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ORPHA:2026

Gingival fibromatosis-hypertrichosis syndrome

low confidenceDisorder

Also known as: CGHT · Congenital generalized hypertrichosis terminalis · Hirsutism-congenital gingival hyperplasia syndrome · Hypertrichosis with or without gingival hyperplasia

Publications

1,293

Trials

0

Interventional, condition-specific

Researchers

459

Distinct authors in sample

Gene link

ABCA5

Limited

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

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 (5)

congenital generalised hypertrichosis terminalis · congenital generalized hypertrichosis terminalis · hirsutism-congenital gingival hyperplasia syndrome · hypertrichosis with or without gingival hyperplasia · hypertrichosis, congenital generalized, with 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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Limited — ABCA5

  2. LiteraturePresent

    1,293 matched papers (766 in last 10 years) Source

  3. Phenotype characterisedPresent

    22 HPO annotations (e.g. Hypertrichosis; Congenital, generalized hypertrichosis; Epicanthus) 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; 10 for broader category hypertrichosis

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 ABCA5.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

22

Associated phenotypes · MONDO:0007610

  • Hypertrichosis
  • Congenital, generalized hypertrichosis
  • Epicanthus
  • Downslanted palpebral fissures
  • Thick nasal alae

Showing 5 of 22 — 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?

1,293

1,293 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,293 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).

766 in the last 10 years · low confidence

Phrase hits: 72 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

459

Distinct author names in 72 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
    Liu Y6 papers · 2025

    The Research Center for Medical Genomics, China Medical University, Shenyang 110001, China.

    Papers in Europe PMC
  2. 02
    Hu JC5 papers · 2014
    Papers in Europe PMC
  3. 03
    Simmer JP5 papers · 2014
    Papers in Europe PMC
  4. 04
    Wang SK4 papers · 2014

    Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, USA.

    Papers in Europe PMC
  5. 05
    Christiano AM3 papers · 2014

    Department of Genetics and Development, Columbia University, New York, New York 10032 Department of Dermatology, Columbia University, New York, New York 10032.

    Papers in Europe PMC
  6. 06
    Davies JA3 papers · 2019

    Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, EH8 9XD, UK.

    Papers in Europe PMC
  7. 07
    Faccenda E3 papers · 2019

    Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, EH8 9XD, UK.

    Papers in Europe PMC
  8. 08
    Hao J3 papers · 2012

    State Key Laboratory of Molecular Oncology, Cancer Institute (Hospital), Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100021, China.

    Papers in Europe PMC
  9. 09
    Irvine AD3 papers · 2012

    Department of Medical Genetics, Belfast City Hospital, Northern Ireland.

    Papers in Europe PMC
  10. 10
    Kelly E3 papers · 2019

    School of Physiology, Pharmacology and Neuroscience, University of Bristol, Bristol, BS8 1TD, UK.

    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). 10 trials are registered for hypertrichosis, 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.

10 interventional trials matched hypertrichosis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: hypertrichosis

10

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.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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).

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 Gingival fibromatosis-hypertrichosis 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.

("Gingival fibromatosis-hypertrichosis syndrome" OR "Congenital generalized hypertrichosis terminalis" OR "Hirsutism-congenital gingival hyperplasia syndrome" OR "Hypertrichosis with or without gingival hyperplasia" OR "congenital generalised hypertrichosis terminalis" OR "hypertrichosis, congenital generalized, with gingival hyperplasia") OR ("ABCA5" OR "ABCA5 syndrome" OR "ABCA5-related")

Run this search on Europe PMC

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

"Gingival fibromatosis-hypertrichosis syndrome" OR "Congenital generalized hypertrichosis terminalis" OR "Hirsutism-congenital gingival hyperplasia syndrome" OR "Hypertrichosis with or without gingival hyperplasia" OR "congenital generalised hypertrichosis terminalis" OR "hypertrichosis, congenital generalized, with gingival hyperplasia"

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

Parent-category trials query:

"hypertrichosis"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CGHT

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 (1293) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T18:47:56.997Z