lymphatic malformation 3
MONDO:0013278Mondo
Findings
No curated finding names lymphatic malformation 3 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 GJC2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013278), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Infantile onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
3 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.
- CellulitisHPOHP:0100658
- LymphedemaHPOHP:0001004
- Recurrent skin infectionsHPOHP:0001581
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.
- GJC2HGNC:17494
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
4 names
Resolves to: lymphatic malformation 3
- Also called
- GJC2 hereditary lymphedemahereditary lymphedema caused by mutation in GJC2lymphedema, hereditary, 1Clymphedema, hereditary, type 1C