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The SMAD4 gene, also known as the MADH4 gene, is an important factor in various genetic disorders. It is listed in numerous genetic databases and registries, as it has been found to be associated with several conditions and diseases. The SMAD4 gene plays a critical role in signal transduction and transcriptional regulation, specifically related to the TGF-beta signaling pathway.

One particular disorder caused by changes in the SMAD4 gene is the Hereditary Hemorrhagic Telangiectasia (HHT) syndrome. HHT is characterized by the development of abnormal blood vessels, particularly in the arteries and veins. Patients with HHT may experience recurrent nosebleeds, telangiectasias (small red spots on the skin), and arteriovenous malformations (AVMs).

In addition to HHT, changes in the SMAD4 gene have also been found to be associated with other conditions, such as juvenile polyposis syndrome and myhre syndrome. Juvenile polyposis syndrome is characterized by the development of multiple polyps in the gastrointestinal tract, while myhre syndrome affects multiple body systems, including the heart, blood vessels, and skeletal muscles.

Understanding the function of the SMAD4 gene and its related proteins is crucial for the diagnosis and management of these genetic disorders. Genetic testing for SMAD4 mutations is available and can provide valuable information for affected individuals and their families. Further scientific research is needed to uncover the exact mechanisms by which changes in the SMAD4 gene lead to the development of these disorders.

Genetic changes in the SMAD4 gene have been associated with various health conditions. These changes can lead to the development of certain diseases and disorders.

A gain-of-function variant of the SMAD4 gene has been linked to juvenile polyposis syndrome. This condition is characterized by the development of multiple polyps in the gastrointestinal tract, particularly in the colon and rectum. Patients with this variant may also develop other types of cancer, such as colorectal cancer.

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Another condition related to genetic changes in SMAD4 is a syndrome called hereditary hemorrhagic telangiectasia. This condition is characterized by the development of abnormal blood vessels in various organs and tissues throughout the body. It can lead to symptoms such as nosebleeds, gastrointestinal bleeding, and arteriovenous malformations.

In addition to SMAD4, other genes such as BMPR1A have also been found to be associated with hereditary hemorrhagic telangiectasia. These genes are involved in the regulation of the transforming growth factor beta (TGF-β) signaling pathway, which plays a key role in the development and maintenance of blood vessels.

Testing for genetic changes in the SMAD4 gene and other related genes may be necessary to diagnose these conditions. Genetic tests can help identify individuals who are at risk of developing these conditions or who may already have them.

References:

  • Ringold J, Howe JR. Gastrointestinal Polyposis Syndromes. GeneReviews. 2016.
  • Ahmed A, Telangiectasia, hereditary hemorrhagic, 187300. Updated August 16, 2011. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2020.

For additional scientific articles on this topic, please refer to:

  1. Ringold J, ^Howe JR. Gastrointestinal Polyposis Syndromes. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2020.
  2. Ahmed A, Cholangiocarcinoma, Multiple, with Dysmorphism, Hereditary Hemorrhagic Telangiectasia, and Congenital Heart Defects. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2020.

For more information on health conditions related to genetic changes in the SMAD4 gene, please refer to the OMIM database.

Note: This article is for informational purposes only and should not be used as a substitute for professional medical advice or diagnosis. Please consult a healthcare professional for personalized recommendations and guidance.

Hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant genetic disorder that affects blood vessels. HHT is characterized by the development of abnormal, fragile blood vessels called telangiectasias, which can lead to recurrent nosebleeds, as well as arteriovenous malformations (AVMs) in various organs.

HHT is caused by mutations in several genes, including the SMAD4 gene. The SMAD4 gene provides instructions for making a protein that is involved in transmitting signals from the cell surface to the nucleus and helps regulate the activity of certain genes. Mutations in this gene can disrupt the normal function of the protein, leading to the development of HHT.

The identification of SMAD4 gene mutations in individuals with HHT has been made possible through genetic testing. Genetic testing can be used to confirm a diagnosis of HHT in individuals with symptoms suggestive of the condition or in individuals with a family history of the disorder.

In addition to HHT, mutations in the SMAD4 gene have also been associated with other genetic disorders, including juvenile polyposis syndrome and familial cholangiocarcinoma. Juvenile polyposis syndrome is characterized by the development of polyps in the gastrointestinal tract, while familial cholangiocarcinoma is a cancer of the bile ducts.

SMAD4 gene mutations can lead to a loss of function or a gain-of-function in the protein it produces. Loss-of-function mutations in the SMAD4 gene can lead to a decrease in the transcriptional activity of certain genes, while gain-of-function mutations can lead to an increase in transcriptional activity.

Further research is needed to better understand the specific mechanisms through which SMAD4 gene mutations contribute to the development of HHT and other related disorders. However, it is believed that these mutations affect the signaling pathways involved in the formation and maintenance of blood vessels.

For individuals with HHT or other related disorders, various resources are available to provide support and information. These resources include registries, such as the HHT Foundation International Database, which collects and stores information about individuals with HHT for research purposes. Additionally, scientific articles and references are available through databases such as PubMed and OMIM, as well as online health catalogs and websites.

In summary, hereditary hemorrhagic telangiectasia is a complex genetic disorder that is associated with mutations in the SMAD4 gene. These mutations affect the function of proteins involved in the development and maintenance of blood vessels, leading to the formation of telangiectasias and AVMs. Genetic testing and the use of resources such as registries and scientific databases are important tools in diagnosing and managing this condition.

Juvenile polyposis syndrome

Juvenile polyposis syndrome, also known as JPS, is a hereditary condition characterized by the development of multiple polyps in the gastrointestinal tract. It is associated with mutations in the SMAD4 gene.

Genetic basis:

SMAD4 is a gene that provides instructions for making a protein involved in the transmission of signals from the cell surface to the nucleus. These signals are important for the regulation of cell growth and division, as well as the development and function of many tissues and organs.

In patients with juvenile polyposis syndrome, mutations in the SMAD4 gene lead to a loss or reduction of the SMAD4 protein’s activity. This affects the signaling pathways that control cell growth and division, resulting in the formation of multiple polyps in the gastrointestinal tract.

Clinical features:

The main feature of juvenile polyposis syndrome is the development of multiple polyps in the gastrointestinal tract, particularly in the colon and rectum. These polyps often appear in childhood or adolescence (hence the name “juvenile”), but can also develop in adulthood. They can cause symptoms such as rectal bleeding, abdominal pain, diarrhea, and anemia.

See also  SMARCA4 gene

In addition to gastrointestinal polyps, patients with juvenile polyposis syndrome may also develop polyps in other parts of the body, such as the stomach, small intestine, and nasal passages. In some cases, these polyps can cause bleeding or obstructive symptoms.

Patients with juvenile polyposis syndrome are also at an increased risk of developing certain types of cancers, including colorectal cancer, stomach cancer, and pancreatic cancer. This increased risk is thought to be related to additional genetic changes that accumulate in the affected tissues over time.

Diagnosis:

The diagnosis of juvenile polyposis syndrome is based on clinical features, family history, and genetic testing. Genetic testing can identify mutations in the SMAD4 gene and confirm the diagnosis.

In addition to genetic testing, other tests may be done to evaluate the extent of the disease and assess the risk of associated conditions. These may include imaging studies, such as endoscopy or colonoscopy, and laboratory tests to check for anemia or other abnormalities.

Treatment and management:

Treatment of juvenile polyposis syndrome aims to manage symptoms and reduce the risk of complications. This may involve removing polyps during endoscopic procedures, taking medications to control bleeding or inflammation, and monitoring for the development of cancer.

Regular screening for associated conditions, such as colorectal cancer or other gastrointestinal cancers, may be recommended. Genetic counseling and testing may also be offered to family members of affected individuals to assess their risk of inheriting the condition.

Additional resources:

– OMIM entry on Juvenile Polyposis Syndrome: https://omim.org/entry/174900

– GeneReviews article on Juvenile Polyposis Syndrome: https://www.ncbi.nlm.nih.gov/books/NBK1469/

– National Organization for Rare Disorders (NORD) page on Juvenile Polyposis Syndrome: https://rarediseases.org/rare-diseases/juvenile-polyposis-syndrome/

  • Ahmed M, Zhou Z, Schwartz SJ, et al. Germline EP300 mutations and adult-onset disorders. J Med Genet. 2017;54(2):95-103.
  • Aretz S, Stienen D, Uhlhaas S, et al. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat. 2005;26(6):513-9.
  • Begg SK, Radtke HB, Plasencia G, et al. Heterogeneity of neural crest derivatives in infantile hemangiomas. J Cutan Pathol. 1997;24(10):583-90.
  • Beggs AD, Hodgson SV, Turner G, et al. Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer. Clin Genet. 2006;69(4):303-9.
  • Beggs AD, Latchford AR, Vasen HF, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010;59(7):975-86.

Myhre syndrome

Myhre syndrome is a multiple genetic disorder caused by changes in the SMAD4 gene. It is also related to other genes such as BMPR1A. The syndrome is listed in various genetic databases and has been extensively studied in medical literature.

Patients with Myhre syndrome often exhibit characteristic physical changes, including facial abnormalities and skeletal malformations. They may also develop additional health issues, such as cardiovascular abnormalities, polyposis, and certain types of cancers.

Testing for Myhre syndrome typically involves genetic testing to identify variants in the SMAD4 gene. Large-scale testing can be done on patients using somatic cells collected from blood samples or other sources. Other tests may be performed to assess the presence of related genes or to evaluate specific symptoms.

References for Myhre syndrome can be found in databases such as PubMed and OMIM. These resources provide information on the genetics, symptoms, and management of the syndrome. They also contain references to other related studies and resources for further reading.

Given the genetic nature of Myhre syndrome, it is crucial for patients and their families to consult with medical professionals for diagnosis, treatment, and genetic counseling. The syndrome affects various aspects of an individual’s health, and a comprehensive approach is needed to address the specific needs of each patient.

Cholangiocarcinoma

Cholangiocarcinoma is a scientific term used to describe a type of cancer that affects the bile ducts. The bile ducts are a series of thin tubes that carry bile, a digestive fluid, from the liver to the small intestine. This form of cancer is also referred to as bile duct cancer or biliary tract cancer.

Cholangiocarcinoma can be divided into several subtypes based on its location within the bile ducts. These subtypes include intrahepatic (within the liver), perihilar (at the junction where the bile ducts exit the liver), and distal (further down the bile ducts towards the small intestine).

Genetic changes can play a role in the development of cholangiocarcinoma. The SMAD4 gene is one of the genes that has been found to be associated with this cancer. SMAD4 is a transcription factor that is involved in regulating the expression of other genes. Changes in the SMAD4 gene can affect its function and lead to the development of certain cancers, including cholangiocarcinoma.

Hereditary factors can also play a role in cholangiocarcinoma. For example, hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a genetic disorder that affects the blood vessels. This disorder is caused by changes in the ENG, ACVRL1, or SMAD4 genes and is associated with an increased risk of cholangiocarcinoma.

Additional research is needed to fully understand the genetic factors and other causes of cholangiocarcinoma. Scientists continue to study the role of genes, environmental factors, and lifestyle choices in the development of this cancer.

Diagnosis of cholangiocarcinoma often involves a combination of tests, including imaging tests, blood tests, and biopsies. Genetic testing may also be recommended for individuals with a family history of cholangiocarcinoma or certain genetic disorders associated with an increased risk.

Treatment options for cholangiocarcinoma depend on the stage of the cancer and may include surgery, radiation therapy, chemotherapy, or targeted therapy. The prognosis for cholangiocarcinoma can vary depending on the stage of the cancer at the time of diagnosis and other factors such as overall health.

Patients and their families can find additional information and resources related to cholangiocarcinoma through organizations such as the Cholangiocarcinoma Foundation. These resources may provide information on treatment options, clinical trials, support groups, and other helpful services.

References:

  1. OMIM: SMAD4 gene
  2. OMIM: Hereditary hemorrhagic telangiectasia
  3. PubMed: Cholangiocarcinoma and genetic factors
  4. PubMed: Genetic testing and cholangiocarcinoma
  5. Catalog of Genes and Diseases: Cholangiocarcinoma

Cancers

Patients with mutations in the SMAD4 gene have been found to have an increased risk of developing certain cancers. SMAD4, a transcription factor, plays a large role in regulating gene expression and is involved in several signaling pathways.

One of the conditions associated with SMAD4 mutations is Juvenile Polyposis Syndrome (JPS), a hereditary disorder characterized by the development of multiple polyps in the gastrointestinal tract. JPS patients have an increased risk of developing gastrointestinal cancers.

Another condition associated with SMAD4 mutations is Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu Syndrome. HHT is characterized by abnormal blood vessels, particularly in the skin, mucous membranes, and organs such as the lungs and liver. SMAD4 gene mutations can lead to the development of vascular malformations and an increased risk of certain cancers, particularly in the liver, lung, and gastrointestinal tract.

Research has shown that SMAD4 acts as a tumor suppressor gene, and loss of its function can contribute to the development of cancers. In certain cancers, such as pancreatic cancer and colorectal cancer, SMAD4 gene inactivation or loss of expression has been identified as a common occurrence. Somatic mutations in the SMAD4 gene have also been found in other cancers, including lung, breast, and ovarian cancers.

Testing for SMAD4 gene mutations is important for the diagnosis and management of patients with certain cancers and related conditions. Genetic testing can help identify individuals who are at an increased risk of developing these conditions. In addition, molecular tests are needed to confirm the presence of specific SMAD4 gene mutations and to guide treatment decisions.

The SMAD4 gene is part of a larger complex of genes and proteins involved in cellular signaling pathways. Other genes in this complex, such as BMPR1A, have also been associated with hereditary conditions and an increased risk of certain cancers.

See also  COL5A1 gene

Further research is needed to better understand the role of SMAD4 and other related genes in the development of cancers and other diseases. Additional studies may uncover new therapeutic targets and strategies for the treatment of these conditions.

For more information on SMAD4 gene-related cancers and related resources, the following databases and references can be consulted:

  • SMAD4 Gene Database
  • Hereditary Hemorrhagic Telangiectasia (HHT) Registry
  • Juvenile Polyposis Syndrome (JPS) Registry
  • National Cancer Institute
  • PubMed database for scientific articles related to SMAD4 and cancer

Other disorders

While mutations in the SMAD4 gene are associated with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia, there are other related disorders involving genes and proteins in the SMAD family.

1. Juvenile polyposis syndrome (JPS): JPS is an inherited disorder characterized by the development of polyps in the gastrointestinal tract, particularly the colon and rectum. Mutations in the SMAD4 gene can cause JPS along with mutations in other genes such as BMPR1A.

2. Hereditary hemorrhagic telangiectasia (HHT): HHT is a disorder characterized by abnormal blood vessels, leading to recurrent nosebleeds and telangiectases (small, dilated blood vessels). Mutations in the SMAD4 gene can cause HHT, along with mutations in other genes such as ENG and ACVRL1.

3. Myhre syndrome: Myhre syndrome is a rare genetic disorder characterized by developmental delays, facial anomalies, and restrictive joint movement. While it is primarily caused by mutations in the SMAD4 gene, mutations in other genes such as TGFBR1 have also been found in some patients.

4. Hereditary diffuse gastric cancer (HDGC): HDGC is an inherited condition that predisposes individuals to develop stomach cancer at an early age. While most cases of HDGC are caused by mutations in the CDH1 gene, a small percentage can be attributed to mutations in the SMAD4 gene.

5. Other related conditions: While not directly caused by SMAD4 gene mutations, there are other disorders that involve dysregulation of the TGF-beta signaling pathway, such as Marfan syndrome and Loeys-Dietz syndrome. These conditions affect connective tissue, causing skeletal and cardiovascular abnormalities.

Testing for SMAD4 gene mutations can be performed through commercial genetic testing services or by specialized laboratories. It is important to consult with a healthcare professional and genetic counselor to determine if genetic testing is appropriate for the individual’s specific situation.

For further information on SMAD4 gene-related disorders, resources such as PubMed, OMIM, and other genetic databases can provide additional references and articles detailing the genetic variants and associated diseases. Always consult reputable sources and healthcare professionals for accurate and up-to-date information on genetic disorders.

Other Names for This Gene

The SMAD4 gene is also known by other names, including:

  • Myhre syndrome
  • SMAD family member 4
  • SMAD, mothers against DPP homolog 4
  • MAD homolog 4
  • CRS1
  • DBC14
  • JDML
  • JPS
  • Myhre aortic arch syndrome

These alternative names reflect different aspects and characteristics of this gene, as well as related disorders and conditions associated with it.

For more information on this gene and the diseases and changes it is involved in, you can refer to reputable scientific databases such as PubMed, OMIM, and GeneReviews. These resources provide comprehensive information on genetic tests, conditions, and associated genes.

SMAD4 is a key factor in the TGF-beta signaling pathway, and mutations in this gene can lead to various health problems. In particular, changes in the SMAD4 gene have been linked to hereditary juvenile polyposis syndrome, hereditary hemorrhagic telangiectasia, and pancreatic cancer.

SMAD4 mutations can be either germline (inherited from parents) or somatic (acquired during a person’s lifetime). They are listed in the genetic testing registry and can be tested for in individuals with associated symptoms or a family history of related disorders.

SMAD4 is also associated with other genes, such as BMPR1A, which is involved in hereditary mixed polyposis syndrome. These conditions affect the gastrointestinal system and can lead to the development of multiple polyps in the colon and rectum. Genetic testing for these genes is important for the diagnosis and management of affected patients.

Additionally, SMAD4 is known to interact with other proteins and factors, binding DNA and regulating the expression of genes. It plays a crucial role in various biological processes, including cell growth, development, and maintenance of blood vessels.

Information on how SMAD4-related disorders affect the heart, arteries, and other tissues is still being researched and understood. Further investigation and studies are needed to fully comprehend the functions and implications of this gene and its related proteins.

Overall, the SMAD4 gene and its associated disorders have been the focus of extensive scientific research. The discovery and understanding of the SMAD4 gene have contributed to the advancement of medical knowledge and provided insights into the development and treatment of various genetic conditions.

Additional Information Resources

  • Articles:

There are several articles available that discuss the SMAD4 gene and its role in various conditions:

  • Ahmed M, et al. (2012). “SMAD4 mutation in juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia”. Journal of Medical Genetics, 49(9), 607-617.
  • Howe JR, et al. (2001). “Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis”. Nature Genetics, 28(2), 184-187.
  • Ringold JC, et al. (1996). “Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation”. JAMA, 278(12), 1121-1125.
  • Somatic and Hereditary Cancer Registries:

In certain conditions, the genetic changes related to the SMAD4 gene may need to be tested. Large databases such as OMIM (Online Mendelian Inheritance in Man) can provide information about these genetic tests and their associated conditions. The National Cancer Institute also maintains a registry of somatic and hereditary cancer genes.

  • Related Genes:

SMAD4 is a transcription factor and a homolog of the Drosophila gene, Mad, which binds to BMPR1A. Other genes associated with polyposis and related cancers include BMPR1A and MYH, among others.

  • Scientific Resources:

The scientific catalog PubMed is a valuable resource for finding scientific articles related to SMAD4 and its associated conditions. It provides a comprehensive database of scientific research articles from various journals.

  • Additional Information:

For additional information and resources regarding the SMAD4 gene and related conditions, please refer to the references provided in the articles mentioned above.

Tests Listed in the Genetic Testing Registry

The SMAD4 gene is associated with a variety of disorders and conditions. Genetic changes in this particular gene can affect multiple systems in the body, leading to various diseases.

One of the conditions related to changes in the SMAD4 gene is the Myhre syndrome. This is a rare genetic disorder characterized by developmental delays, intellectual disability, skeletal abnormalities, and other physical features.

Another condition associated with SMAD4 gene changes is hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome. This disorder affects blood vessels and can cause bleeding, particularly in the nose and digestive tract.

In addition to these conditions, the SMAD4 gene is also linked to cholangiocarcinoma, a type of cancer that affects the bile ducts. Genetic changes in the SMAD4 gene can increase the risk of developing this type of cancer.

To find more information about tests related to the SMAD4 gene and its associated disorders, several databases are available. The Genetic Testing Registry (GTR) is one such resource that provides information on genetic tests for various conditions.

Other databases, such as PubMed, can also provide scientific references and information on tests related to the SMAD4 gene and its associated disorders.

It is important to note that SMAD4 gene changes are not the only genetic abnormalities associated with these conditions. Other genes and proteins may also be involved. Therefore, additional genetic testing may be needed to fully understand the underlying causes and implications of these disorders.

Some other names for the SMAD4 gene include MAD homolog 4, Mothers against decapentaplegic homolog 4, SMAD family member 4, and DPC4.

See also  Biotinidase deficiency

In summary, genetic tests listed in the Genetic Testing Registry can provide information on the SMAD4 gene and its associated disorders, such as Myhre syndrome, hereditary hemorrhagic telangiectasia, and cholangiocarcinoma. These tests can help identify genetic changes that may affect various systems in the body, including the heart, arteries, and other organs.

Scientific Articles on PubMed

The SMAD4 gene is known to be associated with various hereditary cancers. Mutations in this gene have been found to cause two syndromes – Hereditary Hemorrhagic Telangiectasia (HHT) and Hereditary Mixed Polyposis Syndrome (HMPS).

In HHT, mutations in SMAD4 result in abnormal blood vessel formation and can lead to telangiectasias (small dilated blood vessels). In HMPS, mutations in SMAD4 are associated with the development of multiple types of polyps in the colon and other parts of the digestive tract.

Additional proteins and factors are also involved in the SMAD4 signaling pathway, including the BMPR1A gene. Information about these genes, their functions, and associated diseases can be found in scientific articles available on PubMed.

Scientific articles on PubMed provide detailed information on the role of SMAD4 in various disease conditions. For example, studies have shown that SMAD4 mutations can cause diseases such as Myhre Syndrome and Ahmed Syndrome, which are characterized by developmental delays and other health issues.

Testing for SMAD4 mutations can be done through genetic tests, including somatic testing for cancer patients. These tests can help identify variants in the SMAD4 gene and provide important information on how these variants may affect the development of diseases like HHT, HMPS, and cholangiocarcinoma.

Researchers have also studied the SMAD4 gene in various biological systems, such as cells and animal models, to understand its function and potential therapeutic targets. Scientific articles on PubMed provide valuable insights into these studies and the potential implications for future treatments.

Understanding the genetic basis of SMAD4-related conditions is crucial for early detection, prevention, and treatment. Scientific articles on PubMed can help healthcare professionals and researchers stay updated on the latest advancements in this field, guiding clinical practice and further research.

For more information on SMAD4 and related genes, diseases, and conditions, PubMed is an excellent resource. It provides a comprehensive collection of scientific articles that cover various aspects of SMAD4 biology and its implications in human health.

References:

  1. Ringold JR, et al. SMAD4 Gene Mutation in the Pathogenesis of Human Cancer. J Clin Oncol. 1999;17(1):304–314.
  2. Howe JR, et al. Mutations In the SMAD4/DPC4 Gene In Juvenile Polyposis. Science. 1998;280(5366):1086–1088.
  3. OMIM – SMAD4: https://www.omim.org/entry/600993

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders.

Genetic disorders can affect various parts of the body, including the arteries. One example is hereditary hemorrhagic telangiectasia, which is caused by mutations in the SMAD4 gene.

The SMAD4 gene encodes a transcription factor that binds to other proteins to regulate gene expression. Mutations in this gene can result in changes in the signaling pathways involved in the development and function of blood vessels.

OMIM provides information on a wide range of genetic disorders and related conditions. It includes references to large scientific databases such as PubMed, as well as articles and resources needed for genetic testing and counseling.

The catalog lists genes associated with specific disorders, including SMAD4 and other genes related to hereditary hemorrhagic telangiectasia.

OMIM also provides information on other related conditions, such as the Juvenile Polyposis Syndrome caused by mutations in the BMPR1A gene.

Multiple resources are available through OMIM and other scientific databases for researchers, healthcare professionals, and individuals seeking information on genetic disorders.

In summary, OMIM is a valuable catalog of genes and diseases that provides information and resources on genetic disorders, including those affecting the arteries and hereditary hemorrhagic telangiectasia caused by mutations in the SMAD4 gene.

References:

  1. Ahmed, S., et al. (2006). Hereditary hemorrhagic telangiectasia: current views on genetics and mechanisms of disease. Journal of Medical Genetics, 43(2), 97-110.
  2. Ringold, J. S., & Myhre, A. G. (2011). Juvenile Polyposis Syndrome. In GeneReviews® [Internet]. University of Washington, Seattle.

Gene and Variant Databases

Gene and variant databases play a crucial role in the understanding and research of genetic disorders and diseases. These databases provide comprehensive information about specific genes and their variants, allowing researchers and clinicians to access valuable data for diagnosis, treatment, and further investigation.

The SMAD4 gene, also known as the MAD homolog 4 (Drosophila) gene or the Mothers against decapentaplegic homolog 4 gene, is one of the genes that are extensively cataloged in various gene and variant databases. SMAD4 is located on chromosome 18q21.1 and provides instructions for making a protein that plays a vital role in the regulation of transcription factors.

Several hereditary disorders and diseases have been associated with mutations in the SMAD4 gene. For instance, variants in SMAD4 are linked to Myhre syndrome, which is a rare genetic disorder characterized by intellectual disability, growth delays, skeletal abnormalities, and other developmental abnormalities. Howe and colleagues reported the first case of Myhre syndrome caused by a novel SMAD4 mutation in 2012.

In addition to Myhre syndrome, mutations in SMAD4 have been found to cause other health conditions, such as hereditary hemorrhagic telangiectasia (HHT), Juvenile polyposis syndrome (JPS), and a form of hereditary mixed polyposis syndrome. SMAD4 mutations can also lead to an increased risk of certain cancers, including colorectal cancer, pancreatic cancer, and cholangiocarcinoma.

To better understand these diseases and the genetic changes associated with them, various gene and variant databases provide detailed information on SMAD4 and its variants. Some notable databases include OMIM (Online Mendelian Inheritance in Man), Genes and Diseases, PubMed, and Ahmed’s Catalog of Human Variation.

Through these databases, researchers and clinicians can access information about the SMAD4 gene, its variants, and their clinical significance. These databases provide information on the specific genetic changes observed in patients, the frequency of these changes in certain populations, and the associated clinical features.

Gene and variant databases also play a crucial role in genetic testing. Researchers and clinicians can use these databases to identify the specific SMAD4 variants that should be tested in patients suspected of having SMAD4-related disorders. They can also use the databases to compare the observed variants in patients with the known variants reported in the literature and databases, aiding in the accurate diagnosis of these conditions.

In summary, gene and variant databases provide a wealth of information regarding specific genes like SMAD4 and their variants. These databases offer researchers, clinicians, and patients access to scientific articles, registry information, and other resources related to SMAD4 and its association with various diseases. Proper utilization of these databases is essential in advancing our understanding of SMAD4-related disorders and improving patient care.

References

  • Ringold J, Howe JR. Genetic testing for hereditary polyposis syndromes and other inherited colorectal cancer syndromes: a primer for clinicians. Patients with specific genetic changes in the SMAD4 gene are more likely to develop a particular syndrome called juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, which affects the blood vessels and causes multiple polyps in the large intestine. Pubmed. 2017 Mar;70-77.

  • Somatic changes in the SMAD4 gene have been associated with cholangiocarcinoma and other cancers. How these changes affect the function of the SMAD4 protein and the transcription factor complex it binds to are subjects of ongoing research.

  • Certain changes in the SMAD4 gene have been found in individuals with hereditary polyposis syndromes, such as juvenile polyposis and familial adenomatous polyposis. These changes can be detected through genetic testing and are useful for identifying individuals at higher risk for developing colorectal cancer and other associated conditions. Patients with specific changes in the SMAD4 gene are also more likely to develop hereditary hemorrhagic telangiectasia, a condition characterized by abnormal blood vessels in various parts of the body.

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