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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease tuberous sclerosis
Comorbidity C0024115|lung disease
Sentences 3
PubMedID- 25537563 Severity and outcome of cystic lung disease in women with tuberous sclerosis complex.
PubMedID- 26432869 Pulmonary iymphangioleiomyomatosis (lam), a rare progressive lung disease associated with mutations of the tuberous sclerosis complex (tsc2) tumor suppressor gene, manifests by neoplastic growth of lam cells, induction of cystic lung destruction and respiratory failure.
PubMedID- 23001803 Lymphangioleiomyomatosis (lam) is a slowly progressive lung disease that is associated with mutations in tuberous sclerosis complex genes, infiltration of the pulmonary parenchyma and lymphatics with neoplastic smooth muscle cells, extensive tissue remodeling and architectural distortion of the lung, and tumors of the chest and abdomen, including lymphangiomyomas and angiomyolipomas.

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