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ORPHA:75392

Periodontal Ehlers-Danlos syndrome

low confidenceDisorder

Also known as: EDS VIII · Ehlers-Danlos syndrome type 8 · Ehlers-Danlos syndrome, periodontitis type · Periodontal EDS · pEDS

Publications

13,481

Trials

0

Interventional, condition-specific

Researchers

1,105

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare type of Ehlers-Danlos syndrome characterized by childhood or adolescence onset of severe, intractable periodontitis, lack of attached gingiva, and presence of pretibial plaques. Additional manifestations are easy bruising, hypermobility mainly of the distal joints, skin hyperextensibility and fragility, abnormal scarring, recurrent infections, hernias, marfanoid facial features, acrogeria, and prominent vasculature.

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.

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    13,481 matched papers (10,010 in last 10 years) Source

  3. Phenotype characterisedPresent

    61 HPO annotations (e.g. Joint hypermobility; Periodontitis; Hypermelanotic macule) 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; 44 for broader category Ehlers-Danlos syndrome

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)

61

Associated phenotypes · MONDO:0007527

  • Joint hypermobility
  • Periodontitis
  • Hypermelanotic macule
  • Atrophic scars
  • Short stature

Showing 5 of 61 — 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?

13,481

13,481 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

13,481 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).

10,010 in the last 10 years · low confidence

Phrase hits: 13,480 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

1,105

Distinct author names in 200 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
    Kapferer-Seebacher I7 papers · 2023

    University Hospital for Dental Prosthetics and Restorative Dentistry, Department of Dental and Oral Medicine and Cranio-Maxillofacial and Oral Surgery, Medical University of Innsbruck, Innsbruck, Austria.

    Papers in Europe PMC
  2. 02
    Zschocke J7 papers · 2023

    Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

    Papers in Europe PMC
  3. 03
    Levinson CA4 papers · 2026

    Department of Psychological and Brain Sciences, University of Louisville, United States; Department of Pediatrics - Division of Child and Adolescent Psychiatry, University of Louisville, United States.

    Papers in Europe PMC
  4. 04
    Mehler PS4 papers · 2026

    Eating Recovery Center and Pathlight Mood & Anxiety Center, Denver, CO, USA; ACUTE Center for Eating Disorders at Denver Health, Denver, CO, USA; University of Colorado School of Medicine, Aurora, CO, USA. Electronic address: phil.mehler@ercpathlight.com.

    Papers in Europe PMC
  5. 05
    Blalock DV3 papers · 2026

    Center of Innovation to Accelerate Discovery and Practice Transformation, Durham Veterans Affairs Medical Center, Durham, NC, USA.

    Papers in Europe PMC
  6. 06
    Duffy A3 papers · 2026

    Eating Recovery Center and Pathlight Mood & Anxiety Center, Denver, CO, USA. Electronic address: alan.duffy@ercpathlight.com.

    Papers in Europe PMC
  7. 07
    Guillaume S3 papers · 2026

    Department of Emergency Psychiatry and Acute Care, CHU Montpellier, Montpellier, France.

    Papers in Europe PMC
  8. 08
    Lepperdinger U3 papers · 2023

    University Hospital for Dental Prosthetics and Restorative Dentistry, Department of Dental and Oral Medicine and Cranio-Maxillofacial and Oral Surgery, Medical University of Innsbruck, Innsbruck, Austria.

    Papers in Europe PMC
  9. 09
    Li X3 papers · 2026

    NHC Key Laboratory of Mental Health (Peking University), Peking University Sixth Hospital, Peking University Institute of Mental Health, National Clinical Research Center for Mental Disorders (Peking University Sixth Hospital), 51 Huayuanbei Road, Haidian District, Beijing, 100191, People's Republic of China. lixueni@bjmu.edu.cn.

    Papers in Europe PMC
  10. 10
    Nilius M3 papers · 2022

    Niliusklinik Dortmund Germany.

    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). 44 trials are registered for Ehlers-Danlos syndrome, 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.

44 interventional trials matched Ehlers-Danlos syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: Ehlers-Danlos syndrome

44

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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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).

Uncertain / not reviewed (5)

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 Periodontal Ehlers-Danlos syndrome — 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.

"Periodontal Ehlers-Danlos syndrome" OR "EDS VIII" OR "Ehlers-Danlos syndrome type 8" OR "Ehlers-Danlos syndrome, periodontitis type" OR "Periodontal EDS"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Ehlers-Danlos Syndrome, Type VIII

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

"Periodontal Ehlers-Danlos syndrome" OR "EDS VIII" OR "Ehlers-Danlos syndrome type 8" OR "Ehlers-Danlos syndrome, periodontitis type" OR "Periodontal EDS" OR "Ehlers-Danlos Syndrome, Type VIII"

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

Parent-category trials query:

"Ehlers-Danlos syndrome"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: pEDS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (13481) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T01:49:18.715Z