lymphatic malformation 6
MONDO:0014797Mondo
Findings
No curated finding names lymphatic malformation 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- SplenomegalyHPOHP:0001744
- 11 of 20 reported patients
- CellulitisHPOHP:0100658
- 4 of 10 reported patients
- EpicanthusHPOHP:0000286
- 3 of 10 reported patients
- ChylothoraxHPOHP:0010310
- 2 of 10 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 10 reported patients
- Deep venous thrombosisHPOHP:0002625
- 1 of 10 reported patients
- Intestinal lymphangiectasiaHPOHP:0002593
- 1 of 10 reported patients
- MicrognathiaHPOHP:0000347
- 1 of 10 reported patients
- Pleural effusionHPOHP:0002202
- 1 of 10 reported patients
- Prune bellyHPOHP:0004392
- 1 of 10 reported patients
- Short statureHPOHP:0004322
- 1 of 10 reported patients
- EdemaHPOHP:0000969
Show the remaining 3
- Facial edemaHPOHP:0000282
- LymphedemaHPOHP:0001004
- Webbed neckHPOHP:0000465
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PIEZO1HGNC:28993
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2016
Where it sits
- A kind of
Other names
10 names
Resolves to: lymphatic malformation 6
- Also called
- generalised lymphatic dysplasia of Fotiougeneralized lymphatic dysplasia of FotiouLMPH3lymphedema, hereditary, IIIlymphedema, hereditary, type IIIPIEZO1-related generalised lymphatic dysplasia with systemic involvementPIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalisPIEZO1-related generalized lymphatic dysplasia with systemic involvementPIEZO1-related LRHF/GLDPIEZO1-related lymphatic-related hydrops fetalis