ORPHA:656130
PBX1-related congenital anomalies of kidney-urinary tract syndrome
Also known as: PBX1-related syndromic CAKUT
Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.
Publications
21
37.8th percentile
Trials
—
Interventional, condition-specific
Researchers
282
Distinct authors in sample
Gene link
PBX1
Definitive
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:0060549
- OMIM:617641
- UMLS:C4539968
Additional Mondo synonyms (1)
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedPresent
Definitive — PBX1
- LiteraturePresent
21 matched papers (21 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 checked
Trial fetch failed or incomplete
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 (PBX1).
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?
21
21 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.
21 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).
21 in the last 10 years · high confidence · 37.8th percentile (publications denominator)
Phrase hits: 21 · MeSH hits: 0
Who's working on it?
282
Distinct author names in 21 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Abdul-Khaliq H2 papers · 2026
Department of pediatric Cardiology, Saarland University Hospital, Homburg, Germany
Papers in Europe PMC - 02Antoniou P2 papers · 2026
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom
Papers in Europe PMC - 03Audain E2 papers · 2026
Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, Kiel, Germany
Papers in Europe PMC - 04Bauer U2 papers · 2026
Competence Network for Congenital Heart Defects, Berlin, Germany
Papers in Europe PMC - 05Berger F2 papers · 2026
Deutsches Herzzentrum der Charité, Dept. of Congenital Heart Disease-Pediatric Cardiology, Berlin, Germany
Papers in Europe PMC - 06Breckpot J2 papers · 2026
Department of Human Genetics, University of Leuven, KU Leuven, Leuven, Belgium
Papers in Europe PMC - 07Brook JD2 papers · 2026
School of Life Sciences, University of Nottingham, University Park, Nottingham, United Kingdom
Papers in Europe PMC - 08Daehnert I2 papers · 2026
Department of Pediatric Cardiology and Congenital Heart Disease, Heart Center, University of Leipzig, Leipzig, Germany
Papers in Europe PMC - 09Daly A2 papers · 2026
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom
Papers in Europe PMC - 10Dittrich S2 papers · 2026
Department of Pediatric Cardiology, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg (FAU), Erlangen, Germany
Papers in Europe PMC
Clinical research
Is a treatment being tested?
—
interventional trials for this specific condition
We could not load trial data for this condition right now.
Data as of 27 July 2026
high confidence
Recruiting interventional trials
From the matched ClinicalTrials.gov set
Trial data could not be loaded for this build. This is not the same as finding zero interventional 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.
"PBX1-related congenital anomalies of kidney-urinary tract syndrome" OR "PBX1-related congenital anomalies of the kidney-urinary tract syndrome" OR "PBX1-related syndromic CAKUT" OR "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay" OR "congenital anomalies of the kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
(empty)
Recall-expansion terms: PBX1
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22PBX1-related%20congenital%20anomalies%20of%20kidney-urinary%20tract%20syndrome%22%20OR%20%22PBX1-related%20congenital%20anomalies%20of%20the%20kidney-urinary%20tract%20syndrome%22%20OR%20%22PBX1-related%20syndromic%20CAKUT%22%20OR%20%22congenital%20anomalies%20of%20kidney%20and%20urinary%20tract%20syndrome%20with%20or%20without%20hearing%20loss%2C%20abnormal%20ears%2C%20or%20developmental%20delay%22%20OR%20%22congenital%20anomalies%20of%20the%20kidney%20and%20urinary%20tract%20syndrome%20with%20or%20without%20hearing%20loss%2C%20abnormal%20ears%2C%20or%20developmental%20delay%22%20OR%20%22PBX1%22&format=json&pageSize=100&countTotal=true
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 2026-07-27T19:59:47.763Z