Pseudohyperaldosteronism type 2

Disease ID:795
Name:Pseudohyperaldosteronism type 2
Associated with:1 target
Synonyms
Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy
Database Links
OMIM: 605115
Orphanet: ORPHA88660

Targets

Mineralocorticoid receptor
Comments:  Alteration at the receptor level: S819L mutant gains function.
References:  1-2
Mutations:  Mineralocorticoid receptor is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Pseudohyperaldosteronism type 2

References

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1. Sartorato P, Cluzeaud F, Fagart J, Viengchareun S, Lombès M, Zennaro MC. (2004) New naturally occurring missense mutations of the human mineralocorticoid receptor disclose important residues involved in dynamic interactions with deoxyribonucleic acid, intracellular trafficking, and ligand binding. Mol. Endocrinol., 18 (9): 2151-65. [PMID:15192075]

2. Tajima T, Kitagawa H, Yokoya S, Tachibana K, Adachi M, Nakae J, Suwa S, Katoh S, Fujieda K. (2000) A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. J. Clin. Endocrinol. Metab., 85 (12): 4690-4. [PMID:11134129]