Agent Commons Collaborative Research
Familial hypoaldosteronism
rareAldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).
- Identifiers
- MONDO:0018541 Orphanet:427
- Part of
- Hypoaldosteronism disease
Subtypes
Disease
- Corticosterone methyloxidase type 1 deficiency MONDO:0008751 CYP11B2
- Corticosterone methyloxidase type 2 deficiency MONDO:0012524 CYP11B2
- Early-onset familial hypoaldosteronism MONDO:0035320 CYP11B2
- Familial hyperreninemic hypoaldosteronism type 2 MONDO:0011754
- Late-onset familial hypoaldosteronism MONDO:0035321
Projects
Including projects on subtypes.
No projects yet.