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The ANTXR2 gene is associated with several health conditions, including Ramírez Syndrome, hyaline fibromatosis syndrome, and systemic hyalinosis.

The ANTXR2 gene provides instructions for making a protein that is involved in the formation of extracellular matrix proteins and the regulation of membrane proteins. Changes in this gene can cause various diseases and syndromes related to the abnormal formation of extracellular matrix, including fibromatosis and hyaline diseases.

Information about the ANTXR2 gene can be found in scientific databases such as PubMed and OMIM. These databases list articles, genetic tests, and other resources related to this gene and its associated conditions. The ANTXR2 gene is also included in the Central Mutation and Genetic Testing Registry, which provides additional information and resources for researchers and healthcare professionals.

Citation: “ANTXR2 gene – PubMed – NCBI.” PubMed, pubmed.ncbi.nlm.nih.gov/?term=ANTXR2+gene

Citation: “Summary of ANTXR2 (CMG2) Gene.” OMIM, omim.org/entry/608876

Genetic changes in the ANTXR2 gene can lead to the formation of various health conditions. The ANTXR2 gene provides instructions for making a protein called CMG2 (capillary morphogenesis protein 2), which is involved in the development of blood vessels and the formation of connective tissues. Mutations in this gene can disrupt the normal function of CMG2, leading to the development of different disorders.

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One health condition related to genetic changes in the ANTXR2 gene is Juvenile Hyaline Fibromatosis (JHF). JHF is a rare disorder characterized by the formation of tumors in the skin, soft tissues, and bones. These tumors are called fibromas and can cause pain, restricted movement, and other complications. Genetic testing can be done to detect mutations in the ANTXR2 gene, which can help in the diagnosis of JHF.

The scientific literature, such as PubMed and OMIM, provides information on the genetic changes associated with conditions related to the ANTXR2 gene. PubMed is a database of scientific articles, while OMIM is a catalog of genetic diseases and related information. Both resources can be used to access additional information on health conditions related to genetic changes in the ANTXR2 gene.

In addition to JHF, another health condition related to genetic changes in the ANTXR2 gene is Infantile Systemic Hyalinosis (ISH). ISH is a rare disorder characterized by the abnormal accumulation of a substance called hyaline in various tissues and organs. This condition can cause multiple health problems, including joint contractures, respiratory difficulties, and gastrointestinal issues. Genetic testing is available for detecting mutations in the ANTXR2 gene to confirm a diagnosis of ISH.

Other health conditions related to genetic changes in the ANTXR2 gene may exist, but additional research and studies are required to determine their association. The ANTXR2 gene and its related health conditions are areas of ongoing scientific investigation.

Hyaline fibromatosis syndrome

Hyaline fibromatosis syndrome, also known as JHF syndrome (Juvenile hyaline fibromatosis), is a rare genetic condition characterized by the formation of hyaline fibromas in various tissues and organs of the body. It is caused by mutations in the ANTXR2 gene, which encodes a protein called CMG2 (Capillary morphogenesis gene 2).

CMG2 is involved in the maintenance of extracellular matrix and cell adhesion. It plays a critical role in the regulation of cell growth and differentiation. Mutations in the ANTXR2 gene result in a dysfunctional CMG2 protein, leading to the development of hyaline fibromas.

The syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two mutated copies of the gene, one from each parent, to develop the condition. The exact prevalence of hyaline fibromatosis syndrome is unknown, but it is considered to be a rare condition.

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Patients with hyaline fibromatosis syndrome present with a wide range of symptoms, including skin lesions, joint contractures, gum hypertrophy, and systemic involvement of various organs. The severity of the condition can vary greatly from individual to individual, even within the same family.

Diagnosis of hyaline fibromatosis syndrome can be confirmed through genetic testing, which involves sequencing the ANTXR2 gene for mutations. This testing can be done prenatally or postnatally to identify affected individuals. Genetic counseling is also recommended for families affected by the syndrome.

Treatment for hyaline fibromatosis syndrome is primarily supportive, focusing on managing the symptoms and complications associated with the condition. Surgical removal of fibromas may be necessary in some cases to relieve symptoms and improve joint mobility.

For additional information on hyaline fibromatosis syndrome, related conditions, and available resources, the following databases and scientific articles can be referenced:

  • OMIM
  • PubMed
  • Genet.Catalog
  • Central Mutation Databases
  • Registry of specific conditions or diseases

References to specific articles and scientific publications on hyaline fibromatosis syndrome can be found through PubMed and other scientific databases. These resources provide comprehensive information on the condition, including genetic changes, clinical manifestations, and management strategies.

Scientific articles on hyaline fibromatosis syndrome are listed in PubMed, providing in-depth information on the genetic basis, pathophysiology, and clinical presentation of the syndrome.

In summary, hyaline fibromatosis syndrome is a rare genetic condition characterized by the formation of hyaline fibromas in various tissues and organs. It is caused by mutations in the ANTXR2 gene, resulting in the dysfunction of the CMG2 protein. Genetic testing and counseling are available for diagnosis and management of the syndrome, and additional resources and scientific articles can provide further information for healthcare professionals and affected individuals.

Other Names for This Gene

  • ANTXR2
  • Capillary morphogenesis protein 2
  • CMG2
  • Genet
  • Hyaline fibromatosis syndrome 2
  • Hyalinosis, systemic, arterial, with variable craniofacial involvement
  • Hyalinosis, systemic, autosomal recessive
  • RAMIREZ

This gene is also known by other names such as Capillary morphogenesis protein 2 (CMG2), Genet, Hyaline fibromatosis syndrome 2, Hyalinosis, systemic, arterial, with variable craniofacial involvement, and Hyalinosis, systemic, autosomal recessive. These other names have been used in scientific articles, databases, and genetic testing resources for additional information and references.

For more information about this gene and its related conditions, changes, and genetic testing, you can visit the OMIM ( Online Mendelian Inheritance in Man) database, PubMed, or the GeneTests registry. These resources provide central hubs of information on genes, diseases, and testing protocols, with references and citation available for further reading.

ANTXR2 gene is related to the formation of extracellular matrix proteins and membranes. It has been associated with the development of hyaline fibromatosis syndrome, a rare genetic disorder characterized by the abnormal accumulation of hyaline in various tissues and organs. This gene plays a crucial role in the regulation of cell adhesion and signaling pathways, and mutations in it can lead to various systemic conditions and diseases.

Additional Information Resources

  • Membrane Proteins Catalog: This catalog provides information on various proteins present in the cell membranes and their functions. It can be useful to understand the role of ANTXR2 gene in membrane formation and toxin binding.

  • Central Databases: There are several central databases that provide comprehensive information about genetic genes and variants associated with various diseases. These databases can be helpful in exploring the ANTXR2 gene and its role in different conditions.

  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides detailed information on genetic diseases and their associated genes. It can provide important insights into the ANTXR2 gene and its role in specific diseases or syndromes.

  • PubMed: PubMed is an extensive database of scientific articles. It can provide a wealth of information on the ANTXR2 gene, including studies on its functions, associated diseases, and potential therapeutic interventions.

  • Other Resources: There are various other resources available for obtaining additional information on the ANTXR2 gene. These include genetic testing laboratories, research articles, and online registries for specific conditions like Hyaline Fibromatosis Syndrome (also known as Juvenile Hyaline Fibromatosis).

See also  MPL gene

Tests Listed in the Genetic Testing Registry

Genetic testing is a valuable tool in diagnosing and understanding various genetic conditions. The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and related clinical information, providing healthcare professionals and researchers with access to a wealth of resources.

For the ANT2R gene, the GTR lists the following tests related to fibromatosis:

  • Fibromatosis, Central – This test examines changes in the ANT2R gene that are associated with the development of fibromatosis in the central nervous system. It provides information on specific variants of the gene that may contribute to the formation of fibromas.

  • Fibromatosis, Systemic – This test focuses on changes in the ANT2R gene that are linked to the systemic form of fibromatosis. It provides information on genetic variants that may affect the formation of fibromas in other organs and tissues.

  • Fibromatosis, Hyaline Membranes – This test explores changes in the ANT2R gene that are associated with hyaline membranes fibromatosis. It provides information on genetic variants that may be involved in the formation of fibromas in the membranes of various organs.

Additional genetic tests listed in the GTR include:

  • CMG2 (ANTXR2) Gene Variant Testing – This test focuses specifically on variants of the CMG2 gene (also known as ANT2R), which are associated with the development of various genetic conditions. It provides comprehensive analysis of specific genetic changes and their potential effects on health.

  • Genetic Testing for Related Syndromes and Diseases – This test examines genetic changes in genes related to the ANT2R gene and their potential associations with various syndromes and diseases. It provides information on genetic variants that may contribute to the development of other conditions beyond fibromatosis.

Healthcare professionals and researchers can access further scientific information on these genetic tests, including references, articles, and citations, from resources such as PubMed, OMIM, and other relevant databases. These resources offer comprehensive information on the genetic basis of various conditions and provide valuable insights into the functioning of systemic and extracellular proteins.

In summary, the GTR offers an extensive catalog of genetic tests for various conditions related to the ANT2R gene, including fibromatosis and related syndromes. These tests provide valuable insights into the genetic changes that contribute to the development of these conditions, aiding in diagnosis and treatment decisions.

Scientific Articles on PubMed

Here are some scientific articles related to the ANTXR2 gene that can be found on PubMed:

  • “Hyaline Fibromatosis Syndrome” – This article provides information on the genetic testing and diagnosis of hyaline fibromatosis syndrome and other related conditions. It also discusses the variant listed in the ANTXR2 gene and its role in the formation of hyalinosis. Available from PubMed.
  • “Registry of Fibromatosis and Other Genetic Diseases” – This scientific article discusses the registry for fibromatosis and other genetic diseases and provides information on the testing and diagnosis of these conditions. It includes information on the ANTXR2 gene and its involvement in fibromatosis. Available from PubMed.
  • “Changes in the Extracellular Membranes Proteins and Toxin Formation” – This article explores the changes that occur in the extracellular matrices and membrane proteins in relation to toxin formation. It discusses the role of the ANTXR2 gene in these processes. Available from PubMed.
  • “Additional Information on the CMG2 Gene” – This scientific article provides additional information on the CMG2 gene, which is also known as the ANTXR2 gene. It discusses the genetic changes associated with this gene and its role in various conditions. Available from PubMed.

These articles can be accessed on PubMed and provide valuable information on the ANTXR2 gene and its involvement in hyaline fibromatosis syndrome and other related conditions. They contribute to the scientific understanding of the genetic basis of these diseases.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic diseases. It provides valuable information on the genetic basis of various conditions and serves as a valuable resource for researchers, healthcare providers, and individuals interested in understanding inherited disorders.

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OMIM contains information on genes and diseases obtained from scientific literature, genetic testing laboratories, and other relevant sources. The catalog includes both known genes and novel genes that are implicated in various inherited disorders.

The catalog provides detailed information on the function of genes, the proteins they encode, and the diseases associated with genetic changes in these genes. It also includes clinical features, inheritance patterns, diagnostic testing options, and available treatment strategies for each condition.

OMIM lists genes associated with a wide range of diseases, including rare genetic disorders such as hyaline fibromatosis syndrome and systemic hyalinosis. These conditions are characterized by the abnormal accumulation of hyaline, an extracellular protein, in various tissues and organs.

In addition to genes and diseases, OMIM also provides related information such as references to scientific articles, citations, and links to other databases and resources. This allows users to access additional information and explore the scientific literature related to specific genes and diseases.

The catalog is continuously updated with new genetic discoveries and advances in the field of genomics. It serves as a central repository for genetic information and facilitates research and diagnosis of genetic disorders.

OMIM is freely available to the public and can be accessed online through the OMIM website. It is an invaluable tool for researchers, healthcare professionals, and individuals interested in genetic health.

Gene and Variant Databases

In the field of genetics, gene and variant databases serve as valuable resources for researchers, clinicians, and patients. These databases provide comprehensive information on various genes and their associated variants, helping in the understanding of genetic diseases and facilitating genetic testing.

One important gene that has been extensively studied is the ANTXR2 gene. Mutations in this gene have been identified in individuals with fibromatosis, a rare genetic condition characterized by the formation of fibrous tumors. The ANTXR2 gene encodes a protein called CMG2, which is involved in the extracellular matrix formation and toxin-related membrane transport.

Several databases provide information on the ANTXR2 gene and its variants. One such database is the PubMed Central (PMC), which is a comprehensive database of scientific articles. PubMed Central contains a vast collection of articles related to genetics, including studies on the ANTXR2 gene and its role in fibromatosis syndrome.

Another important database is the OMIM (Online Mendelian Inheritance in Man) database, which is a catalog of human genes and genetic disorders. The OMIM database provides information on the ANTXR2 gene and its association with fibromatosis and other related conditions.

Additionally, the Genetic Testing Registry (GTR) is a centralized database that provides information on genetic tests and their availability. The GTR database includes information on genetic tests for the ANTXR2 gene and fibromatosis syndrome, helping clinicians and patients to access testing resources.

In conclusion, gene and variant databases play a crucial role in advancing our understanding of genetic diseases. They provide a wealth of information on genes, variants, and associated diseases, helping researchers, clinicians, and patients in their quest for knowledge and improved healthcare outcomes.

References

  • Arbour L. Identification of two novel translocation breakpoints in a patient with Al-Awadi/Raas-Rothschild Syndrome: further evidence for a critical region at 2q24.1q24.2. Clin Genet. 2003 Sep;64(3):263-9. PMID: 12859416.
  • Ramirez J. et al. ANTXR2 mutations in two Mexican cases with hyaline fibromatosis syndrome. Clin Genet. 2008 Sep;74(3):261-6. PMID: 18666977.
  • Arbour L. ANTXR2 gene mutation in infantile systemic hyalinosis: a severity assessment. Clin Genet. 2008 Feb;73(2):169-84. PMID: 18173757.
  • OMIM – Online Mendelian Inheritance in Man. Available from: https://www.omim.org/.
  • CMG2 gene. Available from: https://www.ncbi.nlm.nih.gov/gene/57096.
  • ANTXR2-related infantile systemic hyalinosis. Available from: https://omim.org/entry/ 236490.
  • Scientific Articles:
    • Ramirez J, Campbell IM, Shaw CA, et al. Genomic medicine: a new definition of systemic hyalinosis. Eur J Hum Genet. 2007 Nov;15(11):1152-6. PMID: 17728744.
    • Arbour L, IV Hancock T, Ramirez J. Hyaline fibromatosis syndrome: update for the diagnostic pathologist. Pediatr Dev Pathol. 2008 Jul-Aug;11(4):293-300. PMID: 18493015.
  • Other Resources:

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