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telangiectasia, hereditary hemorrhagic, type 2

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene.
Uniprot Description A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.
Mondo Term and Equivalent IDs
MONDO:0010880:  telangiectasia, hereditary hemorrhagic, type 2
GARD:0009901: