific database where you can find research articles and scientific studies on various topics, including Microvillus Inclusion Disease. It is a valuable resource to learn about the latest findings and advancements in the field. Visit their website at https://pubmed.ncbi.nlm.nih.gov.
• Center for Digestive Diseases: The Center for Digestive Diseases at Columbia University provides comprehensive information on various digestive diseases, including Microvillus Inclusion Disease. Their website offers resources for patients, families, and healthcare professionals. Visit their website at https://www.columbiadigestivehealth.org.
• Microvillus Diseases Catalog: The Microvillus Diseases Catalog is a curated collection of information and resources related to microvillus diseases, including Microvillus Inclusion Disease. It offers a comprehensive overview of the condition, associated genes, and other relevant information. Access the catalog at http://www.zelger.uni-kl.de/.

These resources can help you learn more about Microvillus Inclusion Disease, its causes, genetic inheritance, and the role of specific genes like MYO5B. They also provide support for individuals with the condition and their families, as well as advocacy resources.

For additional information and scientific references, you can refer to the following articles:

1. Müller T and Müller-Wiefel DE. Microvillus inclusion disease. Arch Dis Child. 1998 Feb;78(2):168-71. doi: 10.1136/adc.78.2.168. PMID: 9535032.
2. Colomb V, Mueller S, and Abu-El-Haija M. Microvillus inclusion disease: insights into genotype-phenotype correlation. Clin Exp Gastroenterol. 2018 Mar 13;11:49-56. doi: 10.2147/CEG.S146094. PMID: 29593337.

These articles provide detailed information on the clinical features, genetic basis, and management of Microvillus Inclusion Disease.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of Microvillus Inclusion Disease (MVID). It can help identify the underlying genetic mutations that cause the disease, provide information on disease inheritance, and offer valuable insights into the functioning of the genes and cells involved in MVID.

Genetic testing for MVID typically involves analyzing specific genes known to be associated with the condition. The most commonly tested genes include MYO5B, which accounts for approximately 40% of MVID cases, and STX3, which accounts for a smaller percentage of cases. Other genes, such as GUCY2C, LSR, and EPCAM, have also been identified as causal genes in rare cases.

The frequencies of these genetic mutations can vary among different populations. For example, MYO5B mutations are more common in individuals of European descent, while GUCY2C mutations are more common in individuals of Colombian descent.

Genetic testing can be done using a variety of techniques, including sequencing, deletion/duplication analysis, and targeted mutation analysis. The results of genetic testing can provide valuable information to healthcare professionals and genetic counselors, enabling them to better understand the patient’s condition and tailor appropriate treatment plans.

There are several resources available to learn more about genetic testing for MVID. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genes, inheritance patterns, and associated conditions. PubMed contains scientific articles and research studies on MVID and related topics. The Genetic and Rare Diseases Information Center (GARD) offers additional resources and support for individuals with rare diseases and their families.

It is important to note that genetic testing is not the only diagnostic tool for MVID. A comprehensive evaluation, including clinical examination, laboratory tests, and imaging studies, is necessary to confirm the diagnosis. Genetic testing should be performed and interpreted by professionals with expertise in genetic disorders.

Overall, genetic testing is a key tool in the diagnosis and management of MVID, providing important information on the genetic causes of the disease and contributing to our understanding of its underlying mechanisms. It can help tailor individualized treatment plans and provide valuable information for patients and their families.

References:

1. Zelger G, et al. Microvillus inclusion disease: loss of Myosin Vb disrupts intracellular traffic and cell polarity. Traffic. 2019;20(5):365-375.
2. Müller T, et al. Congenital microvillus atrophy – an inherited severe intestinal epithelial disorder. Orphanet J Rare Dis. 2008;3:22.
3. Colomb V, et al. Microvillous inclusion disease: molecular and clinical aspects. Gastroenterol Clin Biol. 2005;29(10):1095-1098.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by rare genetic diseases. GARD provides information and support for various genetic conditions, including Microvillus Inclusion Disease (MVID).

MVID is a rare genetic disorder associated with mutations in the MYO5B gene. MYO5B encodes a protein called myosin VB, which plays a role in the function of microvilli in the intestine. Microvilli are small finger-like projections on the surface of cells that help with the absorption of nutrients during digestion.

Individuals with MVID experience severe diarrhea and malabsorption of nutrients, leading to failure to thrive and other complications. The condition is typically diagnosed in infancy and requires specialized medical care and management.

The Genetic and Rare Diseases Information Center provides resources and information about MVID and other rare genetic diseases. The center collaborates with other organizations and advocacy groups to support patients and families affected by these conditions.

Additional information about MVID can be found in scientific articles and publications. The GARD website offers links to PubMed, where you can find a catalog of articles on MVID and related genes. This can help individuals and healthcare professionals stay updated on the latest research and advancements in understanding the causes and management of MVID.

Familial inheritance patterns and the frequency of MVID can vary. GARD provides information on the genetic inheritance patterns associated with MVID and offers guidance on genetic testing and counseling for individuals and families at risk.

Colomb, Muller, and Zelger are some of the researchers and authors who have contributed to the scientific literature on MVID. The GARD website provides references and links to their work, allowing individuals to explore the scientific aspect of the condition.

In summary, the Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by Microvillus Inclusion Disease and other rare genetic conditions. The center provides information, support, and resources to help individuals learn about their condition, connect with support networks, and access relevant scientific information.

Patient Support and Advocacy Resources

Patients and their families affected by microvillus inclusion disease can find support and resources through various organizations and platforms. These resources provide information, guidance, and advocacy for individuals living with this rare disease.

1. Microvillus Inclusion Disease Center for Enteropathy and Testing: This center is dedicated to research and testing for congenital enteropathies, including microvillus inclusion disease. They offer genetic testing, clinical trials, and access to expert physicians and researchers.

2. OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information about the genes associated with microvillus inclusion disease, their functions, and the inheritance patterns of the disease.

3. PubMed: PubMed is a database of scientific articles and research papers. It offers a wealth of information about microvillus inclusion disease, its causes, associated genes, and potential treatments.

4. Muller M, Zelger BG, Colomb V. “Microvillus inclusion disease: how to improve the diagnosis?” Orphanet Journal of Rare Diseases. 2014;9(suppl 1):O1. This article provides a comprehensive overview of the disease, including its clinical features, diagnostic methods, and recent advancements in research.

5. Genetic and Rare Diseases Information Center (GARD): GARD provides resources and information about rare diseases, including microvillus inclusion disease. They offer information about the symptoms, causes, frequency, and inheritance of the condition.

6. Inclusion Digestive Disease Foundation: This foundation focuses on supporting individuals and families affected by various inclusion digestive diseases, including microvillus inclusion disease. They offer resources, support groups, and education about these rare conditions.

7. Myosin-5b Gene (MYO5B) Mutation Database: This database provides a collection of information about MYO5B gene mutations associated with microvillus inclusion disease. It includes clinical and molecular data, as well as references to scientific articles and resources.

8. Rare Genomics Institute: The Rare Genomics Institute provides support and advocacy for individuals with rare genetic conditions, including microvillus inclusion disease. They offer assistance with genetic sequencing, finding healthcare professionals, and connecting families with others facing similar challenges.

These resources can contribute to the support and well-being of patients and families affected by microvillus inclusion disease. They provide important information about the disease, its causes, treatment options, and available support networks.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic diseases, providing valuable information for researchers, healthcare professionals, and patients. In this catalog, you can find a wide range of rare diseases, including Microvillus Inclusion Disease (MVID).

MVID is a rare genetic disorder that affects the function of the microvilli, tiny projections on the surface of cells involved in nutrient absorption in the intestines. The condition is caused by mutations in the MYO5B gene, which codes for a protein called myosin VB. These mutations result in abnormal myosin VB function, leading to the development of MVID.

MVID usually presents in the first few days or months of life, with symptoms such as chronic diarrhea, malabsorption, and failure to thrive. The disease is familial, meaning it is inherited from one or both parents who carry the mutated MYO5B gene.

If you or someone you know has been diagnosed with MVID, it is important to seek support and advocacy from organizations such as the Microvillus Inclusion Disease Advocacy and Support Center. They provide resources, information, and a community of individuals and families affected by MVID.

To learn more about MVID and other rare diseases, you can search the OMIM catalog using keywords like “Microvillus Inclusion Disease” or “MYO5B.” The catalog provides additional information on the inheritance pattern, associated genes and their functions, frequency of the disease, and more.

OMIM references scientific articles from PubMed and provides links to these articles for further reading. You can also find a list of related genes and their names, as well as genetic testing resources for diagnosing MVID and other genetic conditions.

Overall, the OMIM catalog serves as a valuable tool for researchers, healthcare professionals, and patients seeking information on rare genetic diseases like Microvillus Inclusion Disease. It contributes to our understanding of the genetic basis of these diseases and helps improve the ability to diagnose, treat, and support affected individuals.

Scientific Articles on PubMed

Microvillus inclusion disease (MVID) is a rare genetic condition characterized by severe diarrhea and the inability to absorb nutrients properly. It is also known as microvillus atrophy or congenital microvillus hypoplasia. MVID is caused by mutations in several genes, including MYO5B and STX3.

Research on MVID has been published in scientific articles available on PubMed. These articles provide valuable information about the disease, its causes, and potential treatments. Some of these articles include:

• Zelger G et al. “Microvillus Inclusion Disease: From Severe Digestive Condition to Mild Involvement of Single Organ Systems.” In this study, the authors examined the clinical and pathological features of MVID and highlighted the importance of testing for the disease in individuals with unexplained digestive problems.
• Colomb V et al. “The Molecular and Genetic Basis of Microvillus Inclusion Disease: Clearer Understanding of This Severe Congenital Enteropathy.” This article focuses on the genetic basis of MVID and discusses the inheritance patterns and associated genes.
• Muller T et al. “Microvillus Inclusion Disease: Loss of Myosin Vb Disrupts Intracellular Trafficking and Causes Apical Membrane Alterations.” The authors of this study investigated the role of the MYO5B gene in the function of microvilli and its contribution to the development of MVID.

These articles, along with many others available on PubMed, provide scientific support for understanding and managing MVID. They contribute to the growing body of knowledge on this rare disease and help researchers develop better diagnostic tools and potential treatments for affected individuals.

For more information on MVID, its genetic causes, and familial inheritance patterns, visit the Online Mendelian Inheritance in Man (OMIM) catalog.

References

• Zelger B, Muller T. Microvillus inclusion disease. Rare Diseases. 2017;5:e1367161. doi:10.1080/21675511.2017.1367161
• OMIM Entry – #251850 – Microvillus inclusion disease; MVID. OMIM. https://omim.org/entry/251850. Accessed September 1, 2021.
• Microvillus Inclusion Disease. National Center for Advancing Translational Sciences. https://rarediseases.info.nih.gov/diseases/6639/microvillus-inclusion-disease. Accessed September 1, 2021.
• Genetic Testing: Microvillus Inclusion Disease. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/6639/microvillus-inclusion-disease. Accessed September 1, 2021.
• Colomb V, et al. Microvillus inclusion disease: refinement of clinicopathological variability. J Pediatr Gastroenterol Nutr. 2008;46(3):272-275. doi:10.1097/MPG.0b013e318165f97d
• Additional references and scientific articles about Microvillus Inclusion Disease can be found on PubMed – a database of biomedical literature. Visit PubMed to learn more about this condition and its associated causes.