lymphatic malformation 4
MONDO:0014393Mondo
Findings
No curated finding names lymphatic malformation 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.
Definition from the Mondo Disease Ontology (MONDO:0014393), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
6 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.
- HyperkeratosisHPOHP:0000962
- 1 of 1 reported patient
- LymphedemaHPOHP:0001004
- 7 of 7 reported patients
- Pedal edemaHPOHP:0010741
- 4 of 7 reported patients
- Prominent superficial veinsHPOHP:0001015
- 4 of 7 reported patients
- Hydrocele testisHPOHP:0000034
- 1 of 3 reported patients
- CellulitisHPOHP:0100658
- 1 of 7 reported patients
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.
- VEGFCHGNC:12682
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: lymphatic malformation 4
- Also called
- hereditary lymphedema caused by mutation in VEGFClymphedema, hereditary, 1Dlymphedema, hereditary, type 1DVEGFC hereditary lymphedema