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ORPHA:93605

Bartter syndrome type 3

low confidenceSubtype of disorder

Also known as: Bartter syndrome type III

Publications

1,235

Trials

0

Interventional, condition-specific

Researchers

1,012

Distinct authors in sample

Gene link

CLCNKB

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A form of Bartter syndrome characterized by a later age at onset than the other types of Bartter syndrome, typically presenting beyond the first year of life with , hypokalemic and hypochloremic alkalosis, increased levels of plasma renin and aldosterone and low to normal blood pressure.

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 (3)

BARTS3 · Bartter disease type 3 · adult Bartter syndrome

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — CLCNKB

  2. LiteraturePresent

    1,235 matched papers (708 in last 10 years) Source

  3. Phenotype characterisedPresent

    19 HPO annotations (e.g. Nephrocalcinosis; Impaired renal tubular reabsorption of chloride; Increased urinary potassium) Source

  4. Animal modelPresent

    1 genotype model (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?

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

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

19

Associated phenotypes · MONDO:0011822

  • Nephrocalcinosis
  • Impaired renal tubular reabsorption of chloride
  • Increased urinary potassium
  • Increased circulating renin concentration
  • Increased circulating aldosterone concentration

Showing 5 of 19 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,235

1,235 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.

1,235 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).

708 in the last 10 years · low confidence

Phrase hits: 170 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,012

Distinct author names in 170 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
    Bockenhauer D10 papers · 2023

    University College London, Institute of Child Health and Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

    Papers in Europe PMC
  2. 02
    Vargas-Poussou R7 papers · 2022

    Reference Center for Hereditary Kidney and Childhood Diseases (MAladies Renales Hereditaires de l'Enfant et de l'Adulte), Paris, France.

    Papers in Europe PMC
  3. 03
    Andrini O5 papers · 2024

    UPMC Université Paris 06, UMR_S 872, Team 3, 75006, Paris, France.

    Papers in Europe PMC
  4. 04
    de Baaij JHF5 papers · 2022

    Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  5. 05
    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
  6. 06
    Pusch M5 papers · 2023

    Institute of Biophysics, National Research Council, 16149 Genova, Italy.

    Papers in Europe PMC
  7. 07
    Schlingmann KP5 papers · 2023

    Department of General Pediatrics, Pediatric Nephrology, University Children's Hospital, Munster, Germany.

    Papers in Europe PMC
  8. 08
    Teulon J5 papers · 2020

    Unité Mixte de Recherche en Santé 1138, Team 3, Université Pierre et Marie Curie, Paris, France.

    Papers in Europe PMC
  9. 09
    Walsh SB5 papers · 2025

    Centre for Nephrology, University College London, London, UK; and.

    Papers in Europe PMC
  10. 10
    Gamba G4 papers · 2022

    Department of Nephrology and Mineral Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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.

Broader category Bartter syndrome also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: Bartter syndrome

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.

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 2026-07-30

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 type 3 — 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 type 3" OR "Bartter syndrome type III" OR "BARTS3" OR "Bartter disease type 3" OR "adult Bartter syndrome") OR ("CLCNKB" OR "CLCNKB syndrome" OR "CLCNKB-related")

Run this search on Europe PMC

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

"Bartter syndrome type 3" OR "Bartter syndrome type III" OR "BARTS3" OR "Bartter disease type 3" OR "adult Bartter syndrome"

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

Parent-category trials query:

"Bartter syndrome"

Query health: ok — strategies attempted: phrase; 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
  • Publication count (1235) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T04:27:48.340Z