MeSH Browser

MeSH Supplementary: Hennekam lymphangiectasia lymphedema syndrome
Unique ID: C537255
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537255
Entry Term(s): Hennekam Lymphangiectasia-Lymphedema Syndrome; Lymphangiectasies and lymphedema Hennekam type; Lymphatic Dysplasia, Generalized
Previous Indexing: *GENITAL DISEASES, MALE (2010-2015)
Heading Mapped to: *Lymphangiectasis, Intestinal; *Lymphedema; *Craniofacial Abnormalities
Frequency: 37
Note: 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
Date of Entry: 2010/08/25
Revision Date: 2019/04/01

Hennekam lymphangiectasia lymphedema syndrome MeSH Supplementary Concept Data 2024