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ORPHA:293864

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

low confidenceDisorder

Publications

1,013

Trials

0

Interventional, condition-specific

Researchers

876

Distinct authors in sample

Gene link

RFX6

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, potentially fatal, genetic, visceral syndrome characterized by diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, , malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

Mitchell-Riley syndrome · hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder 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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — RFX6

  2. LiteraturePresent

    1,013 matched papers (795 in last 10 years) Source

  3. Phenotype characterisedPresent

    18 HPO annotations (e.g. Meckel diverticulum; Acholic stools; Biliary atresia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (RFX6).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

18

Associated phenotypes · MONDO:0017400

  • Meckel diverticulum
  • Acholic stools
  • Biliary atresia
  • Duodenal atresia
  • Intestinal malrotation

Showing 5 of 18 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

1,013

1,013 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.

1,013 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).

795 in the last 10 years · low confidence

Phrase hits: 97 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

876

Distinct author names in 97 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.

  1. 01
    Pereira-da-Silva L4 papers · 2021

    NICU, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, 1169-045 Lisbon, Portugal.

    Papers in Europe PMC
  2. 02
    Chandra V3 papers · 2024

    Department of Endocrinology, Metabolism and Diabetes, Inserm U1016, Cochin Institute, Paris, France.

    Papers in Europe PMC
  3. 03
    Flanagan SE3 papers · 2024

    Institute of Biomedical and Clinical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.

    Papers in Europe PMC
  4. 04
    Gradwohl G3 papers · 2019

    Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale U964, Centre National de Recherche Scientifique UMR7104, Université de Strasbourg, Illkirch 67404, France. Electronic address: gradwohl@igbmc.fr.

    Papers in Europe PMC
  5. 05
    Hattersley AT3 papers · 2024

    Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.

    Papers in Europe PMC
  6. 06
    Keime C3 papers · 2019

    Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale U964, Centre National de Recherche Scientifique UMR7104, Université de Strasbourg, Illkirch 67404, France.

    Papers in Europe PMC
  7. 07
    Krishnamurthy M3 papers · 2026

    Center for Stem Cell and Organoid Medicine (CuSTOM), Cincinnati Children's Hospital Medical Center (CCHMC), Cincinnati, OH, USA.

    Papers in Europe PMC
  8. 08
    Liu Y3 papers · 2024

    Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.

    Papers in Europe PMC
  9. 09
    Lu Y3 papers · 2024

    Center for Molecular Medicine, National Children's Medical Center, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.

    Papers in Europe PMC
  10. 10
    Martín MG3 papers · 2020

    Division of Gastroenterology and Nutrition, Department of Pediatrics, Mattel Children's Hospital and David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder 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.

("Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome" OR "Mitchell-Riley syndrome" OR "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome") OR ("RFX6" OR "RFX6 syndrome" OR "RFX6-related")

Run this search on Europe PMC

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

"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome" OR "Mitchell-Riley syndrome" OR "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; 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
  • Publication count (1013) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T12:23:55.139Z