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ORPHA:171871

Renal pseudohypoaldosteronism type 1

high confidenceSubtype of disorder

Also known as: Autosomal dominant PHA1 · Autosomal dominant pseudohypoaldosteronism type 1 · Renal PHA1

Publications

216

73.4th percentile

Trials

4

Interventional, condition-specific

Researchers

1,079

Distinct authors in sample

Gene link

NR3C2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of pseudohypoaldosteronism type 1 characterized by mild mineralocorticoid resistance that is restricted to the kidneys and that usually improves in early childhood. Typical presentation is in the period with weight loss, , vomiting and dehydration in association with hyponatremia, hyperkalemia and as well as elevated aldosterone and renin levels.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

PHA1A · autosomal dominant pseudohypoaldosteronism type 1 · pseudohypoaldosteronism type i, autosomal dominant

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — NR3C2

  2. LiteraturePresent

    216 matched papers (146 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (NR3C2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

216

216 papers have ever been published on this condition (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=5449) is 41.

216 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

146 in the last 10 years · high confidence · 73.4th percentile (publications denominator)

Phrase hits: 216 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,079

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Riepe FG11 papers · 2013

    Division of Paediatric Endocrinology, Department of Paediatrics, Christian Albrechts University, University Hospital Schleswig-Holstein, Kiel, Germany. friepe@pediatrics.uni-kiel.de

    Papers in Europe PMC
  2. 02
    Hannan FM9 papers · 2026

    Academic Endocrine Unit (F.M.H., G.V.W., V.N.B., M.A.N., E.K., R.V.T.), Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, OX3 7LJ, United Kingdom; Medical Research Council (MRC) Mammalian Genetics Unit and Mary Lyon Centre (T.A.H., R.D.C.), MRC Harwell, Harwell Science and Innovation Campus, Oxfordshire, OX11 0RD, United Kingdom; Department of Medicine (W.D.F.), Norwich Medical School, University of East Anglia, Norwich, NR4 7TJ, United Kingdom; Laboratory of Bioorganic Chemistry (J.H.), National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland 20892; and Albert Einstein College of Medicine (A.M.S.), Bronx, New York 10461.

    Papers in Europe PMC
  3. 03
    Thakker RV9 papers · 2026

    Academic Endocrine Unit (F.M.H., G.V.W., V.N.B., M.A.N., E.K., R.V.T.), Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, OX3 7LJ, United Kingdom; Medical Research Council (MRC) Mammalian Genetics Unit and Mary Lyon Centre (T.A.H., R.D.C.), MRC Harwell, Harwell Science and Innovation Campus, Oxfordshire, OX11 0RD, United Kingdom; Department of Medicine (W.D.F.), Norwich Medical School, University of East Anglia, Norwich, NR4 7TJ, United Kingdom; Laboratory of Bioorganic Chemistry (J.H.), National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland 20892; and Albert Einstein College of Medicine (A.M.S.), Bronx, New York 10461.

    Papers in Europe PMC
  4. 04
    Sippell WG7 papers · 2007
    Papers in Europe PMC
  5. 05
    Zennaro MC7 papers · 2020

    INSERMParis Cardiovascular Research Center, Paris, France maria-christina.zennaro@inserm.fr.

    Papers in Europe PMC
  6. 06
    Nemeth EF5 papers · 2025

    MetisMedica, Toronto, ON, Canada.

    Papers in Europe PMC
  7. 07
    Elajnaf T4 papers · 2026

    Nuffield Department of Women's & Reproductive Health, University of Oxford, Oxford OX3 9DU, UK.

    Papers in Europe PMC
  8. 08
    Lombès M4 papers · 2009
    Papers in Europe PMC
  9. 09
    Stevenson M4 papers · 2026

    Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), University of Oxford, Oxford, UK.

    Papers in Europe PMC
  10. 10
    Stewart M4 papers · 2026

    MRC Mammalian Genetics Unit and Mary Lyon Centre MRC Harwell Institute, Harwell Science and Innovation Campus Oxford UK.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).

high confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: pseudohypoaldosteronism type 1

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

This 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 on the overview but are not added to the query string.

"Renal pseudohypoaldosteronism type 1" OR "Autosomal dominant PHA1" OR "Autosomal dominant pseudohypoaldosteronism type 1" OR "Renal PHA1" OR "PHA1A" OR "pseudohypoaldosteronism type i, autosomal dominant"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Renal pseudohypoaldosteronism type 1" OR "Autosomal dominant PHA1" OR "Autosomal dominant pseudohypoaldosteronism type 1" OR "Renal PHA1" OR "PHA1A" OR "pseudohypoaldosteronism type i, autosomal dominant" OR "NR3C2"

Recall-expansion terms: NR3C2

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 4 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"pseudohypoaldosteronism type 1"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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

Ingested 2026-07-27T08:44:39.599Z