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This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 1170 | |
Name: | Hereditary hemorrhagic telangiectasia type 1 (HHT1) | |
Associated with: | 1 target |
Synonyms |
hemorrhagic telangiectasia type 1 | Osler hemorrhagic telangiectasia syndrome | Osler-Rendu-Weber disease |
Description |
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 |
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖endoglin (CD105) |
Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖No ligand related data available for Hereditary hemorrhagic telangiectasia type 1 (HHT1)