The PTCH1 gene, also known as the patched 1 gene, plays a critical role in the normal function and growth of cells. Mutations in this gene have been associated with a variety of health conditions, including Gorlin syndrome, holoprosencephaly, and certain types of skin cancer.

Gorlin syndrome, also called basal cell nevus syndrome, is an inherited condition that can cause a range of abnormalities, including skin cancer, coloboma (a malformation of the eye), and other growth disorders. Mutations in the PTCH1 gene are the most common cause of Gorlin syndrome.

The PTCH1 gene is necessary for the proper development of various tissues and organs in the body. It acts as a tumor suppressor, helping to prevent the uncontrolled growth of cells that can lead to cancer. Mutations in the PTCH1 gene can disrupt this normal function and allow cells to divide and grow uncontrollably.

Testing for mutations in the PTCH1 gene can be done through genetic testing, which analyzes a person’s DNA for changes or abnormalities in specific genes. This can be done through various tests, including microdeletion testing, which looks for large deletions or rearrangements of genetic material in a specific region of the genome.

Information on the PTCH1 gene and its associated disorders can be found in various scientific resources, including online databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide references to articles and studies that have been published on the topic, as well as information on other genes and pathways that may be related to PTCH1.

Overall, the PTCH1 gene plays a critical role in normal development and health, and mutations in this gene can lead to a variety of conditions, including Gorlin syndrome and certain types of skin cancer. Understanding the function and role of the PTCH1 gene is important for diagnostic testing, genetic counseling, and potential treatment options for individuals with these disorders.

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Health Conditions Related to Genetic Changes

Genetic changes in the PTCH1 gene have been found to be associated with various health conditions. This information has been obtained from scientific resources such as PubMed and OMIM, which provide a comprehensive catalog of genetic diseases and disorders.

One of the syndromes caused by genetic changes in the PTCH1 gene is Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome. In individuals with this syndrome, the PTCH1 gene is deleted or altered, leading to an abnormal function of the gene. This syndrome is characterized by multiple cancers, including basal cell carcinoma, as well as additional features such as palmar or plantar pits, odontogenic keratocysts, and skeletal abnormalities.

In addition to Gorlin syndrome, there are other health conditions associated with genetic changes in the PTCH1 gene. These include nonsyndromic coloboma, holoprosencephaly, and microdeletion syndrome. The PTCH1 gene plays a role in the growth and development of cells, and abnormal changes in this gene can lead to these conditions.

Further information on the health conditions related to genetic changes in the PTCH1 gene can be found in the OMIM database. This database provides detailed articles and references on various diseases and disorders, including those caused by genetic changes in the PTCH1 gene.

Testing for genetic changes in the PTCH1 gene may be necessary in cases where these health conditions are suspected. Various genetic tests are available to identify changes in this gene, including sequencing and deletion/duplication analysis. These tests may be performed in specialized laboratories or through genetic testing providers.

It should be noted that genetic changes in the PTCH1 gene are rare and sporadic, meaning they occur in individuals without a family history of the condition. Therefore, it is important to consider other genetic and environmental factors when diagnosing and managing individuals with health conditions related to the PTCH1 gene.

Gorlin syndrome

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare genetic disorder caused by changes in the PTCH1 gene. This gene is located on the long arm of chromosome 9 (9q22.3) and is responsible for the production of a protein called Patched-1, which plays a critical role in the Hedgehog signaling pathway.

Gorlin syndrome is characterized by a wide range of symptoms, including multiple basal cell carcinomas (a type of skin cancer), jaw cysts, skeletal abnormalities, congenital heart defects, and developmental abnormalities such as holoprosencephaly (a disorder in which the brain fails to divide properly during fetal development) and coloboma (a gap or hole in one of the structures of the eye).

Individuals with Gorlin syndrome have an increased risk of developing various types of cancer, including basal cell carcinoma, medulloblastoma (a type of brain tumor), and rhabdomyosarcoma (a type of soft tissue cancer). The PTCH1 gene acts as a tumor suppressor, and mutations or deletions in this gene can lead to abnormal cell growth and the formation of tumors.

Diagnosis of Gorlin syndrome is usually based on clinical features and family history. Additional tests, such as genetic testing or imaging studies, may be necessary to confirm the diagnosis. The online resources OMIM (Online Mendelian Inheritance in Man) and PubMed have comprehensive databases of scientific articles and references related to Gorlin syndrome and its associated disorders.

Treatment of Gorlin syndrome focuses on managing the symptoms and reducing the risk of cancer. Regular skin exams and biopsies are necessary to detect and treat any skin cancers early. Surgical removal or treatment with radiation or chemotherapy may be necessary for more advanced cancers. Genetic counseling and testing are also important to determine the risk of passing on the gene mutation to future generations.

References:

• OMIM: https://www.omim.org
• PubMed: https://pubmed.ncbi.nlm.nih.gov
• Toftgard, R. (2000). The PTCH gene in Gorlin syndrome. Expert opinion on therapeutic targets, 4(5), 521-531.

9q223 microdeletion

A 9q223 microdeletion is a genetic abnormality that affects a specific region on chromosome 9, known as 9q223. This microdeletion can cause a variety of health disorders and is associated with several diseases.

One of the main genes affected by this microdeletion is the PTCH1 gene, which plays a crucial role in the development and function of various cells in the body. Mutations or deletions in the PTCH1 gene can lead to rare disorders such as Gorlin syndrome, coloboma syndrome, and holoprosencephaly. Some of the symptoms associated with these disorders include skin changes, eye abnormalities, and craniofacial defects.

Information about 9q223 microdeletion and related disorders can be found in the Online Mendelian Inheritance in Man (OMIM) database. Genetic testing is available to diagnose this microdeletion and determine its specific effects on an individual’s health.

Research articles and scientific references on pubmed can provide more information on the genetic changes and abnormalities associated with 9q223 microdeletion. The PTCH1 gene, in particular, is extensively studied due to its important role in various biological pathways and its involvement in certain cancers.

Genetic tests for PTCH1 gene mutations and other related disorders are available in several genetic testing laboratories. These tests can help identify individuals who may be at risk for developing certain diseases or cancers.

Overall, the 9q223 microdeletion is a rare genetic abnormality that can cause a range of health disorders. Genetic testing and research on the PTCH1 gene and related genes are necessary to better understand the impact of this microdeletion on an individual’s health and develop appropriate treatment strategies.

Nonsyndromic holoprosencephaly

Nonsyndromic holoprosencephaly (HPE) is a rare genetic disorder characterized by abnormal brain development. It is often referred to as a “defect of midline development” because it affects the midline structures of the brain.

HPE can be divided into different subtypes based on the severity and specific features of the condition. The most severe form is called alobar HPE, where the brain fails to divide into two hemispheres. Other subtypes include semilobar HPE and lobar HPE, where there is partial division of the brain.

HPE is caused by changes in the PTCH1 gene, which is located on chromosome 9q22.3. This gene plays a crucial role in the normal growth and development of the brain. Mutations in the PTCH1 gene can disrupt the signaling pathway that regulates the development of the midline structures in the brain, leading to the abnormal development seen in HPE.

Nonsyndromic HPE is different from syndromic HPE, which is associated with other abnormalities or conditions. Syndromic HPE can be caused by mutations in other genes or by environmental factors.

Testing for mutations in the PTCH1 gene is necessary for the diagnosis of nonsyndromic HPE. Genetic testing can be done using different methods, including sequencing the PTCH1 gene. In addition, testing for other genes that are known to be associated with HPE may be necessary in some cases.

References to these genetic tests and the PTCH1 gene can be found in various scientific databases, such as PubMed, OMIM, and genetic testing catalogs. These resources provide information on the role of the PTCH1 gene in HPE, as well as other genetic changes that can cause HPE.

In addition to the PTCH1 gene, several other genes have been found to be related to HPE. These genes are involved in various biological pathways and play a role in the normal development of the brain. Some of these genes include SHH, ZIC2, SIX3, TGIF1, and GLI2.

It is important to note that HPE can also be caused by chromosomal abnormalities, such as deletions in specific regions of the genome. These chromosomal abnormalities can be detected through genetic testing and are associated with a higher risk of other health conditions, including certain types of cancer.

Information on HPE and the PTCH1 gene can be found in scientific articles and online databases. These resources provide valuable information for healthcare professionals and individuals seeking to learn more about the condition.

Overall, understanding the genetic basis of HPE, including the role of the PTCH1 gene and other related genes, is crucial for accurate diagnosis and appropriate management of this rare disorder.

Coloboma

Coloboma is a rare eye abnormality that occurs during fetal development. It is characterized by a gap or a hole in one or more structures of the eye, including the iris, retina, choroid, or optic disc. This condition can result in visual impairment or blindness, depending on the severity and location of the coloboma.

Coloboma can occur as part of a syndrome or as an isolated condition, known as nonsyndromic coloboma. It may be caused by various genetic changes, including mutations in the PTCH1 gene located on chromosome 9q22.3. This gene is also associated with other conditions such as Gorlin syndrome and holoprosencephaly.

Genetic testing is available to identify mutations in the PTCH1 gene and other genes associated with coloboma. These tests can help diagnose the condition and provide important information for managing the health of individuals with coloboma. Additionally, scientific articles listed in databases like PubMed and OMIM provide further information on the genetic basis of coloboma and related disorders.

In some cases, coloboma may be caused by chromosomal abnormalities, such as microdeletion in the 9q22.3 region. Testing for these changes may require different methods, such as chromosomal microarray analysis.

Coloboma is a rare condition, but it may occur more frequently in certain populations and families with a history of the disorder. Genetic counseling and testing can help determine the risk of passing on the condition to future generations.

It is important to note that coloboma can also be associated with other health conditions, including certain cancers. For example, people with Gorlin syndrome, caused by mutations in the PTCH1 gene, have an increased risk of developing basal cell carcinoma, a type of skin cancer. Regular monitoring and screening for these conditions may be necessary for individuals with coloboma and related genetic changes.

References:

1. Toftgard, R. (2000). The PTCH gene in basal cell carcinomas and other cancers. Journal of dermatological science, 23(2), 106-114.
2. OMIM: Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/entry/601309
3. PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/

Other disorders

Aside from holoprosencephaly, PTCH1 gene mutations have been found to be associated with several other disorders. These include:

1. Coloboma: PTCH1 gene changes have been reported in individuals with coloboma, a condition characterized by abnormal development of the eye.
2. Gorlin syndrome: Also known as nevoid basal cell carcinoma syndrome, Gorlin syndrome is a rare genetic disorder that causes multiple basal cell carcinomas, jaw cysts, and other abnormalities. PTCH1 gene mutations are responsible for most cases of Gorlin syndrome.
3. Microdeletion 9q22.3: Some individuals with a deletion of a specific region on chromosome 9q22.3 have been found to have PTCH1 gene deletions as well. This condition is associated with developmental delays, intellectual disability, and other features.
4. Toftgard syndrome: This rare disorder is caused by PTCH1 gene mutations and is characterized by multiple basal cell carcinomas, jaw cysts, and other abnormalities similar to Gorlin syndrome.

Testing for PTCH1 gene mutations may be necessary to confirm a diagnosis of these conditions. Additional genetic tests may be available to further evaluate specific abnormalities or changes in other genes associated with these disorders.

References to scientific articles, databases, and other resources can be found in OMIM, PubMed, and other catalogs. These resources provide information on the function of PTCH1 and other related genes, as well as the role these genes play in normal growth and development. The PTCH1 variant registry is also a valuable resource for information on PTCH1 gene changes and associated disorders.

It is important for individuals with PTCH1 gene mutations or related disorders to receive appropriate medical care and monitoring, including regular cancer screenings and management of any other health conditions associated with these gene changes.

Cancers

The PTCH1 gene has been associated with several types of cancers. Mutations in this gene have been found in rare familial cancer syndromes and sporadic cancers.

One of the most well-known syndromes associated with PTCH1 mutations is called Gorlin syndrome, also known as basal cell nevus syndrome. This syndrome is characterized by the development of multiple basal cell carcinomas, a type of skin cancer.

PTCH1 mutations have also been found in other cancers, including medulloblastoma, rhabdomyosarcoma, and ovarian cancer. These mutations disrupt the normal function of the PTCH1 protein, leading to abnormal cell growth and the development of cancer.

To diagnose PTCH1-related cancers, genetic testing is often necessary. This can involve testing for specific mutations in the PTCH1 gene or screening for large deletions or duplications of the gene. Several resources, such as OMIM and PubMed, provide information on the different PTCH1 gene variants and their association with various cancers.

In addition to PTCH1, other genes are also involved in the development of these cancers. For example, mutations in the SUFU gene and the GLI2 gene have been associated with Gorlin syndrome and medulloblastoma. The specific role of each gene in cancer development is still being studied.

It is important to note that not all individuals with PTCH1 gene mutations will develop cancer. The presence of a mutation increases the risk, but other factors, such as environmental exposures and individual health, can also influence cancer development.

Genetic counseling and testing are recommended for individuals with a family history of PTCH1-related cancers or those who exhibit specific clinical features associated with these conditions. Testing can help determine the presence of a mutation and provide additional information for managing the risk of cancer.

Other Names for This Gene

The PTCH1 gene is also known by several other names due to changes in the scientific understanding of its role and its association with various disorders:

• 9q22.3 microdeletion
• ABN
• BCNS
• BCNS1
• BCCS1
• CCCH
• Coloboma, microphthalmia, and malformation of the ear
• Gorlin syndrome 1
• Gorlin syndrome 2
• HPE7
• NSGC1
• Nonsyndromic holoprosencephaly 7
• PCTCH
• Patched1
• PTC
• PTCH
• PTCH11
• SCCNBMS
• SCLCR
• SCLCR1
• SMOAD2
• TCBMS
• TP53I3
• Visible chromosome 9 deletion

These various names reflect the different disorders and conditions with which the PTCH1 gene has been associated. For example, Gorlin syndrome (BCNS) is a rare genetic disorder characterized by abnormal growth of the skin and the development of cancer, while nonsyndromic holoprosencephaly is a condition where the embryonic forebrain fails to divide properly. The PTCH1 gene is listed as the causal gene for these disorders among other genetic resources, such as OMIM and scientific publications in PubMed.

Additional studies and scientific articles have also linked PTCH1 to other genes and pathways involved in cell growth and division, such as the TOFTGARD pathway. PTCH1 is located in the 9q22.3 region, and alterations in this gene can cause coloboma, a type of eye abnormality, as well as various cancers. There are genetic tests available to detect variants in the PTCH1 gene when necessary, particularly for diagnosing Gorlin syndrome and certain cancers. It is important to note that mutations in PTCH1 are not always pathogenic and may be found in individuals with normal health.

References to these other names for the PTCH1 gene can be found in scientific databases, research articles, and registries for specific diseases and syndromes, including the Gorlin Syndrome Registry.

Additional Information Resources

Additional information and resources related to the PTCH1 gene and its functions, genetic conditions, and diseases can be found in the following sources:

1. Tests and Registries:

• Coloboma Registry: A registry for individuals with coloboma, a condition associated with PTCH1 gene mutations.
• Coloboma Pathway: Information on the coloboma pathway and its relation to PTCH1 gene mutations.
• Carcinoma Testing: Tests for PTCH1 gene mutations in relation to various cancers, including basal cell carcinoma.
• Toftgard Testing: Genetic testing for PTCH1 gene mutations and related functions.

2. Additional Genetic Resources:

• Genetic Conditions and Diseases: Information on PTCH1 gene mutations and their association with various genetic conditions and diseases.
• Scientific Articles: Research articles on PTCH1 gene mutations and their implications in certain genetic disorders.
• OMIM Database: Information on PTCH1 gene, including its function and associated genetic conditions.
• Pubmed: A database of scientific publications with articles related to PTCH1 gene mutations and their effects.

Note: It is necessary to acknowledge that PTCH1 gene mutations can cause various genetic conditions and diseases, including Gorlin syndrome, nonsyndromic coloboma, and holoprosencephaly. PTCH1 gene is also known by different names, and information on these names can be found in the mentioned resources. Furthermore, PTCH1 gene can be deleted or undergo changes in its structure, leading to abnormal growth of cells and the development of certain cancers. PTCH1 gene is related to other genes involved in normal cell division and growth processes.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of genetic tests for various conditions. These tests are designed to detect genetic abnormalities, including rare genetic disorders, in specific genes and cells. The PTCH1 gene is one of the genes included in these tests.

Some of the conditions listed in the GTR that are related to PTCH1 gene changes include Gorlin syndrome, holoprosencephaly, and coloboma. The GTR provides detailed information about each genetic test, including the names of the tests, the genes being tested, and information on the associated health conditions.

For each test listed in the GTR, there are additional resources available, including scientific articles, references to related articles in PubMed, and information about the genetic pathway or region being tested. The GTR also provides information on other genes or genetic changes that may be associated with the tested condition.

Testing for PTCH1 gene changes is important for diagnosing various disorders, including Gorlin syndrome and holoprosencephaly. These tests can help identify normal or abnormal changes in the gene and provide necessary information for healthcare professionals to make informed decisions about patient care.

Additionally, there are tests available in the GTR to detect chromosome microdeletions, which are deletions of a small region of a chromosome. Microdeletions can play a role in certain disorders, such as certain types of cancer or genetic overgrowth syndromes. The GTR provides detailed information on these tests and their role in diagnosing these conditions.

In summary, the Genetic Testing Registry is a valuable resource for healthcare professionals and researchers to access information on genetic tests for various conditions. The inclusion of PTCH1 gene tests in the registry allows for the identification of genetic abnormalities related to Gorlin syndrome, holoprosencephaly, and other related disorders. The GTR provides comprehensive information on these tests and additional resources for further exploration.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the PTCH1 gene and its role in various cancers and disorders.

These articles provide important information on the PTCH1 gene and its function in different diseases and conditions, including coloboma, normal and abnormal growth, holoprosencephaly, and other genetic disorders.

Some of the notable articles found on PubMed include:

• “Genetic testing for PTCH1 gene mutations in Gorlin syndrome: a registry-based study”
• “PTCH1 gene abnormalities in sporadic basal cell carcinomas”
• “Pathway genes in congenital heart diseases and other disorders”
• “PTCH1 gene mutations and their association with holoprosencephaly”

In addition to these articles, PubMed also provides a comprehensive catalog of scientific articles on PTCH1 gene-related topics, including information on genetic testing, syndrome associations, and other rare genetic conditions.

Researchers and healthcare professionals can access PubMed to find more information on PTCH1 gene abnormalities and their role in various diseases.

To access these resources, it is necessary to search the PubMed database using specific keywords, such as “PTCH1 gene” or “PTCH1 gene mutations.” This will provide a list of available articles and scientific journals that have published research on this topic.

Furthermore, databases like OMIM and Toftgard provide additional information and variant listings for the PTCH1 gene.

Overall, scientific articles on PubMed play a crucial role in advancing our understanding of the PTCH1 gene and its implications in various health conditions.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It includes information about various genetic conditions and the genes associated with them. This article will focus on the PTCH1 gene and related diseases.

• PTCH1 gene: The PTCH1 gene is located on chromosome 9q22.3 and encodes the protein patched-1. It plays a crucial role in the Hedgehog signaling pathway, which is involved in embryonic development and cell growth.
• Holoprosencephaly: Mutations in the PTCH1 gene have been identified in individuals with holoprosencephaly, a rare genetic disorder characterized by abnormal brain development. Genetic testing for PTCH1 gene changes is necessary to confirm a diagnosis of holoprosencephaly.
• Gorlin syndrome: Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is caused by PTCH1 gene mutations. It is characterized by multiple basal cell carcinomas and other skin manifestations. Genetic testing can help identify these mutations.
• Coloboma: PTCH1 gene variants have also been associated with coloboma, a condition characterized by abnormal development of the eye. Genetic testing can detect these variants and aid in the diagnosis of coloboma.
• Related diseases: The OMIM catalog includes other genetic diseases and conditions that are caused by PTCH1 gene abnormalities, including certain types of cancers, such as sporadic basal cell carcinomas and medulloblastomas.

Disease Name	OMIM ID	References
Holoprosencephaly	142945	PubMed
Gorlin syndrome	109400	PubMed
Coloboma	120200	PubMed
Sporadic basal cell carcinoma	605462	PubMed

Genetic testing and the use of databases such as OMIM are essential in understanding the function of PTCH1 gene and its role in various diseases. Additional research articles can be found in the referenced scientific literature. The information provided here is meant to serve as a brief overview and is not exhaustive.

Gene and Variant Databases

There are several resources available for the study of the PTCH1 gene and its variants. These databases contain information on the gene’s function, associated diseases, and abnormal changes that can cause overgrowth conditions and other abnormalities.

The PubMed database is a comprehensive resource for scientific articles on genetic research. It contains a wealth of information on the PTCH1 gene and its role in various diseases. Researchers can search for specific articles and stay up to date with the latest findings.

The OMIM database (Online Mendelian Inheritance in Man) catalog is another valuable resource. It provides detailed information on genetic disorders and the genes associated with them. The PTCH1 gene is listed in this database, along with its associated conditions such as Gorlin syndrome.

The PTCH1 Registry is a database specifically dedicated to collecting information on individuals with PTCH1 gene variants. It serves as a platform for researchers to share and access data, and it also provides support and resources for individuals affected by PTCH1-related conditions.

Genetic testing laboratories, such as Toftgard, offer specific tests that can identify variants in the PTCH1 gene. These tests are often necessary for the diagnosis of PTCH1-related conditions and can help guide treatment decisions. Microdeletion testing may be necessary in some cases to detect larger deletions in the PTCH1 gene region.

In addition to the PTCH1 gene, there are many other genes associated with overgrowth conditions, skin disorders, and various cancers. Resources such as the PTEN gene database provide information on genes related to conditions like Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

In conclusion, there are several databases and resources available for studying the PTCH1 gene and its variants. These resources provide valuable information on gene function, associated diseases, and testing options. Researchers can use these databases to further their understanding of PTCH1-related conditions, and individuals affected by these conditions can find support and additional information.

References

1. Toftgård R. (2000). PATCHED, the receptor for SONIC HEDGEHOG, is desmoplastic medulloblastoma, gliomas, congenital malformations, and sporadic basal cell carcinoma. Am J Hum Genet. 67(5):1043-48.
2. Chidambaram A. et al. (2019). Carriers of a germline PTCH1 mutation are at high risk for duodenal carcinoma. Gut. 68(4):548-49.
3. https://www.omim.org/entry/601309
4. https://www.ncbi.nlm.nih.gov/pubmed/10455257
5. https://ghr.nlm.nih.gov/gene/PTCH1
6. Vaclavikova R. et al. (2019). The Role of PTCH1 in Development and Disease. Int J Mol Sci. 20(18):4660. doi: 10.3390/ijms20184660.
7. Bale AE. et al. (1992). Ptch gene mutations in familial and sporadic basal cell carcinomas. Cancer Res. 52(23 Pt 1):6787-89.
8. https://omim.org/entry/601309.
9. https://www.ncbi.nlm.nih.gov/pubmed/15685061
10. Johnson RL. et al. (1996). Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet. 14(3):357-60.
11. https://gene.sfari.org/database/human-gene/PTCH1