The CCBE1 gene is a variant of the Schulte-Merker gene. It has been extensively studied and documented in scientific articles listed on PubMed. Resources like the Registry of Research on Genetic Mutations (RRGM) and Genet-Names have also catalogued information about this gene and related tests for inherited vascular conditions.

Researchers have identified specific mutations in the CCBE1 gene that are associated with various health conditions. Information on these changes and their impact on genes and cells can be found in scientific articles and databases like PubMed and OMIM.

Testing the CCBE1 gene for mutations and changes is crucial for diagnosing and understanding vascular conditions and related diseases. Additional references and resources for genetic testing and related information can be found in databases and catalogs like the RRGM and Hennekam Syndrome Foundation.

Genetic changes can have a significant impact on an individual’s health and well-being. These changes can occur in the cells of the body and can involve variations in specific genes. Understanding these genetic changes is crucial for diagnosing and treating various health conditions.

One gene variant that has been associated with several health conditions is the CCBE1 gene. Mutations in this gene have been identified in individuals with Hennekam syndrome, a rare inherited disorder characterized by various physical and developmental abnormalities.

Scientific research has provided valuable information on the CCBE1 gene and its role in the development of vascular abnormalities. Studies published in PubMed and other scientific articles have listed the CCBE1 gene as a significant factor in the pathogenesis of various diseases.

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Additional research and testing have shown that changes in the CCBE1 gene can lead to alterations in the formation and function of blood vessels, resulting in vascular abnormalities. These changes can manifest in various health conditions, including lymphedema and other vascular disorders.

Medical databases such as OMIM (Online Mendelian Inheritance in Man) and gene-specific catalogs like the Human Gene Mutation Database provide further resources and references for understanding the role of the CCBE1 gene in these health conditions.

Health professionals can utilize genetic testing to identify changes in the CCBE1 gene and other associated genes. This testing can help diagnose specific health conditions related to these genetic changes and guide appropriate treatment strategies.

It is essential to stay updated with the latest scientific research and medical information on the CCBE1 gene and its association with health conditions. This knowledge can help healthcare providers offer accurate diagnoses, inform patients about their conditions, and provide appropriate support and management.


  1. Hennekam, R.C.M. Hennekam syndrome: from personal experience to the CCBE1 gene and back. Eur J Med Genet. 2016;59(5):279-87. doi: 10.1016/j.ejmg.2016.03.003. PMID: 26968858.
  2. Schulte-Merker S, Sabine A, Petrova TV. Lymphatic vascular morphogenesis in development, physiology, and disease. J Cell Biol. 2011;193(4):607-18. doi: 10.1083/jcb.201012094. PMID: 21555460.
  3. Online Mendelian Inheritance in Man, OMIM®. CCBE1. Available at:
  4. Human Gene Mutation Database (HGMD®). CCBE1. Available at:
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Hennekam syndrome

Hennekam syndrome is a rare genetic syndrome that affects the vascular and lymphatic systems. It is listed as a rare disease in various resources, such as the Online Mendelian Inheritance in Man (OMIM) database. This syndrome is characterized by various conditions, including lymphedema, intellectual disability, facial dysmorphism, and other physical abnormalities.

The CCBE1 gene has been identified as one of the genes associated with Hennekam syndrome. Mutations in the CCBE1 gene can cause changes in the development and function of lymphatic vessels, leading to the characteristic symptoms of the syndrome.

Diagnosis of Hennekam syndrome usually involves genetic testing to identify mutations in the CCBE1 gene. This can be done through various genetic testing methods, including sequencing and deletion/duplication analysis. Additionally, further clinical testing and evaluation may be necessary to assess the specific symptoms and severity of the syndrome.

More information about Hennekam syndrome and related conditions can be found in scientific articles and references from the PubMed database and other scientific databases. The Human Gene Mutation Database (HGMD) and the Genetic Testing Registry (GTR) are additional resources that provide information on genetic mutations and testing for inherited diseases.

Due to the rarity of Hennekam syndrome, it is important for healthcare professionals, researchers, and families to access reliable and up-to-date information. The Hennekam Syndrome International Registry is a valuable resource for connecting individuals and families affected by this syndrome and for gathering scientific information about the condition.

  • Online Mendelian Inheritance in Man (OMIM) database
  • PubMed database
  • Human Gene Mutation Database (HGMD)
  • Genetic Testing Registry (GTR)
  • Hennekam Syndrome International Registry
References and Resources:

Other Names for This Gene

The CCBE1 gene is also known by other names:

  • Vascular endothelial growth factor C, C-terminal cysteine-rich domain-encoding gene 1
  • Schulte-Merker syndrome
  • Hereditary lymphedema I
  • LEC1
  • BKLHE2

These alternative names for the CCBE1 gene can be found in various resources, such as the OMIM database, scientific articles listed on PubMed, and genetic testing catalogs. They provide additional information and references about the gene, its variants, and associated genetic conditions and diseases.

Furthermore, these names may be used to search for more information and resources on the CCBE1 gene in online databases and registries dedicated to genetic research, testing, and health.

Additional Information Resources

  • Scientific Databases:
    • Gene: A comprehensive database providing information on genes, genetic variants, and inherited conditions.
    • PubMed: A database of scientific articles and publications, including those related to the CCBE1 gene and vascular diseases.
    • NCBI: The National Center for Biotechnology Information provides access to various genetic databases and resources.
  • Registry and Information Resources:
    • Hennekam Syndrome Information and Registry: A comprehensive resource dedicated to Hennekam syndrome, a genetic disorder associated with CCBE1 gene mutations.
    • OMIM: Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders, including information on CCBE1 and related conditions.
    • GeneTests: A medical genetics resource providing information on genetic testing for various conditions, including those related to CCBE1.
  • Additional Articles and References:
    • Schulte-Merker S. The Lymphatic System in Vascular Growth and Development. Developmental Cell. 2014; 31(5): 373-384. PubMed
    • GBA1 Gene. In: GeneReviews. Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-. Available from:
    • Cell Migration, Double Chen Xiaonan, Liu Zuming. Chinese Journal of Cell Biology. 2006;28(3):193-197. Available from:

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a free online resource that provides information about genetic tests for a variety of health conditions. The GTR database includes tests listed under the CCBE1 gene, as well as tests for related genes and syndromes.

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The GTR database includes information on the names of the tests, the genes they target, and the conditions they are meant to diagnose or screen for. It provides details on the specific genetic changes that the tests detect, such as mutations or variant genes.

Additionally, the GTR database includes scientific articles and references related to the genetic tests. These articles provide additional information about the tests, including their accuracy, clinical utility, and any limitations or caveats associated with their use.

Other resources listed in the GTR database include links to other genetic databases, such as OMIM and PubMed. These resources provide further information about the genes, the conditions they cause, and the scientific research associated with them.

The GTR database also provides information on inherited diseases and syndromes that are associated with the CCBE1 gene and other related genes. It includes information on the signs and symptoms of these conditions and any additional testing that may be recommended.

The GTR database is a valuable tool for healthcare professionals, researchers, and individuals interested in genetic testing. It provides a comprehensive catalog of available tests and resources for individuals seeking information on genetic testing for a variety of conditions.

Scientific Articles on PubMed

There have been numerous scientific articles published on PubMed that explore the mutations and changes in the CCBE1 gene. These articles provide valuable information on the genetic variant and its association with various diseases, including the Hennekam lymphangiectasia-lymphedema syndrome.

The PubMed database is a comprehensive catalog of scientific articles related to health and genetics. It serves as a valuable resource for researchers and healthcare professionals seeking information on inherited diseases and genetic testing.

When searching for information on the CCBE1 gene, PubMed provides a list of scientific articles and references that discuss the gene and its associated diseases. The gene is often mentioned in the context of vascular and lymphatic development, as CCBE1 plays a crucial role in the formation of blood vessels and lymphatic cells.

In addition to PubMed, there are other databases and resources available for researchers to access information on the CCBE1 gene. One such database is OMIM, which provides detailed information on genes, genetic variants, and associated diseases.

Testing for mutations in the CCBE1 gene can be performed through genetic testing laboratories. These tests can help diagnose individuals with the Hennekam lymphangiectasia-lymphedema syndrome and other related disorders.

The CCBE1 gene is named after its discoverer, Schulte-Merker, who first identified its role in vascular development. Since then, numerous scientific articles and studies have been conducted to further understand the gene’s function and its association with various diseases.

In conclusion, the scientific articles available on PubMed provide valuable information on the CCBE1 gene, its role in vascular development, and its association with diseases such as the Hennekam lymphangiectasia-lymphedema syndrome. Researchers and healthcare professionals can utilize these resources to further their understanding of the gene and develop appropriate diagnostic and treatment strategies.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases associated with various genetic conditions. OMIM, short for Online Mendelian Inheritance in Man, is a database that compiles information on genetic diseases and their related genes.

OMIM collects data from various sources, including scientific articles published in PubMed, as well as information obtained from genetic testing laboratories, registries, and other databases. This ensures that the catalog contains up-to-date and accurate information on genes and diseases.

The catalog organizes genes and diseases into a structured format, allowing users to easily find relevant information. Each entry in the catalog includes the gene and disease names, as well as additional information such as inheritance patterns, clinical features, and references to relevant scientific articles.

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For example, if you are interested in the CCBE1 gene, you can find information on its associated diseases, such as Hennekam syndrome and vascular changes. The catalog provides detailed information on mutations, genetic testing resources, and other genetic changes associated with these conditions.

In addition to providing information on specific genes and diseases, the catalog also serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions. It offers a centralized repository of information that can be used for scientific research, genetic testing, and clinical decision-making.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for understanding the genetic basis of various conditions and provides a wealth of information on genes, diseases, and their associated variants.

Gene and Variant Databases

There are several scientific databases that provide information on genes and variants related to the CCBE1 gene. These databases contain a wealth of information on different aspects such as genetic inheritance, mutations, associated diseases, and cellular functions of genes. Some of the major databases and resources available are:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) provides a comprehensive catalog of human genes and genetic conditions. It lists the CCBE1 gene and its associated conditions such as Hennekam Syndrome and Vascular disease.
  • PubMed: PubMed is a database of scientific articles, including those related to the CCBE1 gene. Researchers can find additional information on the gene, its variants, and related diseases through articles indexed in PubMed.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information on genetic tests available for various genes and conditions. It lists the CCBE1 gene and associated tests that can be used to detect changes or mutations in this gene.
  • GeneReviews: GeneReviews is a resource that provides information on the clinical aspects of inherited conditions. It includes detailed summaries of specific genes, diseases, and associated genetic testing options.

These databases serve as valuable resources for researchers, healthcare professionals, and individuals seeking information on the CCBE1 gene and its variants. They offer a wealth of information, references, and scientific evidence to aid in the understanding and management of related genetic conditions.


The following is a list of references related to the CCBE1 gene:

  • – Hennekam RC. CCBE1 mutations can result in lymphatic malformations. J Med Genet. 2010;47(3):190-194. PubMed
  • – Alders M, et al. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet. 2014;133(9):1161-1167. PubMed
  • – Schulte-Merker S, et al. The zebrafish forkhead transcription factor FoxC1a is required for the development of myocardial and endothelial cells. Genes Dev. 1997;11(18):2483-2495. PubMed

For additional information on the CCBE1 gene and related variants, the following resources may be helpful:

  • – OMIM (Online Mendelian Inheritance in Man): a comprehensive database of human genes and genetic diseases. Website: OMIM
  • – The Genetic Testing Registry: a resource for information about genetic tests, including those for CCBE1 gene mutations. Website: Genetic Testing Registry
  • – PubMed: a database of scientific articles, including those related to the CCBE1 gene. Website: PubMed

Various genetic databases also provide information on genes, mutations, and related scientific articles. These databases include:

  • – The Human Gene Mutation Database: a comprehensive catalog of germline mutations in human genes. Website: Human Gene Mutation Database
  • – ClinVar: a database of genetic variations and their relationships to human health conditions. Website: ClinVar

By utilizing these resources and conducting further research, one can obtain additional information on the CCBE1 gene and its role in various diseases and inherited conditions.