Disease:Defects in ENG are the cause of hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]; also known as Osler-Rendu-Weber syndrome 1 (ORW1). HHT1 is an autosomal dominant multisystemic vascular dysplasia, characterized by recurrent epistaxis, muco-cutaneous telangiectases, gastro-intestinal hemorrhage, and pulmonary (PAVM), cerebral (CAVM) and hepatic arteriovenous malformations; all secondary manifestations of the underlying vascular dysplasia. Although the first symptom of HHT1 in children is generally nose bleed, there is an important clinical heterogeneity.,Major glycoprotein of vascular endothelium. May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors.,subunit:Homodimer that forms an heteromeric complex with the signaling receptors for transforming growth factor-beta: TGF-beta receptors I and/or II. It is able to bind TGF-beta 1, and 3 efficiently and TGF-beta 2 less efficiently. Interacts with TCTEX1D4.,tissue specificity:Endoglin is restricted to endothelial cells in all tissues except bone marrow.,
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