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ORPHA:887

VACTERL/VATER association

low confidenceDisorder

Also known as: VACTERL association · VATER association · Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association

Query health: suspect — Source fetch failed for trials.

Publications

3,133

Trials

—

Interventional, condition-specific

Researchers

1,070

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare multiple anomalies characterized by the presence of at least three of the following malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

VACTERL Association · vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects 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.”

3/6 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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    3,133 matched papers (1,822 in last 10 years) Source

  3. Phenotype characterisedPresent

    102 HPO annotations (e.g. Polyhydramnios; Premature birth; Anal atresia) Source

  4. Animal modelPresent

    7 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

102

Associated phenotypes · MONDO:0008642

  • Polyhydramnios
  • Premature birth
  • Anal atresia
  • Tracheal stenosis
  • Aplasia/Hypoplasia of the lungs

Showing 5 of 102 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

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?

3,133

3,133 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.

3,133 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).

1,822 in the last 10 years · low confidence

Phrase hits: 1,818 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,070

Distinct author names in 200 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
    Solomon BD7 papers · 2018

    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35/Room 1B-207, Bethesda, MD 20892, USA. solomonb@mail.nih.gov

    Papers in Europe PMC
  2. 02
    De Beaufort CMC5 papers · 2026

    Department of Pediatric Surgery, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands. c.m.debeaufort@amsterdamumc.nl.

    Papers in Europe PMC
  3. 03
    Gorter RR5 papers · 2026

    Department of Pediatric Surgery, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.

    Papers in Europe PMC
  4. 04
    de Jong JR4 papers · 2026

    Department of Pediatric Surgery, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.

    Papers in Europe PMC
  5. 05
    Reutter H4 papers · 2025

    Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany. heiko.reutter@uk-erlangen.de.

    Papers in Europe PMC
  6. 06
    Alembik Y3 papers · 2026

    Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France.

    Papers in Europe PMC
  7. 07
    Bird LM3 papers · 2024

    Department of Pediatrics, Division of Genetics and Dysmorphology, UC San Diego/Rady Children's Hospital, San Diego, California, USA.

    Papers in Europe PMC
  8. 08
    Harumatsu T3 papers · 2026

    Department of Pediatric Surgery, Research Field in Medical and Health Sciences, Medical and Dental Area, Research and Education Assembly, Kagoshima University, Kagoshima, Japan.

    Papers in Europe PMC
  9. 09
    Ieiri S3 papers · 2026

    Department of Pediatric Surgery, Research Field in Medical and Health Sciences, Medical and Dental Area, Research and Education Assembly, Kagoshima University, Kagoshima, Japan.

    Papers in Europe PMC
  10. 10
    Kuijper CF3 papers · 2026

    Department of Pediatric Urology, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, the Netherlands.

    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 2026-07-29

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 VACTERL/VATER association — 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.

("VACTERL/VATER association" OR "VACTERL association" OR "VATER association" OR "Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association" OR "vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome") OR ("VACTERL" OR "VACTERL syndrome" OR "VACTERL-related")

Run this search on Europe PMC

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

"VACTERL/VATER association"

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=%22VACTERL%2FVATER%20association%22%20OR%20%22VACTERL%20association%22%20OR%20%22VATER%20association%22%20OR%20%22Vertebral%20defects-anal%20atresia-cardiac%20defects-tracheo-esophageal%20fistula-renal%20anomalies-limb%20abnormalities%20association%22%20OR%20%22vertebral%20abnormalities%2C%20anal%20atresia%2C%20Cardiac%20abnormalities%2C%20tracheo-esophageal%20fistula%2C%20renal%20anomalies%2C%20limb%20defects%20syndrome%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 (3133) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T15:46:07.690Z