ORPHA:756
Pseudohypoaldosteronism type 1
Also known as: PHA type 1 · PHA1
Publications
617
82.4th percentile
Trials
1
Interventional, condition-specific
Researchers
921
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the period with , vomiting and dehydration with biochemical findings of hyperkalaemia, and, elevated plasma aldosterone and renin concentration.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019161
- UMLS:C0268436
- NCIT:C123251
Additional Mondo synonyms (1)
pseudohypoaldosteronism, type I
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
617 matched papers (258 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
617
617 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
617 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).
258 in the last 10 years · medium confidence · 82.4th percentile (publications denominator)
Phrase hits: 617 · MeSH hits: 0
Who's working on it?
921
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.
- 01Tajima T8 papers · 2026
Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
Papers in Europe PMC - 02Bockenhauer D5 papers · 2025
UCL Centre for Nephrology and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom d.bockenhauer@ucl.ac.uk.
Papers in Europe PMC - 03Hummler E4 papers · 2022
Department of Biomedical Sciences, University of Lausanne, Lausanne, Switzerland.
Papers in Europe PMC - 04Riepe FG4 papers · 2013
Division of Pediatric Endocrinology, Department of Pediatrics, Christian Albrechts University Kiel, Germany.
Papers in Europe PMC - 05Shen Y4 papers · 2016
Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, P.R. China.
Papers in Europe PMC - 06Xie Y4 papers · 2024
Department of Nephrology, First Medical Center of Chinese PLA General Hospital, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing, China.
Papers in Europe PMC - 07Zennaro MC4 papers · 2017
INSERMParis Cardiovascular Research Center, Paris, France maria-christina.zennaro@inserm.fr.
Papers in Europe PMC - 08Adachi M3 papers · 2022
Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Mutsukawa, 2-138-4, Minami-ku, Yokohama, 232-8555, Japan. madachi@mars.sannet.ne.jp.
Papers in Europe PMC - 09Falhammar H3 papers · 2025
Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden.
Papers in Europe PMC - 10Kirabo A3 papers · 2023
Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN (A.K.).
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 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
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
4 observational studies match 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
- NCT06065852·RECRUITING·National Registry of Rare Kidney Diseases
Conditions: Adenine Phosphoribosyltransferase Deficiency · AH Amyloidosis · AHL Amyloidosis · AL Amyloidosis·Matched via name phrase
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 on the overview but are not added to the query string.
"Pseudohypoaldosteronism type 1" OR "PHA type 1" OR "pseudohypoaldosteronism, type I"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pseudohypoaldosteronism type 1" OR "PHA type 1" OR "pseudohypoaldosteronism, type I"
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: 1 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"pseudohypoaldosteronism"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: PHA1
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T15:14:11.629Z