Details of Disease | DrugMAP

General Information of Disease (ID: DISZGBKW)

Disease Name	Multiple endocrine neoplasia
Synonyms	multiple endocrine neoplasia; multiple endocrine neoplasia syndrome(s); men syndrome; multiple endocrine neoplasia syndrome; men syndromes; men; multiple endocrine adenomatosis
Definition	Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.
Disease Hierarchy	DISQNN82: Multiple polyglandular tumor DISGXLG5: Hereditary neoplastic syndrome DIS2IQBH: Neurocristopathy DISZGBKW: Multiple endocrine neoplasia
Disease Identifiers	MONDO ID MONDO_0017169 MESH ID D009377 UMLS CUI C0027662 MedGen ID 45036 Orphanet ID 276161 SNOMED CT ID 60549007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GHRL	TT1OCL0	Limited	Biomarker	[1]
GHSR	TTWDC17	Limited	Biomarker	[1]
VHL	TTEMWSD	moderate	Biomarker	[2]
CALCA	TTVSFJW	Strong	Biomarker	[3]
PDE11A	TTTWC79	Strong	Genetic Variation	[4]
PPY	TTIB95A	Definitive	Biomarker	[5]
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⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDKN2B	OTAG24N1	Limited	Autosomal dominant	[6]
CIB1	OT4BVCRU	Limited	Genetic Variation	[7]
RYK	OTZ3WWZH	Limited	Genetic Variation	[8]
AIP	OTDJ3OSV	Strong	Genetic Variation	[9]
CALB1	OTM7IXDG	Strong	Genetic Variation	[10]
CD109	OTDADBM4	Strong	Altered Expression	[11]
CDC73	OT6JASZ1	Strong	Biomarker	[12]
FRS2	OTDMD800	Strong	Genetic Variation	[13]
GFRA4	OTOLGKQM	Strong	Biomarker	[14]
MEA1	OT72PHSG	Strong	Genetic Variation	[15]
MEN1	OTN6U6V0	Strong	Biomarker	[16]
PDE8B	OT4217NK	Strong	Genetic Variation	[4]
RPA2	OTZ54WAF	Strong	Biomarker	[17]
SDHB	OTRE1M1T	Strong	Biomarker	[4]
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⏷ Show the Full List of 14 DOT(s)

References

1	Obesity in MENX Rats Is Accompanied by High Circulating Levels of Ghrelin and Improved Insulin Sensitivity.Diabetes. 2016 Feb;65(2):406-20. doi: 10.2337/db15-0374. Epub 2015 Oct 28.
2	Pheochromocytomas and Paragangliomas: An Update on Recent Molecular Genetic Advances and Criteria for Malignancy.Adv Anat Pathol. 2015 Sep;22(5):283-93. doi: 10.1097/PAP.0000000000000086.
3	Hereditary and familial thyroid tumours.Histopathology. 2018 Jan;72(1):70-81. doi: 10.1111/his.13373.
4	Multiple endocrine neoplasias: advances and challenges for the future.J Intern Med. 2009 Jul;266(1):1-4. doi: 10.1111/j.1365-2796.2009.02108.x.
5	Pancreatic polypeptide update: its roles in detection of the trait for multiple endocrine adenopathy syndrome, type I and pancreatic polypeptide-secreting tumors.Surgery. 1983 Dec;94(6):1028-37.
6	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
7	p27 variant and corticotropinoma susceptibility: a genetic and in vitro study.Endocr Relat Cancer. 2014 Apr 28;21(3):395-404. doi: 10.1530/ERC-13-0486. Print 2014 Jun.
8	A potential pathogenetic mechanism for multiple endocrine neoplasia type 2 syndromes involves ret-induced impairment of terminal differentiation of neuroepithelial cells.Proc Natl Acad Sci U S A. 1996 Jul 23;93(15):7933-7. doi: 10.1073/pnas.93.15.7933.
9	Prevalence of AIP mutations in a large series of sporadic Italian acromegalic patients and evaluation of CDKN1B status in acromegalic patients with multiple endocrine neoplasia.Eur J Endocrinol. 2010 Sep;163(3):369-76. doi: 10.1530/EJE-10-0327. Epub 2010 Jun 7.
10	Genetic linkage analysis in familial benign hypercalcemia using a candidate gene strategy. I. Studies in four families.J Clin Endocrinol Metab. 1992 Sep;75(3):846-51. doi: 10.1210/jcem.75.3.1517376.
11	Expression of CD109 in human cancer.Oncogene. 2004 Apr 29;23(20):3716-20. doi: 10.1038/sj.onc.1207418.
12	Familial isolated hyperparathyroidism caused by single adenoma: a distinct entity different from multiple endocrine neoplasia.Endocr J. 1998 Oct;45(5):637-46. doi: 10.1507/endocrj.45.637.
13	Identification of SNT/FRS2 docking site on RET receptor tyrosine kinase and its role for signal transduction.Oncogene. 2001 Apr 12;20(16):1929-38. doi: 10.1038/sj.onc.1204290.
14	A model for GFR alpha 4 function and a potential modifying role in multiple endocrine neoplasia 2.Oncogene. 2005 Feb 3;24(6):1091-7. doi: 10.1038/sj.onc.1207826.
15	Multiple endocrine neoplasia type 2b in twins.Histopathology. 1982 Jan;6(1):111-9. doi: 10.1111/j.1365-2559.1982.tb02706.x.
16	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.
17	The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene.Mol Cell Biol. 2003 Jan;23(2):493-509. doi: 10.1128/MCB.23.2.493-509.2003.