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Heritable pulmonary arterial hypertension

Disease ID:434
Name:Heritable pulmonary arterial hypertension
Associated with:2 targets
Database Links
Orphanet: ORPHA275777


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


No ligand related data available for Heritable pulmonary arterial hypertension


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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]