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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: | 434 | |
Name: | Heritable pulmonary arterial hypertension | |
Associated with: | 2 targets |
Database Links |
Orphanet:
ORPHA275777 |
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.
✖KCa2.3 | |
Role: | Doxicyclin-induced suppression of KCa2.3 expression in transgenic mice overexpressing KCa2.3 leads to an elevation in blood pressure. In mice KCa2.3 overexpression in the absence of KCa3.1 reduces blood pressure compared with double knockout of these two genes. |
Therapeutic use: | KCa2.3 activators have been proposed for the treatment of hypertension. |
Comments: | KCa2.3 mutation (V450L) associated with autosomal dominant idiopathic non-cirrhotic portal hypertension. |
References: | 1-2 |
activin A receptor type IL |
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 Heritable pulmonary arterial hypertension
1. Brähler S, Kaistha A, Schmidt VJ, Wölfle SE, Busch C, Kaistha BP, Kacik M, Hasenau AL, Grgic I, Si H et al.. (2009) Genetic deficit of SK3 and IK1 channels disrupts the endothelium-derived hyperpolarizing factor vasodilator pathway and causes hypertension. Circulation, 119 (17): 2323-32. [PMID:19380617]
2. Taylor MS, Bonev AD, Gross TP, Eckman DM, Brayden JE, Bond CT, Adelman JP, Nelson MT. (2003) Altered expression of small-conductance Ca2+-activated K+ (SK3) channels modulates arterial tone and blood pressure. Circ Res, 93 (2): 124-31. [PMID:12805243]