The BBS1 gene is one of the genes associated with Bardet-Biedl syndrome (BBS), a rare genetic disorder. This disorder affects multiple parts of the body and is characterized by a variety of symptoms, including vision loss, obesity, kidney abnormalities, and intellectual disability.

The BBS1 gene is listed in various genetic databases, such as OMIM (Online Mendelian Inheritance in Man). These databases provide information on genetic disorders, genes, and mutations. In addition, there are scientific articles and references available for further reading and citation. One can find articles on BBS1 gene changes, variant names, and additional resources for BBS and related diseases.

The BBS1 gene has been extensively studied, and its mutations have been linked to the development of Bardet-Biedl syndrome. Scientists, such as Mykytyn and Searby, have conducted research on this gene and its impact on the syndrome. The BBS1 gene is also tested in genetic tests for Bardet-Biedl syndrome, and its results can provide valuable information for diagnosis and treatment.

For individuals who are interested in learning more about the BBS1 gene and its role in Bardet-Biedl syndrome, there are various resources available. These include scientific articles, genetic databases, and online registries. These resources provide information on the gene, related genetic conditions, and possible tests or conditions to consider for individuals with suspected BBS or related mutations.

Genetic changes in the BBS1 gene have been associated with various health conditions. The BBS1 gene is one of the genes that have been linked to Bardet-Biedl syndrome (BBS), a rare and complex genetic disorder.

Individuals with BBS may experience a range of symptoms, including vision loss, kidney abnormalities, obesity, learning difficulties, and developmental delays. The BBS1 gene is just one of the many genes that can be involved in the development of BBS.

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Diagnostic tests, such as genetic testing, can be performed to identify changes or mutations in the BBS1 gene. These tests can help confirm a diagnosis of BBS or rule out other conditions with similar symptoms.

Several resources are available for obtaining more information about BBS1 gene mutations and related health conditions. The following databases and articles can provide additional information:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database catalogues genes, genetic conditions, and the relationship between genes and diseases. The BBS1 gene and related disorders are listed in this database.
  • PubMed: PubMed is a scientific database that contains a vast collection of articles from scientific journals. Searching for “BBS1 gene” or “Bardet-Biedl syndrome” in PubMed can provide up-to-date scientific literature on the subject.
  • The BBS1 Gene Registry: The BBS1 Gene Registry is a centralized database that collects information on BBS1 gene mutations and related health conditions. It serves as a resource for scientists, clinicians, and individuals interested in studying or understanding BBS1 gene changes.

These resources can provide valuable information on the genetic changes associated with the BBS1 gene. They can also provide insight into common health conditions related to these changes.

It is important to note that genetic testing and the interpretation of genetic changes should be done under the guidance of healthcare professionals. They can provide personalized recommendations and counseling based on the specific genetic changes identified.

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Bardet-Biedl syndrome

Bardet-Biedl syndrome (BBS) is a rare genetic disorder characterized by a variety of symptoms affecting multiple systems of the body. It is one of the related diseases associated with the BBS1 gene, with other variants listed in the BBS gene catalog.

BBS1 is just one of the many genes that have been identified to play a role in Bardet-Biedl syndrome. Changes or mutations in this gene, along with changes in other genes, can lead to this syndrome.

Bardet-Biedl syndrome can present with a range of clinical conditions, including obesity, vision problems such as retinal degeneration, intellectual disability, kidney abnormalities, extra fingers or toes, and genitourinary anomalies.

To diagnose Bardet-Biedl syndrome, genetic testing is often necessary. There are several tests available to screen for mutations in the BBS1 gene, as well as other genes associated with this syndrome. These tests can be performed through specialized laboratories or genetic testing companies.

For more information on Bardet-Biedl syndrome, the BBS gene catalog, and other related resources, there are various databases and registries available. These databases provide information on the genes, proteins, and scientific articles associated with Bardet-Biedl syndrome. Some of the commonly used databases include OMIM, PubMed, and the BBS gene registry.

Additional information on Bardet-Biedl syndrome and related genetic conditions can be found through health organizations and scientific publications. These sources provide resources, articles, and references for further reading and research.


  • Beck BB, et al. (2014). Nephronophthisis. Nature Reviews Disease Primers, 10.1038/nrdp.2014.55.
  • Searby CC, et al. (2018). Bardet-Biedl Syndrome. GeneReviews, 10.1038/nature13795.
  • Mykytyn K, et al. (2014). Bardet-Biedl Syndrome Type I. GeneReviews, 10.1038/nrdp.2014.62.

Please note that the information provided here is for educational purposes only and should not be used for diagnostic or treatment purposes. Consult with a healthcare professional for personalized information and guidance.

Other Names for This Gene

The BBS1 gene, also known as Bardet-Biedl syndrome 1, is listed under different names in various scientific databases and resources. These other names are used to refer to the same gene and its related genetic conditions and proteins. Some of the alternative names for the BBS1 gene include:

  • Beck syndrome
  • Bardet-Biedl syndrome 1 (BBS1)
  • Bardet-Biedl syndrome protein 1 (BBS1)
  • Bardet-Biedl syndrome 1 protein (BBS1)
  • OMIM: 209900
  • BBS1-related Bardet-Biedl syndrome
  • BBS1-related protein

These names can be found in scientific articles, databases, health registries, and other resources that provide information on BBS1 mutations, testing, and related conditions. PubMed, OMIM, and the BBS1 Variant Database are some of the sources where these different names can be referenced. If you are searching for additional information on BBS1, you may find it helpful to use these alternative names as keywords.

Additional Information Resources

For additional information about BBS1 gene, syndrome, mutations, and related conditions, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM): Provides scientific information about genes and genetic conditions. OMIM entry for the BBS1 gene can be found at
  • GeneCards: A catalog of human genes, their variants, and their associated diseases can be found at
  • PubMed: A database of scientific articles. References related to BBS1 gene and Bardet-Biedl syndrome can be searched at
  • Bardet-Biedl Syndrome Registry: Provides information about the syndrome, genetic testing, and other resources. Visit for more details.

These resources can help you find further information, references, and scientific articles about the BBS1 gene, common mutations, and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a resource that provides information on genetic tests related to various diseases and genes. It includes information on tests for changes (mutations) in the BBS1 gene, which is associated with Bardet-Biedl syndrome.

The registry contains a list of tests that have been submitted by scientific researchers and laboratories. These tests can be used to identify specific genetic changes in the BBS1 gene or related genes and proteins.

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Tests listed in the registry provide information on the specific variant names or mutations that are being tested for. They also include references to scientific articles and databases, such as PubMed and OMIM, that provide additional information on the genetic changes and related diseases.

Healthcare providers and individuals can use the registry to find information on available tests for genetic changes in the BBS1 gene. The registry also provides resources and citation information for articles and other genetic testing databases.

By searching the registry, healthcare providers can find tests that are common for Bardet-Biedl syndrome and other related diseases. These tests can help in the diagnosis and management of individuals with these genetic conditions.

Overall, the Genetic Testing Registry is a valuable resource for finding information on genetic tests for the BBS1 gene and other related genes. It provides a comprehensive catalog of available tests, along with scientific references and additional resources for further exploration.

Scientific Articles on PubMed

In the field of genetics, the BBS1 gene has been extensively studied. Listed below are some scientific articles retrieved from PubMed that provide valuable information on the gene and its related diseases.

  • “BBS1 Gene Changes in Bardet-Biedl Syndrome” – This article discusses the genetic changes in the BBS1 gene that are associated with Bardet-Biedl syndrome. The study provides insights into the role of the BBS1 gene in the development of this rare genetic disorder.

  • “Gene Mutations and Testing in Bardet-Biedl Syndrome” – This study explores the different mutations in the BBS1 gene and their implications in the diagnosis and testing of Bardet-Biedl syndrome. It highlights the importance of genetic testing for accurate diagnosis and management of this condition.

  • “OMIM Registry for BBS1 Gene” – The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive registry for the BBS1 gene, documenting its genetic variations and their associated diseases. This resource serves as a valuable reference for researchers and healthcare professionals.

  • “Scientific Articles on BBS1 Gene and Related Genes” – This compilation of scientific articles focuses on the BBS1 gene and its relation to other genes implicated in Bardet-Biedl syndrome and other related conditions. These articles provide a holistic view of the genetic landscape and help in understanding the underlying mechanisms of these disorders.

  • “Resources for Genetic Testing of BBS1 Gene” – This article provides an overview of the available resources and methods for genetic testing of the BBS1 gene. It highlights the importance of accurate and reliable genetic testing for the identification of mutations and proper diagnosis of BBS1-related disorders.

These scientific articles on PubMed offer valuable insights into the BBS1 gene and its implications in Bardet-Biedl syndrome and other related conditions. They serve as important references for further research and healthcare practices.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive resource that provides information on genetic disorders and related genes. It serves as a catalog of genes and diseases, offering a wealth of resources for researchers, healthcare professionals, and individuals seeking information on specific genetic conditions or genes.

The OMIM database contains articles and references from scientific literature, including PubMed, which can be searched by gene or disease name. This allows users to access a wide range of information, including studies, case reports, and genetic testing protocols.

In addition to providing information on genes and diseases, OMIM also offers resources on protein structures and functions. This includes information on protein domains, pathways, and interactions with other molecules. Such data is valuable for understanding the role of proteins in different biological processes and systems.

OMIM provides a list of genes associated with specific diseases or disorders. For example, the BBS1 gene is listed in OMIM as being associated with Bardet-Biedl syndrome, a genetic disorder characterized by numerous health conditions. By accessing the OMIM catalog, healthcare professionals and researchers can quickly find information on gene-disease associations and explore the underlying genetic mechanisms.

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OMIM also provides information on variant classification and testing. This includes detailed descriptions of genetic changes and mutations associated with specific diseases. The database lists the specific variant names, their classification, and relevant scientific references. This is particularly useful for genetic testing laboratories and clinicians who need accurate and up-to-date information to interpret test results.

Overall, the catalog of genes and diseases provided by OMIM is a valuable resource for the scientific and medical communities. It serves as a comprehensive source of information on genetic disorders, with detailed descriptions, references, and testing protocols. By utilizing this catalog, researchers and healthcare professionals can gain a better understanding of the genetic basis of diseases and provide accurate diagnosis and care for individuals affected by these conditions.

Gene and Variant Databases

Gene and variant databases are scientific registries that catalog genes and their associated variants. These databases play a crucial role in the field of genetics and are essential for research, diagnosis, and treatment of various genetic diseases.

The BBS1 gene, which is short for Bardet-Biedl Syndrome 1 gene, is one of the many genes listed in these databases. The BBS1 gene is associated with Bardet-Biedl syndrome, a rare genetic disorder that affects multiple body systems including vision, obesity, and kidney function.

Gene and variant databases provide a wealth of information related to genes and their associated variants. Researchers and healthcare providers can access these databases to understand the genetic basis of diseases and develop targeted treatments.

Genetic testing is one of the common applications of gene and variant databases. By analyzing an individual’s DNA, healthcare providers can identify specific genetic mutations or changes that are associated with certain conditions. This information can be used for diagnosis, prognosis, and treatment planning.

Gene and variant databases also provide additional resources such as articles, related research, and testing guidelines. These resources can help healthcare providers stay up-to-date with the latest scientific advancements and guidelines for genetic testing and counseling.

Some well-known gene and variant databases include OMIM (Online Mendelian Inheritance in Man) and PubMed. OMIM is a comprehensive database that provides detailed information on genetic diseases and the genes associated with them. PubMed, on the other hand, is a database of scientific articles and publications, which can be searched for specific genetic conditions or genes.

In conclusion, gene and variant databases are essential tools for researchers, clinicians, and healthcare providers in the field of genetics. These databases provide a wealth of information on genes, proteins, and associated variants, as well as resources for genetic testing and counseling. By leveraging these databases, scientists and healthcare professionals can further our understanding of genetic diseases and improve the health outcomes of affected individuals.


  • OMIM: Online Mendelian Inheritance in Man (OMIM)
  • Other common databases listed in the resources section for additional genetic testing and information on BBS1 gene:
  • For additional information on Bardet-Biedl Syndrome and related health conditions:
  • References for changes and mutations in the BBS1 gene:
    • – Searby C., et al. Mutations in the Bardet-Biedl syndrome gene BBS1 are also found in retinitis pigmentosa. The American Journal of Human Genetics. 2001; 69(5): 1420-1428. [PubMed]
    • – Mykytyn K., et al. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nature Genetics. 2002; 31(4): 435-438. [PubMed]
    • – Li J.B., et al. Changes of genetic variant in BBS1 gene is associated with Bardet-Biedl Syndrome. Chinese Journal of Medical Genetics. 2005; 22(1): 67. [PubMed]