Details of Disease

General Information of Disease (ID: DISR6GKZ)

• Disease Name: Tuberous sclerosis 2
• Synonyms: TSC2 Angiomyolipomas, renal, modifier of; TSC2; tuberous sclerosis, type 2; tuberous sclerosis 2; tuberous sclerosis-2; tuberous sclerosis type 2
• Definition: Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).
• Disease Hierarchy:
  DISEMUGZ: Tuberous sclerosis
  DISR6GKZ: Tuberous sclerosis 2
• Disease Identifiers:
  MONDO ID: MONDO_0013199
  MESH ID: C566021
  UMLS CUI: C1860707
  OMIM ID: 613254
  MedGen ID: 348170

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NTHL1	OTPQXPT1	Limited	Altered Expression	[1]
PKD1	OT5ALRZ5	Limited	Biomarker	[2]
RAP1GAP	OTC31ONQ	Limited	Genetic Variation	[3]
RHEB	OTFLTSEC	Limited	Posttranslational Modification	[4]
RNASE3	OTVE2XD1	Limited	Biomarker	[5]
TSC1	OTFF4YZ7	Strong	Genetic Variation	[6]
TSC2	OT47LWI9	Definitive	Autosomal dominant	[7]

References

• [1] Suppression of tumor suppressor Tsc2 and DNA repair glycosylase Nth1 during spontaneous liver tumorigenesis in Long-Evans Cinnamon rats.Mol Cell Biochem. 2010 May;338(1-2):233-9. doi: 10.1007/s11010-009-0357-1. Epub 2009 Dec 24.
• [2] Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated.BMC Med Genet. 2015 Jun 17;16:39. doi: 10.1186/s12881-015-0185-y.
• [3] Identification of tuberous sclerosis 2 messenger RNA splice variants that are conserved and differentially expressed in rat and human tissues.Cell Growth Differ. 1995 Sep;6(9):1185-91.
• [4] TSC2/Rheb signaling mediates ERK-dependent regulation of mTORC1 activity in C2C12 myoblasts.FEBS Open Bio. 2017 Jan 30;7(3):424-433. doi: 10.1002/2211-5463.12195. eCollection 2017 Mar.
• [5] ERK crosstalks with 4EBP1 to activate cyclin D1 translation during quinol-thioether-induced tuberous sclerosis renal cell carcinoma.Toxicol Sci. 2011 Nov;124(1):75-87. doi: 10.1093/toxsci/kfr203. Epub 2011 Aug 2.
• [6] Immunotherapy for Lymphangioleiomyomatosis and Tuberous Sclerosis: Progress and Future Directions.Chest. 2019 Dec;156(6):1062-1067. doi: 10.1016/j.chest.2019.08.005. Epub 2019 Aug 19.
• [7] 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.