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ORPHA:2325

Epidermolysis bullosa simplex with anodontia/hypodontia

high confidenceDisorder

Also known as: EBS with anodontia/hypodontia · Kallin syndrome

Publications

4

7th percentile

Trials

0

Interventional, condition-specific

Researchers

18

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare epidermolysis bullosa simplex characterized by the association of the typical trauma-induced blisters with additional features including hearing impairment, alopecia, hypo- or anodontia, and nail . Occurrence of vitiliginous skin areas unrelated to the sites of the blisters has also been described.

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 (1)

Gamborg-Nielsen syndrome

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.”

2/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    4 matched papers (1 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 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

4

4 papers 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.

4 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: 4 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

18

Distinct author names in 4 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
    Abdel Hay RM1 paper · 2015
    Papers in Europe PMC
  2. 02
    Abou Chedid JC1 paper · 2019

    Department of Pediatric Dentistry, Faculty of Dental Medicine, Saint-Joseph University, Beirut, Lebanon.

    Papers in Europe PMC
  3. 03
    Biraggari SK1 paper · 2015

    G Pulla Reddy Dental College & Hospital, India.

    Papers in Europe PMC
  4. 04
    Bugude SS1 paper · 2015

    G Pulla Reddy Dental College & Hospital, India.

    Papers in Europe PMC
  5. 05
    El Darouti MA1 paper · 2015

    Department of Dermatology, Faculty of Medicine, Cairo University, Cairo, Egypt.

    Papers in Europe PMC
  6. 06
    El Hawary MS1 paper · 2015
    Papers in Europe PMC
  7. 07
    El-Outa A1 paper · 2019

    Private Practice of Oral Medicine and Restorative Dentistry, Beirut, Lebanon.

    Papers in Europe PMC
  8. 08
    Gedde-Dahl T Jr1 paper · 1996
    Papers in Europe PMC
  9. 09
    Hakeem MA1 paper · 2015

    G Pulla Reddy Dental College & Hospital, India.

    Papers in Europe PMC
  10. 10
    Lyngstadaas SP1 paper · 1996

    Laboratory for Molecular Biology, Department of Oral Pathology, Faculty of Dentistry, University of Oslo, Norway.

    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

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.

"Epidermolysis bullosa simplex with anodontia/hypodontia" OR "EBS with anodontia/hypodontia" OR "Kallin syndrome" OR "Gamborg-Nielsen syndrome"

Run this search on Europe PMC

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

"Epidermolysis bullosa simplex with anodontia/hypodontia" OR "EBS with anodontia/hypodontia" OR "Kallin syndrome" OR "Gamborg-Nielsen syndrome"

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: ok — strategies attempted: phrase; 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 2026-07-26T19:51:55.517Z