ORPHA:568062
PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
Also known as: Generalized lymphatic dysplasia of Fotiou · PIEZO1-related LRHF/GLD · PIEZO1-related generalized lymphatic dysplasia with systemic involvement · PIEZO1-related lymphatic-related hydrops fetalis
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
22
37.8th percentile
Trials
0
Interventional, condition-specific
Researchers
173
Distinct authors in sample
Gene link
PIEZO1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and are absent.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0035474
- MONDO:0014797
- OMIM:616843
- UMLS:C4225184
Additional Mondo synonyms (6)
LMPH3 · PIEZO1-related generalised lymphatic dysplasia with systemic involvement · generalised lymphatic dysplasia of Fotiou · generalized lymphatic dysplasia of Fotiou · lymphedema, hereditary, III · lymphedema, hereditary, type III
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — PIEZO1
- LiteraturePresent
22 matched papers (21 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
Yes — we know a specific gene responsible (PIEZO1).
GenCC classification: Definitive.
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?
22
22 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.
22 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).
21 in the last 10 years · high confidence · 37.8th percentile (publications denominator)
Phrase hits: 22 · MeSH hits: 0
Who's working on it?
173
Distinct author names in 22 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.
- 01Mansour S4 papers · 2020
South West Thames Regional Genetics Unit, St. George’s University of London, London, UK.
Papers in Europe PMC - 02Ostergaard P3 papers · 2020
Lymphovascular Research Unit, Cardiovascular and Cell Sciences Institute, St. George’s University of London, London, United Kingdom (UK).
Papers in Europe PMC - 03Gordon K2 papers · 2020
Department of Dermatology, St. George’s University Hospital NHS Foundation Trust, London, UK.
Papers in Europe PMC - 04Jeffery S2 papers · 2020
Lymphovascular Research Unit, Cardiovascular and Cell Sciences Institute, St. George’s University of London, London, United Kingdom (UK).
Papers in Europe PMC - 05Martin-Almedina S2 papers · 2018
Lymphovascular Research Unit, Cardiovascular and Cell Sciences Institute, St. George’s University of London, London, United Kingdom (UK).
Papers in Europe PMC - 06Alitalo K1 paper · 2024
Wihuri Research Institute, Biomedicum Helsinki, Helsinki, Finland.
Papers in Europe PMC - 07Alkan S1 paper · 2023
Center for Human Genetics, Centre Hospitalier Universitaire, 4032 Liège, Belgium.
Papers in Europe PMC - 08
- 09
- 10AlSubhi SA1 paper · 2023
International Blood Group Reference Laboratory, NHS Blood and Transplant, Bristol, United Kingdom.
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).
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.
high 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis" OR "Generalized lymphatic dysplasia of Fotiou" OR "Generalized lymphatic dysplasia of the Fotiou" OR "PIEZO1-related LRHF/GLD" OR "PIEZO1-related generalized lymphatic dysplasia with systemic involvement" OR "PIEZO1-related lymphatic-related hydrops fetalis" OR "LMPH3" OR "PIEZO1-related generalised lymphatic dysplasia with systemic involvement" OR "generalised lymphatic dysplasia of Fotiou" OR "generalised lymphatic dysplasia of the Fotiou" OR "lymphedema, hereditary, III" OR "lymphedema, hereditary, type III"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis" OR "Generalized lymphatic dysplasia of Fotiou" OR "Generalized lymphatic dysplasia of the Fotiou" OR "PIEZO1-related LRHF/GLD" OR "PIEZO1-related generalized lymphatic dysplasia with systemic involvement" OR "PIEZO1-related lymphatic-related hydrops fetalis" OR "LMPH3" OR "PIEZO1-related generalised lymphatic dysplasia with systemic involvement" OR "generalised lymphatic dysplasia of Fotiou" OR "generalised lymphatic dysplasia of the Fotiou" OR "lymphedema, hereditary, III" OR "lymphedema, hereditary, type III" OR "PIEZO1"
Recall-expansion terms: PIEZO1
Study-type breakdown: 0 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 2026-07-27T18:29:35.033Z