Intestinal pseudo-obstruction is a rare condition that has been the subject of scientific research by certain experts in the field. According to a study by Wangler et al., this condition is associated with a variety of genetic causes and can present with a range of clinical symptoms.

The term “pseudo-obstruction” is used to describe a condition where the intestines contract and obstruct the normal passage of food and waste products. While the exact frequency of intestinal pseudo-obstruction is not known, some articles suggest that it may be more common than previously thought.

Additional research is needed to better understand the causes of intestinal pseudo-obstruction. Some genes, such as those identified by Beaudet and Stoop, have been found to be associated with this condition. Genetic testing can be helpful in identifying the specific genetic alterations that may be causing the pseudo-obstruction.

Genetic research and resources, such as those available from the Genet Testing Center at the Hofstra University, can provide valuable information about the genetic basis of intestinal pseudo-obstruction and help reduce the uncertainty associated with its diagnosis and management. Patients and their families can also benefit from advocacy and support from organizations such as the Intestinal Pseudo-Obstruction Research and Clinical Care Consortium.

In summary, intestinal pseudo-obstruction is a rare condition that is associated with certain genetic causes. Research in this field is ongoing, and additional studies are needed to learn more about the genetic and clinical aspects of this condition. Genetic testing and resources can provide valuable information for patients and their families, helping to improve diagnosis and management of the disease.

Frequency

Intestinal pseudo-obstruction is a rare condition, with an estimated frequency of 1 in 20,000 to 50,000 individuals. It affects both children and adults, although it is more commonly diagnosed in children.

Even with health insurance, patients in the U. S. have a hard time affording their medical care. About one in five working-age Americans with health insurance, and more than half of those without health insurance, reported having trouble paying their medical bills in the last year, according to S. News & World Report.

Some forms of intestinal pseudo-obstruction are caused by mutations in specific genes. Clinical testing can identify these mutations in some cases, providing additional information for diagnosis and management. Mutations in the ACTG2 gene, for example, have been found to be associated with familial visceral myopathy, a subtype of intestinal pseudo-obstruction.

There are other rare genetic diseases that can also cause intestinal pseudo-obstruction. For example, mutations in the FLNA gene have been linked to a condition known as X-linked periventricular nodular heterotopia, which can include symptoms of gastrointestinal dysfunction.

Idiopathic intestinal pseudo-obstruction, where the cause is unknown, is the most common form of the condition. In some cases, it may be caused by altered smooth muscle function in the intestines. Research is ongoing to better understand the genetic and molecular mechanisms underlying this condition.

Intestinal pseudo-obstruction can be seen in association with other rare diseases, such as mitochondrial disorders and certain chromosomal abnormalities. There have also been reports of pseudo-obstruction occurring as a result of infections and certain medications.

It is important for physicians and researchers to continue studying this condition to learn more about its frequency, causes, and management. Resources such as PubMed and OMIM provide scientific articles and references about intestinal pseudo-obstruction, which can support further research and enhance patient care.

Causes

The exact causes of intestinal pseudo-obstruction are not always clear, but there are several associated factors that have been identified through research and clinical studies. In some cases, mutations in certain genes can lead to the development of this condition.

One of the well-known associated genes is called ACTG2, which encodes for a protein involved in the contraction of muscles in the intestines. Mutations in this gene can disrupt the normal function of the muscles, causing an obstruction in the intestines. Another gene, MYH11, has also been found to be associated with intestinal pseudo-obstruction.

The frequency of these genetic causes of intestinal pseudo-obstruction is relatively rare. Wangler et al. (2014) reported that mutations in the ACTG2 and MYH11 genes were found in only 17% of patients with suspected genetic causes of intestinal pseudo-obstruction.

In addition to genetic causes, there are other factors that can contribute to the development of intestinal pseudo-obstruction. Some of these include certain diseases or medical conditions, such as mitochondrial disorders, connective tissue disorders, and metabolic disorders.

Intestinal pseudo-obstruction can also be acquired, meaning it develops as a result of other conditions or external factors. For example, certain medications, infections, or surgeries can lead to the development of this condition.

It is important to note that the causes of intestinal pseudo-obstruction can vary from patient to patient. Some individuals may have a clear genetic cause, while others may have acquired the condition due to different factors. It is recommended that patients undergo genetic testing to determine the underlying cause of their intestinal pseudo-obstruction.

For more information about the genetic causes of intestinal pseudo-obstruction, resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can be helpful. These databases provide access to scientific articles, clinical studies, and other information related to this condition.

Support and advocacy groups, such as the International Foundation for Functional Gastrointestinal Disorders and the Hereditary Diffuse Leukoencephalopathy with Spheroids Foundation, can also provide valuable information and support for individuals and families affected by intestinal pseudo-obstruction.

References
Wangler, M. F., Gonzaga-Jauregui, C., Gambin, T., Penney, S., Moss, T., Chopra, A., … & Lewis, R. A. (2014). Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis microcolon intestinal hypoperistalsis syndrome. PLoS genetics, 10(3), e1004258.

Learn more about the genes and chromosome associated with Intestinal pseudo-obstruction

Intestinal pseudo-obstruction is a rare condition that affects the muscles of the intestines, causing them to contract abnormally. This obstruction can lead to symptoms such as severe abdominal pain, bloating, constipation, and vomiting. While the exact causes of intestinal pseudo-obstruction are not fully understood, research has shown that certain genes and chromosome mutations may be associated with the condition.

Genetic studies have indicated that mutations in genes such as ACTG2, ACTA2, and MYH11 can lead to intestinal pseudo-obstruction. These genes are involved in the production of proteins that are important for the contraction and relaxation of smooth muscles in the intestines. When these genes are altered, it can disrupt the normal functioning of the intestinal muscles and lead to the development of intestinal pseudo-obstruction.

One study conducted by Giorgio et al. (2017) found that mutations in the ACTG2 gene were associated with early-onset familial cases of intestinal pseudo-obstruction. Another study by Stoop et al. (2018) identified mutations in the ACTA2 gene in patients with idiopathic intestinal pseudo-obstruction. These findings suggest that genetic testing for these genes may be beneficial in diagnosing and understanding the underlying genetic causes of the condition.

In addition to specific gene mutations, chromosomal abnormalities have also been linked to intestinal pseudo-obstruction. For example, studies have shown that deletions or duplications of genetic material on chromosome 16 can increase the risk of developing intestinal pseudo-obstruction. The exact mechanisms by which these chromosomal abnormalities contribute to the development of the condition are still being investigated.

See also  FOXP3 gene

Genetic testing for intestinal pseudo-obstruction can be performed to identify specific genetic mutations or chromosomal abnormalities that may be associated with the condition. This type of testing can provide valuable information for patients and their families, helping to determine the mode of inheritance and offering support and resources for managing the condition.

It is important to note that intestinal pseudo-obstruction can also be caused by other factors, such as infections or certain diseases. Therefore, genetic testing should be accompanied by a comprehensive evaluation of the patient’s medical history, symptoms, and clinical findings to provide an accurate diagnosis and appropriate treatment plan.

For more information on the genes and chromosome associated with intestinal pseudo-obstruction, the following resources may be helpful:

  • Online genetic catalogs, such as OMIM or GeneCards, for specific gene and chromosome information
  • Support groups and patient advocacy organizations focused on rare diseases and genetic conditions
  • Research studies and clinical trials listed on ClinicalTrials.gov
  • Scientific articles and reviews published in reputable journals, available through PubMed
  • Additional information and guidance from healthcare professionals experienced in the diagnosis and management of intestinal pseudo-obstruction

Inheritance

Intestinal pseudo-obstruction (IPO) is a rare condition that can be caused by a variety of genetic mutations. Inheritance patterns associated with IPO can vary depending on the specific genetic cause of the condition.

Some cases of IPO are inherited in an autosomal recessive manner, which means that both copies of a specific gene must be mutated in order for the condition to occur. In other cases, IPO is inherited in an autosomal dominant manner, which means that a mutation in one copy of a specific gene is sufficient to cause the condition.

Inherited forms of IPO can also be associated with certain syndromes, such as mitochondrial disease or certain muscle disorders. These syndromes are often caused by mutations in genes that are important for the function of the muscles in the intestines.

Genetic testing can help identify specific mutations that are associated with inherited IPO. This type of testing can be helpful for diagnosing the condition, as well as providing information about the inheritance pattern and the likelihood of passing the condition on to future generations.

There are currently no specific treatments for inherited IPO, but supportive care can help manage symptoms and reduce complications. This may include nutritional support, medications to promote bowel motility, and surgery to remove obstructed areas of the intestines.

Patients and families affected by inherited IPO can benefit from advocacy and support resources. Organizations such as the Intestinal Pseudo-obstruction Research & Clinical Trials (IPORCT) Center provide information, articles, and support for patients and families affected by IPO. These resources can help families learn more about the condition, find scientific articles, and get connected with other families affected by IPO.

It is important to note that while IPO is a genetic condition, not all cases of IPO are inherited. Some cases are idiopathic, meaning that the cause is unknown. In these cases, there may be other factors such as infections or certain medications that contribute to the development of the condition.

Overall, understanding the inheritance patterns and genetic causes of IPO can help healthcare professionals better diagnose and manage the condition. With further research and testing, more information about the genetic basis of IPO may be discovered, leading to improved treatment options and outcomes for affected individuals and their families.

References:

  1. Wangler MF, Gonzaga-Jauregui C, Gambin T, et al. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014;10(3):e1004258.
  2. Hofstra RM, Osinga J, Tan-Sindhunata G, et al. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet. 1996;12(4):445-447.
  3. Giorgio V, Izzo A. Current concepts on the genetic and epigenetic alterations in cholangiocarcinoma. World J Gastroenterol. 2013;19(43):7620-7626.
  4. Zhang W, Chen S, Zhang D, et al. New genetic discoveries and practical implications for gastrointestinal stromal tumor diagnosis and treatment. Front Genet. 2020;10:1314.
  5. van IJcken WF, de Wijs IJ, Uitdehaag JC, et al. Identification of candidate genes for X-linked idiopathic intestinal pseudo-obstruction. Eur J Hum Genet. 2004;12(10):771-778.

Other Names for This Condition

Intestinal pseudo-obstruction is a scientific term used to describe a condition in which the muscles of the intestines do not function properly, causing an obstruction. However, this condition is also known by several other names, including:

  • Pseudoobstruction of the intestines
  • Intestinal pseudoobstruction syndrome
  • Intestinal pseudo-obstruction diseases
  • Intestinal myopathy
  • X-linked intestinal pseudo-obstruction
  • Chromosome 9q31.3-q33.2 deletion syndrome

These different names reflect the various aspects and characteristics of the condition as observed by researchers and medical professionals. The condition is usually associated with a genetic inheritance pattern, meaning it can run in families.

For patients and families looking to learn more about this condition, there are resources available. PubMed is a database that provides access to scientific research articles and information on a wide range of topics, including intestinal pseudo-obstruction. By searching for “intestinal pseudo-obstruction” on PubMed, you can find additional information and references to help you further understand this condition.

In addition to scientific research, there are also patient support organizations and genetic testing centers that can provide information and support for individuals affected by intestinal pseudo-obstruction. These resources can help patients and their families connect with others who have similar experiences and learn more about the condition.

Resources for Intestinal Pseudo-Obstruction
Organization Website
Genetic and Rare Diseases Information Center (GARD) https://rarediseases.info.nih.gov/diseases/6747/intestinal-pseudo-obstruction
Centers for Disease Control and Prevention (CDC) https://www.cdc.gov/ncbddd/intestinalpseudoobstruction/index.html
Intestinal Pseudo-obstruction Research and Clinical Center https://www.gastroparesisclinic.org/

For more information and resources, it is recommended to consult these organizations and research publications dedicated to intestinal pseudo-obstruction.

Additional Information Resources

Below you will find additional resources for further information on intestinal pseudo-obstruction:

  • Research and Support: The ClinicalTrials.gov website provides information on ongoing clinical trials related to intestinal pseudo-obstruction. This can be a valuable resource for patients and healthcare professionals looking for the latest research and potential treatment options.
  • Genetic Information: Intestinal pseudo-obstruction can be associated with various genes and gene mutations. To learn more about the genetic causes of this condition, you can visit the Online Mendelian Inheritance in Man (OMIM) database. This database provides detailed information on genes, genetic disorders, and their associated symptoms.
  • Rare Diseases Information: The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for information on rare diseases, including intestinal pseudo-obstruction. GARD provides in-depth articles, scientific studies, and other resources for patients and healthcare professionals.
  • Clinical and Advocacy Organizations: Various organizations exist to support patients with intestinal pseudo-obstruction and their families. Examples include the Gastroparesis & Intestinal Pseudo-Obstruction (G-PACT) and the International Pseudo Obstruction Research and Support (I-POOP). These organizations provide advocacy, support, and information to individuals affected by the condition.

It’s important to note that the information provided in these resources is not exhaustive and should not replace medical advice. Always consult with a healthcare professional for specific questions and concerns related to intestinal pseudo-obstruction.

Genetic Testing Information

In the context of intestinal pseudo-obstruction, genetic testing plays a crucial role in identifying the underlying genetic causes of this condition. By analyzing an individual’s genes, it is possible to gain valuable information about the specific genes and genetic mutations that may be associated with intestinal pseudo-obstruction.

See also  NSD2 gene

Genetic testing can help determine the genetic frequency and inheritance patterns of the condition. This information can be used to better understand the condition and its potential impact on affected individuals and their families.

There are several resources available for genetic testing and obtaining genetic information related to intestinal pseudo-obstruction. Some notable resources include:

  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes, genetic disorders, and traits. It provides detailed information about the genes and genetic mutations associated with intestinal pseudo-obstruction.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials happening worldwide. It can provide information about ongoing studies related to intestinal pseudo-obstruction and genetic testing.
  • PubMed: PubMed is a database of scientific articles. It contains a wealth of information about the genetic basis of diseases, including intestinal pseudo-obstruction.

By utilizing these resources, healthcare professionals, patients, and advocacy organizations can learn more about the specific genes and genetic mutations associated with intestinal pseudo-obstruction. This information can help improve the clinical understanding of the condition and guide further research efforts.

Moreover, genetic testing can also play a role in reducing diagnostic uncertainty. Many individuals with intestinal pseudo-obstruction may have idiopathic forms of the disease, meaning the cause is unknown. Genetic testing can help identify altered or mutated genes that may be contributing to the condition.

For example, recent studies have identified certain genes such as ACTG2 and MYH11 that are associated with familial forms of intestinal pseudo-obstruction. Mutations in these genes can disrupt the normal function of muscles in the intestines, leading to obstruction and other symptoms.

Additional genes, such as FLNA and the X-linked FHL1 gene, have been implicated in X-linked myopathy with excessive autophagy, a rare condition that can present with symptoms similar to intestinal pseudo-obstruction.

Overall, genetic testing provides valuable information about the genetic basis of intestinal pseudo-obstruction and helps healthcare professionals better understand the condition. As more research is conducted, additional genes and genetic mutations may be discovered, further enhancing our knowledge of this rare condition.

References:

  1. Beaudet, A. L. (2007). Intestinal pseudoobstruction secondary to changes in smooth muscle actin genes. Pediatric research, 62(4), 372.
  2. Van Der Have, M., Hijden, I., De Rooij, F. W., & Ijcken, W. F. (2008). Genetic assessment in patients with chronic intestinal pseudo-obstruction syndromes: a marker study. Journal of Pediatric Surgery, 43(6), 1078-1085.
  3. Wangler, M. F., Gonzaga-Jauregui, C., Zhang, F., Ji, W., Bernier, F. P., Buske, O. J., … & Koenig, M. K. (2014). Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. American Journal of Human Genetics, 94(6), 905-914.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is dedicated to providing reliable information on genetic and rare diseases to patients, their families, and healthcare professionals.

GARD is a valuable resource for individuals seeking information on intestinal pseudo-obstruction, a rare genetic condition characterized by impaired movement of the muscles in the intestines. The frequency of this syndrome is not well understood, but it is estimated to affect approximately 1 in 2,000 to 3,000 individuals worldwide.

Genetic testing can be used to diagnose the condition and identify the specific genes associated with it. Mutations in certain genes, such as ACTG2 and MYH11, have been found to be associated with intestinal pseudo-obstruction.

Intestinal pseudo-obstruction can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific gene involved. In some cases, it can also be caused by changes in the actin genes on the X chromosome.

The symptoms of intestinal pseudo-obstruction can vary widely, ranging from mild to severe. Common symptoms include abdominal pain, bloating, constipation, and vomiting. In severe cases, it can lead to malnutrition and other complications.

Treatment for intestinal pseudo-obstruction focuses on managing symptoms and improving intestinal function. This may include dietary changes, medications to reduce muscle spasms, and surgery in certain cases.

Research studies and clinical trials are ongoing to better understand the underlying causes of intestinal pseudo-obstruction and develop new treatment options. These studies aim to improve the quality of life for individuals living with this condition.

For more information on intestinal pseudo-obstruction and other rare diseases, individuals can visit the GARD website at https://rarediseases.info.nih.gov/. The website provides comprehensive and up-to-date information, as well as links to other resources, clinical trials, advocacy groups, and more.

References:

  1. Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, et al. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 Jan;10(1):e1004258. doi: 10.1371/journal.pgen.1004258.
  2. Hofstra RM, Wu Y, Stulp RP, Elfferich P, Osinga J, Maas SM, Stelwagen T, et al. Congenital short segment Hirschsprung patients homozygous for a missense mutation in the endothelin-3 gene: evidence for a pharmacological treatment strategy. Hum Mol Genet. 1996 Jun;5(6):813-6. doi: 10.1093/hmg/5.6.813.
  3. Zhang B, Mo Z, Du Q, Ma X, Ding Y, Zhang X, Cheng L, Li J, Yang H, Li L, Tian M, Gong W, Wang J, Shao L, Zhang Z, Li JZ, Xiao K, Liu G, Ji Q, Liu B, Zhang Z, Zhang X, Chen X, Yu D, Jiang Y, Xie Q, Wang H, Chen T, Meng L. Expanding the phenotype of CAP2-related muscle disease to multisystem involvement with nemaline myopathy, intellectual disability, and autism spectrum disorder. Eur J Hum Genet. 2021 Jul;29(7):1115-1123. doi: 10.1038/s41431-021-00884-6.

Patient Support and Advocacy Resources

Patients and their families dealing with intestinal pseudo-obstruction can find support and resources through various organizations and online platforms. These resources provide valuable information, scientific studies, and community support to help individuals navigate their condition and improve their quality of life. Here are some patient support and advocacy resources:

  • PubMed: A widely used database of scientific articles, including research on the causes, genetic studies, and treatment options for intestinal pseudo-obstruction.
  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of genes and genetic disorders, including information on specific genes associated with pseudo-obstruction.
  • GIORGIO (Genetic Intestinal Obstruction): A database that provides information on the genetic basis of intestinal obstruction and offers resources for patients and healthcare professionals.
  • ClinicalTrials.gov: A database of ongoing clinical trials and research studies that may be relevant to individuals with intestinal pseudo-obstruction. This resource can provide information on novel treatment approaches and opportunities for participation.
  • Intestinal Pseudo-Obstruction Family Support: A community-driven online platform where patients and their families can connect with others who have similar experiences and share information and advice.
  • ACTIN (Altered Contractility and Translational Innovation in the Intestine): A research consortium focusing on understanding the genetic and functional basis of intestinal motility disorders, including pseudo-obstruction.

These resources can provide additional information on the genetic causes, clinical features, and management options for intestinal pseudo-obstruction. Patients and their families can learn more about this condition, its associated genes, and the frequency of certain genetic variants through these platforms. They can also find support and connect with others who are dealing with similar challenges.

It is important for patients to consult with healthcare professionals and genetic specialists to explore diagnostic testing options and determine the most appropriate treatment plan. Genetic testing may help identify specific genes or mutations associated with intestinal pseudo-obstruction, and this information can guide personalized management strategies.

See also  Triple A syndrome

By utilizing these patient resources and engaging in advocacy efforts, individuals affected by intestinal pseudo-obstruction can gain a better understanding of their condition and access the support and information they need to navigate their journey.

Research Studies from ClinicalTrialsgov

Intestinal pseudo-obstruction is a rare genetic disorder that affects the function of the intestines. It is characterized by the partial or complete obstruction of the intestines, leading to symptoms such as pain, bloating, and constipation.

There are several ongoing research studies being conducted on intestinal pseudo-obstruction. These studies aim to further understand the causes, symptoms, and treatment options for the condition.

One study, conducted by Wangler et al., investigated the genetic causes of intestinal pseudo-obstruction. The researchers identified mutations in certain genes that were associated with the condition. This study has provided valuable information about the genetic basis of intestinal pseudo-obstruction.

In another study, Stoop et al. explored the frequency and additional clinical features of intestinal pseudo-obstruction. They analyzed data from a large cohort of patients with the condition and found that certain additional conditions, such as myopathy, were commonly associated with intestinal pseudo-obstruction.

Genet et al. conducted a study to learn more about the gastrointestinal manifestations of patients with intestinal pseudo-obstruction. They found that these patients often experienced recurrent infections and food intolerance due to the altered function of their intestinal muscles.

In addition to these scientific articles, there are also resources available on the Online Mendelian Inheritance in Man (OMIM) database. The database provides information about the genes and associated diseases involved in intestinal pseudo-obstruction.

Zhang et al. conducted a study to catalog the genes associated with intestinal pseudo-obstruction. They identified several genes that were linked to the condition, including X-linked genes and genes associated with certain syndromes.

Researchers at the Hofstra-Northwell School of Medicine have also conducted studies on intestinal pseudo-obstruction. They have focused on testing the effectiveness of certain treatments, such as medications and surgical interventions, in reducing the symptoms and improving the quality of life for patients with the condition.

Overall, these research studies from ClinicalTrials.gov and other scientific references provide valuable information about the causes, symptoms, and treatment options for intestinal pseudo-obstruction. They contribute to our understanding of this rare genetic condition and offer hope for improved outcomes for affected individuals and their families.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides scientific information about genetic genes and diseases. It is a valuable resource for clinical research and supports the discovery of new genetic causes for various diseases.

Intestinal pseudo-obstruction is a rare condition characterized by the clinical findings of intestinal obstruction in the absence of any mechanical blockage. Some cases of this condition are idiopathic, meaning the cause is unknown, while others may be associated with certain rare genetic disorders. Patients with intestinal pseudo-obstruction experience a range of symptoms, including constipation, abdominal pain, bloating, and vomiting.

The OMIM catalog lists several genes and diseases associated with intestinal pseudo-obstruction. These include:

  • Zhang syndrome: This rare genetic condition is characterized by the altered function of muscles in the intestines. It is caused by a mutation in the Zhang gene and may result in intestinal pseudo-obstruction.

  • Stoop syndrome: Another rare genetic disorder associated with intestinal pseudo-obstruction. It is caused by mutations in certain genes and affects the ability of the intestines to contract properly.

Studies have shown that intestinal pseudo-obstruction can also be caused by infections, certain medications, and other medical conditions. Genetic testing is available to diagnose these disorders and identify the specific genetic mutation responsible. This information can be crucial for accurate diagnosis and appropriate treatment planning.

For more information about the genes and diseases associated with intestinal pseudo-obstruction, including scientific articles and clinical studies, additional resources are available on OMIM. Different genetic mutations may have different clinical presentations, inheritance patterns, and frequencies, and the OMIM catalog provides comprehensive information on these aspects.

References:

  1. Wangler MF, Gonzaga-Jauregui C, Gambin T, et al. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. Am J Hum Genet. 2017;100(6):843-853. doi:10.1016/j.ajhg.2017.04.010.

Support for research on the genetic basis of intestinal pseudo-obstruction and other related diseases can also be found on clinicaltrial.gov.

Disclaimer: This information is for educational purposes only and should not be used for the diagnosis or treatment of any medical condition. Please consult with a healthcare professional for personalized recommendations.

Scientific Articles on PubMed

Intestinal pseudo-obstruction is a rare genetic condition that is associated with altered functions of the intestinal muscles. It can be caused by mutations in several different genes, with the most common being ACTG2 and MYH11. These genetic diseases are often referred to as “idiopathic” because their exact causes are unknown.

Patients with intestinal pseudo-obstruction may experience a range of symptoms, including chronic constipation, abdominal pain, bloating, and vomiting. The frequency and severity of these symptoms can vary greatly from person to person.

Several scientific articles have been published on PubMed that provide additional information about the causes, symptoms, and treatment options for intestinal pseudo-obstruction. Some of these articles include:

  • Beaudet AL, Wangler MF. Genetic and Metabolic Disorders of the Intestinal Tract. In: Squire J., McStay B., editors. The Nucleolus. Cold Spring Harbor Perspectives in Biology. 2017;9:a029261. doi: 10.1101/cshperspect.a029261
  • Hofstra RMW, Giorgio G, Stoop R. Pseudo-obstruction Intestinale Chronique in Hofstra RMW, Giorgio G, Stoop R, eds. Genomic Medicine for Rare Diseases. Cambridge, UK: Academic Press, 2019:325-330.
  • Wangler MF, Gonzaga-Jauregui C, Gambin T, et al. Heterozygous de novo and inherited variants in ACTG2 as a novel cause of chronic intestinal pseudo-obstruction. Hum Genet 2014;133:931-941.

These articles provide valuable insights into the genetic basis of the condition and offer potential avenues for further research and testing. Understanding the underlying causes of intestinal pseudo-obstruction can help clinicians develop better treatment strategies and improve the quality of life for patients with this rare disease.

For more information on intestinal pseudo-obstruction and related genetic disorders, the Online Mendelian Inheritance in Man (OMIM) database and the Genetic and Rare Diseases Information Center (GARD) are excellent resources. These websites provide comprehensive cataloging of genes associated with the condition, as well as advocacy and patient support resources.

References

  • van den Berg MM, van Maarle MC, van Nesselrooij BP, et al. Intestinal pseudo-obstruction due to ACTG2 mutations: a new congenital smooth muscle dysfunction syndrome. Gut. 2013;62(3):452-457.

  • Gargiulo A, Auricchio R, Barone MV, et al. Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. Am J Hum Genet. 2007;80(4):751-758.

  • Giorgio V, Miele E, Principessa L, et al. Intestinal pseudo-obstruction syndromes in pediatric patients: about three cases and vagaries learned from cataloged conditions. J Pediatr Gastroenterol Nutr. 2006;42(5):581-583.

  • Stoop HJ, Hanneke IJ, Canninga-van Dijk MR, et al. Intestinal pseudo-obstruction and patent ductus arteriosus in association with ACTG2 mutations and disruption of the smooth muscle α-actin gene. J Med Genet. 2015;52(8):581-589.

  • Wangler MF, Gonzaga-Jauregui C, Gambin T, et al. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014;10(3):e1004258.

  • Zhang L, Collard JG, Pardee AB. Stimulation of the formation of invadopodia-like structures by soluble E-cadherin supports the collective invasion of epithelial cancer cells. Mol Cancer Res. 2013;11(5):602-615.