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ORPHA:158684

Epidermolysis bullosa simplex with pyloric atresia

low confidenceDisorder

Also known as: EBS with pyloric atresia · EBS-PA

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

3,032

Trials

0

Interventional, condition-specific

Researchers

407

Distinct authors in sample

Gene link

PLEC

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail . Additional extracutaneous findings include , anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications.

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)

epidermolysis bullosa simplex 5C, with pyloric atresia · epidermolysis bullosa simplex 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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — PLEC

  2. LiteraturePresent

    3,032 matched papers (2,172 in last 10 years) Source

  3. Phenotype characterisedPresent

    41 HPO annotations (e.g. Ureterocele; Renal duplication; Muscular dystrophy) 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 trialPartial

    None under the specific name; 18 for broader category epidermolysis bullosa simplex

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 (PLEC).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

41

Associated phenotypes · MONDO:0012807

  • Ureterocele
  • Renal duplication
  • Muscular dystrophy
  • Scarring alopecia of scalp
  • Aplasia cutis congenita of scalp

Showing 5 of 41 — 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?

3,032

3,032 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.

3,032 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).

2,172 in the last 10 years · low confidence

Phrase hits: 68 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

407

Distinct author names in 68 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
    Wiche G13 papers · 2023

    Department of Biochemistry and Cell Biology, Max F. Perutz Laboratories, University of Vienna, Vienna, Austria. Department of Physics, Center for Medical Physics and Technology, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany. Institute of Neuropathology, University Hospital Erlangen, Erlangen, Germany.

    Papers in Europe PMC
  2. 02
    Winter L8 papers · 2023

    Department of Biochemistry and Cell Biology, Max F. Perutz Laboratories, University of Vienna, Vienna, Austria. Department of Physics, Center for Medical Physics and Technology, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany. Institute of Neuropathology, University Hospital Erlangen, Erlangen, Germany.

    Papers in Europe PMC
  3. 03
    Walko G7 papers · 2021

    Max F. Perutz Laboratories, Department of Biochemistry and Cell Biology, University of Vienna, Vienna, Austria.

    Papers in Europe PMC
  4. 04
    Nakamura H6 papers · 2011

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

    Papers in Europe PMC
  5. 05
    Castañón MJ5 papers · 2021

    Max F. Perutz Laboratories, Department of Biochemistry and Cell Biology, University of Vienna, 1030, Vienna, Austria.

    Papers in Europe PMC
  6. 06
    Fischer I5 papers · 2023

    Department of Biochemistry and Cell Biology, Max F. Perutz Laboratories, University of Vienna, Vienna, Austria. Department of Physics, Center for Medical Physics and Technology, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany. Institute of Neuropathology, University Hospital Erlangen, Erlangen, Germany.

    Papers in Europe PMC
  7. 07
    Meneguzzi G4 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
  8. 08
    Shimizu H4 papers · 2011
    Papers in Europe PMC
  9. 09
    Goldmann WH3 papers · 2023

    Department of Biochemistry and Cell Biology, Max F. Perutz Laboratories, University of Vienna, Vienna, Austria. Department of Physics, Center for Medical Physics and Technology, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany. Institute of Neuropathology, University Hospital Erlangen, Erlangen, Germany.

    Papers in Europe PMC
  10. 10
    McMillan JR3 papers · 2011
    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). 18 trials are registered for epidermolysis bullosa simplex, 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.

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

Broader category: epidermolysis bullosa simplex

18

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 Epidermolysis bullosa simplex 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.

("Epidermolysis bullosa simplex with pyloric atresia" OR "EBS with pyloric atresia" OR "EBS-PA" OR "epidermolysis bullosa simplex 5C, with pyloric atresia") OR (MESH:"Epidermolysis Bullosa Simplex With Pyloric Atresia") OR ("PLEC" OR "PLEC syndrome" OR "PLEC-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Epidermolysis Bullosa Simplex With Pyloric Atresia

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

"Epidermolysis bullosa simplex with pyloric atresia" OR "EBS with pyloric atresia" OR "EBS-PA" OR "epidermolysis bullosa simplex 5C, with pyloric atresia"

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

Parent-category trials query:

"epidermolysis bullosa simplex"

Query health: suspect — strategies attempted: phrase, mesh; 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 (3032) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T08:07:22.670Z