ORPHA:158684
Epidermolysis bullosa simplex with pyloric atresia
Also known as: EBS with pyloric atresia · EBS-PA
Publications
68
48.5th percentile
Trials
0
Interventional, condition-specific
Researchers
407
Distinct authors in sample
Gene link
PLEC
Strong
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012807
- MeSH:C567408
- OMIM:612138
- UMLS:C2677349
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — PLEC
- LiteraturePresent
68 matched papers (38 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 17 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)
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?
68
68 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.
68 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).
38 in the last 10 years · high confidence · 48.5th percentile (publications denominator)
Phrase hits: 68 · MeSH hits: 0
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.
- 01Wiche 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 - 02Winter 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 - 03Walko G7 papers · 2021
Max F. Perutz Laboratories, Department of Biochemistry and Cell Biology, University of Vienna, Vienna, Austria.
Papers in Europe PMC - 04Nakamura H6 papers · 2011
Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15, West 7, Sapporo 060-8638, Japan.
Papers in Europe PMC - 05Castañón MJ5 papers · 2021
Max F. Perutz Laboratories, Department of Biochemistry and Cell Biology, University of Vienna, 1030, Vienna, Austria.
Papers in Europe PMC - 06Fischer 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 - 07Meneguzzi 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 - 08Shimizu H4 papers · 2011Papers in Europe PMC
- 09Goldmann 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 - 10McMillan JR3 papers · 2011Papers 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 17 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
17 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
17
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
- NCT07027345·RECRUITING·A Phase II, Placebo Controlled, Clinical Trial of Topical TolaSure Targeting Aggregated Mutant Keratin in Epidermolysis Bullosa Simplex
Conditions: Epidermolysis Bullosa Simplex·Matched via name phrase
- NCT06509984·RECRUITING·A 20-Week Study Assessing the Efficacy of Apremilast in Patients with EB Simplex Generalized
Conditions: Epidermolysis Bullosa Simplex · Genodermatosis·Matched via name phrase
- NCT06136403·RECRUITING·A 44-week Monocentric Open Study Assessing the Efficacy and Safety of Deucravacitinib in Adults With Inflammatory Genodermatoses
Conditions: Epidermolysis Bullosa Simplex · Ichthyosis · Genodermatosis · Inflammatory Congenital Ichthyoses·Matched via name phrase
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT01403402·RECRUITING·Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Conditions: Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)·Matched via recall expansion
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 2026-07-26This 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"
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" OR "PLEC"
Recall-expansion terms: PLEC
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"epidermolysis bullosa simplex"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, 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 2026-07-27T08:07:22.670Z