The PITX2 gene is also known as “paired-like homeodomain transcription factor 2”. It is a gene that plays a crucial role in the development of various organs and tissues in the body. The gene is located on chromosome 4, and mutations or changes in this gene can lead to a variety of disorders and conditions.

Research on the PITX2 gene has revealed its involvement in several diseases, including Axenfeld-Rieger syndrome, Peters anomaly, and anterior segment dysgenesis. Mutations in this gene are associated with abnormal eye development and other related features.

Genetic testing for changes in the PITX2 gene has become an important diagnostic tool for identifying certain disorders and conditions. These tests can provide valuable information on the presence or absence of specific mutations, aiding in the diagnosis and management of patients.

Scientific articles and databases, such as OMIM and PubMed, provide free access to a wealth of information on the PITX2 gene and its related disorders. These resources offer additional references and references to related articles for further reading and research purposes.

In conclusion, the PITX2 gene is a vital gene in the regulation of transcription and is associated with a variety of conditions and disorders. Understanding the role of this gene could potentially lead to new insights and advancements in the diagnosis and treatment of these conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the PITX2 gene have been associated with several health conditions. The PITX2 gene produces a protein that plays a crucial role in the development of the eye, heart, and other tissues in the body.

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One health condition associated with genetic changes in the PITX2 gene is Axenfeld-Rieger syndrome. This syndrome is characterized by abnormal development of the anterior segment of the eye, which can lead to vision problems and other eye abnormalities. It can also affect the development of other parts of the body.

Another health condition related to changes in the PITX2 gene is Peters anomaly. This condition is characterized by central corneal clouding and other eye abnormalities, which can cause vision loss. It may also affect the development of other parts of the body.

Genetic changes in the PITX2 gene are also associated with dermoid cysts. These cysts are benign growths that can occur in various parts of the body. They are often found on the skin, but can also develop internally, such as in the reproductive organs.

Other health conditions associated with genetic changes in the PITX2 gene include anterior segment dysgenesis, which affects the development of the eye; semina syndrome, which affects the development of the urinary tract and other organs; and various cardiovascular disorders.

Information on health conditions related to genetic changes in the PITX2 gene can be found in scientific articles, genetic databases, and other central resources. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are commonly used resources for finding information on genetic conditions.

Genetic testing can be done to detect changes in the PITX2 gene that may be associated with these conditions. This testing can provide valuable information for diagnosis, prognosis, and treatment.

It is important to note that not all genetic changes in the PITX2 gene lead to health conditions. Some changes may have no effect on health or development.

References to scientific articles and other resources for more information on health conditions related to genetic changes in the PITX2 gene can be found in the catalogs and databases mentioned above. Additional information can also be obtained from healthcare professionals and genetic counselors.

Axenfeld-Rieger syndrome

Axenfeld-Rieger syndrome is a genetic condition characterized by abnormalities in the anterior segment of the eye. It is caused by changes in the PITX2 gene, also known as “paired-like homeodomain transcription factor 2”.

Patients with Axenfeld-Rieger syndrome may have a variety of features, including abnormal development of the iris (the colored part of the eye), dental abnormalities, and an increased risk for glaucoma. In addition, they may also have craniofacial anomalies, cardiac defects, and other anomalies affecting various body systems.

The PITX2 gene is responsible for encoding a protein that plays a role in the regulation of other genes. Changes in this gene can disrupt normal development, leading to the characteristic features of Axenfeld-Rieger syndrome.

To learn more about Axenfeld-Rieger syndrome and the role of the PITX2 gene, relevant scientific articles can be found in databases such as PubMed. These articles provide information on the genetic basis of the condition, as well as its associated features and any additional genetic changes. PubMed also provides references for further reading.

For patients and healthcare professionals seeking more information and resources on Axenfeld-Rieger syndrome, the OMIM (Online Mendelian Inheritance in Man) database is a valuable resource. It provides a comprehensive catalog of genetic disorders and their associated genes, and includes information on the clinical features and genetic changes associated with Axenfeld-Rieger syndrome.

Genetic testing is available for the detection of changes in the PITX2 gene associated with Axenfeld-Rieger syndrome. These tests can be ordered through specialized laboratories or genetic testing companies, and can provide important diagnostic information for individuals suspected of having the condition.

Peters anomaly and dermoid disorders are two related conditions that share features with Axenfeld-Rieger syndrome. These conditions may have similar underlying genetic changes, and their classification and diagnosis can sometimes overlap with Axenfeld-Rieger syndrome.

In conclusion, Axenfeld-Rieger syndrome is a genetic condition characterized by abnormalities in the anterior segment of the eye. It is caused by changes in the PITX2 gene, which plays a crucial role in the transcription regulation of other genes. Genetic testing can be used to confirm the diagnosis, and various resources such as PubMed and OMIM provide further information on this condition and related disorders.

Peters anomaly

Peters anomaly is a rare developmental anomaly characterized by changes in the structure of the front part of the eye. It is a condition that affects the normal development of the eye, resulting in various abnormalities.

Peters anomaly is often associated with other eye disorders such as Axenfeld-Rieger syndrome and dermoid. The exact cause of Peters anomaly is not yet fully understood, but genes play a significant role in its development. Mutations in the PITX2 gene have been found to be associated with the Peters anomaly phenotype.

Scientific articles and studies have provided valuable insights into the genetic basis of Peters anomaly. Additional information on these studies can be found in various scientific journals and databases such as PubMed Central and OMIM.

Peters anomaly is diagnosed based on the clinical features and health history of the patient. Genetic testing may also be performed to identify specific changes or variants in the PITX2 gene or other associated genes.

Various resources are available for genetic testing and counseling for Peters anomaly. These include the OMIM database, the PubMed Central database, and the Catalog of Human Genetic Diseases. These resources provide access to free references and citations for articles and studies on Peters anomaly and related conditions.

In addition to genetic testing, other diagnostic tests may be used to evaluate the extent and severity of the eye abnormalities in Peters anomaly. These may include imaging tests, visual field tests, and anterior segment optical coherence tomography.

Treatment for Peters anomaly depends on the specific features and severity of the condition. It may include surgical intervention, such as corneal transplantation or cataract removal, to improve vision and manage the abnormalities.

In summary, Peters anomaly is a rare eye condition characterized by abnormal changes in the front part of the eye. It is associated with various genetic disorders and is often caused by mutations in the PITX2 gene. Genetic testing and counseling are important for accurate diagnosis and management of Peters anomaly.

Other disorders

PITX2 gene mutations are associated with a variety of disorders beyond Axenfeld-Rieger syndrome. Some of these disorders include:

• Peters anomaly: An eye condition characterized by central corneal opacity and defects in the anterior segment structures.
• Semina syndrome: A rare genetic disorder characterized by anomalies in multiple systems, including the teeth, skin, and genitalia.
• Dermoid cysts: Congenital abnormal growths that appear as benign tumors on the skin and may contain a variety of tissues.

There are additional conditions related to PITX2 gene mutations, but the full extent of their association is still being researched. Scientific articles and databases such as OMIM, PubMed, and other genetic resources provide more information on these disorders.

Tests for PITX2 gene mutations and associated changes can help determine the genetic basis of these conditions. These tests may include genetic sequencing, protein analysis, and transcriptional regulation tests.

For a comprehensive catalog of genes and associated disorders, the HGMD professional database and the NCBI Gene database provide an extensive amount of references and scientific articles.

Other Names for This Gene

• Axenfeld-Rieger syndrome type 1
• Peters anomaly
• Anomaly of anterior chamber of eye
• Semina 1 (SEMA1)
• Anterior segment mesenchyme gene (ASMD)
• ARH DEFECT 7
• RIEG

The PITX2 gene is also known by other names, including Axenfeld-Rieger syndrome type 1, Peters anomaly, Anomaly of anterior chamber of eye, Semina 1 (SEMA1), Anterior segment mesenchyme gene (ASMD), ARH DEFECT 7, and RIEG. These names reflect the various disorders and conditions associated with changes in this gene.

Genetic testing for this gene can be done through various resources, such as databases, genetic testing labs, and registries. These tests can provide information about the amount of changes or variants in the gene and their association with specific disorders.

Scientific articles and citations related to this gene can be found in databases such as PubMed and OMIM. These articles provide further information about the gene, its role in various diseases and conditions, and its regulation and protein transcription.

Additional tests and genetic resources are available for related disorders and conditions. These resources can provide further information and testing options for individuals with these conditions.

References and additional information can be found in the listed resources, including articles, databases, and genetic testing catalog. It is important to consult with a healthcare professional or genetic counselor for specific information and testing options based on individual health and condition.

Additional Information Resources

Here are some additional resources that provide information on the PITX2 gene:

• OMIM – The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the PITX2 gene, including its role in various diseases and disorders. It also lists the associated conditions and provides references to scientific articles related to PITX2.
• PubMed – PubMed is a database of biomedical literature that includes articles on PITX2 and its role in different conditions. This resource can be used to search for specific information and research studies related to PITX2.
• Genetic Testing Registry – The Genetic Testing Registry is a central database that provides information about genetic tests. It includes information about tests for PITX2 gene variants and their associated conditions. Some of these tests may be available free of charge for certain individuals.
• PubMed Central – PubMed Central is a free digital archive that provides full-text articles on biomedical and life sciences. It includes articles related to PITX2 gene regulation, protein function, and changes that occur in various diseases.
• AXENFELD-RIEGER SYNDROME – This article provides an overview of Axenfeld-Rieger Syndrome, a condition associated with PITX2 gene anomalies. It describes the clinical features, genetic basis, and inheritance patterns of this condition.
• Semina HV – This article by Semina HV discusses the transcriptional regulation and function of the PITX2 gene. It provides insights into its role in normal development and the changes that occur in diseases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central resource for information about genetic tests. In the context of the PITX2 gene, the GTR provides a comprehensive list of genetic tests associated with this gene. These tests are aimed at identifying changes or anomalies in the PITX2 gene and their implications for various diseases and conditions.

The GTR catalog includes a wide range of genetic tests that focus on different aspects of the PITX2 gene, including changes in gene transcription, associated diseases and conditions, and additional information about the genetic variants found in this gene. The tests listed in the GTR come from various databases and resources, ensuring a diverse and comprehensive collection of information.

Some of the genetic tests listed in the GTR are specifically designed to detect changes in the PITX2 gene that are linked to conditions such as Peters Syndrome, Axenfeld-Rieger Syndrome, and Semina Syndrome. These tests provide valuable insights into the genetic basis of these conditions and help diagnose patients based on their genetic profile.

In addition to the genetic tests listed in the GTR, the registry also features relevant information about the PITX2 gene and its associated disorders. This information includes scientific articles, free resources such as PubMed and OMIM publications, and databases that offer further details on the regulation and function of the PITX2 gene.

The tests listed in the GTR also cover other genes and proteins related to the PITX2 gene and its associated disorders. This comprehensive approach allows healthcare professionals and researchers to better understand the genetic basis of various conditions and make informed decisions regarding diagnostic and treatment strategies.

For individuals looking to access the tests listed in the GTR, the registry provides a centralized and easily accessible platform with detailed descriptions of each test, including the genes and disorders they are associated with. This information serves as a valuable resource in the field of genetic testing and enables the identification of potential genetic conditions based on the presence of specific variants or changes in the PITX2 gene.

In conclusion, the Genetic Testing Registry plays a pivotal role in providing information about the different tests associated with the PITX2 gene. These tests help diagnose genetic anomalies and associated diseases and provide vital information for researchers and healthcare professionals. The registry’s database of genetic tests, alongside additional resources and scientific articles, serves as a definitive source for understanding the impact of PITX2 gene changes on human health.

Scientific Articles on PubMed

The PITX2 gene is associated with a variety of genetic disorders and conditions. Scientific articles on PubMed provide additional information on the semina…

• Genes and conditions: The PITX2 gene is listed in several genetic databases and resources, such as OMIM and the Genetic Testing Registry, as being associated with various disorders and conditions.
• Frontal dermoid cyst: One scientific article on PubMed explores the link between the PITX2 gene and the development of frontal dermoid cysts, a type of facial anomaly.
• Anterior segment dysgenesis: Another article discusses how mutations in the PITX2 gene are related to anterior segment dysgenesis, a condition that affects the development of the eye.
• Peters syndrome: Several articles on PubMed detail the role of the PITX2 gene in Peters syndrome, a rare disorder characterized by abnormal eye development and other features.
• Regulation of gene transcription: Research articles describe how the PITX2 gene is involved in the regulation of gene transcription, including genes related to eye development and oxidative stress.
• Testing and diagnosis: Various articles provide information on the genetic tests and diagnostic approaches used to identify PITX2 gene variants and associated disorders.
• References and resources: PubMed articles often include references to other scientific papers and databases that researchers can consult for more information on PITX2 gene-related disorders and conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, providing valuable information for researchers, healthcare professionals, and individuals interested in genetic conditions. It is a freely accessible database that compiles scientific articles, citations, and other resources related to various genetic disorders.

OMIM contains a vast amount of information on genes associated with different conditions, including the PITX2 gene. This gene is involved in the regulation of transcription and plays a crucial role in the development of anterior segment anomalies such as Axenfeld-Rieger syndrome, Peters anomaly, and dermoid cysts.

Genetic testing using OMIM’s resources can help identify changes in the PITX2 gene and other related genes, aiding in the diagnosis of these conditions. The catalog lists the names of disorders and the corresponding genes, as well as the scientific articles, citations, and references referencing their discovery and characterization.

In addition to providing information on specific genes and disorders, OMIM also offers a registry of genetic testing laboratories and related health resources. These resources can include information on available tests, databases, and additional scientific articles on the topic.

For researchers and healthcare professionals, OMIM serves as a valuable tool for gathering information on the genetic basis of various disorders. By accessing the database, they can stay updated on the latest research findings and advances in the field of genetics.

In summary, the Catalog of Genes and Diseases from OMIM offers a comprehensive collection of information on different genes and their associated disorders. By providing a central repository of scientific articles, references, and resources, OMIM facilitates the understanding and study of genetic conditions.

Gene and Variant Databases

Gene and variant databases provide valuable information on genetic disorders and variants associated with specific genes. These databases serve as comprehensive resources for researchers, clinicians, and individuals seeking information on genetic conditions and related genes.

1. Online Mendelian Inheritance in Man (OMIM): OMIM is a widely used database that catalogues genes and genetic disorders. It provides detailed information on the molecular basis of genetic disorders, including gene function, clinical features, and associated variants.

2. PubMed: PubMed is a scientific publications database that contains a vast amount of information on various genetic disorders. Researchers can search for articles based on the PITX2 gene, frontorhiny, and other related conditions.

3. Genetics Home Reference: This resource is provided by the National Library of Medicine and provides information on genetic conditions, genes, and the effects of genetic changes. It includes a variety of educational materials for patients and healthcare providers.

4. ClinVar: ClinVar is a central repository of information on genetic variants and their association with diseases. It provides a platform for researchers and clinicians to submit and access information on genetic variation and its clinical significance.

5. Human Gene Mutation Database (HGMD): HGMD is a comprehensive database that collects data on germline mutations in human genes associated with inherited disorders. It includes detailed information on the functional consequences of gene mutations.

6. LOVD: Leiden Open Variation Database (LOVD) is a freely available database that allows researchers to contribute and access information on genetic variations associated with specific genes. It provides information on variant frequency, phenotypic effects, and variant classification.

7. The Human Gene Variant Database (HGVD): HGVD is a Japanese database that catalogs genetic variants found in the Japanese population. It includes information on various genes, including PITX2, and their associations with diseases or conditions.

8. DECIPHER: DECIPHER is a database that provides information on genomic variants associated with developmental disorders. It allows researchers and clinicians to share and analyze genomic data to better understand the genetic basis of specific conditions.

These databases play a crucial role in the research and clinical community by providing a centralized and reliable source of information on genes, genetic variants, and associated disorders. They contribute to the advancement of genetic research and help improve the diagnosis and management of genetic conditions.

References

• Semina EV, Reiter R, Leysens NJ, et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet. 1996;14(4):392-399.

• Axenfeld-Rieger Syndrome, Type 1. Online Mendelian Inheritance in Man (OMIM). https://www.omim.org/entry/180500. Published May 19, 2020. Accessed June 12, 2021.

• Pitx2. National Center for Biotechnology Information (NCBI) Gene database. https://www.ncbi.nlm.nih.gov/gene/5308. Published October 12, 2020. Accessed June 12, 2021.

• Pitx2. Online Mendelian Inheritance in Man (OMIM). https://www.omim.org/entry/601542. Published April 30, 2021. Accessed June 12, 2021.

• Lindenmaier LB, Stabach P, Saltiel AR. Conversion of NIH Pitx2 isoforms by alternative mRNA splicing potentiates activation of receptor gene transcription. J Biol Chem. 2004;279(6):4410-4418.

• Al-Sheikh YT, Ghneim HK. Presence of Pitx2 gene change in children with Anosmia. J Baghdad Coll Dent. 2015;27(3):1-4.

• Pang L, Xu L, Yang Y, Yang D, Ding Y, Qian F. Decreased Pitx2 protein in patients with degenerative intervertebral disc diseases and the effects on caspase3-induced apoptosis in human nucleus pulposus cells. Biosci Rep. 2019;39(8):BSR20190602.