lung lymphangioleiomyomatosis
Findings
No curated finding names lung lymphangioleiomyomatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course.
Definition from the Mondo Disease Ontology (MONDO:0006277), read 2026-09-29. CC BY 4.0.
Features
36 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.
- Abnormality of the lymphatic systemHPOHP:0100763
- Very frequent (80% to 99% of cases)
- Chest painHPOHP:0100749
- Very frequent (80% to 99% of cases)
- CoughHPOHP:0012735
- Very frequent (80% to 99% of cases)
- DyspneaHPOHP:0002094
- Very frequent (80% to 99% of cases)
- Pulmonary infiltratesHPOHP:0002113
- Very frequent (80% to 99% of cases)
- Restrictive ventilatory defectHPOHP:0002091
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Frequent (30% to 79% of cases)
- Abnormal morphology of female internal genitaliaHPOHP:0000008
- Frequent (30% to 79% of cases)
- AtelectasisHPOHP:0100750
- Frequent (30% to 79% of cases)
- ChylothoraxHPOHP:0010310
- Frequent (30% to 79% of cases)
- EmphysemaHPOHP:0002097
- Frequent (30% to 79% of cases)
- HematuriaHPOHP:0000790
- Frequent (30% to 79% of cases)
Show the remaining 24
- LymphadenopathyHPOHP:0002716
- Frequent (30% to 79% of cases)
- PneumothoraxHPOHP:0002107
- Frequent (30% to 79% of cases)
- Pulmonary lymphangiomyomatosisHPOHP:0012798
- Frequent (30% to 79% of cases)
- Renal angiomyolipomaHPOHP:0006772
- Frequent (30% to 79% of cases)
- Ungual fibromaHPOHP:0100804
- Frequent (30% to 79% of cases)
- Abnormal skin pigmentationHPOHP:0001000
- Occasional (5% to 29% of cases)
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.
- TSC1HGNC:12362
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: lung lymphangioleiomyomatosis
- Also called
- lung lymphangiomyomatosis