ORPHA:664438
Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
Also known as: Liang-Wang syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Is anyone studying this?
30
30 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=183) is 38.
30 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
30 in the last 10 years · high confidence · 45.4th percentile (publications denominator)
Is a treatment being tested?
0
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).
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (KCNMA1).
GenCC classification: Strong.
Who's working on it?
212
Distinct author names in 30 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.
- 01Gaunt TR2 papers · 2025
MRC Integrative Epidemiology Unit, Bristol Medical School, University of Bristol, Oakfield House, Bristol BS8 2BN, United Kingdom
Papers in Europe PMC - 02Gribkoff VK2 papers · 2023
Department of Internal Medicine, Section on Endocrinology, Yale University School of Medicine, New Haven, CT, USA. valentin.gribkoff@yale.edu.
Papers in Europe PMC - 03Lee J2 papers · 2022
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine, Incheon, South Korea.
Papers in Europe PMC - 04Leyden GM2 papers · 2025
MRC Integrative Epidemiology Unit, Bristol Medical School, University of Bristol, Oakfield House, Bristol BS8 2BN, United Kingdom
Papers in Europe PMC - 05Liang L2 papers · 2025
Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, P. R. China.
Papers in Europe PMC - 06Richardson TG2 papers · 2025
MRC Integrative Epidemiology Unit, Bristol Medical School, University of Bristol, Oakfield House, Bristol BS8 2BN, United Kingdom
Papers in Europe PMC - 07Shakkottai VG2 papers · 2023
Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States.
Papers in Europe PMC - 08Sobczyk MK2 papers · 2025
MRC Integrative Epidemiology Unit, Bristol Medical School, University of Bristol, Oakfield House, Bristol BS8 2BN, United Kingdom
Papers in Europe PMC - 09Wang QK2 papers · 2025
Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, P. R. China.
Papers in Europe PMC - 10Adel Y1 paper · 2021
Translational Hearing Research, Tübingen Hearing Research Center, Department of Otolaryngology, Head and Neck Surgery, University of Tübingen, 72076, Tübingen, Germany.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
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 below but are not added to the query string.
"Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome" OR "Liang-Wang syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome" OR "Liang-Wang syndrome" OR "KCNMA1"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:618729 UMLS:C5231479
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