Hennekam lymphangiectasia lymphedema syndrome

A hereditary autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the INTESTINAL TRACT; PERICARDIUM; and limbs. Additional features may include facial dysmorphism, cognitive impairment, and CRYPTORCHIDISM in affected males. Mutations in the CCBE1 gene have been identified. OMIM: 235510

Also Known As:

Hennekam Lymphangiectasia-Lymphedema Syndrome; Lymphangiectasies and lymphedema Hennekam type; Lymphatic Dysplasia, Generalized

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Experts

1.	Bolkov, Mikhail A: 1 article (01/2021)
2.	Chereshnev, Valery A: 1 article (01/2021)
3.	Deryabina, Svetlana S: 1 article (01/2021)
4.	Guojun, Liu: 1 article (01/2021)
5.	Shinwari, Khyber: 1 article (01/2021)
6.	Tuzankina, Irina A: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hennekam lymphangiectasia lymphedema syndrome:

1.	Epidermal Growth Factor (EGF)IBA 01/01/2021 - "Hennekam lymphangiectasia-lymphedema syndrome has been linked to single-nucleotide polymorphisms in the CCBE1 (collagen and calcium-binding EGF domains 1) gene. "
2.	CollagenIBA 01/01/2021 - "Hennekam lymphangiectasia-lymphedema syndrome has been linked to single-nucleotide polymorphisms in the CCBE1 (collagen and calcium-binding EGF domains 1) gene. "
3.	CalciumIBA 01/01/2021 - "Hennekam lymphangiectasia-lymphedema syndrome has been linked to single-nucleotide polymorphisms in the CCBE1 (collagen and calcium-binding EGF domains 1) gene. "