Details of Disease

General Information of Disease (ID: DISR0RNB)

• Disease Name: Lymphangioleiomyomatosis
• Synonyms: lymphangio-myomatosis; LAM; pulmonary lymphangioleiomyomatosis; lung lymphangioleiomyomatosis; lymphangioleiomyomatosis, somatic; lymphangioleiomyomatosis; lymphangiomyomatosis
• Disease Class: CB07: Lymphangioleiomyomatosis
• 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.
• Disease Hierarchy:
  DIS8V0NT: Neoplasm with perivascular epithelioid cell differentiation
  DISR0RNB: Lymphangioleiomyomatosis
• ICD Code:
  ICD-11: ICD-11: CB07
  Expand ICD-11: 'CB07
• Disease Identifiers:
  MONDO ID: MONDO_0011705
  MESH ID: D018192
  UMLS CUI: C0751674
  OMIM ID: 606690
  MedGen ID: 148366
  SNOMED CT ID: 73017001

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Sirolimus	DMGW1ID	Approved	Small molecular drug	[1]

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
LAM-001	DM7JNHU	Phase 1	NA	[2]

This Disease is Treated as An Indication in 1 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
DasKloster 0080-01	DM4GC6T	Investigative	NA	[3]

This Disease is Treated as An Indication in 1 Investigative Agents

Drug Name	Drug ID	Highest Status	Drug Type	REF
Rapamycin	DM8GRJK	Investigative	Small molecular drug	[4]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RPS6KB1	TTG0U4H	moderate	Genetic Variation	[5]
JAG2	TTOJY1B	Strong	Biomarker	[6]
PDGFC	TTOABM9	Strong	Biomarker	[7]
SLC12A3	TTP362L	Strong	Biomarker	[8]
VEGFD	TTOM5H4	Strong	Biomarker	[9]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
A1BG	OTFVUGNQ	Strong	Genetic Variation	[10]
GGPS1	OTVEHG28	Strong	Biomarker	[11]
HES1	OT8P19W2	Strong	Biomarker	[6]
PLAAT3	OTVXXJ5K	Strong	Biomarker	[12]
SFTPA2	OT6SFOMU	Strong	Altered Expression	[13]
SRF	OTW18FQN	Strong	Biomarker	[14]
TESC	OTI8C76M	Strong	Biomarker	[8]
TSC2	OT47LWI9	Strong	Autosomal dominant	[15]
TSC1	OTFF4YZ7	Definitive	Autosomal dominant	[16]

References

• [1] FDA Approved Drug Products from FDA Official Website. 2019. Application Number: (ANDA) 201578.
• [2] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [3] The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
• [4] Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
• [5] LAM cells biology and lymphangioleiomyomatosis.Folia Histochem Cytobiol. 2013;51(1):1-10. doi: 10.5603/FHC.2013.001.
• [6] Mammalian target of rapamycin regulates murine and human cell differentiation through STAT3/p63/Jagged/Notch cascade. J Clin Invest. 2010 Jan;120(1):103-14. doi: 10.1172/JCI37964. Epub 2009 Dec 28.
• [7] Analysis of the oestrogen response in an angiomyolipoma derived xenograft model.Endocr Relat Cancer. 2009 Mar;16(1):59-72. doi: 10.1677/ERC-08-0123. Epub 2008 Nov 6.
• [8] Serum endostatin levels are associated with diffusion capacity and with tuberous sclerosis- associated lymphangioleiomyomatosis.Orphanet J Rare Dis. 2019 Mar 29;14(1):72. doi: 10.1186/s13023-019-1050-4.
• [9] Serum vascular endothelial growth factor-D as a diagnostic and therapeutic biomarker for lymphangioleiomyomatosis.PLoS One. 2019 Feb 28;14(2):e0212776. doi: 10.1371/journal.pone.0212776. eCollection 2019.
• [10] Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry.Front Neurol. 2019 Oct 25;10:1144. doi: 10.3389/fneur.2019.01144. eCollection 2019.
• [11] Evidence for a role of geranylgeranylation in renal angiomyolipoma and renal epithelioid angiomyolipoma.Oncol Lett. 2019 Feb;17(2):1523-1530. doi: 10.3892/ol.2018.9808. Epub 2018 Dec 7.
• [12] Rapamycin-insensitive up-regulation of adipocyte phospholipase A2 in tuberous sclerosis and lymphangioleiomyomatosis.PLoS One. 2014 Oct 27;9(10):e104809. doi: 10.1371/journal.pone.0104809. eCollection 2014.
• [13] Clinical Course of Histologically Proven Multifocal Micronodular Pneumocyte Hyperplasia in Tuberous Sclerosis Complex: A Case Series and Comparison with Lymphangiomyomatosis.Respiration. 2018;95(5):310-316. doi: 10.1159/000486101. Epub 2018 Jan 24.
• [14] Imbalanced plasminogen system in lymphangioleiomyomatosis: potential role of serum response factor.Am J Respir Cell Mol Biol. 2005 Jan;32(1):28-34. doi: 10.1165/rcmb.2004-0289OC. Epub 2004 Oct 28.
• [15] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [16] Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. Proc Natl Acad Sci U S A. 2000 May 23;97(11):6085-90. doi: 10.1073/pnas.97.11.6085.