ORPHA:79486
Cystic hygroma
Publications
3,190
Trials
2
Interventional, condition-specific
Researchers
1,101
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
3,190 matched papers (1,371 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 trialPresent
2 matched on ClinicalTrials.gov (1 recruiting in sample)
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)
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?
3,190
3,190 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=5449) is 41.
3,190 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).
1,371 in the last 10 years · low confidence
Phrase hits: 3,190 · MeSH hits: 0
Who's working on it?
1,101
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.
- 01Li DZ6 papers · 2026
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Papers in Europe PMC - 02
- 03Zhen L6 papers · 2025
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Papers in Europe PMC - 04Zhang L5 papers · 2026
Department of Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, 510623, Guangzhou, China.
Papers in Europe PMC - 05Zhang Y5 papers · 2026
Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics & National Health Commission Key Laboratory of Birth Defects Prevention, Medical Genetics Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.
Papers in Europe PMC - 06Chen CP4 papers · 2025
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Papers in Europe PMC - 07Guadagnolo D4 papers · 2025
Department of Experimental Medicine, Sapienza University of Rome, 00185 Rome, Italy.
Papers in Europe PMC - 08Li D4 papers · 2025
Prenatal Diagnosis Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Papers in Europe PMC - 09Li J4 papers · 2026
Maternal and Child Medical Center of Anhui Medical University, Hefei, China.
Papers in Europe PMC - 10Li R4 papers · 2025
Prenatal Diagnosis Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
low confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT05983159·RECRUITING·A Trial of Targeted Therapies for Patients With Slow-Flow or Fast-Flow Vascular Malformations
Conditions: Slow-Flow Vascular Malformation · Fast-Flow Vascular Malformation · Vascular Malformations · Venous Malformation·Matched via name phrase
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.
"Cystic hygroma"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cystic hygroma"
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: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; 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
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-27T02:29:26.320Z