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Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 2:18 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 4 | Gastroesophageal reflux, Enlarged spleen (splenomegaly), Ascites |
Lungs and breathing | 1 | Pleural effusion |
Ears | 1 | Hearing loss (hearing impairment) |
Growth and development | 1 | Short stature |
Head and neck | 1 | Facial edema |
Pregnancy and birth | 1 | Nonimmune hydrops fetalis |
Skin | 1 | Lymphedema |
Blood and immune system | 1 | Enlarged spleen (splenomegaly) |
Bones and joints | 1 | Sideways curvature of the spine (scoliosis) |
Brain and nerves | 1 | Global developmental delay |
Hormones | 1 | Hypothyroidism |
Heart and blood vessels | 1 | Atrial septal defect |
PIEZO1 function has not been fully characterized.
Lymphatic malformation 6 is associated with mutations in the PIEZO1 gene on chromosome 16.
Genetic testing for PIEZO1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for lymphatic malformation 6.
4 publications have been identified in PubMed for lymphatic malformation 6. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).
Vargo SG (2026). [PMID: 41185095](https://pubmed.ncbi.nlm.nih.gov/41185095/). *Prenat Diagn*. [Review / Meta-Analysis]
Cheng CW (2025). [PMID: 40628291](https://pubmed.ncbi.nlm.nih.gov/40628291/). *Open Biol*. [Review / Meta-Analysis]
Ketchum EH (2024). [PMID: 38883227](https://pubmed.ncbi.nlm.nih.gov/38883227/). *Clin Case Rep*. [Case Report / Case Series]
Beck MM (2024). [PMID: 40406169](https://pubmed.ncbi.nlm.nih.gov/40406169/). *Matern Fetal Med*. [Case Report / Case Series]