Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is an extremely rare lymphedema syndrome. The transcription factor SOX18 was shown to play a role in the development of hair, blood vessels and lymphatic vessels. SOX18 mutations are associated with both recessive and dominant HLTS.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
11 Diseases of the circulatory system
Disorders of lymphatic vessels or lymph nodes
BD93 Lymphoedema
H02168 Hypotrichosis-lymphedema-telangiectasia syndrome
Wunnemann F, Kokta V, Leclerc S, Thibeault M, McCuaig C, Hatami A, Stheneur C, Grenier JC, Awadalla P, Mitchell GA, Andelfinger G, Preuss C
Title
Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.
