Features include always present findings: Hypertelorism, Lymphedema, Intestinal lymphangiectasia, and Flat face and others; and very common findings: Pulmonary lymphangiectasia. 63 total HPO annotations.

CCBE1 encodes collagen and calcium binding EGF domains 1 (406 aa). Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis Highest expression in Cells Cultured fibroblasts (120.6 TPM) and Ovary (37.5 TPM).

Hennekam lymphangiectasia-lymphedema syndrome 1 is associated with mutations in the CCBE1 gene on chromosome 18.

CCBE1 is classified as a druggable target with score 0.0.

Genetic testing for CCBE1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 always present features, 1 very common feature, 1 common feature.

No clinical trials have been registered for Hennekam lymphangiectasia-lymphedema syndrome 1.

5 publications have been identified in PubMed for Hennekam lymphangiectasia-lymphedema syndrome 1. Research spans Case Report / Case Series (40%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).

Recent Publications

• Goret N (2026). [PMID: 41277165](https://pubmed.ncbi.nlm.nih.gov/41277165/). *Journal of pediatric gastroenterology and nutrition*. [Epidemiology / Natural History]

• Mascarenhas S (2026). [PMID: 41992670](https://pubmed.ncbi.nlm.nih.gov/41992670/). *Am J Med Genet A*. [Basic Science / Preclinical]

• Zhang R (2025). [PMID: 40394495](https://pubmed.ncbi.nlm.nih.gov/40394495/). *BMC cardiovascular disorders*. [Case Report / Case Series]

• Vignes S (2025). [PMID: 40640921](https://pubmed.ncbi.nlm.nih.gov/40640921/). *Orphanet journal of rare diseases*. [Review / Meta-Analysis]

• Durak T (2024). [PMID: 38441203](https://pubmed.ncbi.nlm.nih.gov/38441203/). *Clinical dysmorphology*. [Case Report / Case Series]