lymphangioleiomyomatosis
Findings
No curated finding names lymphangioleiomyomatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites.
Definition from the Mondo Disease Ontology (MONDO:0011705), read 2026-09-29. CC BY 4.0.
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.
- TSC2HGNC:12363
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
Where it sits
- Narrower terms (1)
Other names
2 names
Resolves to: lymphangioleiomyomatosis
- Also called
- lymphangioleiomyomatosis, somaticlymphangiomyomatosis