Hennekam Syndrome

Alias:

Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome

Hennekam Lymphangiectasia-Lymphedema Syndrome

Hennekam Lymphangiectasia Lymphedema Syndrome

Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome

Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome

Generalized Lymphatic Dysplasia

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hennekam Syndrome, also known as lymphedema-lymphangiectasia-intellectual disability syndrome, is related to hereditary lymphedema i and lymphatic malformation 1. An important gene associated with Hennekam Syndrome is CCBE1 (Collagen And Calcium Binding EGF Domains 1), and among its related pathways/superpathways are Extracellular matrix organization and Angiogenesis (CST). Affiliated tissues include skin and thyroid, and related phenotypes are intellectual disability and depressed nasal bridge

Related ID：

MALACARDS：HNN001

MESH：C537255