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ORPHA:79403

Junctional epidermolysis bullosa with pyloric atresia

high confidenceDisorder

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

Publications

170

61.5th percentile

Trials

1

Interventional, condition-specific

Researchers

910

Distinct authors in sample

Gene link

ITGA6, ITGB4

Definitive

Readiness

3/6

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ITGA6, ITGB4

  2. LiteraturePresent

    170 matched papers (75 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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)

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?

170

170 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.

170 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).

75 in the last 10 years · high confidence · 61.5th percentile (publications denominator)

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?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  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?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 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 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

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

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 2026-07-26

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"

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" OR "ITGA6" OR "ITGB4"

Recall-expansion terms: ITGA6, ITGB4

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 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, recall-expansion; with hits: phrase, mesh, recall-expansion

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

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