Disease

Hennekam Lymphangiectasia-lymphedema Syndrome

About the Disease
Hennekam Syndrome, also known as hennekam lymphangiectasia lymphedema syndrome, is related to menke-hennekam syndrome and hereditary lymphedema i. An important gene associated with Hennekam Syndrome is CCBE1 (Collagen And Calcium Binding EGF Domains 1), and among its related pathways/superpathways are Angiogenesis (CST) and HIF1Alpha Pathway. Affiliated tissues include skin, thyroid and heart, and related phenotypes are intellectual disability and depressed nasal bridge

Common Targets
CCBE1 | FAT4 | VEGFC | DCHS1 | ADAMTS3

疾病靶点研报
Hennekam Lymphangiectasia-lymphedema Syndrome

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