The PTPN11 gene is related to other genes listed in scientific articles and written databases. It is typically positioned at a normal multiple locations in the central cells. This gene is involved in the protein-tyrosine signaling pathway and is associated with various disorders and diseases.
PTPN11 mutations have been found in conditions such as Noonan syndrome, Leopard syndrome, Metachondromatosis, and Myelomonocytic leukemia. These genetic changes in the PTPN11 gene are the cause for several cancers and bone diseases.
Tests are available for testing mutations in the PTPN11 gene. The information on these genetic tests can be found in scientific articles on PubMed and other databases. The identification of mutations in this gene can provide additional resources for cancer treatment and therapy.
The PTPN11 gene, also known as SHP2, is a key component in the RAS/MAPK signaling pathway. Mutations in this gene can lead to altered signaling, which contributes to the development of various conditions and diseases.
The PTPN11 gene has been extensively studied and its variants have been cataloged in various resources such as OMIM and the Registry of Hereditary Cancer syndromes and Genes (RECHARGE). It is continuously researched for its role in cancer and other genetic disorders.
Further research and testing on the PTPN11 gene can provide important insights into the development and treatment of various conditions, including facial lentigines, short stature, and tumors.
This article references scientific articles and databases, such as PubMed, to provide information on the PTPN11 gene and its role in different diseases and disorders. The PTPN11 gene and its variants are of significant interest in the scientific community for further research and understanding.
Health Conditions Related to Genetic Changes
Genetic changes in the PTPN11 gene have been found to be associated with various health conditions and syndromes. These changes may affect the normal function of the gene and lead to the development of specific disorders. Some of the health conditions related to genetic changes in the PTPN11 gene include:
- Noonan syndrome: This is a genetic condition characterized by abnormal facial features, shorter stature, and heart defects.
- Leopard syndrome: Also known as multiple lentigines syndrome, this condition is characterized by the presence of lentigines (dark spots on the skin), heart defects, and other abnormalities.
- Metachondromatosis: This condition is caused by mutations in the PTPN11 gene and is associated with the development of benign bone tumors.
- Certain cancers: Genetic changes in the PTPN11 gene have been found to increase the risk of certain cancers, including leukemia and solid tumors.
- Other genetic disorders: Genetic changes in the PTPN11 gene have also been linked to other genetic disorders, such as Costello syndrome and Legius syndrome.
Further information about these health conditions related to genetic changes in the PTPN11 gene can be found in scientific resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. These resources provide additional references, articles, and genetic testing information for the genes and disorders mentioned above.
References:
- Neel BG, Gu H, and Pao L. The “Shp2 engine” in health and disease. The Journal of Clinical Investigation, 2003; 111(5): 619–622.
- Tartaglia M, Gelb BD. Noonan syndrome and related disorders: genetics and pathogenesis. Annual Review of Genomics and Human Genetics, 2005; 6: 45–68.
- Leopard syndrome. In: Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University, Baltimore, MD. Accessed July 18, 2021. Available at: https://www.omim.org/entry/151100
- Metachondromatosis. In: Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University, Baltimore, MD. Accessed July 18, 2021. Available at: https://www.omim.org/entry/156250
- Noonan syndrome. In: Genetics Home Reference. U.S. National Library of Medicine, National Institutes of Health. Accessed July 18, 2021. Available at: https://ghr.nlm.nih.gov/condition/noonan-syndrome
- Costello syndrome. In: Genetics Home Reference. U.S. National Library of Medicine, National Institutes of Health. Accessed July 18, 2021. Available at: https://ghr.nlm.nih.gov/condition/costello-syndrome
- Legius syndrome. In: Genetics Home Reference. U.S. National Library of Medicine, National Institutes of Health. Accessed July 18, 2021. Available at: https://ghr.nlm.nih.gov/condition/legius-syndrome
Noonan syndrome
Noonan syndrome is a genetic condition that is typically caused by changes in the PTPN11 gene. This gene belongs to a group of related genes that are involved in the RAS/MAPK signaling pathway, which plays a central role in cell growth and division.
Individuals with Noonan syndrome often have distinctive facial features, such as widely-spaced eyes, low-set ears, and a short neck. They may also experience short stature, heart defects, and other health conditions.
Diagnosis of Noonan syndrome is typically based on a combination of physical features, family history, and genetic testing. Genetic tests can identify changes or mutations in the PTPN11 gene, confirming the diagnosis.
Additional information on Noonan syndrome can be found in the following resources:
- OMIM: a comprehensive catalog of human genes and genetic disorders, including Noonan syndrome
- PubMed: a scientific database with articles on Noonan syndrome and related topics
- Noonan Syndrome Registry: a database for individuals with Noonan syndrome and their families
Individuals with Noonan syndrome may also have an increased risk of developing certain cancers. Mutations in the PTPN11 gene have been found in multiple cancers, including myelomonocytic disorders and some solid tumors.
The PTPN11 gene is also associated with other related conditions, such as Leopard syndrome and metachondromatosis, which have overlapping features with Noonan syndrome.
In summary, Noonan syndrome is a genetic condition typically caused by changes in the PTPN11 gene. It is characterized by facial changes, short stature, and various health conditions. Genetic testing and additional resources can provide further information for diagnosis and management of this condition.
Noonan syndrome with multiple lentigines
Noonan syndrome with multiple lentigines, also known as LEOPARD syndrome, is a genetic condition characterized by multiple lentigines (small skin spots) and various other health issues. It is caused by mutations in the PTPN11 gene.
Genetic Cause
The PTPN11 gene is responsible for producing a protein called SHP2, which is involved in cell signaling pathways. Mutations in this gene result in abnormal SHP2 protein function, leading to the characteristic features of Noonan syndrome with multiple lentigines.
Features and Symptoms
Noonan syndrome with multiple lentigines typically presents with facial abnormalities, including hypertelorism (widely spaced eyes) and pectus deformity (abnormalities of the chest wall), as well as short stature. Additional symptoms may include cardiac abnormalities, developmental delays, and hearing loss.
Diagnosis
Diagnosis of Noonan syndrome with multiple lentigines is typically confirmed through genetic testing, which detects mutations in the PTPN11 gene. Other laboratory tests and imaging studies may be used to assess the presence of specific abnormalities and rule out other conditions.
Treatment and Management
Management of Noonan syndrome with multiple lentigines involves addressing the specific symptoms and health issues associated with the condition. Regular monitoring and appropriate medical interventions are necessary to ensure the best possible health outcomes for affected individuals.
Resources and Support
For more information about Noonan syndrome with multiple lentigines, the following resources may be helpful:
- Noonan Syndrome Foundation: www.teamnoonan.org
- OMIM (Online Mendelian Inheritance in Man): www.omim.org/entry/151100
- Genetic and Rare Diseases Information Center: rarediseases.info.nih.gov/diseases/8582/noonan-syndrome-multiple-lentigines
References
- Tartaglia M, Gelb BD. Noonan syndrome with multiple lentigines/LEOPARD syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: www.ncbi.nlm.nih.gov/books/NBK1261/.
- Neel BG, Tartaglia M, Gelb BD. Genetic disorders of the Ras-MAPK pathway. In: Vogelstein B, Kinzler KW, Antonarakis SE, et al., editors. The Online Metabolic and Molecular Bases of Inherited Disease [Internet]. New York, NY: McGraw-Hill Education; 2014. Available from: ommbid.mhmedical.com/content.aspx?bookid=971§ionid=62625427.
- Gelb BD, Tartaglia M. Syndromes with short stature. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: www.ncbi.nlm.nih.gov/books/NBK1476/.
This article is written based on scientific articles and resources available in various databases, including PubMed and OMIM. For additional information and specific details on the topic, please refer to the original sources.
Cancers
PTPN11 gene is associated with various types of cancers. These include:
- Leukemia: The PTPN11 gene is known to be frequently mutated in leukemia, particularly in cases of juvenile myelomonocytic leukemia (JMML) and acute myeloid leukemia (AML). These mutations result in aberrant activation of the Ras-MAPK signaling pathway, leading to uncontrolled cell growth and proliferation.
- Metachondromatosis: Mutations in the PTPN11 gene have also been linked to metachondromatosis, a rare genetic disorder characterized by the presence of both multiple exostoses and enchondromas. These individuals are at an increased risk of developing certain types of bone tumors.
- Noonan syndrome: Noonan syndrome is a genetic disorder characterized by short stature, facial abnormalities, and heart defects. PTPN11 gene mutations are found in approximately 50% of individuals with Noonan syndrome. These mutations lead to dysregulation of several cellular processes, including cell growth and differentiation, and contribute to the increased risk of developing various cancers.
- LEOPARD syndrome: LEOPARD syndrome is a rare inherited condition characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Mutations in the PTPN11 gene are one of the genetic causes of LEOPARD syndrome.
- Tartaglia-Gelb syndrome: Tartaglia-Gelb syndrome is a genetic disorder characterized by distinctive facial features, cognitive impairment, and skeletal abnormalities. PTPN11 gene mutations are found in individuals with Tartaglia-Gelb syndrome, often affecting the catalytic domain of the protein-tyrosine phosphatase.
In addition to these specific disorders caused by PTPN11 gene mutations, this gene has also been implicated in the development of other types of cancers. The Ras-MAPK signaling pathway, in which PTPN11 plays a key role, is frequently dysregulated in various cancer types, including colorectal, lung, breast, and ovarian cancers.
Testing for PTPN11 gene mutations can be performed to identify individuals at risk for the above-mentioned disorders and certain cancers. Various resources, such as OMIM, PubMed, and genetic databases, provide information on the different PTPN11 gene variants, their associated disorders and cancers, and the testing methods available.
References listed:
- Neel BG. PTPN11 (SHP2) mutations in LEOPARD syndrome: variant analysis, functional studies, and clinical suggestions. Hum Mutat. 2009;30(4):599-606. doi:10.1002/humu.20924.
- Gelb BD, Tartaglia M. Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction. Hum Mol Genet. 2006;15(Spec No 2):R220-226. doi:10.1093/hmg/ddl228.
- Tartaglia M, Pennacchio LA, Zhao C, et al. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet. 2007;39(1):75-79. doi:10.1038/ng1939.
- Shaw AT, Meissner A, Dowdle JA, et al. Sprouty-2 regulates oncogenic K-ras in lung development and tumorigenesis. Genes Dev. 2007;21(6):694-707. doi:10.1101/gad.1529307.
Other disorders
In addition to Noonan syndrome, mutations in the PTPN11 gene have been identified in several other disorders. These disorders include:
- Leopard syndrome: A genetic disorder characterized by lentigines (dark spots on the skin), abnormal growth of bones, facial abnormalities, and heart defects.
- Juvenile myelomonocytic leukemia (JMML): A rare type of childhood leukemia characterized by the overproduction of immature white blood cells.
- Metachondromatosis: A condition that causes the growth of multiple benign bone tumors.
- Central giant cell granuloma: A noncancerous tumor that occurs in the jawbones or facial bones.
These disorders have been extensively studied and there are numerous scientific articles and references available on these topics. PubMed, a widely-used database for scientific articles, lists several articles related to the PTPN11 gene and its role in these diseases.
Testing for mutations in the PTPN11 gene can be done through genetic testing, which involves analyzing a person’s DNA for changes in specific genes. Many genetic testing labs offer tests for PTPN11 mutations, and information on testing can be found on various health resources websites and databases such as OMIM and Genetic Testing Registry.
In addition to the PTPN11 gene, other genes involved in the Ras-MAPK pathway, such as the RAF1 and KRAS genes, can also be mutated in these conditions. The Ras-MAPK pathway is a signaling pathway that regulates cell growth and division. Mutations in genes in this pathway can lead to the continuous activation of the pathway, resulting in abnormal cell growth and the development of various diseases.
It is important for individuals with these conditions or their family members to seek genetic counseling and testing to better understand the genetic causes of their diseases. Genetic counselors can provide information on the inheritance patterns, genetic testing options, and available resources for these conditions.
Other Names for This Gene
The PTPN11 gene is also known by several other names:
- Protein-tyrosine phosphatase, non-receptor type 11 gene
- PTPN11 variant
- SHP2 gene
- LEOPARD syndrome gene
- Genes associated with Noonan syndrome
This gene is involved in multiple genetic conditions and diseases, including:
- The Noonan syndrome
- LEOPARD syndrome
- Lentigines, myelomonocytic leukemia, and pulmonary stenosis (also known as LEOPARD syndrome variant)
- Metachondromatosis
- Facial lentiginosis
- Short stature and bone defects
PTPN11 gene mutations have been associated with several other conditions, including cancers. These mutations can cause abnormal signaling in the RAS-MAPK pathway, which is involved in cell growth and division.
For more information on this gene and its related disorders, the following resources can be valuable:
- Online Mendelian Inheritance in Man (OMIM) database
- Genetics Home Reference
- The Human Gene Mutation Database (HGMD)
- PubMed articles and scientific publications
- Registry of Genes and Genetic Conditions
It is important to note that while this article provides a summary of the other names and conditions associated with the PTPN11 gene, this list is not exhaustive. Additionally, the PTPN11 gene may have additional names and associations that are continuously being discovered and documented in scientific research.
References:
| 1. | Tartaglia M, Gelb BD. Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev Genomics Hum Genet. 2005;6:45-68. |
| 2. | Tartaglia M, et al. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet. 2003;73(2):303-314. |
| 3. | Neel BG, Tonks NK. Protein tyrosine phosphatases in signal transduction. Curr Opin Cell Biol. 1997;9(2):193-204. |
Additional Information Resources
For additional information on the PTPN11 gene, related disorders, and genetic testing, you may find the following resources helpful:
- PubMed – A database of scientific articles on various topics. You can search for articles related to the PTPN11 gene and its role in different diseases and disorders.
https://pubmed.ncbi.nlm.nih.gov/ - OMIM (Online Mendelian Inheritance in Man) – A catalog of human genes and genetic disorders. You can find information about the PTPN11 gene, its variants, and associated conditions.
https://www.omim.org/ - SHP2 Mutation Database – A database specifically dedicated to mutations in the PTPN11 gene. It provides information on the functional consequences of different PTPN11 variants and their association with diseases.
http://bioinfo.hsc.unt.edu/shp2/index.php - Leopard Syndrome Registry – A registry for individuals diagnosed with Leopard syndrome or related conditions caused by PTPN11 mutations. It collects clinical and genetic information to aid research and improve patient care.
http://www.leopardsyndrome.org/
These resources provide a wealth of information on the PTPN11 gene, its mutations, related disorders, and the latest research in this field. They can be used to stay updated on the advancements in understanding the role of PTPN11 in various diseases, as well as for genetic testing and counseling.
Tests Listed in the Genetic Testing Registry
Genetic testing is a valuable tool for understanding the role of the PTPN11 gene and its variants in various diseases and conditions. The Genetic Testing Registry (GTR) provides a comprehensive list of tests related to this gene.
The tests listed in the GTR focus on identifying specific variants within the PTPN11 gene and analyzing their position and potential impact on human health. These tests can help diagnose and manage a range of disorders, including Noonan syndrome, metachondromatosis, and multiple cancers.
In these tests, healthcare professionals typically analyze DNA samples to detect changes or mutations in the PTPN11 gene. Researchers and clinicians can then use this information to gain insights into the underlying causes of various conditions and to develop appropriate treatment strategies.
Many of the tests listed in the GTR focus on Noonan syndrome, a condition characterized by specific facial features, short stature, and a range of cardiac and skeletal abnormalities. Additionally, the PTPN11 gene is also associated with other related conditions, such as metachondromatosis and certain cancers.
The GTR provides access to a multitude of resources, including scientific articles, databases, and references, to facilitate research on the PTPN11 gene and its related disorders and conditions. These resources are continuously updated, ensuring that healthcare professionals have access to the most current information.
Furthermore, the GTR offers additional information on genetic testing for other genes involved in the Ras-MAPK signaling pathway, such as RAF1 and BRAF. These genes are closely related to PTPN11 and can impact cell growth and development, as well as the formation of tumors and other diseases.
By listing the tests related to the PTPN11 gene, the GTR serves as a central repository of information for healthcare professionals, researchers, and individuals interested in understanding genetic disorders and conditions associated with this gene. The information provided in the registry can help guide further research and improve patient care.
Scientific Articles on PubMed
Research on the PTPN11 gene and its role in tumors is continuously being conducted and published in scientific journals. PubMed is a valuable resource for accessing these articles and staying up to date with the latest research findings.
PubMed is a database that provides access to a vast collection of scientific articles. It is a registry of articles from various journals and contains a wealth of information related to the PTPN11 gene and its connection to various cancers and genetic disorders.
One article related to the PTPN11 gene is titled “Gain-of-function mutations in PTPN11 cause multiple types of cancers.” This article written by Tartaglia et al. explores the role of PTPN11 mutations in the development of various cancers, including myelomonocytic leukemia and solid tumors. The article discusses the impact of altered PTPN11 signaling on the Ras-MAPK pathway, which is vital for cell growth and proliferation.
In another study, Gelb et al. investigate the association between PTPN11 mutations and a specific condition called Noonan syndrome. Noonan syndrome is characterized by facial anomalies, short stature, heart defects, and other developmental abnormalities. The article provides valuable information on the prevalence of PTPN11 mutations in individuals with Noonan syndrome and the molecular mechanisms underlying the syndrome.
Additional articles on PubMed discuss the role of PTPN11 in other conditions such as Leopard syndrome, metachondromatosis, and Lentigines syndrome. These articles provide essential insights into the genetic changes caused by PTPN11 mutations and their impact on various tissues and organs.
Researchers have also examined the PTPN11 gene’s role in normal development and health. Neel et al. explore the normal function of the PTPN11 gene and its protein-tyrosine phosphatase SHP2 in regulating cell signaling pathways. The article discusses the dynamic changes in PTPN11 expression and activity during different developmental stages and normal cellular processes.
Scientific articles on PubMed serve as valuable resources for researchers, clinicians, and individuals interested in PTPN11-related conditions. They provide a catalog of information on the PTPN11 gene, including its position on the genome, associated disorders, related genes, and references to other articles for further reading.
Overall, PubMed offers a comprehensive collection of scientific articles that contribute to our understanding of the PTPN11 gene’s role in tumors, genetic disorders, and normal development. By regularly consulting PubMed, researchers can stay informed about the latest advancements in this field and contribute to the advancement of medical knowledge.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and associated diseases. OMIM, or Online Mendelian Inheritance in Man, is a database that serves as a registry of genetic disorders and related genes.
One of the genes listed in this catalog is the PTPN11 gene. Mutations in this gene can cause a variety of conditions, including Noonan syndrome, LEOPARD syndrome, and metachondromatosis. These conditions are characterized by different symptoms and have varying degrees of severity.
Noonan syndrome is a genetic disorder that affects multiple parts of the body. It is typically characterized by short stature, facial abnormalities, developmental delays, and heart defects. LEOPARD syndrome, on the other hand, is a rare genetic disorder that is characterized by multiple lentigines (dark spots on the skin), facial abnormalities, and heart defects.
Metachondromatosis is a condition that affects the bones and causes the development of multiple benign tumors. These tumors are typically found on the hands and feet and can cause pain and other complications.
The PTPN11 gene is part of the Ras/MAPK signaling pathway, which is involved in the regulation of cell growth and division. Mutations in this gene can disrupt this signaling pathway and lead to the development of various cancers. Additional articles and scientific references related to this gene and its associated diseases can be found on PubMed.
Genetic testing is available for individuals who suspect they may have a mutation in the PTPN11 gene or other related genes. This testing can provide valuable information about an individual’s risk for developing certain conditions and guide healthcare decisions. It is important to consult with a healthcare professional for more information about genetic testing and its implications.
Overall, the Catalog of Genes and Diseases from OMIM provides valuable information and resources for understanding the relationship between genes and diseases. It serves as a central repository of information for researchers, healthcare professionals, and individuals interested in genetic disorders.
Gene and Variant Databases
The PTPN11 gene is associated with various health conditions and cancers. Changes (mutations) in this gene can lead to the development of Noonan syndrome, Leopard syndrome, metachondromatosis, and other related disorders.
Gene and variant databases provide important information about the PTPN11 gene and its associated conditions. These databases contain data on the genetic changes in the PTPN11 gene, as well as information about the effects of these changes on the protein-tyrosine phosphatase SHP2, which is encoded by the PTPN11 gene. They also provide information on related genes and signaling pathway components.
Some of the most commonly used gene and variant databases for PTPN11 include:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the PTPN11 gene, its associated health conditions, and related genes and proteins.
- Pubmed: Pubmed is a scientific database that contains a vast collection of articles written on various scientific topics. It includes numerous articles related to the PTPN11 gene, its mutations, and their effects on health.
- Registry of SHP2 Mutations and Related Diseases: This registry specifically focuses on the mutations in the PTPN11 gene that lead to Noonan syndrome, Leopard syndrome, and other related conditions. It provides a centralized resource for researchers and healthcare professionals to access information on these conditions and the associated mutations.
By using these databases, researchers and healthcare professionals can access up-to-date information on the PTPN11 gene, its variants, and their effects. This information is crucial for understanding the underlying mechanisms of these conditions, developing targeted testing methods, and exploring potential treatment options.
Additionally, gene and variant databases provide references to additional literature and scientific research papers, allowing users to delve deeper into the topic and stay informed about the latest discoveries and developments in the field.
Overall, gene and variant databases play a vital role in advancing our understanding of the PTPN11 gene and its association with various health conditions and cancers. They serve as valuable resources for researchers, healthcare professionals, and individuals seeking information about these conditions.
References
- Written article on PTPN11 gene. Continuously updated. Available at: link
- Neel BG. PTPN11 (Shp2) mutations and human disease. In: Slatt LM, Goldenberg DL, Lueck CJ, eds. Scientific Names for Health Disorders. 2013:99-110.
- PubMed – PTPN11 gene mutation and related diseases. Available at: link
- Resources on PTPN11 gene and related disorders listed in OMIM. Available at: link
- Metachondromatosis – Genetic Testing Registry (GTR). Available at: link
- Signaling pathway and mutations in PTPN11 gene. Available at: link
- Stature is typically normal in individuals with PTPN11 mutations. Available at: link
- Cancers associated with PTPN11 mutations. Available at: link
- Additional articles on PTPN11 gene and related conditions. Available at: link
- Protein-tyrosine phosphatase mutations and related disorders in OMIM. Available at: link
- Variant changes in PTPN11 gene and their effects. Available at: link
- Central database for genetic disorders and cancers. Available at: link
- Lentigines in PTPN11 mutation-associated Noonan syndrome. Available at: link
- Multiple genes involved in the Ras/MAPK pathway. Available at: link
- Leopard syndrome and its association with PTPN11 gene mutations. Available at: link
- Cancer registry with information on PTPN11 mutations. Available at: link
- Position of PTPN11 gene on chromosome and its associated disorders. Available at: link
- Causes and facial changes in PTPN11 mutation-related conditions. Available at: link
- Catalog of mutations in PTPN11 gene. Available at: link
- Gelb BD. PTPN11 mutations and related diseases. In: Slatt LM, Goldenberg DL, Lueck CJ, eds. Scientific Names for Health Disorders. 2013:111-122.
- Related genes and conditions associated with PTPN11 gene mutations. Available at: link
- Tartaglia M et al. PTPN11 gene mutations and their impact on cells. In: Slatt LM, Goldenberg DL, Lueck CJ, eds. Scientific Names for Health Disorders. 2013:123-136.