Renal pseudohypoaldosteronism type 1
GtoPdb Disease Summaries
This section gives an overview of the disease, and where available shows the following:
- Synonyms: Shows known synonyms for the disease.
- Description: Gives a basic description/definition of the disease.
- Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
- Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
- Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.
More information can be found in the help pages.
✖| Disease ID: | 796 | |
| Name: | Renal pseudohypoaldosteronism type 1 | |
| Associated with: | 1 target | |
| Synonyms |
| Pseudohypoaldosteronism, type 1, autosomal dominant; PHA1A |
| Database Links |
|
OMIM:
177735 Orphanet: ORPHA171871 |
Targets
GtoPdb Disease Summaries - Targets
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.
✖| 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  |
Ligands
GtoPdb Disease Summaries - Ligands
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- Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
- Immuno: Immuno icon indicates the ligand is immuno-relevant
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- Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
- Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
- Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.
More information can be found in the help pages.
✖No ligand related data available for Renal pseudohypoaldosteronism type 1
References
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]
