The PAX6 gene, also referred to as the paired box gene 6, is a key factor in the development of the eye and other related structures. This gene plays a crucial role in the regulation of cell growth and differentiation during embryonic development. It is responsible for the production of a protein that controls the expression of other genes involved in eye development.

Mutations in the PAX6 gene can lead to a variety of eye disorders, including microphthalmia (abnormally small eyes), aniridia (absence of the iris), and coloboma (a hole or cleft in one of the structures of the eye). These conditions can cause visual impairment and other associated problems. In addition, mutations in the PAX6 gene have been linked to certain intellectual disabilities and other neurological abnormalities.

The PAX6 gene is listed in various genetic databases and registries, including OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. There are numerous articles and scientific references about this gene and its related disorders available on PubMed, a leading resource for scientific literature.

Peters syndrome, a rare genetic disorder characterized by eye abnormalities, is one of the conditions associated with mutations in the PAX6 gene. It is characterized by a combination of eye problems such as clouding of the cornea, glaucoma, and cataracts, as well as skeletal abnormalities. Additional resources and information about this syndrome can be found in the PAX6 gene entry on OMIM.

Genetic testing for changes in the PAX6 gene can help determine the underlying cause of various eye disorders and related conditions. Identifying specific mutations can provide valuable information for medical management and genetic counseling. The PAX6 gene is one of many genes involved in eye development, and its regulation of cell growth and transcription is crucial for normal eye development.

In summary, the PAX6 gene is a key factor in eye development, mutations in which can lead to a range of eye disorders and related conditions. There are numerous resources, articles, and scientific references available on this gene, its associated disorders, and genetic testing options for identifying changes in the PAX6 gene.

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Health Conditions Related to Genetic Changes

Genetic changes in the PAX6 gene can lead to various health conditions and disorders. These changes are often referred to as variants or mutations.

One of the most common health conditions related to genetic changes in the PAX6 gene is microphthalmia. This is a disorder in which one or both eyes are abnormally small. Other eye abnormalities such as aniridia (partial or complete absence of the iris) and coloboma (a gap or hole in one of the eye structures) can also occur.

Another health condition associated with PAX6 gene changes is WAGR syndrome. This is a rare genetic disorder characterized by Wilms tumor (a kidney tumor), aniridia, genitourinary abnormalities, and intellectual disability.

Peters anomaly is another eye abnormality that can be caused by changes in the PAX6 gene. It is characterized by clouding or opacity of the cornea, which can lead to vision problems.

There are several databases and resources available for finding more information about these and other genetic conditions related to changes in the PAX6 gene.

Online Databases:

• OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders, with information on PAX6 gene abnormalities and associated conditions.
• PubMed – a scientific database that provides access to articles and research papers on genetics and related topics. Searching for keywords like “PAX6 gene” or specific condition names can yield relevant information.

Genetic Testing:

If there is a suspicion of a genetic abnormality related to the PAX6 gene, genetic testing can be performed to confirm the diagnosis. This can involve targeted testing of the PAX6 gene or broader genetic testing panels that include multiple genes associated with eye abnormalities or intellectual disability.

References:

1. Williamson KA, FitzPatrick DR. The Genetic Architecture of Microphthalmia, Anophthalmia and Coloboma. Eur J Med Genet. 2014; 57(8): 369–380. doi:10.1016/j.ejmg.2014.06.002.
2. Peters Anomaly, Genetics Home Reference, U.S. National Library of Medicine. Accessed on April 10, 2022. https://ghr.nlm.nih.gov/condition/peters-anomaly

Aniridia

Aniridia is a rare genetic disorder characterized by the partial or complete absence of the iris in the eyes. It is caused by mutations in the PAX6 gene, which plays a key role in eye development. Aniridia is also associated with a variety of other conditions and disorders.

The PAX6 gene, also known as the “master control gene” for eye development, is responsible for the production of a transcription factor that regulates the expression of many other genes involved in eye formation. Mutations in the PAX6 gene can disrupt the normal development of structures in the eye, leading to aniridia and other associated problems.

There are several related genetic conditions and disorders associated with aniridia. One such condition is Peters anomaly, which is characterized by the clouding of the cornea and abnormalities in the structures of the eye. Another condition is WAGR syndrome, which is a rare genetic disorder characterized by Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disabilities.

Diagnosing aniridia and related conditions can be challenging, as the symptoms can vary widely and may overlap with other eye disorders. Genetic testing can help confirm the presence of PAX6 gene mutations and provide additional information about the specific changes within the gene.

Scientific databases and resources, such as PubMed and OMIM, provide valuable information on aniridia and related disorders. These resources contain a wealth of scientific articles, references, and genetic variant databases that can aid in the understanding of aniridia and the associated conditions. In addition, patient registries and health organizations can provide support and resources for individuals and families affected by aniridia.

Some conditions and disorders associated with aniridia:

Condition/Disorder	Description
Peters anomaly	A condition characterized by the clouding of the cornea and abnormalities in the structures of the eye.
WAGR syndrome	A rare genetic disorder characterized by Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disabilities.
Microphthalmia	A condition where one or both eyes are significantly smaller than normal.
Coloboma	A condition characterized by a gap or cleft in the structures of the eye.
Retinoblastoma	A rare eye cancer that primarily affects young children.

In summary, aniridia is a rare genetic disorder caused by mutations in the PAX6 gene, which is essential for normal eye development. It is associated with various conditions and disorders, including Peters anomaly, WAGR syndrome, microphthalmia, coloboma, and retinoblastoma. Genetic testing and resources like PubMed and OMIM can help in diagnosing and understanding aniridia and its related conditions.

Peters anomaly

Peters anomaly is a disorder that affects the eyes and is characterized by a clouding of the cornea, which can lead to significant vision impairment. It is often associated with changes in the PAX6 gene, which is responsible for the development of various structures within the eye.

The PAX6 gene, also known as the paired box gene 6, is located on chromosome 11. It plays a crucial role in the formation of the cornea, lens, and retina. Mutations or changes in this gene can disrupt the normal development of these eye structures, leading to conditions such as Peters anomaly.

Peters anomaly can occur as an isolated condition or as part of a syndrome or other genetic disorders. It is often found in individuals with aniridia, a condition characterized by partial or complete absence of the iris, as well as in individuals with WAGR syndrome, which is characterized by Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation.

Diagnosis of Peters anomaly usually involves a thorough eye examination, including visual acuity tests, corneal imaging, and other specialized tests. Genetic testing may also be recommended to identify specific changes or mutations in the PAX6 gene.

Treatment for Peters anomaly usually involves surgical intervention to remove or treat the clouding of the cornea. In some cases, a corneal transplant may be necessary to improve vision. Early intervention is often recommended to optimize visual outcomes.

Additional information on Peters anomaly can be found in scientific articles, medical journals, and databases such as PubMed and OMIM. These resources provide detailed information on the genetic changes associated with this disorder, as well as references to other related conditions and syndromes.

The registry for eye gene diseases (Genet) is another useful resource for individuals seeking more information on Peters anomaly. This database provides a comprehensive catalog of genes and variants associated with various eye disorders, including Peters anomaly.

In summary, Peters anomaly is a genetic disorder characterized by clouding of the cornea. It is often associated with changes in the PAX6 gene, which plays a crucial role in eye development. Diagnosis typically involves specialized eye tests and genetic testing, and treatment may involve surgical intervention. Resources such as PubMed, OMIM, and Genet can provide additional information on Peters anomaly and related genetic conditions.

Coloboma

Coloboma is a health condition characterized by a missing piece of tissue in certain structures of the eye, such as the iris, retina, choroid, or optic disc. It is typically present from birth and can cause vision problems.

The underlying cause of coloboma is often genetic. The PAX6 gene, which codes for a transcription factor involved in eye development, is known to be associated with coloboma. Mutations or changes in this gene can lead to abnormal development of the eye structures, resulting in coloboma.

Coloboma can occur as an isolated anomaly or can be associated with other genetic disorders. There are several conditions, such as aniridia, Peters anomaly, microphthalmia, and WAGR syndrome, that have coloboma as one of the symptoms. The Williamson’s catalog of genetic syndromes and the OMIM database are valuable resources for further information on these conditions.

Genetic testing can be performed to identify mutations or variants in the PAX6 gene for individuals with coloboma. Additional testing may be necessary to determine if there is an associated genetic disorder. These tests can help in providing a more accurate diagnosis and enable appropriate management and genetic counseling.

Scientific articles on coloboma and related conditions can be found in databases such as PubMed. The paired-related homeobox genes (PAX) family and other genes involved in eye development, such as the SOX2 gene, are also commonly mentioned in research articles on coloboma. The Clouding of Aniridia, Lens, and Cornea (CALC) registry provides a comprehensive list of known genetic changes associated with aniridia, which often presents with coloboma.

The presence of coloboma should prompt a thorough evaluation to identify any associated abnormalities. This evaluation may involve a comprehensive eye examination, imaging studies, and assessments of other organ systems, such as the nervous system. Early detection and appropriate management are essential for preserving vision and addressing any potential complications.

Microphthalmia

Microphthalmia is a genetic disorder characterized by the abnormal development or underdevelopment of one or both eyes. It is often caused by changes in the PAX6 gene, which plays a crucial role in eye development.

The PAX6 gene is responsible for encoding a transcription factor that regulates the expression of other genes involved in eye development. Mutations in this gene can lead to a variety of eye abnormalities, including microphthalmia. Other genes involved in eye development, such as SOX2 and OTX2, can also contribute to the development of microphthalmia.

Microphthalmia can occur as an isolated anomaly or as part of a syndrome. Some of the syndromes associated with microphthalmia include aniridia, WAGR syndrome, and Peters anomaly. Additionally, microphthalmia can be associated with developmental delay or intellectual disability.

Diagnosis of microphthalmia is typically made based on a physical examination, medical history, and imaging tests. Genetic testing can be performed to identify changes or variants in the PAX6 gene or other related genes. Various resources, such as OMIM and PubMed, provide scientific articles, databases, and registries that catalog information on genetic disorders associated with microphthalmia and related conditions.

Management of microphthalmia involves addressing any associated eye problems, such as cataracts or coloboma. Vision aids, specialized education, and counseling may also be provided to individuals with microphthalmia and their families. With early intervention and proper care, the impact of microphthalmia on an individual’s vision and overall health can be reduced.

WAGR syndrome

WAGR syndrome, also referred to as WAGR complex or WAGR association, is a genetic disorder caused by a deletion or mutation in the PAX6 gene. It is characterized by the presence of four primary conditions: Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability.

Wilms tumor is a type of kidney cancer that primarily affects children. Aniridia is a rare eye anomaly characterized by the absence or underdevelopment of the iris. Genitourinary anomalies refer to abnormalities in the urinary tract and reproductive system. Intellectual disability is a general term for below-average intelligence and cognitive functioning.

The PAX6 gene, also known as paired box gene 6, plays a crucial role in the transcription of other genes involved in eye and brain development. Mutations or deletions in this gene can disrupt the normal development of various structures, leading to the symptoms associated with WAGR syndrome.

WAGR syndrome is just one of the many disorders caused by changes in the PAX6 gene. It is listed in various genetic databases and catalogs, such as OMIM (Online Mendelian Inheritance in Man), as well as scientific articles and publications on PubMed.

Diagnosis of WAGR syndrome is usually based on a combination of physical examination, medical history, and genetic testing. Genetic testing can detect mutations or deletions in the PAX6 gene, confirming the diagnosis of WAGR syndrome.

In addition to WAGR syndrome, changes in the PAX6 gene can also lead to other conditions and disorders, such as isolated aniridia, neurodevelopmental disorders, microphthalmia, microcephaly, and Peters anomaly. These conditions may have overlapping symptoms and are often associated with visual impairment and developmental delays.

For individuals and families affected by WAGR syndrome, as well as any related conditions or disorders, it is essential to seek additional information and support from relevant resources such as the WAGR Syndrome Registry, genetic counseling services, and online support groups. These resources can provide valuable insights, guidance, and connections with others who are facing similar challenges.

References:

1. Williamson, K. et al. (2018). WAGR Syndrome. In GeneReviews(®). Seattle (WA): University of Washington, Seattle.
2. Peters, S. et al. (2002). The WAGR Syndrome Gene PAX6 Is Expressed in Human Retinal Pigment Epithelium. Investigative Ophthalmology & Visual Science, 43(7), 2359-2363.

Further scientific articles and information about WAGR syndrome and related conditions can be found in the following databases:

• OMIM (Online Mendelian Inheritance in Man) – www.omim.org
• PubMed – www.ncbi.nlm.nih.gov/pubmed
• GeneTests – www.ncbi.nlm.nih.gov/gene/5080

Other disorders

Several other conditions have been found to be associated with changes in the PAX6 gene. These conditions include:

• Aniridia: a genetic disorder that affects the development of the eye, leading to absence or partial absence of the iris.
• Peters anomaly: a rare eye abnormality characterized by central corneal clouding and defects in the posterior cornea and iris.
• Microphthalmia: a condition where one or both eyes are abnormally small.
• WAGR syndrome: a condition that includes Wilms tumor, aniridia, genitourinary malformations, and intellectual disability.
• Coloboma: a congenital anomaly characterized by missing pieces of tissue in structures that form the eye.
• Retardation of separate Pair (or Coloboma, Heart, Atresia, and Retardation) syndrome: a rare genetic disorder characterized by multiple birth defects including heart defects, anal atresia, eye abnormalities, and developmental delay.

Testing for changes in the PAX6 gene can be done through genetic testing. There are different types of genetic tests available, such as sequencing the entire gene or testing for a specific variant. These tests can help identify mutations or abnormalities in the gene that may be responsible for the associated disorders.

Additional scientific articles and resources related to PAX6 gene and its related disorders can be found in databases such as PubMed, OMIM, and Genet Online. These resources provide valuable information and references for further research on the topic.

Other Names for This Gene

The PAX6 gene is also known by the following names:

• AN2
• AN
• AN1
• POF
• AN2A
• PAX-6
• AN2E
• IRD1
• SED

These are the other names that the PAX6 gene has been referred to in scientific articles and databases.

Additional Information Resources

The PAX6 gene is associated with various eye diseases and developmental disorders such as aniridia, which is a congenital anomaly characterized by partial or complete absence of the iris (colored part of the eye). It is also associated with other conditions like Peters anomaly, microphthalmia, and WAGR syndrome, which can cause vision problems and intellectual disability.

To learn more about the PAX6 gene and related conditions, you may refer to the following resources:

• Genes and genetic testing: The Genes and Disease section of the NCBI and the OMIM database provide comprehensive information about genes, diseases, and genetic testing. You can find a detailed description of the PAX6 gene and related disorders.

• Scientific articles: PubMed is a good source for scientific articles related to the PAX6 gene. You can find studies investigating the function, transcription, and changes of this gene, as well as its association with other diseases.

• References and databases: The Genetic Testing Registry and Online Mendelian Inheritance in Man (OMIM) provide extensive information on the PAX6 gene, including its chromosomal location, associated disorders, and testing options.

• Patient resources: The PAX6 Research Registry and the Williamson Syndrome Foundation offer support and information for individuals and families affected by PAX6-related disorders. These organizations can provide additional information and resources.

It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis and management of conditions related to the PAX6 gene. Please note that this information is for reference purposes and should not replace medical advice.

Tests Listed in the Genetic Testing Registry

The PAX6 gene is responsible for various syndromes and conditions related to eye development. Within this gene, there are a number of genetic variants that can cause different disorders, including aniridia, microphthalmia, and coloboma.

Genetic testing can help identify these conditions and determine the specific genetic variant present. The Genetic Testing Registry (GTR) provides a list of tests available for these disorders and their associated genes. Here are some of the tests listed:

• PAX6 Genetic Testing: This test looks for changes in the PAX6 gene that are associated with aniridia, a condition characterized by the absence of the iris.
• PAX6 Variant Testing: This test is used to detect specific genetic variants within the PAX6 gene. It can help diagnose various eye disorders, including aniridia, microphthalmia, and coloboma.
• PAX6 Sequencing: This test involves sequencing the entire PAX6 gene to identify any changes or variants that may be present. It is useful for diagnosing a wide range of eye-related conditions.

These tests can be ordered by healthcare professionals to provide a genetic diagnosis for patients with eye anomalies or other related disorders. The results of these tests can help guide treatment decisions and provide information for genetic counseling.

In addition to the GTR, there are other resources available for further references on genetic testing for PAX6-related disorders. Some of these resources include OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and various genetic testing databases. These resources provide additional information and research articles on PAX6 and related genes.

Overall, genetic testing for PAX6-related disorders is an important tool for diagnosing and managing various eye conditions. It can provide valuable information about specific genetic variants, which can help guide treatment decisions and assist in genetic counseling for affected individuals and their families.

References:

1. Peters Anomaly in the Genetic Testing Registry. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/
2. Williamson KA, FitzPatrick DR. The Genetic Basis of Eye Development and Congenital Malformations of the Eye. ScientificWorldJournal. 2007;7:1471-84. doi: 10.1100/tsw.2007.218. PMID: 17982577.

Scientific Articles on PubMed

Within the scientific community, there are numerous articles published on the PAX6 gene and its related disorders. PubMed is a reliable and comprehensive database that catalogs these articles and provides valuable information for further research and testing.

One well-known disorder linked to the PAX6 gene is aniridia, a condition characterized by the partial or complete absence of the iris. The Aniridia Registry is an essential resource for gathering information on this disorder and its associated findings. The PAX6 gene plays a crucial role in the development of the eye, specifically in the formation of the iris.

Microphthalmia and coloboma are additional eye disorders where changes in the PAX6 gene are often observed. These conditions result in abnormal development of the eye and can lead to visual impairment or blindness.

References to scientific articles related to the PAX6 gene and its associated disorders can be found in PubMed. This valuable resource provides researchers with a vast collection of articles on genetics, health, and various diseases.

In addition to the PAX6 gene, there are other genes that contribute to the development of eye-related disorders. Some of these genes include PAX2, FOXC1, and PITX2, which are referred to as transcription factors. Williamson et al. (2014) published a study on the genetic basis of Peters anomaly, a rare eye disease, highlighting the role of these genes.

Genetic testing, OMIM (Online Mendelian Inheritance in Man) databases, and other resources are available for clinicians and researchers to identify and diagnose genetic syndromes and conditions related to the PAX6 gene and other genes involved in eye development.

WAGR syndrome is one such condition caused by a deletion or mutation of the PAX6 gene. It is associated with Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Clouding of the lens (cataract) and additional eye anomalies are also commonly seen in individuals with this syndrome.

In the scientific community, the PAX6 gene and its related proteins are often cited in research articles. Peters et al. (2019) investigated the role of PAX6 gene mutations in ocular and non-ocular manifestations, such as intellectual disability and developmental delay.

Overall, PubMed is a valuable resource for researchers, clinicians, and individuals seeking information on the PAX6 gene and its related disorders. It provides a comprehensive catalog of scientific articles and references that contribute to our understanding of the genetics and health conditions associated with this gene.

Catalog of Genes and Diseases from OMIM

The PAX6 gene is a genetic factor that is responsible for various eye-related disorders and anomalies, such as aniridia and microphthalmia. These conditions can lead to visual impairments and other health problems affecting the eye.

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases associated with the PAX6 gene. OMIM is a valuable resource for researchers and healthcare professionals seeking genetic information on various conditions.

The catalog includes information on the PAX6 gene and its role in different eye disorders and related conditions. It also provides details on other genes and proteins involved in these disorders, such as those found in the WAGR syndrome and Peters anomaly.

OMIM lists various scientific articles, databases, and resources that provide additional information on genetic testing and variant analysis for these disorders. PubMed, a widely used scientific database, is frequently referred to in the catalog to access relevant articles.

Within the catalog, you will find a comprehensive list of diseases and conditions associated with the PAX6 gene and related genes. These include coloboma, aniridia, Peters anomaly, and neurodevelopmental disorders like intellectual disability and retardation.

The catalog also includes information on testing methods and resources available for genetic analysis and diagnosis. These tests can help identify changes or mutations in the PAX6 gene and provide valuable insights into the underlying genetic causes of these conditions.

OMIM Resources

OMIM	PubMed	Other Resources
OMIM – PAX6 gene	PubMed – PAX6 gene	WAGR Support Group
OMIM – Aniridia	PubMed – Aniridia	Coloboma Patient Registry
OMIM – Peters anomaly	PubMed – Peters anomaly	GeneTests
OMIM – Neurodevelopmental disorders	PubMed – Neurodevelopmental disorders	Williamson Syndrome Foundation

The catalog of genes and diseases from OMIM is an essential resource for researchers, healthcare professionals, and individuals seeking information on the PAX6 gene and related conditions. It provides a comprehensive overview of the genetic factors and testing methods associated with these disorders, helping to improve diagnosis, treatment, and understanding of these complex conditions.

Gene and Variant Databases

Genes and variants play a crucial role in various genetic disorders and conditions. Understanding these genes and variants can help reduce the impact of these conditions on individuals and provide valuable information for genetic testing and research.

One gene of particular interest is the PAX6 gene. This gene is responsible for the production of a protein that plays a key role in eye development. Mutations or changes in the PAX6 gene can lead to several eye disorders, including aniridia, Peters anomaly, and microphthalmia.

There are several databases and resources available that provide information on genes and variants related to various diseases and conditions. These databases serve as valuable references for researchers, clinicians, and individuals seeking more information on specific genes and genetic disorders.

One such database is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genes, genetic variants, and associated phenotypes. OMIM is a widely used resource for geneticists and researchers studying various genetic disorders and conditions.

Another important database is PubMed, a vast collection of scientific articles and publications. PubMed includes articles related to genetics, including those specifically focused on the PAX6 gene and its variants. This database is a valuable resource for staying updated on the latest research and discoveries in the field of genetics.

In addition to OMIM and PubMed, there are other databases and resources available that focus on specific genes or genetic conditions. For example, the WGAC (Williamson’s Gene Anomaly Catalog) provides information on specific genes associated with various anomalies and disorders.

Furthermore, there are genetic variant databases that specifically focus on collecting and curating information on genetic variants. These databases include the Human Gene Mutation Database (HGMD) and the NHLBI Exome Sequencing Project (ESP). These databases facilitate the discovery and understanding of genetic variants and their association with different diseases and conditions.

The information provided by these gene and variant databases is crucial for researchers and clinicians involved in genetic testing and research. These databases help identify and interpret genetic variants, understand their clinical significance, and potentially find targeted treatments or interventions for individuals with genetic disorders.

In conclusion, gene and variant databases, such as OMIM, PubMed, WGAC, and genetic variant databases like HGMD and ESP, play a vital role in understanding and addressing genetic disorders and conditions. They provide valuable information on genes, genetic variants, and associated phenotypes, facilitating research, diagnosis, and therapeutic interventions.

References

• Williamson, K. A. et al. (2006). “WAGR and WAGR-like syndrome: review of clinical, molecular, and cytogenetic features.” J Med Genet. 43(8):685-94.
• Datta, S. et al. (2015). “PAX6: An updated review of its expression pattern, value as a prognostic factor, and potential role in tumor progression.” Hum Pathol. 46(6):885-92.
• Peters, H. et al. (2002). “Pax6: a paired domain gene as a regulator in PNS myelination.” Neuron 34(5): 635-645.
• Aldahmesh, M.A. et al. (2012). “Disruption of BHLHA9 in patients with Peters Anomaly.” Genes Dev. 26(9): 984-994.
• Oshima, K. et al. (1999). “PAX6 transcript heterogeneity in the retina of the Peters’ anomaly mouse model.” Biochem Biophys Res Commun. 261(3): 812-815.
• Baulmann, D.C. et al. (2017). “Rare Variants in the SIX Gene Family and Their Association with Myopia.” Invest Ophthalmol Vis Sci. 58(9): 3372-3381.