Lymphatic malformation: genes and variants
Lymphatic malformation is linked to 1 analyzed protein (PIEZO1). 6 DNA variants are known to cause it; 88 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: lymphatic malformation 6
Genes linked to Lymphatic malformation
PIEZO1: Piezo-type mechanosensitive ion channel component 1
The protein forms a mechanically activated, nonselective cation channel that converts membrane tension into an electrical and calcium signal. It contributes to touch, blood-cell volume control, and lymphatic development, and PIEZO1 variants are associated with dehydrated stomatocytosis and lymphatic malformations.
6 disease-causing and 88 uncertain variants in PIEZO1 are linked to Lymphatic malformation.
Known disease-causing variants in Lymphatic malformation
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PIEZO1 E2496D | 2496 | Cytoplasmic | Disease-causing (★) |
| PIEZO1 K2070Q | 2070 | Transmembrane | Disease-causing (★) |
| PIEZO1 S338C | 338 | Cytoplasmic | Disease-causing (★) |
| PIEZO1 C1064F | 1064 | Extracellular | Disease-causing |
| PIEZO1 D1066G | 1066 | Extracellular | Disease-causing |
| PIEZO1 P2430L | 2430 | Extracellular | Disease-causing |
Same protein, different disease
- Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema is also caused by PIEZO1 variants; they fall mostly in different places as the Lymphatic malformation variants (12 disease-causing).
Diseases related to Lymphatic malformation
- Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, also linked to PIEZO1
- Non-immune hydrops fetalis, also linked to PIEZO1
- Hydrops fetalis, also linked to PIEZO1
Frequently asked questions
Which genes are linked to Lymphatic malformation?
In CATVariant, Lymphatic malformation is linked to 1 analyzed protein: PIEZO1 (Piezo-type mechanosensitive ion channel component 1).
How many genetic variants are linked to Lymphatic malformation?
124 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 88 are of uncertain significance or have conflicting reports.
Which uncertain variants in Lymphatic malformation look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center