ORPHA:556037
Late-onset familial hypoaldosteronism
Also known as: Late-onset familial hyperreninemic hypoaldosteronism · Mild aldosterone synthase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, , and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.
How rare: How common this is has not been clearly measured.
Is anyone studying this?
1
1 paper have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
1 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
1 in the last 10 years · high confidence · 9.6th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 26 July 2026
0
no matched trials for familial hypoaldosteronism, the broader category this belongs to either
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
5
Distinct author names in 1 sampled paper — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Aftab S1 paper · 2023
Department of Paediatric Endocrinology and Diabetes, University of Child Health Sciences, The Children's Hospital, Lahore, PAK.
Papers in Europe PMC - 02Cheema HA1 paper · 2023
Department of Paediatric Gastroenterology, Hepatology and Nutrition, University of Child Health Sciences, The Children's Hospital, Lahore, PAK.
Papers in Europe PMC - 03Naseem A1 paper · 2023
Department of Paediatric Endocrinology and Diabetes, University of Child Health Sciences, The Children's Hospital, Lahore, PAK.
Papers in Europe PMC - 04Saeed A1 paper · 2023
Department of Paediatric Gastroenterology, Hepatology and Nutrition, University of Child Health Sciences, The Children's Hospital, Lahore, PAK.
Papers in Europe PMC - 05Ur Rehman S1 paper · 2023
Department of Paediatrics and Neonatology, Hameed Latif Hospital, Lahore, PAK.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
Broader category familial hypoaldosteronism also has no matched interventional trial. See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Late-onset familial hypoaldosteronism" OR "Late-onset familial hyperreninemic hypoaldosteronism" OR "Mild aldosterone synthase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Late-onset familial hypoaldosteronism" OR "Late-onset familial hyperreninemic hypoaldosteronism" OR "Mild aldosterone synthase deficiency" OR "hypoaldosteronism disease"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C5680172
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus