ORPHA:757
Pseudohypoaldosteronism type 2
Also known as: Chloride shunt syndrome · Familial hyperkalemic hypertension · Gordon hyperkalemia-hypertension syndrome · Hyperkalemia-hypertension syndrome, Gordon type · Hypertensive hyperkalemia · Mineralocorticoid resistant hyperkalemia · PHA2 · PHAII · Spitzer-Weinstein syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
A rare genetic form of hypertension characterized by hyperkalemia, mild hyperchloremic , normal or elevated aldosterone, low renin, with normal renal glomerular filtration rate (GFR).
How rare: How common this is has not been clearly measured.
Is anyone studying this?
1,344
1,344 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=183) is 38.
1,344 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).
605 in the last 10 years · low confidence
Is a treatment being tested?
1
trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 1 trial are registered for pseudohypoaldosteronism, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 26 July 2026
1
trials for pseudohypoaldosteronism, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
1 interventional trial — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 65.3th percentile).
low confidence · 65.3th 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?
875
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.
- 01Ellison DH16 papers · 2025
Division of Nephrology and Hypertension, Department of Medicine, Oregon Health and Science University, Portland, Oregon; ellisond@ohsu.edu.
Papers in Europe PMC - 02Uchida S13 papers · 2025
Department of Nephrology, Institute of Science Tokyo, Tokyo 113-8519, Japan.
Papers in Europe PMC - 03Gamba G12 papers · 2025
Molecular Physiology Unit, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, and Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, Mexico City 14080, Mexico; email: gamba@biomedicas.unam.mx.
Papers in Europe PMC - 04McCormick JA12 papers · 2024
Division of Nephrology and Hypertension, Department of Medicine, Oregon Health and Science University, Portland, Oregon, United States.
Papers in Europe PMC - 05Sohara E10 papers · 2025
Department of Nephrology, Institute of Science Tokyo, Tokyo 113-8519, Japan.
Papers in Europe PMC - 06Cornelius RJ9 papers · 2024
Division of Nephrology and Hypertension, Department of Medicine, Oregon Health and Science University, Portland, Oregon.
Papers in Europe PMC - 07Castañeda-Bueno M8 papers · 2025
Department of Nephrology and Mineral Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Papers in Europe PMC - 08Mori T8 papers · 2025
Department of Nephrology, Institute of Science Tokyo, Tokyo 113-8519, Japan.
Papers in Europe PMC - 09Zhang Y8 papers · 2026
Department of Neurology, the Second Affiliated Hospital of Mudanjiang Medical University, No.15 Dongxiaoyun Street, Mudanjiang, Heilongjiang 157009, China.
Papers in Europe PMC - 10Maeoka Y7 papers · 2024
Division of Nephrology and Hypertension, Department of Medicine, Oregon Health and Science University, Portland, Oregon, United States.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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.
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.
None of the matched observational studies is currently listed as recruiting.
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.
"Pseudohypoaldosteronism type 2" OR "Chloride shunt syndrome" OR "Familial hyperkalemic hypertension" OR "Gordon hyperkalemia-hypertension syndrome" OR "Hyperkalemia-hypertension syndrome, Gordon type" OR "Hypertensive hyperkalemia" OR "Mineralocorticoid resistant hyperkalemia" OR "PHAII" OR "Spitzer-Weinstein syndrome" OR "pseudohypoaldosteronism, type 2" OR "pseudohypoaldosteronism, type II"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pseudohypoaldosteronism type 2" OR "Chloride shunt syndrome" OR "Familial hyperkalemic hypertension" OR "Gordon hyperkalemia-hypertension syndrome" OR "Hyperkalemia-hypertension syndrome, Gordon type" OR "Hypertensive hyperkalemia" OR "Mineralocorticoid resistant hyperkalemia" OR "PHAII" OR "Spitzer-Weinstein syndrome" OR "pseudohypoaldosteronism, type 2" OR "pseudohypoaldosteronism, type II" OR "inherited pseudohypoaldosteronism"
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 · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C1449844 NCIT:C123252
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: PHA2
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
- Publication count (1344) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity