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Renal pseudohypoaldosteronism type 1

Disease ID:796
Name:Renal pseudohypoaldosteronism type 1
Associated with:1 target
Pseudohypoaldosteronism, type 1, autosomal dominant; PHA1A
Database Links
OMIM: 177735
Orphanet: ORPHA171871


Mineralocorticoid receptor
Role:  A mild form of mineralocorticoid resistance involving only one allele. This is distinct from the severe autosomal recessive form of PHA1 which involves mutations in the epithelial sodium channel genes. Recent studies have addressed the broader consequences of haploinsufficiency that characterises PHA1 with MR mutations for the pituitary adrenal axis (Walker et al. 2014) and for the cardiovascular system (Escoubet et al., 2013).
Comments:  Alteration at the receptor level: G633R, Q776R, L924P and L979P mutants lose activity.
References:  1-5
Mutations:  Mineralocorticoid receptor is associated with 4 mutation. Click here for details


No ligand related data available for Renal pseudohypoaldosteronism type 1


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1. Escoubet B, Couffignal C, Laisy JP, Mangin L, Chillon S, Laouénan C, Serfaty JM, Jeunemaitre X, Mentré F, Zennaro MC. (2013) Cardiovascular effects of aldosterone: insight from adult carriers of mineralocorticoid receptor mutations. Circ Cardiovasc Genet, 6 (4): 381-90. [PMID:23852419]

2. 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]

3. 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]

4. Walker BR, Andrew R, Escoubet B, Zennaro MC. (2014) Activation of the hypothalamic-pituitary-adrenal axis in adults with mineralocorticoid receptor haploinsufficiency. J Clin Endocrinol Metab, 99 (8): E1586-91. [PMID:24712576]

5. Zennaro MC, Fernandes-Rosa F. (2017) 30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations. J Endocrinol, 234 (1): T93-T106. [PMID:28348114]