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Aldosterone-producing adenoma

Disease ID:50
Name:Aldosterone-producing adenoma
Associated with:1 target
Database Links
Orphanet: ORPHA85142


Role:  Hyperaldosteronism with adrenal hypertension
Comments:  For an updated list of mutations (>50) see Table 5 in Ortner et al. (2020).
References:  1-3
Mutations:  Cav1.3 is associated with 9 mutation. Click here for details


No ligand related data available for Aldosterone-producing adenoma


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1. Azizan EA, Poulsen H, Tuluc P, Zhou J, Clausen MV, Lieb A, Maniero C, Garg S, Bochukova EG, Zhao W et al.. (2013) Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. Nat Genet, 45 (9): 1055-60. [PMID:23913004]

2. Ortner NJ, Kaserer T, Copeland JN, Striessnig J. (2020) De novo CACNA1D Ca2+ channelopathies: clinical phenotypes and molecular mechanism. Pflugers Arch, 472 (7): 755-773. [PMID:32583268]

3. Scholl UI, Goh G, Stölting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW et al.. (2013) Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet, 45 (9): 1050-4. [PMID:23913001]