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ORPHA:79403

Junctional epidermolysis bullosa with pyloric atresia

low confidenceDisorder

Also known as: Carmi syndrome · JEB with pyloric atresia · JEB-PA

Publications

87,313

Trials

0

Interventional, condition-specific

Researchers

910

Distinct authors in sample

Gene link

ITGA6, ITGB4

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A severe form of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and atresia of the pylorus and rarely of other portions of the gastrointestinal tract.

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 (3)

epidermolysis bullosa junctionalis with pyloric atresia · epidermolysis bullosa, junctional, with pyloric stenosis · junctional epidermolysis bullosa with pyloric atresia

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — ITGA6, ITGB4

  2. LiteraturePresent

    87,313 matched papers (41,566 in last 10 years) Source

  3. Phenotype characterisedPresent

    43 HPO annotations (e.g. Nausea and vomiting; Abdominal distention; Congenital pyloric atresia) Source

  4. Animal modelPresent

    1 genotype model (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 trialPartial

    None under the specific name; 10 for broader category junctional epidermolysis bullosa

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 (ITGA6, ITGB4).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

43

Associated phenotypes · MONDO:0009183

  • Nausea and vomiting
  • Abdominal distention
  • Congenital pyloric atresia
  • Abnormal blistering of the skin
  • Intestinal atresia

Showing 5 of 43 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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?

87,313

87,313 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.

87,313 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).

41,566 in the last 10 years · low confidence

Phrase hits: 170 · MeSH hits: 4

Open Europe PMC search

Who's working on it?

910

Distinct author names in 170 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
    Meneguzzi G9 papers · 2016

    INSERM U1081, CNRS UMR7284, University of Nice, Sophia Antipolis, Faculty of Medicine, 28 Avenue Valombrose, F-06107, Nice, France.

    Papers in Europe PMC
  2. 02
    Uitto J8 papers · 2010
    Papers in Europe PMC
  3. 03
    Has C7 papers · 2023

    Department of Dermatology, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Breisgau, Germany.

    Papers in Europe PMC
  4. 04
    Pulkkinen L7 papers · 2001

    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

    Papers in Europe PMC
  5. 05
    Shimizu H7 papers · 2017

    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

    Papers in Europe PMC
  6. 06
    McGrath JA6 papers · 2015
    Papers in Europe PMC
  7. 07
    Sonnenberg A6 papers · 2021

    Division of Cell Biology, The Netherlands Cancer Institute, Amsterdam, Netherlands.

    Papers in Europe PMC
  8. 08
    Zambruno G6 papers · 2022

    Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

    Papers in Europe PMC
  9. 09
    Jones JC5 papers · 2014

    Department of Cell and Molecular Biology, Northwestern University Medical School , Chicago, Illinois.

    Papers in Europe PMC
  10. 10
    Nakamura H5 papers · 2011

    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15, West 7, Sapporo 060-8638, Japan.

    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). 10 trials are registered for junctional epidermolysis bullosa, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

10 interventional trials matched junctional epidermolysis bullosa, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: junctional epidermolysis bullosa

10

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 Junctional epidermolysis bullosa with pyloric atresia — 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.

("Junctional epidermolysis bullosa with pyloric atresia" OR "Carmi syndrome" OR "JEB with pyloric atresia" OR "JEB-PA" OR "epidermolysis bullosa junctionalis with pyloric atresia" OR "epidermolysis bullosa, junctional, with pyloric stenosis") OR (MESH:"Epidermolysis bullosa with pyloric atresia") OR ("ITGA6" OR "ITGA6 syndrome" OR "ITGA6-related" OR "ITGB4" OR "ITGB4 syndrome" OR "ITGB4-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Epidermolysis bullosa with pyloric atresia

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

"Junctional epidermolysis bullosa with pyloric atresia" OR "Carmi syndrome" OR "JEB with pyloric atresia" OR "JEB-PA" OR "epidermolysis bullosa junctionalis with pyloric atresia" OR "epidermolysis bullosa, junctional, with pyloric stenosis" OR "Epidermolysis bullosa with pyloric atresia"

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

Parent-category trials query:

"junctional epidermolysis bullosa"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 (87313) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T02:22:10.429Z