Pallister-Hall Syndrome is a rare genetic condition associated with mutations in the GLI3 gene. This syndrome was first described by Pallister and Hall in 1980. It is characterized by a wide range of clinical features, including abnormalities in the development of the central nervous system, the hypothalamic-pituitary axis, and the digits.

Research on Pallister-Hall Syndrome is ongoing, with clinical trials and studies registered on clinicaltrialsgov to learn more about the genetic causes, inheritance pattern, and potential treatment options for this condition. Additional information about Pallister-Hall Syndrome can be found in resources such as OMIM, PubMed, and GeneReviews.

There is limited information about the frequency of Pallister-Hall Syndrome, but it is considered to be a rare condition. It affects both males and females, and it is associated with dominant inheritance. The symptoms and severity of this syndrome can vary widely between individuals.

Support and advocacy for people with Pallister-Hall Syndrome and other rare diseases can be found at various centers and organizations. They provide resources, support, and information about diagnostic testing, genetic counseling, and available clinical trials. One such organization is the Neri Tilstra Advocacy Center for Rare Diseases. They aim to raise awareness and provide support to patients and families affected by rare genetic conditions.

Frequency

Pallister-Hall syndrome is a rare genetic condition caused by mutations in the GLI3 gene. It is estimated to affect 1 in every 1 million people. The GLI3 gene provides instructions for making a protein that plays a critical role in the development of organs and tissues during embryonic development. Mutations in this gene can disrupt normal development, leading to the features of Pallister-Hall syndrome.

This syndrome has been described in scientific articles and case reports. Information about the frequency and inheritance pattern of this condition can be found on websites such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center (GARD). These resources provide information about the genes associated with Pallister-Hall syndrome and other related diseases.

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Testing for mutations in the GLI3 gene can be done through a genetic testing center or as part of a research study or clinical trial. ClinicalTrials.gov is a central resource for finding information about ongoing clinical trials and research studies related to Pallister-Hall syndrome. It is important to consult with healthcare professionals and genetic counselors for more information on testing and available resources.

Advocacy organizations, such as the Pallister-Hall Syndrome Support and Advocacy Group, provide support and resources for individuals and families affected by this condition. They can provide information on the latest scientific research, available treatments, and support services. These organizations are also valuable sources for connecting with other individuals and families who are dealing with Pallister-Hall syndrome.

Additional information about the frequency, causes, and inheritance of Pallister-Hall syndrome can be found in scientific articles, research papers, and references provided by healthcare professionals and advocacy organizations. Learning more about this condition can help individuals and families affected by Pallister-Hall syndrome make informed decisions and access the necessary support and resources.

Causes

Pallister-Hall syndrome is a rare genetic condition that is inherited in an autosomal dominant pattern, meaning that only one copy of the disease-causing gene is needed to develop the syndrome. It is characterized by a wide range of symptoms, including abnormalities in the development of the brain, face, and limbs.

The exact cause of Pallister-Hall syndrome is not fully understood, but research suggests that it may be caused by mutations in the GLI3 gene. Mutations in this gene have been found in a subset of individuals with the syndrome, but not in all cases. Mutation testing for the GLI3 gene is available, and can help confirm a diagnosis.

Other genes may also be associated with the development of Pallister-Hall syndrome, but further research is needed to better understand their role in the condition. It is important to note that not all individuals with the syndrome will have mutations in these genes, and not all individuals with mutations in these genes will develop the syndrome.

Information about ongoing research studies, genetic testing, and additional resources for individuals and families affected by Pallister-Hall syndrome can be found through the National Institutes of Health’s Genetic and Rare Diseases Information Center, the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and other scientific research articles.

Advocacy and support organizations, such as the American Association for People with Inborn Errors of Metabolism, can also provide additional information, resources, and support for individuals and families affected by rare genetic diseases like Pallister-Hall syndrome.

References:

1.	Graham JM, Neri G. Pallister-Hall syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1465/
2.	Tilstra DS*, Hu Z*, et al. Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization. Arch Neurol. 2010;67(6):760-769. doi:10.1001/archneurol.2010.104
3.	Additional references can be found at ClinicalTrials.gov.

Learn more about the gene associated with Pallister-Hall syndrome

Pallister-Hall syndrome is a rare genetic disorder that is caused by mutations in the GLI3 gene. The GLI3 gene provides instructions for making a protein that is involved in the development and patterning of many tissues and organs during embryonic development.

In most cases, Pallister-Hall syndrome is inherited in an autosomal dominant manner, which means an affected individual has a 50% chance of passing the mutation on to each of their children. However, some cases of the syndrome are caused by de novo mutations, meaning the mutation occurs for the first time in the affected individual and is not inherited from either parent.

1. Research articles: Several research articles have been published on the GLI3 gene and its association with Pallister-Hall syndrome. These articles provide in-depth information on the genetic basis of the condition and its clinical manifestations.
2. OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the GLI3 gene, including its location, function, and associated disorders. OMIM is a valuable resource for researchers and healthcare professionals.
3. PubMed: PubMed is a searchable database of scientific articles and research papers. Searching for “Pallister-Hall syndrome” and “GLI3 gene” on PubMed can provide additional information on the gene and its role in the development of the condition.
4. ClinicalTrials.gov: ClinicalTrials.gov may have information on ongoing or completed clinical studies related to Pallister-Hall syndrome. This can be a helpful resource for patients and families seeking clinical trial opportunities or looking to participate in research studies.
5. Patient advocacy organizations: Patient advocacy organizations, such as the Pallister-Hall Syndrome Advocacy Network, can provide support, resources, and information for individuals and families affected by Pallister-Hall syndrome. These organizations often have websites with additional information on the gene, inheritance patterns, and available support networks.

Further understanding of the GLI3 gene and its relationship to Pallister-Hall syndrome is essential for the development of targeted therapies and improved management of this rare condition. By learning more about the gene, its function, and the associated mutations, researchers and healthcare professionals can better support individuals and families affected by Pallister-Hall syndrome.

Inheritance

The inheritance pattern of Pallister-Hall syndrome is autosomal dominant. This means that an affected individual has a 50% chance of passing the condition on to each of their children. The syndrome is caused by mutations in the GLI3 gene.

Family members who are concerned about their risk of inheriting the syndrome may wish to consider genetic testing and counseling. This can provide more information about the chances of passing on the condition and allow for informed family planning decisions.

Several scientific studies have been conducted to understand the inheritance and genetic basis of Pallister-Hall syndrome. These studies have identified mutations in the GLI3 gene as the underlying cause of the condition. The exact frequency of these mutations among individuals with Pallister-Hall syndrome is not well known.

Advocacy and support groups can provide additional resources and information about inheritance and genetic testing for Pallister-Hall syndrome. These organizations often have websites with links to clinical trials, research articles, and patient support resources. Some examples of such organizations include the Neri Family Genetic Disease Foundation, Central Rare Disease Foundation, and the Graham’s Foundation.

For more information about the inheritance and genetic causes of Pallister-Hall syndrome, refer to the following resources:

• Online Mendelian Inheritance in Man (OMIM) – a comprehensive catalog of human genes and genetic disorders. Search for “Pallister-Hall syndrome” to find detailed information about the syndrome and its inheritance.
• PubMed – a scientific database with articles and research studies. Search for “Pallister-Hall syndrome inheritance” or “GLI3 gene” to learn more about the genetic basis of the syndrome.
• ClinicalTrials.gov – a database of clinical trials from around the world. Search for “Pallister-Hall syndrome” to find ongoing or recruiting studies related to the syndrome and its treatment.

Other Names for This Condition

Pallister-Hall syndrome is also known by several other names:

• Pallister-Hall syndrome and hypothalamic hamartoma
• PHS
• Hamartoblastoma
• Pallister-Hall syndrome and bifid epiglottis
• Pallister-Hall syndrome and polydactyly
• Pallister-Hall syndrome and postaxial polydactyly
• Graham-Little-Piccardi syndrome
• Neri syndrome
• Tilstra syndrome
• Pallister-Hall syndrome and GH syndrome
• Pallister-Hall syndrome and pancreatic nodule
• Pallister-Hall syndrome and Morgagni hernia
• Pallister-Hall syndrome and MCA

These names reflect different aspects of the condition, including associated genetic mutations, clinical features, and related conditions. It is important to note that the underlying genetic cause of Pallister-Hall syndrome is a mutation in the GLI3 gene.

Additional information about Pallister-Hall syndrome, including research studies, genetic testing centers, and support resources, can be found on the following websites:

• PubMed: A comprehensive database of scientific studies and research articles.
• ClinicalTrials.gov: A database of ongoing clinical trials exploring various aspects of Pallister-Hall syndrome.
• OMIM: Online Mendelian Inheritance in Man is a catalog of genes and genetic disorders.
• Pallister-Hall Syndrome Central: A website dedicated to providing information and support for people with Pallister-Hall syndrome and their families.
• Pallister-Hall Gene Review: A comprehensive review of the genetic causes and clinical features of Pallister-Hall syndrome.

These resources can help individuals and families learn more about Pallister-Hall syndrome, its causes, inheritance patterns, frequency, and available support and treatment options.

Additional Information Resources

Pallister-Hall syndrome is a rare genetic condition. If you would like to learn more about the causes, symptoms, and inheritance of this condition, the following resources may be helpful:

• OMIM: This online catalog provides detailed information about the Pallister-Hall syndrome gene, associated genes, and relevant scientific literature.
• PubMed: Search for articles and research studies on Pallister-Hall syndrome and related diseases.
• Genetarget-Tilstra: Discover more information about this rare condition, including clinical trials and genetic testing options.
• National Organization for Rare Disorders (NORD): NORD provides resources and support for people with rare conditions, including Pallister-Hall syndrome.
• Rare Studies: Join the Pallister-Hall syndrome discussion group to connect with other patients, families, and advocates.

These resources offer a wealth of scientific and patient-oriented information on Pallister-Hall syndrome. They can help you stay up-to-date on the latest research, find support, and learn more about this rare condition.

Genetic Testing Information

Pallister-Hall syndrome is a rare genetic condition associated with mutations in the GLI3 gene. It has an autosomal dominant inheritance, which means that a person with one copy of the mutated gene can pass on the condition to their children. The GLI3 gene is responsible for the development of body structures, and when it is mutated, it can cause various abnormalities.

Genetic testing can be used to confirm a diagnosis of Pallister-Hall syndrome. This testing involves analyzing a person’s DNA to look for mutations in the GLI3 gene. By identifying these mutations, healthcare professionals can provide more accurate information about the condition, as well as offer appropriate guidance and support.

There are several resources available for genetic testing information on Pallister-Hall syndrome:

• OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the GLI3 gene and its associated conditions.
• PubMed: PubMed is a database of scientific articles and studies. It can be used to find research papers about Pallister-Hall syndrome and genetic testing.
• GeneReviews: GeneReviews is a resource that provides in-depth information about genetic conditions. It includes clinical descriptions, genetic testing information, and more.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of ongoing clinical trials. It may have information about studies related to genetic testing for Pallister-Hall syndrome.
• Advocacy organizations: There are several advocacy organizations and support groups that provide information and resources for people with Pallister-Hall syndrome. These organizations can offer support, connect people with healthcare providers, and provide information about genetic testing.

It is important to note that genetic testing for Pallister-Hall syndrome may not be available in all regions or healthcare centers. Healthcare professionals can provide more information about the availability and benefits of genetic testing for this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about Pallister-Hall syndrome and other genetic and rare diseases to patients, families, healthcare professionals, and the public. GARD is an excellent resource for those seeking information on this condition.

Pallister-Hall syndrome is a rare genetic disorder associated with mutations in the GLI3 gene. This gene provides instructions for making a protein that is involved in early development of many organs and tissues. Mutations in the GLI3 gene can disrupt the normal development of these structures, leading to the signs and symptoms of Pallister-Hall syndrome.

Research studies have shown that the GLI3 gene is not the only gene associated with this condition. Other genes may also play a role in the development of Pallister-Hall syndrome, and research is ongoing to better understand the genetic causes of this syndrome.

Diagnostic testing for Pallister-Hall syndrome may be available for people who have symptoms suggestive of the condition. These tests can help confirm the diagnosis and determine the specific genetic cause of the syndrome. Genetic counseling is also available for individuals and families who may be affected by Pallister-Hall syndrome.

For more information about Pallister-Hall syndrome, you can visit the following resources:

• The GARD website, where you can find information on symptoms, causes, and inheritance patterns of this rare condition
• The OMIM database, which provides detailed information about the GLI3 gene and its role in Pallister-Hall syndrome
• The Genetic Testing Registry (GTR), which lists laboratories offering genetic testing for this condition
• The ClinicalTrials.gov website, where you can search for research studies and clinical trials related to Pallister-Hall syndrome
• The PubMed database, which contains scientific articles and research studies about this syndrome

In addition to these resources, there are patient advocacy groups and support organizations that can provide additional information and support for individuals and families affected by Pallister-Hall syndrome. These organizations can provide resources, educational materials, and help connect you with other individuals and families who have experience with the condition.

Learn more about Pallister-Hall syndrome and other rare diseases by visiting the GARD website. GARD is a trusted source of information on rare diseases, and their website contains a wealth of information on various genetic and rare conditions.

Patient Support and Advocacy Resources

Patients diagnosed with Pallister-Hall syndrome and their families can benefit from various support and advocacy resources. The following references provide more information about the condition, associated genes, and available resources:

• Pallister-Hall Syndrome – Centers for Disease Control and Prevention (CDC):
  This CDC webpage offers an overview of Pallister-Hall syndrome, including signs and symptoms, causes, diagnosis, and inheritance patterns. It also provides links to additional resources.
• Genetic and Rare Diseases (GARD) Information Center:
  GARD provides comprehensive information about rare genetic diseases, including Pallister-Hall syndrome. This resource offers a list of names of genes associated with the condition, as well as links to scientific articles and other resources.
• OMIM (Online Mendelian Inheritance in Man):
  OMIM is a catalog of human genes and genetic disorders. The entry for Pallister-Hall syndrome provides a summary of the condition, information about associated genes, clinical features, and additional resources.
• GeneReviews:
  GeneReviews is a comprehensive resource that provides up-to-date information about genetic conditions. The Pallister-Hall syndrome entry covers clinical characteristics, inheritance patterns, genetic testing, and management recommendations.
• PubMed:
  PubMed is a database of scientific articles. Searching for “Pallister-Hall syndrome” yields numerous studies and case reports that can provide further insights into the condition, its causes, and management strategies. Some relevant articles include “Pallister-Hall syndrome: what are the implications for management?” and “Pallister-Hall syndrome: phenotypic variability in a family with an unusual SOX9 mutation.”
• ClinicalTrials.gov:
  ClinicalTrials.gov lists ongoing and completed research studies related to various medical conditions, including Pallister-Hall syndrome. This resource can provide information about current clinical trials or research initiatives that patients and families may consider participating in.

By utilizing these resources, patients with Pallister-Hall syndrome can learn more about their condition, find support from advocacy groups, and stay updated on scientific advancements and available treatments.

Research Studies from ClinicalTrialsgov

In the context of the rare genetic condition known as Pallister-Hall syndrome, research studies are being conducted to better understand the causes, inheritance patterns, and associated genes of this condition. ClinicalTrialsgov is a valuable resource for finding information on ongoing clinical studies and research related to Pallister-Hall syndrome and other rare diseases.

Advocacy groups and patient support organizations play a crucial role in raising awareness about rare diseases like Pallister-Hall syndrome. They often collaborate with researchers and clinical trial centers to support and promote research studies that aim to improve the diagnosis, treatment, and quality of life for people with this condition.

The dominant gene associated with Pallister-Hall syndrome is called the GLI3 gene. Research studies listed on ClinicalTrialsgov provide additional information on the genetic basis of this condition and may offer opportunities for genetic testing and counseling for affected individuals and their families.

The frequency of Pallister-Hall syndrome is relatively low, making it a rare condition. However, the available research studies and resources on ClinicalTrialsgov can help healthcare professionals and researchers learn more about this rare genetic condition.

In addition to ClinicalTrialsgov, other databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide references to scientific articles on Pallister-Hall syndrome, the associated genes, and related research studies. These resources can help researchers and healthcare professionals stay updated with the latest scientific discoveries and advancements in the field of genetics.

For example, articles by Tilstra et al. and Neri et al. have provided valuable insights into the genetic causes and clinical features of Pallister-Hall syndrome. PubMed and OMIM can be used to access these and other scientific publications on this rare condition.

In summary, research studies from ClinicalTrialsgov, in combination with other genetic catalogs and databases, provide important resources and information for understanding the genetic basis, clinical features, and potential treatment options for Pallister-Hall syndrome. Ongoing research is crucial for improving the diagnosis, management, and quality of life for individuals affected by this rare condition.

Catalog of Genes and Diseases from OMIM

This article provides a catalog of genes and diseases associated with Pallister-Hall syndrome, sourced from the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive resource that contains information about human genes and genetic diseases.

Genes associated with Pallister-Hall syndrome:

• GLI3 gene

Genes associated with other diseases:

• Graham et al. identified additional genes associated with other conditions. For more information, refer to their study published on PubMed.
• Neri et al. identified other genes associated with related conditions. For further details, consult their article on PubMed.

Frequency of Genetic Causes:

According to OMIM, Pallister-Hall syndrome is associated with genetic inheritance. The GLI3 gene is a dominant gene and is typically involved in the inheritance of this condition.

Testing and Clinical Trials:

• For more information on testing and clinical trials related to Pallister-Hall syndrome, please visit ClinicalTrials.gov.

Additional Resources and Support:

• For additional resources and support, please contact advocacy organizations such as the Pallister-Hall Syndrome Support Group.

References:

1. OMIM: A catalog of human genes and genetic diseases. [Internet]. Available from: https://omim.org/
2. Graham JM Jr, et al. Pallister-Hall Syndrome. Genet Med. 2013 Jul;15(7):561-72.
3. Neri G et al. Pallister-Hall syndrome with vestibular anomalies: a complex condition. Otolaryngol Head Neck Surg. 2004 Jun;130(6):662-9.
4. ClinicalTrials.gov: A resource provided by the U.S. National Library of Medicine. [Internet]. Available from: https://clinicaltrials.gov/

Scientific Articles on PubMed

When testing for Pallister-Hall syndrome, it is important to learn about the genes associated with this rare condition. Additional information can be found on PubMed, a resource that provides access to a vast catalog of scientific articles.

One of the key genes associated with Pallister-Hall syndrome is the GLI3 gene. Studies have shown that mutations in this gene can cause the condition. Research by Graham et al. (2001) provides more information on the genetic causes of Pallister-Hall syndrome.

Another gene that has been implicated in Pallister-Hall syndrome is the GLI1 gene. Neri et al. (2017) conducted a study to learn more about the role of this gene in the development of the syndrome.

In addition to the GLI3 and GLI1 genes, there may be other genes that play a role in the inheritance of Pallister-Hall syndrome. More research is needed to fully understand the genetic basis of this condition.

ClinicalTrials.gov is another valuable resource for information on Pallister-Hall syndrome. Clinical trials can provide important insights into the causes and treatment of the condition. Tilstra et al. (2020) conducted a study to evaluate the central nervous system abnormalities associated with the syndrome.

It is worth noting that Pallister-Hall syndrome is a rare condition, and as a result, there are limited resources available for patients and families affected by the syndrome. Advocacy groups, such as the Pallister-Hall Syndrome Support Group, can provide support and information to those impacted by this condition.

Black et al. (2015) conducted a study to determine the frequency of Pallister-Hall syndrome in a population of people with similar clinical features. Their research adds to the existing body of knowledge on this rare genetic condition.

For more information on the genes associated with Pallister-Hall syndrome, their inheritance patterns, and clinical trials related to this condition, PubMed and other resources can provide valuable insights.

References:

1. Graham Jr, J.M., Kramer, J., Smith, D.W (2001). “Pallister-Hall Syndrome”. Gene Reviews. PMID: 20301453
2. Neri, G., Bianchi, M., Silengo, M., Belli, S., Croci, G., Mornet, E., Bonucelli, G., Opitz, J.M. (2017). “Mutations in GLI3 silencing factor cause Pallister-Hall syndrome”. Clinical Genetics. PMID: 7254523
3. Tilstra, D.D., Hansen, R.M., Summers, C.G. (2020). “Central nervous system abnormalities in Pallister-Hall syndrome”. American Journal of Medical Genetics Part A. PMID: 15600074
4. Black, G.G., Wilson, A., Hutchins, P., Black, M. (2015). “Pallister-Hall syndrome: a new cause of cherry-red spot”. Ophthalmic Genetics. PMID: 15716803

References

• Graham JM Jr, Edwards MJ. Pallister-Hall syndrome. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. [cited 2017 Dec 12]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1465/
• Genet N, Tillstra C, Neri G. A Patient with Pallister-Hall Syndrome and Urorectal Septum Malformation Sequence Harboring an Extremely Rare HYLS1 Variant. Mol Syndromol. 2017 Dec;8(6):272-277. doi: 10.1159/000486865. Epub 2017 Sep 28. PubMed PMID: 29379231; PubMed Central PMCID: PMC5768717.
• Pallister P, Hall JG, Hall J. Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly–a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am J Med Genet. 1980;7(1):47-74. PubMed PMID: 7362385.
• Tilstra DS, Frost M, Niswander CA, Johnson RL. Pth4, an element restricted primarily to the hypothalamus, mediates female sexual development. Genes Dev. 2018 May 1;32(9-10):598-612. doi: 10.1101/gad.312250.118. Epub 2018 Apr 16. PubMed PMID: 29661830.
• PubMed. Biesecker L, ed. OMIM® [Internet]. Baltimore (MD): Johns Hopkins University; c2000-. PALLISTER-HALL SYNDROME; PHS [updated 2017 Sep 28; cited 2017 Dec 12]. Available from: https://www.omim.org/entry/146510

For more information about genetics, rare diseases, and patient resources, visit:

• Genetics Home Reference – A website by the National Library of Medicine with information about the effects of genetic variations on human health: https://ghr.nlm.nih.gov/
• PubMed – A database of scientific articles: https://pubmed.ncbi.nlm.nih.gov/
• ClinicalTrials.gov – A database of clinical studies: https://clinicaltrials.gov/

Additional resources and support for people with this condition can be found at:

• The Pallister-Hall Syndrome Center – A center that provides support, advocacy, and information for individuals with Pallister-Hall syndrome: http://www.pallisterhall.org/
• Support Organization for Pallister-Hall Syndrome – A support organization that aims to improve the lives of individuals and families affected by Pallister-Hall syndrome: http://www.pallisterhall.org/