RARE DISEASERESEARCH ATLAS

ORPHA:2024

Hereditary gingival fibromatosis

high confidenceDisorder

Also known as: Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia · Hereditary gingival hyperplasia

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

Publications

384

75.7th percentile

Trials

1

Interventional, condition-specific

Researchers

939

Distinct authors in sample

Gene link

DUSP8, ZNF862

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

gingival fibromatosis (HGF) is a rare benign, slowly , non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with inheritance, or as part of a syndrome.

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 (4)

autosomal dominant gingival fibromatosis · autosomal dominant gingival hyperplasia · hereditary gingival fibromatosis · hereditary gingival hyperplasia

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Limited — DUSP8, ZNF862

  2. LiteraturePresent

    384 matched papers (167 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 trialPresent

    1 matched on ClinicalTrials.gov

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?

Possibly — only limited evidence so far for DUSP8, ZNF862.

GenCC classification: Limited.

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?

384

384 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.

384 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).

167 in the last 10 years · high confidence · 75.7th percentile (publications denominator)

Phrase hits: 384 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

939

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Chen D11 papers · 2026

    ZoBio BV, J.H. Oortweg 19, Leiden 2333 CH, Netherlands.

    Papers in Europe PMC
  2. 02
    Gawron K7 papers · 2021

    Microbiology Department, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Cracow, Poland. katarzyna.gawron@uj.edu.pl.

    Papers in Europe PMC
  3. 03
    Chomyszyn-Gajewska M6 papers · 2019

    b Department of Periodontology and Oral Medicine, Medical College , Jagiellonian University , Krakow , Poland.

    Papers in Europe PMC
  4. 04
    Coletta RD6 papers · 2025

    Department of Oral Diagnosis, University of Campinas Dental School, Piracicaba, São Paulo, Brazil. coletta@fop.unicamp.br

    Papers in Europe PMC
  5. 05
    Łazarz-Bartyzel K6 papers · 2021

    b Department of Periodontology and Oral Medicine, Medical College , Jagiellonian University , Krakow , Poland.

    Papers in Europe PMC
  6. 06
    Martelli-Júnior H6 papers · 2025

    Health Science Programme, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.

    Papers in Europe PMC
  7. 07
    Potempa J6 papers · 2019

    a Department of Microbiology, Faculty of Biochemistry, Biophysics and Biotechnology , Jagiellonian University , Krakow , Poland.

    Papers in Europe PMC
  8. 08
    Bian Z5 papers · 2026

    1 The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) and Key Laboratory of Oral Biomedicine Ministry of Education, School and Hospital of Stomatology, Wuhan University, Wuhan, Hubei, China.

    Papers in Europe PMC
  9. 09
    Plakwicz P5 papers · 2021

    c Department of Periodontology , Medical University of Warsaw , Warsaw , Poland.

    Papers in Europe PMC
  10. 10
    Liu Y4 papers · 2025

    State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, Department of Periodontology, West China Hospital of Stomatology, Sichuan University, No.14, Section 3, Renmin South Road, Chengdu, 610041, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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.

"Hereditary gingival fibromatosis" OR "Autosomal dominant gingival fibromatosis" OR "Autosomal dominant gingival hyperplasia" OR "Hereditary gingival hyperplasia"

Run this search on Europe PMC

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

"Hereditary gingival fibromatosis" OR "Autosomal dominant gingival fibromatosis" OR "Autosomal dominant gingival hyperplasia" OR "Hereditary gingival hyperplasia" OR "DUSP8" OR "ZNF862"

Recall-expansion terms: DUSP8, ZNF862

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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 2026-07-26T18:47:20.536Z