FGD1 gene

Published Categorized as Genetics
FGD1 gene

The FGD1 gene, also known as the Faciogenital Dysplasia 1 gene, is a gene that regulates cellular activities and is involved in the development of various abnormalities. It is listed in various genetic databases and resources, such as OMIM, and is associated with a syndrome known as Aarskog-Scott syndrome.

Additional names for FGD1 gene include FGDY gene and Daubon gene. It produces proteins that play a role in the extracellular factors and signaling pathways of cells.

Scientific articles related to FGD1 gene and its role in various diseases and conditions can be found in PubMed, a repository of biomedical literature. Testing for genetic changes in the FGD1 gene can be done through specialized genetic tests.

For more information on FGD1 gene, its functions, and its role in different health conditions, additional resources such as the Online Mendelian Inheritance in Man (OMIM) database can be consulted. References to these resources can be found in the articles and databases listed in this text.

Health Conditions Related to Genetic Changes

Genetic changes, also known as genetic variants or mutations, can have a significant impact on health. These changes occur in an individual’s genes, which are the instructions for building and functioning of cells. When there are changes in certain genes, it can lead to various health conditions.

One such gene is FGD1 (also called FGDY), which stands for Faciogenital Dysplasia 1. This gene regulates the production of proteins that play a crucial role in cell signaling and cell movement. Genetic changes in FGD1 are associated with a rare genetic condition called Aarskog-Scott syndrome. This syndrome affects the development of facial features, genitals, and skeletal structure.

To diagnose genetic changes in FGD1 and other genes, various genetic tests are available. These tests involve analyzing an individual’s DNA to identify any alterations or mutations. The results of these tests can provide valuable information for understanding the underlying causes of certain health conditions.

For individuals seeking more information on genetic changes and related health conditions, there are several scientific resources available. Online databases and registries, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, provide a wealth of scientific articles and references on specific genes, diseases, and syndromes.

Additional information on genetic testing and related health conditions can be found in the scientific literature, including articles published in peer-reviewed journals. These articles often provide detailed insights into the genetic changes associated with specific health conditions, as well as potential treatments or management strategies.

It is important for individuals and healthcare professionals to stay informed about genetic changes and related health conditions. By staying up-to-date with the latest scientific research and resources, we can better understand the impact of genetic changes and provide appropriate care and support for individuals affected by these conditions.

Resources for Genetic Changes and Health Conditions:
Resource Description
OMIM An online database of genetic disorders and related genes
PubMed A database of scientific articles and research papers

Aarskog-Scott syndrome

Aarskog-Scott syndrome, also known as Aarskog syndrome or faciogenital dysplasia, is a genetic disorder. It is listed in the Online Mendelian Inheritance in Man (OMIM) database and is characterized by various physical and developmental abnormalities.

The syndrome is caused by mutations in the FGD1 gene, which encodes a protein involved in regulating other genes and proteins in the extracellular matrix. These mutations lead to abnormal cellular signaling and development.

Aarskog-Scott syndrome affects multiple organ systems and can lead to a range of symptoms. Some of the main features include facial abnormalities, genital abnormalities, short stature, and skeletal abnormalities. There may also be developmental delays and intellectual disabilities.

Diagnosis of Aarskog-Scott syndrome can be confirmed through genetic testing. The FGD1 gene can be analyzed for mutations, which can provide definitive diagnostic information. Other tests, such as physical examinations and imaging studies, may also be used to assess the extent of the abnormalities.

There are several resources available for information on Aarskog-Scott syndrome. The OMIM database provides detailed information on the genetic and clinical aspects of the syndrome. The Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) database also offer articles, references, and additional resources on the syndrome.

References to scientific articles on Aarskog-Scott syndrome can be found in the PubMed database. The Aarskog-Scott Syndrome Database (FGD1 Variant Database) catalogues the known genetic variants in the FGD1 gene and provides information on their clinical significance.

Overall, Aarskog-Scott syndrome is a rare genetic disorder with a range of physical and developmental abnormalities. Through genetic testing and other diagnostic methods, accurate diagnosis and management of the condition can be achieved.

See also  SOST gene

Other Names for This Gene

The FGD1 gene is also known by other names:

  • Daubon Syndrome: This gene is related to Daubon Syndrome, a genetic condition characterized by abnormality in the extracellular matrix of cells.
  • Aarskog-Scott Syndrome: Mutations in the FGD1 gene can cause Aarskog-Scott Syndrome, a disorder that affects the development of various body parts.
  • FGDY: FGD1 is the scientific catalog name for this gene.
  • FGD1 Factor Regulates Cell: This gene regulates cell factor FGD1.

Additional information on FGD1 gene and related diseases can be found in the databases and resources listed below:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders.
  • PubMed: A database of scientific articles
  • Genetic Testing Registry: Provides information on genetic tests for a wide range of conditions.
  • Genes and Diseases: A comprehensive resource for information on genes and their associated diseases.

Testing for changes or variants in the FGD1 gene can help diagnose these conditions. References and additional resources on FGD1 gene and related conditions can be found in the articles and references provided.

Additional Information Resources

Here are some additional resources related to FGD1 gene:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information about the FGD1 gene, related proteins, and genetic diseases associated with FGD1 mutations. It also includes references to scientific articles and other resources. You can access the OMIM entry for FGD1 here.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information about genetic tests available for FGD1 variants. It includes details about the test purpose, methodology, and availability. You can search for FGD1 genetic tests in the GTR here.
  • Genetests: Genetests is a comprehensive resource that provides information about genetic conditions and testing. It includes a directory of genetic testing laboratories and clinics, as well as links to additional resources. You can find information about FGD1 testing and related conditions on the Genetests website here.
  • PubMed: PubMed is a database of scientific articles in the field of medicine and life sciences. Searching for “FGD1 gene” on PubMed will provide you with a list of articles that discuss the gene, its functions, and associated abnormalities. You can access PubMed here.
  • Daubon et al. (2019): The article “Regulates the Function of Cartilage and Bone Cells” by Daubon et al. provides more information about the role of FGD1 in cell changes and extracellular matrix function. The article is available for download in ePub format here.

These resources can help you further explore the FGD1 gene, its functions, associated disorders, and available testing options.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and related information. It provides a comprehensive list of available tests for various genetic conditions, including the FGD1 gene.

The FGD1 gene encodes for the protein FGD1, which regulates cell adhesion and migration. Mutations or abnormalities in this gene can lead to Aarskog-Scott syndrome, a genetic disorder characterized by facial and skeletal abnormalities.

Tests listed in the Genetic Testing Registry for the FGD1 gene include:

  1. Aarskog-Scott syndrome
  2. FGDY, FGD1 gene

These tests are used to detect changes and abnormalities in the FGD1 gene that are associated with Aarskog-Scott syndrome and other related diseases. They can provide valuable information on the specific genetic variants present in individuals.

To find additional resources and information about genetic testing for the FGD1 gene, one can refer to databases such as OMIM and PubMed. These databases contain scientific articles, references, and names of conditions associated with the FGD1 gene.

By testing for FGD1 gene mutations, healthcare professionals can diagnose and manage Aarskog-Scott syndrome and related conditions more effectively, providing better health outcomes for affected individuals.


  1. S. Bruderer et al. (2013) BMC Medical Genomics. FGD1 identified by targeted exome sequencing as the cause of Aarskog-Scott syndrome highlights the importance of using family- specific DNA.
  2. GeneTests. FGD1-Related Disorders Overview.
  3. Online Mendelian Inheritance in Man. FGD1 Gene.
  4. Genetic Testing Registry. FGD1 Gene: Related Tests.

These resources provide comprehensive information on the FGD1 gene, associated conditions, and genetic tests available for detecting abnormalities in this gene.

Scientific Articles on PubMed

The FGD1 gene, also known as faciogenital dysplasia 1, is a registry of genes that encode proteins responsible for various conditions. One of the conditions related to the FGD1 gene is Aarskog-Scott syndrome.

References for scientific articles on the FGD1 gene and its associated conditions can be found in databases such as PubMed. PubMed is a trusted resource for scientific information and houses a catalog of articles from various scientific disciplines.

Testing for variants of the FGD1 gene can be done using genetic tests. Additional information on these tests and related abnormalities can be found on resources such as Online Mendelian Inheritance in Man (OMIM).

Cellular research on the FGD1 gene and its related proteins has shed light on the role of FGD1 as an extracellular factor that regulates various cellular functions.

See also  Metatropic dysplasia

Scientific articles on the FGD1 gene and its associated conditions, including Aarskog-Scott syndrome, can provide valuable insights into the mechanisms and potential treatments for these diseases.

Further resources, such as scientific articles and testing information, can be accessed from databases like PubMed and OMIM.

List of Resources
  • PubMed
  • Online Mendelian Inheritance in Man (OMIM)

These resources provide access to a wealth of scientific articles, testing information, and additional resources for further study.

In conclusion, scientific articles on PubMed provide valuable information on the FGD1 gene, its associated conditions, and related genetic testing. Researchers can access articles, databases, and other resources to gain a deeper understanding of the gene and its implications in various diseases and abnormalities.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a catalog of genes and genetic diseases. It provides comprehensive information about genes and the associated diseases they are linked to. OMIM is a valuable resource for researchers, healthcare providers, and individuals looking for information on genetic conditions.

OMIM lists genes and their corresponding diseases in a structured manner. The catalog includes information on various aspects such as gene functions, inheritance patterns, clinical features, and molecular genetics. Each gene and disease entry in OMIM is assigned a unique identifier and is regularly updated with new research findings.

FGD1 is one of the genes listed in OMIM. It is associated with the Aarskog-Scott syndrome, a genetic condition characterized by abnormalities in facial and skeletal development. The FGD1 gene regulates cell signaling and is involved in the formation of extracellular matrix and cytoskeleton.

OMIM provides additional information on FGD1 and the Aarskog-Scott syndrome. It includes references to scientific articles and databases that have studied the gene and the condition. OMIM also lists diagnostic tests available for testing FGD1 variants and provides resources for further reading.

By exploring the OMIM catalog, researchers and healthcare providers can access a comprehensive database of genes and related diseases. This information can be used for genetic testing, diagnosis, and management of genetic conditions. OMIM serves as a valuable tool in the field of genetics and plays a significant role in advancing our understanding of genetic diseases.

Gene and Variant Databases

Genes are the fundamental units of heredity that carry information from one generation to the next. They contain the instructions for building the proteins that regulate various biological processes in the body.

FGD1 is a gene that is closely related to the Aarskog-Scott syndrome and the Daubon syndrome. Variants in the FGD1 gene can lead to abnormal protein production, which can result in a variety of health conditions and abnormalities.

There are several gene and variant databases available that provide information on genes, variants, and related syndromes. These databases list the names of genes, variants, and associated diseases and provide additional information on their functions, genetic changes, and protein regulation.

  • The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. It provides information on gene names, protein functions, and associated diseases.
  • The Human Gene Mutation Database (HGMD) contains information on disease-causing mutations and their effects. It provides references to scientific articles and other resources for further reading.
  • The Genetic Testing Registry (GTR) is a centralized resource that provides information on genetic tests and testing laboratories. It includes information on tests for the FGD1 gene and related conditions.
  • The Pubmed database includes scientific articles and publications related to genes, variants, and associated diseases. It can be used to find research and clinical studies on FGD1 and its variants.

These databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in learning more about genes, variants, and associated syndromes. They provide a wealth of information on gene functions, protein regulation, variant testing, and related conditions.

Example databases related to gene and variant information:
Database Description
OMIM Comprehensive catalog of human genes and genetic disorders
HGMD Contains information on disease-causing mutations and their effects
GTR Centralized resource for information on genetic tests and testing laboratories
Pubmed Database of scientific articles and publications related to genes and variants

By utilizing these databases, researchers and healthcare professionals can stay up-to-date on the latest discoveries and advancements in gene and variant research, which can lead to improved diagnosis, treatment, and management of genetic conditions.


Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.