TGFBR1 and vascular disorder: Similar to other conditions known as TGF-β vasculopathies (MFS, which is caused by FBN1 mutations and LDS, which is caused by TGFBR1, TGFBR2, SMAD3 and TGFB2 mutations), the SLC2A10 loss of function activates the TGF-β signaling pathway [4,28].