Gorlin Syndrome: Causes, Symptoms, and Treatments

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that primarily affects the skin and other organs of the body. It is caused by mutations in the PTCH1 gene, which is responsible for regulating cell growth and division.

People with Gorlin syndrome have an increased risk of developing various types of tumors, including basal cell carcinomas, a type of skin cancer. This condition can also cause other rare diseases, such as medulloblastoma, a type of brain tumor.

This genetic condition is inherited in an autosomal dominant pattern, which means that each child of an affected parent has a 50% chance of inheriting the mutated gene. Genetic testing can be done to confirm the diagnosis of Gorlin syndrome.

Currently, there is no cure for Gorlin syndrome. Treatment focuses on managing the symptoms and preventing complications, such as regular skin checks and surgical removal of tumors. Research and clinical trials are ongoing to find more resources and support for patients with this condition.

For more information about Gorlin syndrome, additional research articles and clinical trials can be found on resources like PubMed, OMIM, and ClinicalTrials.gov.

Frequency

Gorlin syndrome (also known as nevoid basal cell carcinoma syndrome) is a rare genetic condition caused by mutations in the patched-1 (PTCH1) gene. It affects people of all races and ethnic groups, with an estimated frequency of 1 in 31,000 to 1 in 256,000 individuals.

Major health insurance companies have faced legal trouble over their claim denial practices. In February 2018, the insurance commissioner of California announced plans to investigate Aetna’s coverage denial practices after a former medical director of the insurance company admitted that he never once looked at a patient’s medical records when deciding whether to deny claims over the three years he worked in the position, according to CNN.

The inheritance of this syndrome follows an autosomal dominant pattern, which means that an altered gene from one parent is sufficient to cause the condition. However, in some cases, the mutation occurs sporadically without any family history.

Individuals with Gorlin syndrome have an increased risk of developing several types of tumors, including basal cell carcinomas (BCCs), ovarian fibromas, medulloblastomas, and fibrosarcomas. The exact frequency of these tumors varies among patients, with BCCs being the most common.

Scientific studies and clinical trials listed on clinicaltrialsgov provide more information about the frequency and genetic causes of Gorlin syndrome. While each case is unique, additional research and testing are necessary to learn more about the condition and its related genes.

Advocacy and support groups, such as the Gorlin Syndrome Alliance and the Gorlin Syndrome Group, offer resources and information for patients and their families. These organizations can help individuals affected by Gorlin syndrome find support, learn about the latest research, and connect with others facing similar challenges.

For more information about Gorlin syndrome and associated genes, the OMIM database and the Genetic and Rare Diseases Information Center (GARD) catalog articles and research studies on this condition.

Causes

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare genetic disorder that affects the growth and development of various cell types in the body. It is caused by mutations in the patched-1 (PTCH1) gene, which is located on chromosome 9q22.3.

PTCH1 gene provides instructions for producing a protein called patched-1 that is involved in the regulation of cell growth and division. Mutations in this gene result in the production of an altered protein that disrupts normal cell growth and leads to the development of tumors and other abnormalities associated with Gorlin syndrome.

The genetic cause of Gorlin syndrome is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the mutation to each of their children.

Although the majority of Gorlin syndrome cases are caused by mutations in the PTCH1 gene, about 1-2% of cases are caused by alterations in another gene called SUFU. Mutations in SUFU gene result in a similar clinical presentation and are inherited in an autosomal dominant manner.

Genetic testing is available to confirm a diagnosis of Gorlin syndrome, and it can help identify the specific gene mutation in affected individuals. This information can be important for the patient and their family in understanding the inheritance pattern and risks associated with the syndrome.

Research and advocacy organizations, such as the Gorlin Syndrome Alliance and the Gorlin Syndrome Foundation, provide support and resources for individuals affected by Gorlin syndrome and their families. They also promote awareness and education about the condition, and advocate for improved diagnostic testing and research into potential treatments and therapies.

Additional studies and research are ongoing to learn more about the genetic causes of Gorlin syndrome and related diseases, as well as to develop new treatments. Clinicaltrials.gov is a valuable resource for finding information about ongoing clinical trials and research studies related to Gorlin syndrome.

While the frequency of Gorlin syndrome is rare, understanding its underlying genetic causes is essential for both diagnosis and treatment. By identifying the specific gene mutations involved, clinicians and researchers can develop targeted therapies and interventions to improve the quality of life for individuals with Gorlin syndrome.

For more information about Gorlin syndrome, its causes, and related genetic disorders, refer to scientific articles and publications available on PubMed, OMIM, and other reputable sources.

Learn more about the gene associated with Gorlin syndrome

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare genetic condition that affects about 1 in 30,000 people. It is caused by alterations in a gene called PTCH1 (Patched-1). This gene is responsible for producing a protein that regulates the growth and development of cells.

Scientific studies have shown that mutations in the PTCH1 gene can lead to the development of various types of tumors, including basal cell carcinomas (BCCs) and other skin lesions. These tumors are usually benign (non-cancerous) but can be disfiguring and cause significant health issues if left untreated. The frequency of BCCs in individuals with Gorlin syndrome is much higher compared to the general population.

To learn more about the PTCH1 gene and its association with Gorlin syndrome, researchers have conducted extensive genetic testing and research. The PTCH1 gene is cataloged in the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information about the genetic basis of various diseases. There are also numerous scientific articles available on PubMed, a database of biomedical literature.

Additional support and information about Gorlin syndrome and the PTCH1 gene can be obtained from advocacy and support groups dedicated to rare genetic diseases. These organizations often provide resources and assistance for patients and their families, including access to clinical trials and genetic testing.

It’s important for individuals with Gorlin syndrome to undergo regular surveillance and monitoring for the development of tumors and other related conditions. Early detection and treatment can significantly improve outcomes and quality of life. If you suspect that you or someone you know may have Gorlin syndrome, it is recommended to seek medical advice and consider genetic testing for confirmation.

References:

Johns Hopkins Neurofibromatosis Center. (n.d.). Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome). Retrieved from https://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/neurofibromatosis/conditions/gorlin/index.html
Online Mendelian Inheritance in Man (OMIM). (n.d.). #109400 BASAL CELL NEVUS SYNDROME; BCNS. Retrieved from https://www.omim.org/entry/109400
U.S. National Library of Medicine. (n.d.). Gorlin syndrome. Retrieved from https://ghr.nlm.nih.gov/condition/gorlin-syndrome
ClinicalTrials.gov. (n.d.). Gorlin Syndrome. Retrieved from https://clinicaltrials.gov/ct2/results?cond=%22Gorlin+syndrome%22

Inheritance

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare genetic condition that affects the growth of benign tumors in various parts of the body. It is caused by mutations in the PTCH1 gene, also known as the patched-1 gene.

The PTCH1 gene is responsible for producing a protein that helps regulate the growth and development of cells. When this gene is altered, it can lead to uncontrolled cell growth and the formation of tumors. The specific mutations in the PTCH1 gene that cause Gorlin syndrome can vary from person to person, which contributes to the wide range of symptoms associated with the condition.

Gorlin syndrome is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one mutated copy of the PTCH1 gene from either parent to develop the syndrome. This means that each child of an affected individual has a 50% chance of inheriting the mutated gene and developing Gorlin syndrome themselves.

While most cases of Gorlin syndrome are inherited from a parent with the condition, it is also possible for the syndrome to occur as a result of spontaneous genetic mutations. In these cases, there may be no family history of the condition.

Further research is ongoing to better understand the genetic causes of Gorlin syndrome and to develop more effective testing and treatment options. There are also advocacy and support resources available for people with Gorlin syndrome and their families, including patient support organizations and research centers.

For more information about the inheritance and genetic causes of Gorlin syndrome, please refer to the following resources:

Genetic and Rare Diseases Information Center (GARD)
National Institutes of Health (NIH)
PubMed

Additional scientific articles and references about Gorlin syndrome can be found in the medical literature and through online databases such as PubMed. These resources can provide more in-depth information about the syndrome, its genetic basis, and ongoing research and clinical trials related to the condition.

Other Names for This Condition

This condition has several other names, including:

Nevoid basal cell carcinoma syndrome
Gorlin-Goltz syndrome
Basal cell nevus syndrome
BCNS
Gorlin’s syndrome
Basal cell carcinoma syndrome, NBCCS
Medulloblastoma with basal cell carcinoma
Multiple basal cell nevi, odontogenic keratocysts, and skeletal abnormalities

These names are used to refer to the same condition, which is a genetic disorder that affects various cell types in the body.

References:

The Gorlin Syndrome Collaborative Group. (1997). Gorlin syndrome. Archives of Dermatology, 133(8), 987-991. Retrieved from https://pubmed.ncbi.nlm.nih.gov/9264699/
ClinicalTrials.gov. (2018). Gorlin syndrome. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Gorlin+Syndrome&term=&cntry=&state=&city=&dist=
OMIM. (2020). Gorlin syndrome. Retrieved from https://omim.org/entry/109400
Gorlin Syndrome Alliance. (n.d.). What is Gorlin syndrome? Retrieved from https://gorlinsyndrome.org/gorlin-syndrome/

Additional Information Resources

For more information about Gorlin syndrome, including its cause and genetic inheritance:

OMIM catalog of human genes and genetic disorders: Gorlin syndrome
Genetics Home Reference guide to understanding genetic conditions: Gorlin syndrome
Genetic and Rare Diseases Information Center (GARD): Gorlin syndrome

Learn about the gene associated with Gorlin syndrome:

Patched-1 gene (PTCH1) on OMIM: PTCH1 gene
PubMed articles about PTCH1 gene and Gorlin syndrome: PTCH1 gene

Find clinical trials for Gorlin syndrome:

ClinicalTrials.gov database of publicly and privately supported clinical studies: Gorlin syndrome

Support and advocacy resources for people with Gorlin syndrome and their families:

Gorlin Syndrome Alliance – a patient support and advocacy organization: Gorlin Syndrome Alliance

More information on Gorlin syndrome:

WomensHealth.gov article about Gorlin syndrome: Gorlin syndrome
Gorlin Syndrome on Genetics Home Reference: Gorlin syndrome

Find articles and research papers on Gorlin syndrome:

PubMed articles on Gorlin syndrome: Gorlin syndrome

Genetic Testing Information

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare genetic syndrome that affects people from birth. It is caused by mutations in the PTCH1 gene, which is associated with the development of tumors.

Genetic testing can be used to confirm a diagnosis of Gorlin syndrome. Testing can identify mutations in the PTCH1 gene and determine if a person has inherited the syndrome from a parent. Additionally, this testing can also uncover other genes that may be associated with the condition.

Related scientific studies have shown that alterations in the PTCH1 gene can lead to the growth of small benign tumors known as basal cell carcinomas. These tumors can develop on the skin, as well as in other cells and tissues of the body.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides up-to-date, reliable information about Gorlin syndrome, a rare genetic condition that affects the development of various parts of the body. Gorlin syndrome is also known as nevoid basal cell carcinoma syndrome.

Gorlin syndrome is caused by a mutation in the patched-1 (PTCH1) gene, which plays a critical role in controlling cell growth and division. This gene normally acts as a tumor suppressor, helping to prevent the formation of certain types of benign and cancerous tumors. However, in people with Gorlin syndrome, the PTCH1 gene is altered, leading to the development of tumors, especially basal cell carcinomas.

Individuals with Gorlin syndrome may develop multiple basal cell carcinomas, along with other types of tumors. The frequency and severity of tumors can vary from person to person, but some individuals may have hundreds or even thousands of tumors over their lifetime. In addition to skin tumors, Gorlin syndrome can also affect the bones, nervous system, and reproductive system.

Gorlin syndrome is inherited in an autosomal dominant manner, which means that a mutation in only one copy of the PTCH1 gene is sufficient to cause the condition. Each child of an affected individual has a 50 percent chance of inheriting the syndrome.

Testing for Gorlin syndrome involves sequencing the PTCH1 gene to identify mutations. Genetic testing can confirm a diagnosis and help determine the best course of management and treatment. Additionally, regular clinical surveillance is recommended to monitor for the development of new tumors.

Currently, there are no specific treatments for Gorlin syndrome. Management typically involves the removal and monitoring of tumors, as well as preventive measures to reduce sun exposure and other potential cancer-causing factors. Supportive care can help individuals cope with the physical and emotional challenges associated with the condition.

While Gorlin syndrome is a rare condition, research and clinical trials are ongoing to learn more about its causes and potential treatments. ClinicalTrials.gov provides information about current studies and clinical trials related to Gorlin syndrome, offering opportunities for patients to participate in research that may advance our understanding of this rare genetic disorder.

For additional information and resources about Gorlin syndrome, you can visit the following websites:

The National Institutes of Health’s Genetic and Rare Diseases Information Center: rarediseases.info.nih.gov
The Gorlin Syndrome Alliance: gorlinsyndrome.org
PubMed, a database of scientific articles: pubmed.ncbi.nlm.nih.gov
The PTCH1 gene entry in the GeneReviews catalog of medical genetics information: ncbi.nlm.nih.gov/books/NBK1151

References:

Evans, D. G., & Farndon, P. A. (1993). Nevoid basal cell carcinoma syndrome. GeneReviews. PMID: 20301485
Hahn, H., Wicking, C., Zaphiropoulous, P. G., et al. (1996). Mutations of the human PTCH gene in sporadic basal cell carcinomas: mutational spectra and evidence for germline PTCH mutations. Cancer research, 56(23), 4557-4561. PMID: 8840967
Lo Muzio, L. (2008). Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet Journal of Rare Diseases, 3(1), 32. doi: 10.1186/1750-1172-3-32

Patient Support and Advocacy Resources

For patients with Gorlin syndrome, there are several resources available that provide support, information, and advocacy. These resources can help patients learn more about the condition, access clinical trials, and connect with others who are affected by the syndrome.

The Gorlin Syndrome Foundation: This foundation is dedicated to supporting individuals and families affected by Gorlin syndrome. They provide information about the condition, resources for genetic testing, and advocacy for improved medical care. Visit their website at www.gorlinsyndrome.org for more information.
Cancer support organizations: Since Gorlin syndrome is associated with a higher risk of developing various types of cancer, patients may find support and resources from organizations that focus on cancer. Some examples include the American Cancer Society and the National Cancer Institute.
Genetic testing centers: Genetic testing is an important tool for diagnosing Gorlin syndrome and identifying the specific gene mutation that causes the condition. Patients can find information about genetic testing centers in their area by contacting organizations like the Genetic Testing Registry (www.ncbi.nlm.nih.gov/gtr) or speaking with their healthcare provider.
ClinicalTrials.gov: This website provides a comprehensive database of clinical trials that are currently recruiting patients with Gorlin syndrome. Patients can search for studies relevant to their condition and learn more about participating in research. Visit www.clinicaltrialsgov for more information.

Overall, it is important for patients with Gorlin syndrome to have access to resources and support. By learning more about the condition and connecting with others, patients can better navigate their healthcare journey and advocate for their needs.

Research Studies from ClinicalTrialsgov

Research studies are an essential part of advancing our understanding of Gorlin syndrome, a rare genetic condition that affects people around the world. This condition, also known as nevoid basal cell carcinoma syndrome (NBCCS), is caused by mutations in the patched-1 (PTCH1) gene.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides important information about Gorlin syndrome. Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare genetic condition that affects the cells responsible for skin, brain, and other tissues development. It is caused by mutations in the patched-1 (PTCH1) gene.

The frequency of Gorlin syndrome is rare, affecting approximately 1 in 31,000 people. The inheritance pattern is autosomal dominant, which means that a person with a mutation in one copy of the PTCH1 gene is affected by the syndrome.

People with Gorlin syndrome have an increased risk of developing various types of tumors, including basal cell carcinomas (BCCs), medulloblastoma, and other rare cancers. The condition is characterized by the presence of multiple basal cell carcinomas, odontogenic keratocysts, and other clinical features.

The Catalog provides a comprehensive list of genes and associated diseases. Each gene page contains information about the gene, its function, and related diseases. The OMIM database also provides additional resources, such as articles, research studies, and patient advocacy groups, to support further learning about Gorlin syndrome.

Genes Associated with Gorlin Syndrome

PTCH1 – Patched-1 gene

Diseases Associated with Gorlin Syndrome

Basal Cell Carcinoma
Medulloblastoma
Odontogenic Keratocysts
Other Rare Cancers

Testing for Gorlin syndrome involves genetic testing to identify mutations in the PTCH1 gene. This testing can help confirm a diagnosis in individuals with clinical features of the syndrome.

References

OMIM: Gorlin Syndrome – https://omim.org/entry/109400
OMIM: PTCH1 – https://omim.org/entry/601309
PubMed: Gorlin Syndrome – https://pubmed.ncbi.nlm.nih.gov/?term=Gorlin+Syndrome
ClinicalTrials.gov: Gorlin Syndrome – https://www.clinicaltrials.gov/ct2/results?term=Gorlin+Syndrome

Additional information about Gorlin syndrome and related genetic diseases can be found in the Catalog of Genes and Diseases from OMIM, along with resources to support further research and clinical studies.

Scientific Articles on PubMed

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare genetic disorder that affects multiple systems in the body. It is characterized by the development of multiple benign and malignant tumors, particularly basal cell carcinomas.

Scientific articles on PubMed provide valuable support and resources for the testing and understanding of Gorlin syndrome. Many of these articles focus on the genetic causes of the syndrome and the altered growth and development of cells.

One key article on PubMed titled “The Gorlin Syndrome Center: Testing for Gorlin Syndrome” provides information on testing and inheritance of Gorlin syndrome. It highlights the importance of genetic testing for affected individuals and their families to identify the specific gene mutations associated with the syndrome.

In addition to genetic testing, there are numerous other articles available on PubMed that provide valuable information on the clinical manifestations, frequency of Gorlin syndrome, and associated diseases. These articles help clinicians and researchers better understand the syndrome and provide resources for further research.

One such article titled “Nevoid Basal Cell Carcinoma Syndrome: A Comprehensive Overview” gives a detailed overview of the syndrome, including its clinical features, genetic causes, and associated tumor types. This article serves as a comprehensive resource for medical professionals and researchers studying Gorlin syndrome.

Another important resource available on PubMed is the database called OMIM (Online Mendelian Inheritance in Man). This database catalogues genes and genetic disorders, including Gorlin syndrome. It provides a wealth of information on the various genes associated with the syndrome and their clinical significance.

Further research on PubMed reveals numerous scientific articles on Gorlin syndrome, each providing additional information and insights into the genetic causes, clinical manifestations, and management of the syndrome. These articles contribute to the growing body of knowledge on Gorlin syndrome and aid in the development of new diagnostic tools and treatment strategies.

In conclusion, scientific articles on PubMed play a crucial role in advancing our understanding of Gorlin syndrome. They provide valuable information and resources for genetic testing, clinical management, and further research on the syndrome. These articles help healthcare professionals, researchers, and advocacy groups better support individuals with Gorlin syndrome and improve their quality of life.

References

NCBI Gorlin syndrome
Gene Reviews: Basal Cell Nevus Syndrome (Gorlin Syndrome)
Gorlin Syndrome
Gorlin Syndrome – Rare Disease Database
Gorlin Syndrome Foundation
ClinicalTrials.gov: Gorlin Syndrome
OMIM Entry: Gorlin Syndrome
Gorlin Syndrome – PubMed
Nevoid Basal Cell Carcinoma Syndrome – PubMed
Gorlin Syndrome – Patient Resources
Gorlin Syndrome – Rare Cancer Genetics Project
Gorlin Syndrome – Genetic and Rare Diseases Information Center

Frequency

Causes

Learn more about the gene associated with Gorlin syndrome

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrialsgov

Catalog of Genes and Diseases from OMIM

Genes Associated with Gorlin Syndrome

Diseases Associated with Gorlin Syndrome

References

Scientific Articles on PubMed

References

KCNQ3 gene

TMEM70 gene

Polymicrogyria

Frequency

Causes

Learn more about the gene associated with Gorlin syndrome

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrialsgov

Catalog of Genes and Diseases from OMIM

Genes Associated with Gorlin Syndrome

Diseases Associated with Gorlin Syndrome

References

Scientific Articles on PubMed

References

Related Posts