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ORPHA:620217

Bartter syndrome type 1

low confidenceSubtype of disorder

Also known as: Bartter syndrome type I

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,974

Trials

0

Interventional, condition-specific

Researchers

950

Distinct authors in sample

Gene link

SLC12A1

Strong

Readiness

4/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

BARTS1 · Bartter disease type 1 · Bartter syndrome caused by mutation in SLC12A1 · Bartter syndrome, type 1 · SLC12A1 Bartter syndrome · hyperprostaglandin E syndrome 1

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 — SLC12A1

  2. LiteraturePresent

    1,974 matched papers (1,256 in last 10 years) Source

  3. Phenotype characterisedPresent

    41 HPO annotations (e.g. Hypercalcemia; Hypomagnesemia; Fever) Source

  4. Animal modelPresent

    2 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?

Yes — we know a specific gene responsible (SLC12A1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

41

Associated phenotypes · MONDO:0100344

  • Hypercalcemia
  • Hypomagnesemia
  • Fever
  • Constipation
  • Diarrhea

Showing 5 of 41 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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?

1,974

1,974 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.

1,974 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).

1,256 in the last 10 years · low confidence

Phrase hits: 157 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

950

Distinct author names in 157 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
    Laghmani K8 papers · 2024

    Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, USPC, Université Paris Descartes, Université Paris Diderot, 75006 Paris, France.

    Papers in Europe PMC
  2. 02
    Demaretz S7 papers · 2022

    Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, USPC, Université Paris Descartes, Université Paris Diderot, 75006 Paris, France.

    Papers in Europe PMC
  3. 03
    Gamba G6 papers · 2024

    Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico. gamba@biomedicas.unam.mx

    Papers in Europe PMC
  4. 04
    Bakhos-Douaihy D4 papers · 2022

    Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, USPC, Université Paris Descartes, Université Paris Diderot, 75006 Paris, France.

    Papers in Europe PMC
  5. 05
    Sayer JA4 papers · 2024

    Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle, United Kingdom john.sayer@newcastle.ac.uk.

    Papers in Europe PMC
  6. 06
    Seaayfan E4 papers · 2022

    Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, USPC, Université Paris Descartes, Université Paris Diderot, 75006 Paris, France.

    Papers in Europe PMC
  7. 07
    Vargas-Poussou R4 papers · 2022

    Département de Génétique, Hôpital Européen Georges Pompidou, Paris, France.

    Papers in Europe PMC
  8. 08
    Wang Y4 papers · 2025

    Xiamen Cardiovascular Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, Fujian, 363001, China.

    Papers in Europe PMC
  9. 09
    Bettinelli A3 papers · 2010

    Clinica Pediatrica II dell'Università e Istituti Clinici di Perfezionamento, Milano, Italy.

    Papers in Europe PMC
  10. 10
    Bockenhauer D3 papers · 2022

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

    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 1 — 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 1" OR "Bartter syndrome type I" OR "BARTS1" OR "Bartter disease type 1" OR "Bartter syndrome caused by mutation in SLC12A1" OR "Bartter syndrome, type 1" OR "SLC12A1 Bartter syndrome" OR "hyperprostaglandin E syndrome 1") OR (MESH:"Bartter syndrome, antenatal type 1") OR ("SLC12A1" OR "SLC12A1 syndrome" OR "SLC12A1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Bartter syndrome, antenatal type 1

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

"Bartter syndrome type 1" OR "Bartter syndrome type I" OR "BARTS1" OR "Bartter disease type 1" OR "Bartter syndrome caused by mutation in SLC12A1" OR "Bartter syndrome, type 1" OR "SLC12A1 Bartter syndrome" OR "hyperprostaglandin E syndrome 1" OR "Bartter syndrome, antenatal type 1"

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: suspect — strategies attempted: phrase, mesh; 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 (1974) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T19:09:33.192Z