Familial and multiple pulmonary arteriovenous malformations

Gene: SOX18

Red List (low evidence)

Pathogenic variants in SOX18 cause hypotrichosis-lymphedema-telangiectasia syndrome. “Telangiectasia" is simply a descriptive term for small dilated blood (or lymphatic) vessels. There appears to be no phenotypic overlap with hereditary haemorrhagic telangiectasia which is commonly associated with pulmonary arteriovenous malformations. I am not aware that SOX18 has been shown to be associated with pulmonary arteriovenous malformations.

Created: 13 Nov 2016, 11:36 p.m.