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ORPHA:656130

PBX1-related congenital anomalies of kidney-urinary tract syndrome

low confidenceDisorder

Also known as: PBX1-related syndromic CAKUT

Query health: suspect — Source fetch failed for trials.

Publications

6,892

Trials

—

Interventional, condition-specific

Researchers

282

Distinct authors in sample

Gene link

PBX1

Definitive

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 (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.”

4/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedPresent

    Definitive — PBX1

  2. LiteraturePresent

    6,892 matched papers (4,157 in last 10 years) Source

  3. Phenotype characterisedPresent

    42 HPO annotations (e.g. Horseshoe kidney; Abnormal heart morphology; Respiratory insufficiency) 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 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)

42

Associated phenotypes · MONDO:0060549

  • Horseshoe kidney
  • Abnormal heart morphology
  • Respiratory insufficiency
  • Renal hypoplasia
  • Ambiguous genitalia

Showing 5 of 42 — 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?

6,892

6,892 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

6,892 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).

4,157 in the last 10 years · low confidence

Phrase hits: 21 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Abdul-Khaliq H2 papers · 2026

    Department of pediatric Cardiology, Saarland University Hospital, Homburg, Germany

    Papers in Europe PMC
  2. 02
    Antoniou P2 papers · 2026

    Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom

    Papers in Europe PMC
  3. 03
    Audain E2 papers · 2026

    Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, Kiel, Germany

    Papers in Europe PMC
  4. 04
    Bauer U2 papers · 2026

    Competence Network for Congenital Heart Defects, Berlin, Germany

    Papers in Europe PMC
  5. 05
    Berger F2 papers · 2026

    Deutsches Herzzentrum der Charité, Dept. of Congenital Heart Disease-Pediatric Cardiology, Berlin, Germany

    Papers in Europe PMC
  6. 06
    Breckpot J2 papers · 2026

    Department of Human Genetics, University of Leuven, KU Leuven, Leuven, Belgium

    Papers in Europe PMC
  7. 07
    Brook JD2 papers · 2026

    School of Life Sciences, University of Nottingham, University Park, Nottingham, United Kingdom

    Papers in Europe PMC
  8. 08
    Daehnert I2 papers · 2026

    Department of Pediatric Cardiology and Congenital Heart Disease, Heart Center, University of Leipzig, Leipzig, Germany

    Papers in Europe PMC
  9. 09
    Daly A2 papers · 2026

    Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom

    Papers in Europe PMC
  10. 10
    Dittrich 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 11 September 2026 · last trial check 31 July 2026

low 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.

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 PBX1-related congenital anomalies of kidney-urinary tract syndrome — 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.

("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") OR ("PBX1" OR "PBX1 syndrome" OR "PBX1-related")

Run this search on Europe PMC

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

"PBX1-related congenital anomalies of kidney-urinary tract syndrome"

Query health: suspect — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

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&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
  • Publication count (6892) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T19:59:47.763Z