KEGG   DISEASE: Multiple endocrine neoplasia syndrome (MEN)Help
Entry
H00247                      Disease                                

Name
Multiple endocrine neoplasia syndrome (MEN);
Wermer syndrome;
Sipple's syndrome
Description
Multiple endocrine neoplasias (MEN) are autosomal dominant syndrome which is characterized by the occurrence of tumors involving two or more endocrine glands. Four major forms of MEN are recognized, namely MEN1, MEN2A, MEN2B and MEN4. MEN1, which is also referred as Wermer's syndrome, is characterized by parathyroid adenoma, gastrinoma, and pituitary adenoma. Gastrinomas are the most common type, leading to the Zollinger-Ellison Syndrome (see H01522). MEN2 are characterized by medullary thyroid cancer (MTC) and includes three subtypes: MEN2A (Sipple's syndrome), MEN2B (MEN3) and familial MTC. MEN2A develop MTC in association with phaeochromocytoma and parathyroid tumors. MEN2B develop MTC in association with marfanoid habitus, mucosal neuromas, medullated corneal fibers and intestinal autonomic ganglion dysfunction, leading to megacolon. MEN4, also referred to as MENX, appears to have signs and symptoms similar to those of type 1. However MEN4 patients have mutations in other genes. The mutations in their responsible genes are found in Each MEN syndrome.
Category
Endocrine disease; Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of endocrine organs
   H00247  Multiple endocrine neoplasia syndrome (MEN)
Human diseases in ICD-10 classification [BR:br08403]
 2. Neoplasms (C00-D48)
  D37-D48  Neoplasms of uncertain or unknown behaviour
   D44  Neoplasm of uncertain or unknown behaviour of endocrine glands
    H00247  Multiple endocrine neoplasia syndrome (MEN)
BRITE hierarchy
Gene
(MEN1) MEN1 [HSA:4221] [KO:K14970]
(MEN2A MEN2B) RET [HSA:5979] [KO:K05126]
(MEN4) CDKN1B [HSA:1027] [KO:K06624]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Falchetti A, Marini F, Luzi E, Tonelli F, Brandi ML
  Title
Multiple endocrine neoplasms.
  Journal
Best Pract Res Clin Rheumatol 22:149-63 (2008)
DOI:10.1016/j.berh.2007.11.010
Reference
  Authors
Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Hofler H, Fend F, Graw J, Atkinson MJ
  Title
Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans.
  Journal
Proc Natl Acad Sci U S A 103:15558-63 (2006)
DOI:10.1073/pnas.0603877103
Reference
  Authors
Lakhani VT, You YN, Wells SA
  Title
The multiple endocrine neoplasia syndromes.
  Journal
Annu Rev Med 58:253-65 (2007)
DOI:10.1146/annurev.med.58.100305.115303
Reference
  Authors
Dreijerink KM, Hoppener JW, Timmers HM, Lips CJ
  Title
Mechanisms of disease: multiple endocrine neoplasia type 1-relation to chromatin modifications and transcription regulation.
  Journal
Nat Clin Pract Endocrinol Metab 2:562-70 (2006)
DOI:10.1038/ncpendmet0292
Reference
  Authors
Marx SJ
  Title
Molecular genetics of multiple endocrine neoplasia types 1 and 2.
  Journal
Nat Rev Cancer 5:367-75 (2005)
DOI:10.1038/nrc1610
Reference
  Authors
Carling T
  Title
Multiple endocrine neoplasia syndrome: genetic basis for clinical management.
  Journal
Curr Opin Oncol 17:7-12 (2005)
Reference
  Authors
Thakker RV
  Title
Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4).
  Journal
Mol Cell Endocrinol 386:2-15 (2014)
DOI:10.1016/j.mce.2013.08.002
Reference
  Authors
Walls GV
  Title
Multiple endocrine neoplasia (MEN) syndromes.
  Journal
Semin Pediatr Surg 23:96-101 (2014)
DOI:10.1053/j.sempedsurg.2014.03.008
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