ORPHA:570371
Bartter syndrome type 5
Also known as: Bartter syndrome type V · Transient antenatal Bartter syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
98
59.2th percentile
Trials
0
Interventional, condition-specific
Researchers
689
Distinct authors in sample
Gene link
MAGED2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A form of antenatal Bartter syndrome characterized by early maternal polyhydramnios, excessive renal salt loss with secondary alkalosis in the period that completely disappears within the first months of life.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010503
- OMIM:300971
- UMLS:C4310820
Additional Mondo synonyms (5)
BARTS5 · Bartter syndrome caused by mutation in MAGED2 · Bartter syndrome, type 5, antenatal, transient · Bartter syndrome, type 5, antenatal, transient, X-linked recessive · MAGED2 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.”
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
Definitive — MAGED2
- LiteraturePresent
98 matched papers (67 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 (MAGED2).
GenCC classification: Definitive.
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?
98
98 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.
98 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).
67 in the last 10 years · high confidence · 59.2th percentile (publications denominator)
Phrase hits: 98 · MeSH hits: 0
Who's working on it?
689
Distinct author names in 98 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.
- 01Thakker RV9 papers · 2020
Mayo Clinic (B.L.C.), Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Rochester, Minnesota 55905; Harvard Medical School (E.M.B.), Division of Endocrinology, Diabetes and Hypertension, Boston, Massachusetts 02115; Skeletal Clinical Studies Unit (M.T.C.), Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892; Endocrine Unit and Pediatric Nephrology Unit (H.J.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114; First Department of Medicine (P.L.), Semmelweis University Medical School, Budapest 1085, Hungary; Division of Endocrinology and Diabetes (M.A.L.), Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104; Massachusetts General Hospital (M.M.M.), Boston, Massachusetts 02114; Columbia University College of Physicians & Surgeons (J.P.B.), New York, New York 10032; Department of Hospital Surgery and Oncology of St Petersburg State Pediatric Medical Academy (A.F.R.), St. Petersburg 194100, Russia; and Academic Endocrine Unit (R.V.T.), Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, OX3 7LJ, United Kingdom.
Papers in Europe PMC - 02Hannan FM6 papers · 2020
Department of Musculoskeletal Biology, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK.
Papers in Europe PMC - 03Christopoulos A4 papers · 2025
Monash Institute of Pharmaceutical Sciences and Department of Pharmacology, Monash University, Parkville, Victoria, 3052, Australia.
Papers in Europe PMC - 04Vargas-Poussou R4 papers · 2025
Department of Genetics, Centre de Références MARHEA, Hôpital Européen Georges Pompidou Assistance Publique Hôpitaux de Paris, Paris, France.
Papers in Europe PMC - 05Bockenhauer D3 papers · 2022
Department of Renal Medicine, University College London, London, UK.
Papers in Europe PMC - 06Brown EM3 papers · 2016
Center for Diagnostics and Therapeutics, Georgia State UniversityAtlanta, GA, USA; Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, Brigham and Women's HospitalBoston, MA, USA.
Papers in Europe PMC - 07Conigrave AD3 papers · 2020
Faculties of Science and Medicine, School of Life and Environmental Sciences, Charles Perkins Centre, University of Sydney Sydney, NSW, Australia.
Papers in Europe PMC - 08Davenport AP3 papers · 2025
Clinical Pharmacology Unit, University of Cambridge, Cambridge, CB2 0QQ, UK.
Papers in Europe PMC - 09Davies JA3 papers · 2025
Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, EH8 9XD, UK.
Papers in Europe PMC - 10Faccenda E3 papers · 2025
Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, EH8 9XD, 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 5" OR "Bartter syndrome type V" OR "Transient antenatal Bartter syndrome" OR "BARTS5" OR "Bartter syndrome caused by mutation in MAGED2" OR "Bartter syndrome, type 5, antenatal, transient" OR "Bartter syndrome, type 5, antenatal, transient, X-linked recessive" OR "MAGED2 Bartter syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Bartter syndrome type 5" OR "Bartter syndrome type V" OR "Transient antenatal Bartter syndrome" OR "BARTS5" OR "Bartter syndrome caused by mutation in MAGED2" OR "Bartter syndrome, type 5, antenatal, transient" OR "Bartter syndrome, type 5, antenatal, transient, X-linked recessive" OR "MAGED2 Bartter syndrome" OR "MAGED2"
Recall-expansion terms: MAGED2
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, 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 2026-07-27T18:31:05.916Z