ORPHA:620217
Bartter syndrome type 1
Also known as: Bartter syndrome type I
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
157
66.6th percentile
Trials
0
Interventional, condition-specific
Researchers
950
Distinct authors in sample
Gene link
SLC12A1
Strong
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0100344
- MeSH:C537652
- OMIM:601678
- UMLS:C1866495
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — SLC12A1
- LiteraturePresent
157 matched papers (102 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 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)
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?
157
157 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
157 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).
102 in the last 10 years · high confidence · 66.6th percentile (publications denominator)
Phrase hits: 157 · MeSH hits: 0
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.
- 01Laghmani 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 - 02Demaretz 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 - 03Gamba G6 papers · 2024
Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico. gamba@biomedicas.unam.mx
Papers in Europe PMC - 04Bakhos-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 - 05Sayer 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 - 06Seaayfan 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 - 07Vargas-Poussou R4 papers · 2022
Département de Génétique, Hôpital Européen Georges Pompidou, Paris, France.
Papers in Europe PMC - 08Wang Y4 papers · 2025
Xiamen Cardiovascular Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, Fujian, 363001, China.
Papers in Europe PMC - 09Bettinelli A3 papers · 2010
Clinica Pediatrica II dell'Università e Istituti Clinici di Perfezionamento, Milano, Italy.
Papers in Europe PMC - 10Bockenhauer 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
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.
"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"
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" OR "SLC12A1"
Recall-expansion terms: SLC12A1
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, recall-expansion; 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
Ingested 2026-07-27T19:09:33.192Z