ORPHA:412181
Epidermolysis bullosa simplex due to BP230 deficiency
Also known as: DST-related epidermolysis bullosa simplex · EBS due to BP230 deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1
7th percentile
Trials
0
Interventional, condition-specific
Researchers
13
Distinct authors in sample
Gene link
DST
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014180
- OMIM:615425
- UMLS:C3809470
Additional Mondo synonyms (5)
EBS-AR BP230 · epidermolysis bullosa simplex 3, localised or generalised intermediate, with bp230 deficiency · epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency · epidermolysis bullosa simplex due to BP230 deficiency · epidermolysis bullosa simplex, autosomal recessive type 2
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 — DST
- LiteraturePresent
1 matched papers (1 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 (DST).
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?
1
1 paper have ever been indexed 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.
1 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).
1 in the last 10 years · high confidence · 7th percentile (publications denominator)
Phrase hits: 1 · MeSH hits: 0
Who's working on it?
13
Distinct author names in 1 sampled paper — 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.
- 01Abel G1 paper · 2023
Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
Papers in Europe PMC - 02Basel-Salmon L1 paper · 2023
The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.
Papers in Europe PMC - 03Batzir NA1 paper · 2023
Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
Papers in Europe PMC - 04Bazak L1 paper · 2023
The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.
Papers in Europe PMC - 05Brabbing-Goldstein D1 paper · 2023
The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.
Papers in Europe PMC - 06Farage-Barhom S1 paper · 2023
The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.
Papers in Europe PMC - 07Fellner A1 paper · 2023
The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.
Papers in Europe PMC - 08Levy M1 paper · 2023
The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.
Papers in Europe PMC - 09Lidzbarsky GA1 paper · 2023
The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.
Papers in Europe PMC - 10Lifshitc-Kalis M1 paper · 2023
The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.
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). 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
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 due to BP230 deficiency" OR "DST-related epidermolysis bullosa simplex" OR "EBS due to BP230 deficiency" OR "EBS-AR BP230" OR "epidermolysis bullosa simplex 3, localised or generalised intermediate, with bp230 deficiency" OR "epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency" OR "epidermolysis bullosa simplex, autosomal recessive type 2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Epidermolysis bullosa simplex due to BP230 deficiency" OR "DST-related epidermolysis bullosa simplex" OR "EBS due to BP230 deficiency" OR "EBS-AR BP230" OR "epidermolysis bullosa simplex 3, localised or generalised intermediate, with bp230 deficiency" OR "epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency" OR "epidermolysis bullosa simplex, autosomal recessive type 2" OR "DST"
Recall-expansion terms: DST
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, recall-expansion; 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
Ingested 2026-07-27T15:44:50.349Z