ORPHA:2026
Gingival fibromatosis-hypertrichosis syndrome
Also known as: CGHT · Congenital generalized hypertrichosis terminalis · Hirsutism-congenital gingival hyperplasia syndrome · Hypertrichosis with or without gingival hyperplasia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
72
45.7th percentile
Trials
0
Interventional, condition-specific
Researchers
459
Distinct authors in sample
Gene link
ABCA5
Limited
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007610
- MeSH:C565016
- OMIM:135400
- UMLS:C1851120
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Limited — ABCA5
- LiteraturePresent
72 matched papers (33 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; 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)
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?
72
72 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.
72 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).
33 in the last 10 years · medium confidence · 45.7th percentile (publications denominator)
Phrase hits: 72 · MeSH hits: 0
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.
- 01Liu Y6 papers · 2025
The Research Center for Medical Genomics, China Medical University, Shenyang 110001, China.
Papers in Europe PMC - 02Hu JC5 papers · 2014Papers in Europe PMC
- 03Simmer JP5 papers · 2014Papers in Europe PMC
- 04Wang SK4 papers · 2014
Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, USA.
Papers in Europe PMC - 05Christiano 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 - 06Davies JA3 papers · 2019
Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, EH8 9XD, UK.
Papers in Europe PMC - 07Faccenda E3 papers · 2019
Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, EH8 9XD, UK.
Papers in Europe PMC - 08Hao 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 - 09Irvine AD3 papers · 2012
Department of Medical Genetics, Belfast City Hospital, Northern Ireland.
Papers in Europe PMC - 10Kelly 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 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.
medium 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.
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.
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.
"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"
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" OR "ABCA5"
Recall-expansion terms: ABCA5
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hypertrichosis"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-26T18:47:56.997Z