KEGG   DISEASE: LymphangioleiomyomatosisHelp
Entry
H00896                      Disease                                

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
Cancer; Cardiovascular disease; Immune system disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Vascular diseases
   H00896  Lymphangioleiomyomatosis
Human diseases in ICD-11 classification [BR:br08403]
 12 Diseases of the respiratory system
  Respiratory diseases principally affecting the lung interstitium
   CB07  Lymphangioleiomyomatosis
    H00896  Lymphangioleiomyomatosis
BRITE hierarchy
Pathway
hsa04115  p53 signaling pathway
hsa04150  mTOR signaling pathway
hsa04910  Insulin signaling pathway
Gene
TSC1 [HSA:7248] [KO:K07206]
TSC2 [HSA:7249] [KO:K07207]
Drug
Sirolimus [DR:D00753]
Other DBs
ICD-11: CB07
ICD-10: I89.8
OMIM: 606690
Reference
  Authors
Taveira-Dasilva AM, Rabel A, Gochuico BR, Avila NA, Moss J
  Title
Prevalence of uterine leiomyomas in lymphangioleiomyomatosis.
  Journal
Fertil Steril 96:711-714.e1 (2011)
DOI:10.1016/j.fertnstert.2011.06.038
Reference
PMID:21760507 (description, gene, drug)
  Authors
Taille C, Borie R, Crestani B
  Title
Current management of lymphangioleiomyomatosis.
  Journal
Curr Opin Pulm Med 17:374-8 (2011)
DOI:10.1097/MCP.0b013e328349ac8c
Reference
  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
LinkDB All DBs

» Japanese version

DBGET integrated database retrieval system