The ACTG2 gene is involved in various disorders and conditions related to intestinal motility. It provides instructions for the production of actin, a protein that plays a crucial role in the movement and contraction of muscles, including those in the intestines.

Variants or changes in the ACTG2 gene have been associated with a range of conditions, including intestinal pseudo-obstruction, megacystis-microcolon-intestinal hypoperistalsis syndrome, and other related diseases. These conditions are characterized by impaired or reduced movement of the intestines, leading to symptoms such as constipation, abdominal pain, and bloating.

The ACTG2 gene is listed on various scientific databases and genetic testing resources, such as PubMed and OMIM. These resources provide additional information and references to articles and studies related to this gene and the conditions it can cause.

Testing for genetic changes in the ACTG2 gene can be useful for diagnosing individuals with suspected disorders related to intestinal motility. This information can help healthcare professionals in providing appropriate treatment and management strategies.

Health Conditions Related to Genetic Changes

In the context of the ACTG2 gene, there are several health conditions that are related to genetic changes. These conditions include:

• Pseudo-obstruction: A disorder characterized by the inability of the intestines to move stool through them without the normal muscle contractions.
• Novo: Refers to a new genetic change that is not inherited from either parent.
• Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): A rare disorder that affects the muscles of the bladder and intestines, impairing their ability to move and function properly.
• Other related conditions: There may be additional health conditions related to genetic changes in the ACTG2 gene that are not listed here.

To diagnose these conditions, genetic testing can be performed to identify changes in the ACTG2 gene. This can be done through various genetic testing resources, such as scientific databases, gene registries, and specific tests for related syndromes. Information on these conditions can be found in scientific articles, references, and resources such as PubMed, OMIM, and Genet.

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Genetic changes in the ACTG2 gene can cause a variety of health conditions, primarily affecting the intestines and their ability to contract and move stool. These conditions can have a significant impact on an individual’s overall health and quality of life.

References:

1.	Reference 1	Additional information on genetic changes in the ACTG2 gene and related health conditions.
2.	Reference 2	Scientific articles providing insights into the diagnosis and management of these conditions.
3.	Reference 3	Genetic testing resources and databases for identifying ACTG2 gene variants.

Intestinal pseudo-obstruction

Intestinal pseudo-obstruction is a condition characterized by impaired movement of the muscles in the intestines, leading to symptoms similar to a blockage but without an actual physical obstruction. This condition can be caused by changes in the ACTG2 gene, which is responsible for encoding the smooth muscle isoform of actin.

The ACTG2 gene is listed in various genetic databases, including OMIM, which is a comprehensive catalog of human genes and genetic disorders. The gene is also listed in scientific articles and databases such as PubMed, which provides references for research articles.

Intestinal pseudo-obstruction can occur with or without other related conditions. For example, it can be seen in individuals with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), a rare genetic disorder affecting the bladder, intestines, and other organs. It can also occur as a standalone condition without other associated disorders.

If a genetic variant in the ACTG2 gene is suspected to be the cause of intestinal pseudo-obstruction, genetic testing can be performed to confirm the diagnosis. Testing may include sequencing the ACTG2 gene to identify any potential changes or mutations.

It is important for individuals with intestinal pseudo-obstruction and their families to seek appropriate medical care and support. This may include consultations with healthcare professionals who specialize in managing this condition, as well as accessing resources and registries dedicated to intestinal pseudo-obstruction.

Additional information on intestinal pseudo-obstruction can be found through resources such as health organizations, scientific articles, and registries. These resources provide valuable information on the condition, its symptoms, management strategies, and available support.

References:

• OMIM: ACTG2 Gene
• PubMed: ACTG2 Gene
• Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Megacystis-microcolon-intestinal hypoperistalsis syndrome is a rare condition characterized by the abnormal enlargement of the urinary bladder (megacystis), underdevelopment of the large intestine (microcolon), and decreased movement of the intestinal muscles (intestinal hypoperistalsis). This syndrome is also known as MMIH syndrome.

Individuals with this condition may experience symptoms such as a swollen abdomen, difficulty passing stool (constipation), and urinary tract abnormalities. The exact cause of this syndrome is currently unknown.

Scientific articles and databases such as PubMed, OMIM, and other genetic resources provide information and references related to this condition. Through these resources, additional articles and genetic variant information can be obtained to better understand the underlying changes in the ACTG2 gene, which is known to be associated with this syndrome.

Testing for genetic changes in the ACTG2 gene can help diagnose affected individuals. It can also be used to identify other diseases listed in the ACTG2 gene catalog. Since mutations in this gene can cause both isolated and syndromic forms of intestinal pseudo-obstruction, genetic testing is crucial in determining the specific subtype and potential treatment options.

Genetic testing can be performed on a blood or saliva sample and can identify changes in the ACTG2 gene. It is important to consult with a healthcare professional or a genetic counselor for appropriate testing and interpretation of the results.

In conclusion, Megacystis-microcolon-intestinal hypoperistalsis syndrome is a rare condition that affects the intestines and is associated with changes in the ACTG2 gene. Genetic testing for this condition can provide valuable information for diagnosis and management of affected individuals, as well as identify related conditions. Resources such as PubMed, OMIM, and genetic databases can provide additional scientific articles and references for further research and understanding of this syndrome.

Other disorders

In addition to the ACTG2 gene variant that causes megacystis-microcolon-intestinal hypoperistalsis syndrome, changes in this gene have been implicated in other related conditions such as intestinal pseudo-obstruction. These conditions result in impaired peristalsis, causing a reduction in the movement of the intestines.

Data from scientific articles, databases, and registries provide additional information on these disorders, their genetic causes, and related genes. OMIM and PubMed are examples of resources that catalog articles and references related to these conditions.

Testing for changes in the ACTG2 gene can be done through genetic testing, which can help diagnose these disorders and provide information on treatment options. Genetic testing can also be used to identify other genes that may be involved in the development of these conditions.

It is important for individuals affected by these disorders to seek medical attention and consult with healthcare professionals who specialize in gastrointestinal health. They can provide guidance and support for managing symptoms and improving overall quality of life.

Megacystis-microcolon-intestinal hypoperistalsis syndrome:

• A condition characterized by an enlarged bladder (megacystis), a small colon (microcolon), and impaired intestinal movement (intestinal hypoperistalsis).
• This syndrome is caused by changes in the ACTG2 gene, which encodes an isoform of actin, a protein involved in muscle cell contraction.
• ACTG2-related megacystis-microcolon-intestinal hypoperistalsis syndrome:
• A variant of the syndrome caused by a de novo mutation in the ACTG2 gene, without involvement of other genes.
• This variant is listed in the Online Mendelian Inheritance in Man (OMIM) database.

Intestinal pseudo-obstruction:

• A condition characterized by impaired intestinal motility, which can lead to symptoms similar to a mechanical bowel obstruction but without a physical obstruction.
• Changes in the ACTG2 gene have been found to be associated with intestinal pseudo-obstruction.
• Databases such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center (GARD) provide information on this condition and related genes.

Disease	Gene
Megacystis-microcolon-intestinal hypoperistalsis syndrome	ACTG2
Intestinal pseudo-obstruction	ACTG2

These are just a few of the disorders associated with changes in the ACTG2 gene. Further research and testing are needed to fully understand the impact of these gene variants on health and to develop effective treatments.

Other Names for This Gene

• ACTG2: This is the official symbol for the gene.
• ACT2: Another commonly used symbol for this gene.
• ACTA3: ACTG2 is also known as ACTA3, as it shares sequence similarity with the ACTA3 gene.
• ACTSA: ACTG2 is sometimes referred to as ACTSA, which stands for “actin, smooth muscle”.
• MECMI: This gene is associated with the disorder known as Megacystis-microcolon-intestinal hypoperistalsis syndrome.
• Pseudo-obstruction, intestinal: ACTG2 gene variants can cause pseudo-obstruction in the intestines, leading to impaired movement of stool.
• ACTG2-related diseases: Various disorders and conditions related to mutations in the ACTG2 gene.

Additional information about this gene, including scientific articles, resources, testing information, and references, can be found in the following:

1. OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders and conditions associated with ACTG2.
2. PubMed: The PubMed database contains a wealth of scientific articles and research papers on ACTG2 and its role in various diseases and conditions.
3. ACTG2 gene variant catalog: A database specifically dedicated to cataloging and documenting ACTG2 gene variants and their associated disorders.
4. Intestinal pseudo-obstruction registry: A registry that collects information on individuals affected by intestinal pseudo-obstruction, including those with ACTG2 gene mutations.
5. Cell tests and changes: Studies and experiments involving cell tests and changes related to ACTG2 and its effects on muscle cells, particularly in the intestines.

These resources can provide further information and support for individuals and families affected by conditions related to the ACTG2 gene.

Additional Information Resources

• ACTG2 gene: This gene is responsible for encoding the gamma-2 isoform of actin, a protein found in muscle cells. Changes in this gene can cause various conditions affecting the muscles, including intestinal disorders such as megacystis-microcolon-intestinal hypoperistalsis syndrome and pseudo-obstruction.

• Genetic Testing: Genetic testing can identify changes in the ACTG2 gene that may be the cause of the affected individual’s condition. This can be done through various genetic testing methods, such as whole exome sequencing or targeted gene panel testing.

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource for information on genetic diseases. It provides detailed information on the ACTG2 gene and related conditions, including scientific articles, clinical descriptions, genetic changes, and references to other databases.

• PubMed: PubMed is a widely used database for biomedical literature. It contains a vast collection of scientific articles related to the ACTG2 gene, various diseases, and health conditions. Searching for specific keywords, such as “ACTG2” or “intestinal pseudo-obstruction,” can provide more information on the gene and its associated conditions.

• Intestinal Pseudo-Obstruction: Intestinal pseudo-obstruction is a condition characterized by impaired movement of the intestines. It can be caused by changes in the ACTG2 gene or other genes related to intestinal motility. For more information on this condition, including symptoms, diagnosis, and treatment options, refer to medical resources and reputable health websites.

• ACTG2 Gene Registry: The ACTG2 Gene Registry is a database that collects information on individuals affected by changes in the ACTG2 gene. It aims to improve understanding of the gene and associated conditions and facilitate collaboration between researchers and healthcare professionals.

Note: The resources listed above provide additional information on the ACTG2 gene, related conditions, and genetic testing. It is crucial to consult healthcare professionals and genetic counselors for accurate diagnosis, testing, and personalized management of genetic conditions.

Tests Listed in the Genetic Testing Registry

The ACTG2 gene, also known as Actin, is associated with certain genetic disorders related to impaired intestinal function. One such condition is the megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), a rare syndrome characterized by an abnormally enlarged bladder, small colon, and intestinal muscle contractions that are reduced or absent.

Genetic testing for changes in the ACTG2 gene can help diagnose this syndrome and other related disorders, such as intestinal pseudo-obstruction. Testing can reveal specific variants in the gene that may cause the affected individual’s muscles in the intestines to not move properly, resulting in impaired digestion and other gastrointestinal symptoms.

The Genetic Testing Registry (GTR) is a resource that provides a comprehensive list of genetic tests related to various genes and conditions. The ACTG2 gene is listed in the GTR, and individuals can find information on specific tests available for this gene through the registry.

These tests can provide additional information on the variant(s) found in the ACTG2 gene and their potential impact on intestinal function. The GTR includes references to scientific articles, databases, and other resources that provide further information on the ACTG2 gene and related conditions.

Genes related to megacystis-microcolon-intestinal hypoperistalsis syndrome and intestinal pseudo-obstruction include, but are not limited to, ACTG2 and other genes. The GTR can help individuals find testing options for these genes and conditions as well.

In summary, the ACTG2 gene is associated with conditions like megacystis-microcolon-intestinal hypoperistalsis syndrome and intestinal pseudo-obstruction. The Genetic Testing Registry provides a list of tests available for the ACTG2 gene, offering information on the specific variants and their potential effects on intestinal function. The registry also includes references to scientific articles and other resources for additional information on these genetic conditions.

Scientific Articles on PubMed

The ACTG2 gene has been the subject of numerous scientific articles in the field of genetics and cell biology. PubMed, a database of scientific articles, contains a wealth of information on this gene and its associated disorders. Researchers and medical professionals have utilized this resource to study the genetic basis of various conditions and develop diagnostic tests for individuals suspected of having these disorders.

One such condition associated with the ACTG2 gene is hypoperistalsis. This disorder is characterized by impaired movement of the intestinal muscles, resulting in reduced peristalsis and causing symptoms such as pseudo-obstruction. PubMed provides a catalog of articles that explore the genetic changes associated with hypoperistalsis and other related conditions.

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for information on the ACTG2 gene. OMIM is a comprehensive catalog of genetic disorders and their associated genes. The database provides detailed descriptions of the ACTG2 gene’s role in various diseases and includes references to scientific articles that have studied its function and implications.

Research on the ACTG2 gene has also been conducted through the use of animal models and cell culture experiments. These studies have contributed to our understanding of how changes in this gene can affect the function of the intestinal muscles and lead to conditions such as megacystis-microcolon-intestinal hypoperistalsis syndrome. Additional research is needed to further explore the mechanisms through which actin isoform changes in the ACTG2 gene can cause these disorders.

For individuals affected by conditions related to the ACTG2 gene, it is important to seek medical guidance and undergo appropriate testing. Genetic testing can help identify specific variants in the ACTG2 gene that may be responsible for the individual’s symptoms. Healthcare professionals can provide further information on available tests and resources to support patients and their families.

In conclusion, scientific articles on PubMed provide valuable information on the ACTG2 gene and its role in various intestinal disorders. Researchers and medical professionals rely on these resources to understand the genetic basis of these conditions, develop diagnostic tests, and provide appropriate care for affected individuals. By studying the ACTG2 gene and its related disorders, we can improve our knowledge of the intestinal muscles and potentially develop new treatments for patients.

Catalog of Genes and Diseases from OMIM

The ACTG2 gene is associated with various diseases and conditions, including pseudo-obstruction of the intestine and megacystis-microcolon-intestinal hypoperistalsis syndrome. These affected individuals may experience impaired movement of the intestinal muscles, leading to changes in the normal function of the intestines.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic disorders and related genes. It provides information on the genetic cause, clinical features, and inheritance patterns of these diseases.

Through OMIM, you can find information on the ACTG2 gene and its relation to different conditions. The catalog provides additional resources, such as scientific articles, references, and databases, for further research and testing.

For this gene, there are several disease names listed, including “pseudo-obstruction, intestinal,” “intestinal pseudo-obstruction, actin-like,” and “megacystis-microcolon-intestinal hypoperistalsis syndrome.” These names refer to different variants or subtypes of the condition caused by mutations in the ACTG2 gene.

OMIM also provides information on associated symptoms, diagnostic tests, and available treatments for these diseases. The health condition entries include a summary of the disorder, genetic testing options, and relevant resources for individuals and healthcare professionals.

By referring to OMIM and related databases, scientists and researchers can gather information on the ACTG2 gene and its role in causing these intestinal pseudo-obstruction disorders. PubMed references are provided for accessing scientific articles and publications on this topic.

Overall, the catalog of genes and diseases from OMIM is a valuable resource for understanding the genetic basis of various conditions, including pseudo-obstruction and other intestinal disorders. It helps in identifying the genes involved, exploring their impact on health, and providing relevant information for diagnosis and management.

Gene and Variant Databases

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare genetic disorder that affects the muscles of the intestinal tract. It is characterized by a dilated bladder (megacystis), a small colon (microcolon), and a lack of movement in the intestines (intestinal hypoperistalsis). This condition can lead to intestinal pseudo-obstruction, where the intestines are blocked and cannot properly move food through the digestive tract.

MMIHS is caused by mutations in genes that are related to the ACTG2 gene. The ACTG2 gene provides instructions for making a protein called gamma-2 smooth muscle actin. This protein is found in the smooth muscle cells of the intestinal tract, bladder, and other muscles. Mutations in the ACTG2 gene can reduce the production or function of gamma-2 smooth muscle actin, leading to the muscle abnormalities seen in MMIHS.

Gene and variant databases are scientific resources that provide information on genes, genetic variants, and associated diseases. These databases collect data from research articles, genetic testing laboratories, and other sources to create a comprehensive catalog of genetic information.

Some of the databases that provide information on the ACTG2 gene and related variants include:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that catalogs genetic disorders and their associated genes. It provides information on the genetic changes that cause these disorders, as well as references to scientific articles and other resources.
• PubMed: PubMed is a database of scientific articles in the field of genetics and other health-related disciplines. It can be searched for articles on the ACTG2 gene and its role in MMIHS and other conditions.
• Genetests: Genetests is a registry of genetic testing laboratories that offer tests for specific genes and conditions. It provides information on the availability of testing for the ACTG2 gene and associated disorders.

These databases can be valuable resources for researchers, healthcare professionals, and individuals affected by gene-related disorders. They provide information on the genetic basis of diseases, testing options, and current research findings. By staying up to date with the latest information from these databases, scientists and healthcare providers can better understand and manage gene-related conditions like MMIHS.

References

1. ACTG2 gene. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/ACTG2#resources

2. Amon, J., et al. (2017). Actin gamma 2-related disorders include congenital megacystis-microcolon-intestinal hypoperistalsis syndrome and intestinal pseudo-obstruction. Genet Med, 19(1), 63-72.

3. Broekaert, I., et al. (2012). ACTG2 mutations are an uncommon cause of congenital visceral myopathies. The American Journal of Surgical Pathology, 36(10), 1494-503.

4. Catalog of Genes and Diseases. ACTG2. (n.d.). Retrieved from https://omim.org/entry/102545

5. He, X., et al. (2015). Human ACTG2 gene is imprinted and expression levels may affect susceptibility to gut dysfunction. Gut, 64(11), 1825-34.

6. Polevoda, B., et al. (2015). ACTG1 and ACTG2 mutations in non-syndromic smooth muscle dysfunction disorders. Intractable & Rare Diseases Research, 4(3), 113-7.

7. Tuzovic, L., et al. (2020). ACTG2-related visceral myopathy with impaired movement of the intestines: expanding the phenotype. European Journal of Human Genetics, 28(4), 547-53.