GJC2-related late-onset primary lymphedema
Findings
No curated finding names GJC2-related late-onset primary lymphedema yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.
Definition from the Mondo Disease Ontology (MONDO:0035472), read 2026-09-29. CC BY 4.0.
Features
13 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.
- Abnormal lymphatic vessel morphologyHPOHP:0100766
- Frequent (30% to 79% of cases)
- Ankle swellingHPOHP:0001785
- Frequent (30% to 79% of cases)
- Hypoplasia of lymphatic vesselsHPOHP:0003759
- Frequent (30% to 79% of cases)
- Pedal edemaHPOHP:0010741
- Frequent (30% to 79% of cases)
- Predominantly lower limb lymphedemaHPOHP:0003550
- Frequent (30% to 79% of cases)
- CellulitisHPOHP:0100658
- Occasional (5% to 29% of cases)
- Edema of the dorsum of hands
Show the remaining 1
- PtosisHPOHP:0000508
- Very rare (1% to 4% of cases)
Where it sits
- A kind of