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The COLEC11 gene, also known as collectin kidney 1 (CL-K1), is a gene that plays a crucial role in the development and function of the immune system. It belongs to the collectin family of genes, which are involved in the recognition and clearance of pathogens and foreign substances in the body.

Alterations in the COLEC11 gene can lead to various health conditions, including the 3MC syndrome. This syndrome is characterized by the presence of multiple congenital anomalies, including facial dysmorphism, intellectual disability, and various organ malformations. The COLEC11 gene mutations are listed in the OMIM database and can be identified through genetic testing.

Testing for COLEC11 gene variants can be done through several resources, including genetic testing laboratories and the COLEC11 gene variant registry. Additional information on the COLEC11 gene and related disorders can be found in scientific articles and databases, such as PubMed and the Human Gene Mutation Database.

Scientific research has identified several health conditions that are related to genetic changes in the COLEC11 gene. These changes can lead to various problems in the liver, immune system, and other areas of the body.

Genetic changes in the COLEC11 gene can cause a range of health conditions, including:

  • 3MC Syndrome: Also known as “Malpuech-Michels-Mingarelli-Carbonell syndrome,” this condition affects the development of facial features, intellect, and other aspects of growth and development.
  • CL-K1 and CL-L1 Deficiencies: These conditions are characterized by a deficiency or absence of collectin proteins CL-K1 and CL-L1, which are encoded by the COLEC11 gene. Collectins are part of the immune system and help to defend against infections.
  • Other Diseases: Genetic changes in the COLEC11 gene may also be associated with other health conditions that are listed in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These conditions may include various syndromes and diseases.

To confirm the presence of genetic changes in the COLEC11 gene, diagnostic tests such as genetic sequencing can be performed. These tests can be recommended by healthcare professionals based on the symptoms and medical history of an individual.

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In addition to diagnostic testing, there are resources available for individuals and healthcare professionals seeking more information on health conditions related to COLEC11 gene changes. These resources may include registries, research articles, and other genetic databases.

It is important to note that this information is not meant to replace medical advice. If you have concerns about your health or the health of a loved one, it is recommended to consult with a healthcare professional for further evaluation and guidance.

3MC syndrome

3MC syndrome is a genetic condition that affects development, especially of the facial features and multiple organ systems. It is characterized by three primary features, which give the syndrome its name:

  • M = Intellectual and developmental disabilities, including learning problems
  • M = Facial features that are distinctive, such as a broad nose, highly arched eyebrows, and a wide mouth
  • C = Complex orofacial clefting, including cleft lip and palate

3MC syndrome is caused by changes in several different genes, and currently, six genes have been identified as being associated with this syndrome: COLEC11, ARMC4, MASP1, COLEC10, COLEC11 and CCDC115. The most common genetic variant associated with 3MC syndrome is related to changes in the COLEC11 gene, which provides instructions for making a protein called collectin-11 (CL-K1). Collectins are a group of proteins that are involved in the immune system and also have a role in the development of different organs and tissues.

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Diagnosis of 3MC syndrome is made through genetic testing, which can include sequencing the COLEC11 gene as well as testing for changes in other genes associated with the syndrome. Additional tests may be ordered to assess the individual’s health and development, including liver function tests and imaging studies.

Information about 3MC syndrome can be found in various resources and databases. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genes and diseases associated with 3MC syndrome. PubMed is another useful resource for finding scientific articles, references, and related information on the syndrome. The Rare Diseases Registry (RDR) is a free database that contains information on rare diseases, including 3MC syndrome.

Genes Associated with 3MC Syndrome Collectins
COLEC11 CL-K1
ARMC4 CL-L1
MASP1 N/A
COLEC10 N/A
COLEC11 CL-K1
CCDC115 N/A

References:

  1. Online Mendelian Inheritance in Man (OMIM) – https://www.omim.org
  2. PubMed – https://pubmed.ncbi.nlm.nih.gov
  3. Rare Diseases Registry (RDR) – https://rarediseases.org

Other Names for This Gene

The COLEC11 gene is also known by other names:

  • CL-K1
  • CL-L1

These are alternate names for the collectin liver gene 1, which is involved in the development and function of the immune system. Mutations in this gene can lead to various diseases and syndromes, including 3MC syndrome and other genetic conditions.

For more information about this gene, you can refer to the following resources:

  • OMIM – Online Mendelian Inheritance in Man
  • PubMed – a database of scientific articles and information
  • The Human Gene Mutation Database
  • The Genetic Testing Registry

Testing for variants in the COLEC11 gene can be done through genetic tests and may help in diagnosing and managing health problems associated with this gene.

References:

  1. Hartshorn KL, White MR, Tecle T, et al. Pulling out the stops: Inhibition of the complement pathway by the collectins mannose-binding lectin and lung surfactant protein D. Springer Semin Immunopathol. 2005;27(4):369-389. PMID: 16228200.
  2. Swierzko AS, Szala A, Sawicki S, et al. New functional ligands for mannan-binding lectin. Int Immunol. 2006;18(6):861-869. PMID: 16690676.
  3. Thiel S, Vorup-Jensen T, Stover CM, Schwaeble W, Laursen SB, Poulsen K, et al. A second serine protease associated with mannan-binding lectin that activates complement. Nature. 1997;386(6624):506-510. PMID: 9087411.

These articles provide additional information on the functions, changes, and associations of the COLEC11 gene.

Additional Information Resources

For additional information about the COLEC11 gene and related syndromes, you may find the following resources helpful:

  • PubMed – This is a free scientific database where you can find articles and studies related to the COLEC11 gene, CL-L1 and CL-K1 collectins, and other genetic conditions. It provides a wealth of information on the topic and can be a valuable resource for further research.
  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic diseases. You can find detailed information about the COLEC11 gene, related syndromes, and associated gene variants on this database.
  • 3MC Syndrome Registry – The 3MC Syndrome Registry is a resource specifically dedicated to the 3MC syndrome, a genetic condition associated with mutations in the COLEC11 gene. It provides information on the syndrome, its symptoms, genetic testing, and available resources for affected individuals and families.

In addition to these databases, there are also scientific articles, tests, and other resources available that provide further information on the COLEC11 gene and its related syndromes. It is recommended to consult with healthcare professionals and geneticists for specific genetic testing and interpretation of results.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a free online resource that provides information on genetic tests for various diseases and conditions. It offers a comprehensive catalog of tests, including those related to the COLEC11 gene.

The COLEC11 gene, also known as CL-K1, is involved in the development of the 3MC syndrome, a rare genetic disorder characterized by facial, structural, and cognitive problems.

Tests listed in the GTR for the COLEC11 gene include:

  • Variant detection: These tests aim to identify specific changes or mutations in the COLEC11 gene that may be associated with 3MC syndrome or other related conditions.
  • Gene sequencing: This test involves sequencing the COLEC11 gene to identify any changes or mutations that may be present.
  • Functional studies: These tests assess the functional impact of changes in the COLEC11 gene and their relation to 3MC syndrome or other diseases.
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In addition, the GTR provides additional resources and references, such as scientific articles, OMIM entries, and PubMed references, to further enhance the understanding of the COLEC11 gene and its role in disease development.

It is important to note that the GTR is not limited to the COLEC11 gene alone. It encompasses a wide range of genes associated with various diseases and conditions, offering a comprehensive database for researchers, healthcare professionals, and individuals seeking genetic testing information.

For more information on tests listed in the GTR for the COLEC11 gene and related conditions, please visit the Genetic Testing Registry website.

Scientific Articles on PubMed

COLEC11 gene, also known as collectin sub-family member 11, is a genetic gene associated with 3MC syndrome. This syndrome is characterized by various health conditions and problems, including changes in facial features, intellectual disability, and other developmental abnormalities.

In order to better understand the role of COLEC11 gene in 3MC syndrome and related diseases, scientific articles related to this gene can be found on PubMed. PubMed is a widely used database that provides access to a vast catalog of scientific articles and references from various sources.

By searching for the gene name “COLEC11” in PubMed, researchers can find a wealth of information on the genetic variant, its functional role in the disease, and additional conditions associated with this gene. The articles on PubMed provide valuable insights into the genetic testing, diagnosis, and management of 3MC syndrome and related disorders.

Some of the articles available on PubMed include case studies, genetic analyses, and clinical trials related to COLEC11 gene and its association with 3MC syndrome. These articles provide a free and scientific resource for healthcare professionals, researchers, and individuals seeking more information about the gene and its related diseases.

Furthermore, PubMed also provides information on other genes and genetic variants related to collectins and their role in various diseases. Collectins are a family of proteins involved in the immune system and play a crucial role in defense against pathogens and diseases.

Overall, PubMed is a valuable resource for accessing scientific articles and information related to genes, genetic testing, and various diseases. It serves as a comprehensive database for healthcare professionals and researchers to stay updated on the latest research and developments in the field of genetics and genomics.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides comprehensive information on the COLEC11 gene and related genetic conditions.

The COLEC11 gene, also known as Collectin-11, is involved in the development of the immune system and plays a crucial role in recognizing and clearing pathogens. Mutations in this gene have been linked to various health problems, including a rare genetic disorder known as 3MC syndrome. This syndrome is characterized by developmental abnormalities in multiple systems, including the facial features, the urinary tract, and the digestive system.

In addition to the COLEC11 gene, the Catalog provides information on other related genes and their functions. This includes genes such as CL-L1 and CL-K1, which are collectins, a type of protein that helps in the recognition and binding of pathogens. Changes or variants in these genes can lead to various genetic conditions and health issues.

The Catalog offers a wealth of scientific information on these genes and the associated diseases. It includes references to scientific articles, clinical resources, and databases where researchers and healthcare professionals can find more detailed information. The Catalog is a valuable tool for those studying or working in the field of genetics and related fields.

For those interested in learning more about the COLEC11 gene and related conditions, the Catalog provides a comprehensive listing of diseases and conditions associated with this gene. It includes information on symptoms, diagnostic tests, and available treatments. The Catalog also includes free access to publications and references from PubMed, a widely used scientific database.

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Researchers and healthcare professionals can use the Catalog to stay up-to-date with the latest scientific research and findings related to the COLEC11 gene and related conditions. It serves as a valuable resource for understanding the genetic basis of diseases and exploring potential treatment options.

In summary, the Catalog of Genes and Diseases from OMIM provides a comprehensive and scientific overview of the COLEC11 gene and related conditions. It offers a wealth of resources and information to help researchers, healthcare professionals, and individuals interested in genetics and health.

Gene and Variant Databases

When it comes to researching the COLEC11 gene and its variants, there are several useful databases that can provide valuable information on this topic. These databases collect and store data related to genes, genetic variants, and their associated diseases and conditions. They serve as valuable resources for scientists, researchers, and healthcare professionals working on understanding and testing genetic changes.

One of the major databases for gene and variant information is PubMed. PubMed is a free online resource that provides access to scientific articles and references on a wide range of topics, including genetics. By searching for the COLEC11 gene or related syndrome names, such as 3MC syndrome, researchers can find relevant articles and references that discuss the genetic changes and their impact on health.

In addition to PubMed, there are several other gene and variant databases that can be helpful in researching the COLEC11 gene. One such database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a catalog of human genes and genetic conditions. By searching for the COLEC11 gene on OMIM, researchers can access information on the gene’s function, associated diseases, and related genetic changes.

Another valuable database for gene and variant information is the Genetic Testing Registry. This registry provides information about genetic tests for a variety of genes and genetic conditions. By searching for the COLEC11 gene on the Genetic Testing Registry, researchers can find information on available testing options, including test names, laboratories offering the tests, and related conditions or syndromes.

Furthermore, there are specific databases focused on collectin genes like COLEC11. Collectins are a family of proteins involved in the immune system and play a role in recognizing pathogens. One such database is the CL-L1 gene database, which collects information specifically on the CL-L1 collectin gene. This database provides information on the gene’s function, genetic variants, and their association with immune-related disorders.

Overall, these gene and variant databases serve as valuable resources for researchers and healthcare professionals working on understanding the COLEC11 gene and its related genetic variants. By utilizing these databases, researchers can access scientific articles, testing information, and additional resources that aid in the development of treatments and testing methods for COLEC11-related conditions.

References

The following resources provide additional information on the COLEC11 gene:

  • Online Mendelian Inheritance in Man (OMIM) – a comprehensive catalog of human genes and genetic disorders: COLEC11
  • PubMed – a database of scientific articles: COLEC11 gene
  • Genetics Home Reference – information on conditions related to the COLEC11 gene: 3MC syndrome
  • Clinical Testing and Interpretation for Rare Variants (CLIRV) – a free genetic testing registry for rare genetic variants: COLEC11
  • The Human Gene Mutation Database (HGMD) – a comprehensive collection of gene mutations and disease-related information: COLEC11

In addition, the following articles and databases can provide further information:

Article Description
CL-L1 and CL-K1, a Novel Collectin Subunit Pair with Similarity to Clq and MBL, Expressed in Serum and Tissue An article exploring the characteristics and functions of the CL-L1 and CL-K1 collectin subunit pair.
The role of collectins in host-pathogen interactions A review article discussing the role of collectins in various host-pathogen interactions and their importance in the immune system.
Development and testing of a registry of clinical testing and interpretation for rare variants (CLIRV) An article describing the development and testing of the CLIRV registry, which aims to provide comprehensive information on rare genetic variants.

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