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ORPHA:112

Bartter syndrome

low confidenceDisorder

Also known as: Renal tubular normotensive hypokalemic alkalosis with hypercalciuria · Salt-losing tubular disorder, Henle's loop type · Salt-wasting tubulopathy, Henle's loop type

Publications

4,668

Trials

0

Interventional, condition-specific

Researchers

1,111

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

Bartter disease · Bartter's syndrome · hypokalemic alkalosis · renal tubular normotensive hypokalemic alkalosis with hypercalciuria · salt-losing tubular disorder, Henle's loop type · salt-wasting tubulopathy, Henle's loop type

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    4,668 matched papers (1,768 in last 10 years) Source

  3. Phenotype characterisedPresent

    208 HPO annotations (e.g. Increased circulating aldosterone concentration; Muscle weakness; Polyhydramnios) Source

  4. Animal modelPresent

    7 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

208

Associated phenotypes · MONDO:0015231

  • Increased circulating aldosterone concentration
  • Muscle weakness
  • Polyhydramnios
  • Hypochloremia
  • Hyperprostaglandinuria

Showing 5 of 208 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0015231

CTD chemicals (MyDisease.info)

14 associated chemicals · 18 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Anti-Inflammatory Agents, Non-Steroidal · therapeutic
  • Aspirin · therapeutic
  • Indomethacin · therapeutic
  • Saralasin · therapeutic
  • Alprostadil · marker/mechanism
  • Amikacin · marker/mechanism
  • Capreomycin · marker/mechanism
  • Chlorthalidone · marker/mechanism
  • CHOP-B protocol · marker/mechanism
  • Dinoprostone · marker/mechanism
  • Diuretics · marker/mechanism
  • Furosemide · marker/mechanism

Pathways: Renin-angiotensin system; Renin secretion; Aldosterone-regulated sodium reabsorption; Collecting duct acid secretion; Gastric acid secretion; Neuronal System; Inwardly rectifying K+ channels; Potassium transport channels

MyDisease.info · MONDO:0015231

Literature

Is anyone studying this?

4,668

4,668 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=3967) is 59.

4,668 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,768 in the last 10 years · low confidence

Phrase hits: 4,668 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,111

Distinct author names in 200 sampled papers — 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.

  1. 01
    Nozu K6 papers · 2026

    Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

    Papers in Europe PMC
  2. 02
    Vargas-Poussou R6 papers · 2025

    Hôpital Européen Georges Pompidou, Assistance Publique Hôpitaux de Paris, Centre d'Investigation Clinique, Paris, France; Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris, France.

    Papers in Europe PMC
  3. 03
    Li Y5 papers · 2026

    Department of Laboratory Animal Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, P.R. China.

    Papers in Europe PMC
  4. 04
    Erfidan G4 papers · 2022

    Department of Pediatric Nephrology, University of Health Sciences, Izmir Tepecik Training and Research Hospital, Gaziler Street No-1 35180, Yenişehir, Konak, Izmir, Turkey. dr.gokcenerfidan@yahoo.com.

    Papers in Europe PMC
  5. 05
    Han Y4 papers · 2020

    Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, No. 5 Donghai Middle Road, Qingdao, 266071, PR China.

    Papers in Europe PMC
  6. 06
    Walsh SB4 papers · 2025

    Department of Renal Medicine, University College London, London, United Kingdom.

    Papers in Europe PMC
  7. 07
    Wang S4 papers · 2020

    Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, No. 5 Donghai Middle Road, Qingdao, 266071, PR China.

    Papers in Europe PMC
  8. 08
    Wu X4 papers · 2025

    Department of Geriatrics, Southwest Hospital, Military Medical University, Chongqing, China.

    Papers in Europe PMC
  9. 09
    Wu Y4 papers · 2023

    Department of Nephrology, Shengjing Hospital of China Medical University, Shenyang, China.

    Papers in Europe PMC
  10. 10
    Zhang X4 papers · 2025

    Genetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China; Pediatrics Department, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Observational and natural-history studies

3 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

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Bartter syndrome — check Associations / patient organisations on that page.

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.

("Bartter syndrome" OR "Renal tubular normotensive hypokalemic alkalosis with hypercalciuria" OR "Salt-losing tubular disorder, Henle's loop type" OR "Salt-wasting tubulopathy, Henle's loop type" OR "Bartter disease" OR "Bartter's syndrome" OR "hypokalemic alkalosis")

Run this search on Europe PMC

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

"Bartter syndrome" OR "Renal tubular normotensive hypokalemic alkalosis with hypercalciuria" OR "Salt-losing tubular disorder, Henle's loop type" OR "Salt-wasting tubulopathy, Henle's loop type" OR "Bartter disease" OR "Bartter's syndrome" OR "hypokalemic alkalosis"

Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (4668) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:28:17.715Z