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Hereditary hemorrhagic telangiectasia type 1 (HHT1)

Disease ID:1170
Name:Hereditary hemorrhagic telangiectasia type 1 (HHT1)
Associated with:1 target
hemorrhagic telangiectasia type 1 | Osler hemorrhagic telangiectasia syndrome | Osler-Rendu-Weber disease
An autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Mucosal involvement leads to complications such as epistaxis and gastrointestinal bleeding and visceral tissues involved include the lungs, liver, and brain. HHT1 is caused by heterozygous mutation in the gene encoding endoglin (ENG) on chromosome 9q34.
Database Links
OMIM: 187300
Orphanet: ORPHA774


endoglin (CD105)


No ligand related data available for Hereditary hemorrhagic telangiectasia type 1 (HHT1)