CELSR1-related late-onset primary lymphedema
MONDO:0035499Mondo
Findings
No curated finding names CELSR1-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 unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.
Definition from the Mondo Disease Ontology (MONDO:0035499), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of