| H00896 | |
| H number | H00896 |
| Name | Lymphangioleiomyomatosis |
| Description | Lymphangioleiomyomatosis (LAM) is a rare lung disease, primarily affecting women. Abnormal proliferation of smooth muscle-like cells (LAM cells) within the lung is responsible for cystic destruction of the lung parenchyma and leads to chronic respiratory failure. Another characteristic feature of the disease is the development of fluid-filled lymphatic cystic structures (lymphangioleiomyomas) in the axial lymphatics and of angiomyolipomas in the kidneys. Its presentation is sporadic or associated with tuberous sclerosis complex, a dominant autosomal neurocutaneous syndrome. Both disorders have their origin in mutations of the tuberous sclerosis genes TSC1 and TSC2, which are involved in the regulation of cell signs critical for energy control and cell nutrition processes. |
| Category | Respiratory system disease |
| Network | - |
| Gene | TSC1 [HSA:7248] [KO:K07206] TSC2 [HSA:7249] [KO:K07207] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Sirolimus [DR:D00753] |
| Comment | - |
| Other DBs | ICD-11: CB07 ICD-10: I89.8 OMIM: 606690 |
| Reference | PMID:21255897 AUTHORS Ansotegui Barrera E, Mancheno Franch N, Vera-Sempere F, Padilla Alarcon J TITLE Lymphangioleiomyomatosis. JOURNAL Arch Bronconeumol 47:85-93 (2011) DOI:10.1016/j.arbres.2010.08.008 PMID:11829138 (TSC1 TSC2) AUTHORS Sato T, Seyama K, Fujii H, Maruyama H, Setoguchi Y, Iwakami S, Fukuchi Y, Hino O TITLE Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. JOURNAL J Hum Genet 47:20-8 (2002) DOI:10.1007/s10038-002-8651-8 |