Details of Disease

General Information of Disease (ID: DISPQ4Y5)

• Disease Name: Multiple endocrine neoplasia type 2
• Synonyms: multiple endocrine neoplasia type 2; MEN2
• Definition: Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC).
• Disease Hierarchy:
  DISMNGZ0: Thyroid gland carcinoma
  DISZGBKW: Multiple endocrine neoplasia
  DISPQ4Y5: Multiple endocrine neoplasia type 2
• Disease Identifiers:
  MONDO ID: MONDO_0019003
  UMLS CUI: C4048306
  MedGen ID: 887211
  Orphanet ID: 653
  SNOMED CT ID: 61808009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CALCA	TTVSFJW	Strong	Biomarker	[1]
MAZ	TT059DA	Strong	Biomarker	[2]
SDHD	TTVH9W8	Strong	Biomarker	[3]
VHL	TTEMWSD	Strong	Genetic Variation	[4]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MT1A	DE5ME8A	Strong	Biomarker	[5]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GFRA4	OTOLGKQM	Limited	Altered Expression	[6]
HNRNPA3	OT4O4NFS	Limited	Genetic Variation	[7]
MAX	OTKZ0YKM	Strong	Genetic Variation	[8]
MEN1	OTN6U6V0	Strong	Biomarker	[9]
SDHB	OTRE1M1T	Strong	Altered Expression	[10]
SIN3A	OTM8OZWV	Strong	Biomarker	[11]

References

• [1] Medullary Thyroid Carcinoma: Survival Analysis and Evaluation of Mutation-Specific Immunohistochemistry in Detection of Sporadic Disease.World J Surg. 2018 May;42(5):1432-1439. doi: 10.1007/s00268-018-4551-8.
• [2] Transcriptional regulation of phenylethanolamine N-methyltransferase in pheochromocytomas from patients with von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2.Ann N Y Acad Sci. 2006 Aug;1073:241-52. doi: 10.1196/annals.1353.026.
• [3] A current review of the etiology, diagnosis, and treatment of pediatric pheochromocytoma and paraganglioma.J Clin Endocrinol Metab. 2010 May;95(5):2023-37. doi: 10.1210/jc.2009-2830. Epub 2010 Mar 9.
• [4] Urinary free (unconjugated) metadrenalines in different hereditary forms of catecholamine-secreting phaeochromocytoma/paraganglioma.Ann Clin Biochem. 2012 Sep;49(Pt 5):486-90. doi: 10.1258/acb.2012.012021. Epub 2012 Aug 22.
• [5] Novel targeted therapeutics for MEN2.Endocr Relat Cancer. 2018 Feb;25(2):T53-T68. doi: 10.1530/ERC-17-0297.
• [6] Human glial cell line-derived neurotrophic factor receptor alpha 4 is the receptor for persephin and is predominantly expressed in normal and malignant thyroid medullary cells.J Biol Chem. 2001 Mar 23;276(12):9344-51. doi: 10.1074/jbc.M008279200. Epub 2000 Dec 14.
• [7] A 1.5-megabase yeast artificial chromosome contig from human chromosome 10q11.2 connecting three genetic loci (RET, D10S94, and D10S102) closely linked to the MEN2A locus.Proc Natl Acad Sci U S A. 1993 Jan 15;90(2):492-6. doi: 10.1073/pnas.90.2.492.
• [8] Extent of surgery for phaeochromocytomas in the genomic era.Br J Surg. 2018 Jan;105(2):e84-e98. doi: 10.1002/bjs.10744.
• [9] CT- and ultrasound-characteristics of hepatic lesions in patients with multiple endocrine neoplasia syndrome. A retrospective image review of 25 cases.PLoS One. 2019 Feb 28;14(2):e0212865. doi: 10.1371/journal.pone.0212865. eCollection 2019.
• [10] An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.Lancet Oncol. 2009 Aug;10(8):764-71. doi: 10.1016/S1470-2045(09)70164-0. Epub 2009 Jul 1.
• [11] Sin3a acts through a multi-gene module to regulate invasion in Drosophila and human tumors.Oncogene. 2013 Jun 27;32(26):3184-97. doi: 10.1038/onc.2012.326. Epub 2012 Aug 13.