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CCBE1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CCBE1 gene

The CCBE1 gene provides instructions for a protein essential for the development of the lymphatic system and the regulation of lymphatic vessel formation.

Normal Function

The CCBE1 gene provides instructions for making a protein that is found in the extracellular matrix, the lattice of proteins and other molecules that forms in the spaces between cells. Early in development, the CCBE1 protein is involved in the formation of the lymphatic system, a network of vessels that transport white blood cells (lymphocytes), nutrients, and proteins in a fluid called lymph.

The CCBE1 protein helps guide the maturation (differentiation) and movement (migration) of immature cells called lymphangioblasts that eventually form the lining (epithelium) of lymphatic vessels. Additionally, the CCBE1 protein works with a protein produced from the ADAMTS3 gene to help regulate the activity of a protein called vascular endothelial growth factor receptor 3 (VEGFR3), which plays a key role in the development and maintenance of the lymphatic system.

Health Conditions Related to Genetic Changes

Hennekam syndrome

Pathogenic variants in the CCBE1 gene cause Hennekam syndrome, an inherited disorder characterized by abnormalities of the lymphatic system. People with Hennekam syndrome often have:

  • Dilated lymphatic vessels (lymphangiectasias)
  • An accumulation of lymph (lymphedema) in various tissues

Many of the pathogenic CCBE1 gene variants associated with Hennekam syndrome cause cells to make a version of the protein that does not function properly. As a result, VEGFR3 protein activity is disrupted and the formation of the lymphatic vessels is impaired, leading to the lymphangiectasia and lymphedema seen in people with this condition.

Other Names for This Gene

  • FLJ30681
  • KIAA1983

Frequently Asked Questions

Hennekam syndrome is a specific autosomal recessive disorder characterized by a triad of lymphangiectasia (dilated lymphatic vessels), lymphedema, and often intellectual disability or developmental delay. Unlike sporadic lymphatic malformations which may be localized, Hennekam syndrome typically presents with widespread involvement of multiple body systems, including the gastrointestinal tract, lungs, and limbs, due to the systemic disruption of lymphatic vessel formation during embryonic development.
Early signs often include generalized swelling (edema) of the limbs or face that does not resolve with elevation, as well as recurrent respiratory infections or difficulty breathing due to lymphatic fluid accumulation in the lungs. Gastrointestinal symptoms such as chronic diarrhea or failure to thrive may also occur due to lymphangiectasia in the intestines. These symptoms usually appear in the first few months of life.
Hennekam syndrome is inherited in an autosomal recessive pattern, meaning an individual must inherit two mutated copies of the CCBE1 gene, one from each parent. Parents are typically asymptomatic carriers. For family planning, genetic counseling is recommended to assess the risk of recurrence, which is 25% for each pregnancy if both parents are carriers. Preimplantation genetic testing or prenatal diagnosis can be considered for at-risk couples.
The CCBE1 protein works in conjunction with ADAMTS3 to regulate the activity of VEGFR3, a receptor critical for the growth and maintenance of lymphatic vessels. When CCBE1 is non-functional due to mutation, VEGFR3 signaling is disrupted, impairing the maturation and migration of lymphangioblasts. This results in poorly formed or absent lymphatic vessels, causing lymph fluid to leak into surrounding tissues and accumulate, leading to the characteristic lymphedema and lymphangiectasia.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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