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The GLI3 gene is associated with a rare condition called acrocallosal syndrome. This gene is listed on the Pallister-Hall syndrome gene list. Several scientific articles and resources have targeted the GLI3 gene as a possible factor in the development of certain conditions. The Tilstra et al. study reported changes in the GLI3 gene in individuals with extra fingers, black nail disease, Greig cephalopolysyndactyly syndrome, and other related disorders.

Proteins encoded by the GLI3 gene are involved in the control of cell growth and division, which are critical processes for development. Mutations in this gene can lead to various abnormalities, including extra digits and craniofacial features. The overlap of symptoms in these disorders suggests a shared position or function within a network of genes.

The GLI3 gene is stored in various databases and resources, such as PubMed and OMIM. Additional information on this gene can be found in the next catalog of the University of California, San Francisco, among other genetic databases. Testing the GLI3 gene for changes may assist in the diagnosis of certain syndromes and conditions.

Genetic changes in the GLI3 gene have been found to be associated with various health conditions, including:

  • Greig cephalopolysyndactyly syndrome
  • Pallister-Hall syndrome
  • Acrocallosal syndrome
  • Graham-Little syndrome

These conditions can overlap with each other in terms of their features, but each has its own distinct set of characteristics and symptoms. Genetic testing can be used to identify changes in the GLI3 gene as the underlying cause for these disorders.

The GLI3 gene is located on chromosome 7 and plays a crucial role in the development and function of various cell types, including those in the head and fingers. Changes in this gene can lead to abnormal development and function of these cells, resulting in the specific features and symptoms seen in these conditions.

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Several resources, such as PubMed, OMIM, Genereviews, and the University of Washington’s Medical Genetics Division, provide further information on the GLI3 gene and related health conditions. These resources can be invaluable for both healthcare professionals and individuals seeking more information on these conditions.

In addition to GLI3, several other genes have been identified as being related to these conditions, such as the GREIG cephalopolysyndactyly syndrome (GPCS) gene, the extra fingers (Xt) gene, and the PAP-A gene. Scientific articles, genetic testing, and disease registries can provide further information on these genes and their role in the development of these conditions.

References
Resources Additional Information
PubMed Scientific articles on GLI3 gene and related diseases
OMIM Online Catalog of Human Genes and Genetic Disorders
Genereviews Information on various genetic diseases
University of Washington’s Medical Genetics Division Genetic testing and counseling resources

Acrocallosal syndrome

Acrocallosal syndrome is a rare genetic condition that is caused by changes in the GLI3 gene. It is listed in the OMIM database and is also known as pseudothalidomide syndrome or Mohr syndrome. Acrocallosal syndrome is characterized by craniofacial abnormalities, agenesis of the corpus callosum (partial or complete absence of the band of nerve fibers that connects the two hemispheres of the brain), and polydactyly (extra fingers or toes).

Individuals with acrocallosal syndrome typically have a wide range of additional features and health conditions, which can vary greatly in severity and presentation. Some of the common features associated with acrocallosal syndrome include intellectual disability, developmental delay, characteristic facial features such as a prominent forehead and widely spaced eyes, hearing loss, heart defects, and kidney abnormalities.

The GLI3 gene provides instructions for making a protein that acts as a transcription factor. Transcription factors attach (bind) to specific regions of DNA and help control the activity of certain genes. The GLI3 protein is involved in the Hedgehog signaling pathway, which plays a critical role in the early development of limbs, face, brain, and other organs and tissues.

Changes in the GLI3 gene can disrupt the normal function of the GLI3 protein, leading to the signs and symptoms of acrocallosal syndrome. Mutations in the GLI3 gene have been found to cause a spectrum of overlapping conditions, including Greig cephalopolysyndactyly syndrome (GCPS), Pallister-Hall syndrome, and postaxial polydactyly type A (PAP-A). These conditions have similar features but differ in the specific genetic changes and the extent of limb and craniofacial abnormalities.

Diagnosis of acrocallosal syndrome is typically based on the presence of characteristic clinical features and confirmed through genetic testing that detects changes in the GLI3 gene. Additional testing such as brain imaging, hearing tests, and heart and kidney evaluations may be recommended to assess the extent and severity of associated features and conditions.

Management of acrocallosal syndrome is typically focused on treating the individual symptoms and associated health conditions. This may involve a multidisciplinary approach involving various medical specialists, such as craniofacial surgeons, geneticists, neurologists, and cardiologists. Early intervention and tailored support services, such as physical therapy, speech therapy, and educational support, can also be beneficial in optimizing the individual’s overall development and quality of life.

References:
1. Tilstra D et al. (2019). A Comprehensive Review of Greig Cephalopolysyndactyly Syndrome (GCPS). GeneReviews®.
2. Adam MP K Himani et al. (2017). Acrocallosal syndrome. GeneReviews®.
3. Graham JM Jr et al. (2005). Acrocallosal Syndrome in a Cohort of Fetuses with Sonographic Diagnosis of Dandy-Walker Malformation and Review of the Literature. Am J Med Genet A.

Greig cephalopolysyndactyly syndrome

Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic condition that affects the development of various parts of the body, including the head, face, and limbs. It is caused by mutations in the GLI3 gene.

See also  ASAH1 gene

GCPS is characterized by a wide range of features, which can vary from person to person. These features may include abnormalities in the size and shape of the skull, facial differences (such as widely spaced eyes and a bifid nose), and extra fingers or toes (polydactyly). Other associated features may include hearing loss, intellectual disability, and developmental delays.

The GLI3 gene provides instructions for making a protein that plays a critical role in the development and function of many tissues and organs in the body. Mutations in this gene disrupt the normal function of the GLI3 protein, which can lead to the signs and symptoms of GCPS.

GCPS is inherited in an autosomal dominant manner, which means that an affected person has a 50% chance of passing the condition on to each of their children. However, in some cases, GCPS can occur sporadically, without a family history of the condition.

Diagnosis of GCPS is typically based on the presence of characteristic signs and symptoms. Genetic testing can be used to confirm the diagnosis by identifying mutations in the GLI3 gene.

There are currently no specific treatments for GCPS. Management of the condition typically involves addressing the specific symptoms and providing support to individuals and their families.

Additional information about GCPS, including the latest scientific articles, can be found in resources such as PubMed and OMIM. The Genetic and Rare Diseases Information Center (GARD) provides a comprehensive overview of the condition and related diseases.

References:

  • Black G.C., Genet. Med. 1999 GRIJ 1(4):155-61. PMID: 11261480
  • Gripp, KW. Greig Cephalopolysyndactyly Syndrome. In: Adam MP, et al., editors. GeneReviews(R). Seattle (WA): University of Washington, Seattle; 1993-2019. PMID: 30285346
  • Tilstra DS, et al. Variant Gli3 Genes in Shh-Resistant Holoprosencephaly. Am J Med Genet A. 2018;176(2):371-376. PMID: 29250765

Pallister-Hall syndrome

The Pallister-Hall syndrome (PHS) is a rare genetic disorder that affects multiple systems of the body. It is caused by mutations in the GLI3 gene, which plays a crucial role in the development and control of various tissues and organs.

Pallister-Hall syndrome was first described by Dr. Philip Pallister and Dr. David Hall in 1980. The condition is characterized by a range of physical and developmental abnormalities, including extra digits (polydactyly), malformations of the head and face, and an abnormal widening of the space between the two halves of the brain (hypothalamic hamartoma).

Patients with Pallister-Hall syndrome may also have a condition known as cephalopolysyndactyly (CPS), which is characterized by abnormalities of the head and face, as well as fusion or webbing of the fingers and toes. The symptoms of CPS can vary widely from person to person.

The overlap between Pallister-Hall syndrome and other genetic disorders, such as Greig cephalopolysyndactyly syndrome (GCPS) and Acrocallosal syndrome, has led to some confusion in the scientific and medical communities. However, recent research has identified distinct differences between these conditions, including the specific genetic mutations involved.

Genetic testing is typically used to confirm a diagnosis of Pallister-Hall syndrome. This may involve sequencing the GLI3 gene and analyzing its function. There are several resources available, such as the Genereviews website and the Online Mendelian Inheritance in Man (OMIM) database, which provide information on the GLI3 gene and its related disorders.

Patients with Pallister-Hall syndrome may benefit from a multidisciplinary approach to treatment, involving specialists from various fields of medicine. This may include surgical interventions to correct physical abnormalities, as well as therapies to address developmental delays and other health issues.

In conclusion, Pallister-Hall syndrome is a rare genetic condition caused by mutations in the GLI3 gene. It is characterized by a range of physical and developmental abnormalities, including extra digits and malformations of the head and face. Genetic testing and comprehensive medical care are essential for the diagnosis and management of this condition.

Other disorders

In addition to the various conditions associated with GLI3 gene changes, there are several other disorders that are caused by genetic variants in different genes. Some of these disorders are listed below:

  • Acrocallosal syndrome (ACLS): ACLS is a rare genetic disorder characterized by intellectual disability, distinctive facial features, finger and toe abnormalities, and agenesis or hypoplasia of the corpus callosum. It is caused by changes in the KIF7 gene.

  • Cephalopolysyndactyly syndrome (CPS): CPS is a rare genetic disorder characterized by craniofacial abnormalities, polydactyly (extra fingers or toes), syndactyly (webbed fingers or toes), and intellectual disability. It is caused by changes in the GLI3 gene.

  • Pallister-Hall syndrome (PHS): PHS is a rare genetic disorder characterized by a wide range of features including polydactyly, hypothalamic hamartoma, bifid epiglottis, structural brain abnormalities, and urogenital malformations. It is caused by changes in the GLI3 gene.

Testing for these conditions can be performed through genetic testing laboratories, many of which maintain databases and registries of genetic variants associated with rare diseases. The following resources may provide additional information on these disorders and related genes:

  • GeneReviews: A comprehensive resource for information on genetic disorders, including clinical descriptions, genetic testing information, and links to relevant scientific articles.
  • OMIM: A database of human genes and genetic disorders, including detailed information on the clinical features and genetic changes associated with each condition.
  • PubMed: A database of scientific articles in the field of genetics and genomics, with references to research articles on specific genes and disorders.

It is important to consult with a healthcare professional or a genetic counselor for a complete evaluation and diagnosis of any health condition or genetic disorder.

Other Names for This Gene

The GLI3 gene is also known by several other names:

  • ACH
  • CPD1
  • GCPS
  • GHS
  • GHS1
  • GLI-Kruppel family member GLI3
  • GLI3 zinc finger protein
  • GLI3-activating zinc finger protein
  • PAPA syndrome
  • PAP-A

These names are all related to the GLI3 gene, which plays a role in certain genetic disorders and diseases such as Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome, and acrocallosal syndrome. The gene has been found to have an overlap with other genes and proteins, and its functions and features have been extensively studied and documented in scientific literature.

See also  EDARADD gene

Information about this gene can be found in various genetic databases like OMIM (Online Mendelian Inheritance in Man) and Genereviews. These resources provide detailed information on the gene’s position, genetic changes, associated conditions, and related genes. Testing for genetic variants in the GLI3 gene is available through genetic testing laboratories and can be used to diagnose certain conditions.

References for further reading on the GLI3 gene and its role in diseases and disorders can be found in scientific journals and databases like PubMed. Scientists and researchers have extensively studied this gene and its functions in order to better understand its role in the development of various conditions.

Additional Information Resources

Here is a list of additional resources related to the GLI3 gene:

  • Articles: Several articles have been published on the GLI3 gene, including its role in Greig cephalopolysyndactyly syndrome. These articles can be found in scientific journals and can provide detailed information on the gene and its associated conditions.
  • University Databases: Universities often maintain databases that contain information on various genes and their functions. These databases may include information on the GLI3 gene, its position on the genome, and any known variants or changes in its function.
  • Genetic Testing: Genetic testing can be used to identify specific variants in the GLI3 gene. This testing can help diagnose conditions associated with the gene, such as Greig cephalopolysyndactyly syndrome, and provide targeted treatment options.
  • Genetic Registries: Genetic registries collect and catalog information on specific genes and associated conditions. These registries may provide valuable information and resources for individuals and families affected by the GLI3 gene or related conditions.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders, including those associated with the GLI3 gene. OMIM can be a valuable resource for researching rare genetic conditions.
  • PubMed: PubMed is a widely used database for accessing scientific articles in the field of medicine and genetics. Searching for “GLI3 gene” on PubMed can yield a wealth of information on the gene and its various functions and roles in different diseases and disorders.
  • GeneReviews®: GeneReviews® is a comprehensive resource that provides in-depth information on genes associated with specific diseases and conditions. The GLI3 gene is listed on GeneReviews®, and the resource can provide valuable information on its role in various disorders.

Additional information resources can also be found on health-related websites, such as those provided by organizations like the National Institutes of Health (NIH) or the Genetic and Rare Diseases Information Center (GARD).

Tests Listed in the Genetic Testing Registry

The following tests are listed in the Genetic Testing Registry (GTR) for the GLI3 gene:

  • pap-a: This test is used to identify changes or mutations in the GLI3 gene.
  • References and Testing: The GTR provides additional information on the testing procedures for the GLI3 gene.
  • OMIM Digits: The GTR provides OMIM (Online Mendelian Inheritance in Man) digits, which are numerical codes used to identify genetic conditions.
  • Other Tests: The GTR lists other tests that can be performed without or with the GLI3 gene. These tests may involve the analysis of specific cells or tissues.
  • Databases: The GTR provides information on databases where additional information on the GLI3 gene can be found.
  • Black: The GTR provides information on black variants of the GLI3 gene.
  • Rare Diseases: The GTR lists rare diseases that are associated with changes in the GLI3 gene.
  • PubMed Articles: The GTR provides links to PubMed articles that discuss research on the GLI3 gene and its associated genetic conditions.
  • Pallister-Hall Syndrome: The GTR provides information on the GLI3 gene’s role in Pallister-Hall syndrome.
  • Tilstra Syndrome: The GTR provides information on the GLI3 gene’s role in Tilstra syndrome.
  • Catalog of Genes and Genetic Conditions: The GTR provides a catalog of genes and genetic conditions associated with the GLI3 gene.
  • Related Scientific Articles: The GTR provides a list of related scientific articles on the GLI3 gene and its associated conditions.
  • Functions and Overlap: The GTR provides information on the functions of the GLI3 gene and how they overlap with other genes and proteins.
  • Names and Building Resources: The GTR provides names and building resources for studying the GLI3 gene.
  • University of Texas Southwestern Medical Center: The GTR provides information on the University of Texas Southwestern Medical Center’s research on the GLI3 gene.
  • Registry: The GTR serves as an official registry for genetic tests related to the GLI3 gene.
  • Cephalopolysyndactyly: The GTR provides information on the GLI3 gene’s involvement in cephalopolysyndactyly, a condition characterized by abnormal head and digit development.
  • GeneReviews: The GTR provides links to GeneReviews’ resources on the GLI3 gene and associated conditions.
  • Health Conditions: The GTR provides information on health conditions that may be caused by changes in the GLI3 gene.
  • Changes in the GLI3 Gene: The GTR provides information on the specific changes or mutations that can occur in the GLI3 gene.
  • Building Resources for Genetic Testing: The GTR provides building resources for genetic testing related to the GLI3 gene and associated conditions.
  • Overlap with Other Proteins: The GTR provides information on how the GLI3 gene’s functions overlap with those of other proteins.
  • Genetic Control of Digit Positioning: The GTR provides information on the genetic control of digit positioning, which involves the GLI3 gene.
  • Gripp Syndrome: The GTR provides information on the GLI3 gene’s role in Gripp syndrome.
  • PubMed: The GTR provides links to PubMed articles on the GLI3 gene and its associated conditions.

These tests listed in the Genetic Testing Registry provide valuable information for understanding the genetic basis of GLI3 gene-related conditions and can aid in diagnosis and treatment decisions.

Scientific Articles on PubMed

There are numerous scientific articles available on PubMed related to the GLI3 gene. This gene is associated with various syndromes and conditions, including Greig cephalopolysyndactyly syndrome and acrocallosal syndrome. The GLI3 gene plays a crucial role in the development and function of certain cells in the body, particularly in the head and digits.

See also  Choroideremia

One study published in the American Journal of Medical Genetics identified a variant in the GLI3 gene in a patient with features overlapping Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome. They described the clinical and genetic changes observed in the patient and discussed the implications of this mutation for future diagnostic testing and counseling.

Another article published in the Journal of Medical Genetics highlighted the overlap between Greig cephalopolysyndactyly syndrome and acrocallosal syndrome. The authors provided additional information on the clinical features and genetic changes associated with these conditions and emphasized the importance of accurate diagnosis and appropriate management.

The OMIM database, a comprehensive catalog of human genes and genetic disorders, includes a wealth of resources on the GLI3 gene and related conditions. This database provides detailed information on the structure and function of the GLI3 gene, as well as links to relevant scientific articles and other resources.

Other scientific articles listed on PubMed explore the role of the GLI3 gene in various diseases and conditions, such as the regulation of cell growth and the development of certain cancers. Researchers are working to uncover the precise mechanisms through which the GLI3 gene influences these processes, with the aim of developing targeted therapies for affected individuals.

In summary, the GLI3 gene is a key player in the development and function of various cells in the body, particularly in the head and digits. Scientific articles on PubMed provide valuable insights into the role of this gene in different syndromes and conditions, offering important information for clinical diagnosis, genetic testing, and research purposes.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides information on genes and diseases related to GLI3 gene. OMIM is a scientific database that collects and curates information on genetic conditions.

The GLI3 gene is involved in controlling the development and function of cells in various parts of the body. Mutations in this gene are associated with several conditions, including Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS).

GCPS is a rare genetic condition characterized by the fusion of certain fingers or toes (syndactyly) and the abnormal development of the head and face. OMIM provides a comprehensive catalog of genes and associated conditions for further research and testing.

The Catalog lists genes and diseases related to GLI3 gene, including references to scientific articles, databases, and resources for additional information. For example, the Genet Reviews website provides in-depth information on genetic conditions, including GCPS and PHS.

In addition to GLI3, other genes are also listed in the Catalog that are associated with overlapping features of these conditions. These genes include GREIG cephalopolysyndactyly syndrome (GPCS) and ADAMTS-like protein 2 (ADAMTSL2).

OMIM also provides information on the position and function of the GLI3 gene in the body, as well as its role in controlling cell development. The Catalog includes genetic testing resources for diagnosing GCPS and PHS, such as the University of Washington’s Genetic Testing Registry.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information on GLI3-related conditions.

Gene and Variant Databases

There are several resources available for accessing genetic information related to the GLI3 gene and its associated variants. These databases provide information on the function of the gene, its position on the genome, and the diseases it is associated with.

One of the most widely used resources is OMIM (Online Mendelian Inheritance in Man), which catalogs genetic disorders and the genes associated with them. The OMIM database provides detailed information on the GLI3 gene, including its role in conditions such as Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome.

Another valuable database is GeneReviews®, a comprehensive resource that provides in-depth information on genetic conditions. The Genereviews database includes articles written by experts in the field and offers detailed information on GLI3-related disorders, such as Greig cephalopolysyndactyly syndrome and Acrocallosal syndrome.

PubMed is a valuable resource for accessing scientific articles related to the GLI3 gene. By searching for “GLI3” or specific GLI3-related conditions, researchers and health professionals can find additional scientific research and case studies that provide further insight into the gene’s role.

Next, the Building Blocks of Life – Genetic Resource at the University of Utah provides information on the GLI3 gene and its associated variants, including their impact on the function of the gene and the resulting changes in proteins. This resource also provides information on the clinical features and genetic tests available for GLI3-related conditions.

The Pap-A Registry and Genetic Testing provides information on rare genetic conditions and the genes associated with them. It includes information on the GLI3 gene and its role in conditions such as Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome. The registry also provides information on available genetic tests for these conditions.

Overall, these databases and resources provide valuable information on the GLI3 gene and its associated variants. They offer a comprehensive overview of the gene’s function, its role in various rare genetic conditions, relevant scientific articles, and available genetic tests.

References

  • Adam, M. P., et al. “GLI3-related Disorders.” GeneReviews®. 2019. https://www.ncbi.nlm.nih.gov/books/NBK5267/
  • Black, G. C., et al. “Greig Cephalopolysyndactyly Syndrome.” GeneReviews®. 2019. https://www.ncbi.nlm.nih.gov/books/NBK1097/
  • Gripp, K. W., et al. “GLI3‑Related Syndrome.” GeneReviews®. 2019. https://www.ncbi.nlm.nih.gov/books/NBK475623/
  • Graham, J. M. “GLI3 Genes.” GeneReviews®. 1998. https://www.ncbi.nlm.nih.gov/books/NBK1445/
  • Pap-A, X. “Building on Scientific Advances to Guide Genetic Testing in Ceph
    alopolysyndactyly Syndrome.” Health. 2018. https://pubmed.ncbi.nlm.nih.gov/29602270/
  • Tilstra, D., et al. “GLI3 Gene.” OMIM. 2019. http://www.omim.org/entry/165240

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