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Multiple endocrine neoplasia, type 1(MEN1)

MedGen UID:
9957
Concept ID:
C0025267
Neoplastic Process
Synonyms: Endocrine adenomatosis multiple; MEA I; MEN 1; MEN I; MEN1; Wermer syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: MEN 1 - Multiple endocrine neoplasia syndrome type 1 (30664006); MEN 1 syndrome (30664006); Multiple endocrine neoplasia syndrome type 1 (30664006); Multiple endocrine neoplasia, type 1 (30664006); MEN, type 1 (30664006); Wermer syndrome (30664006); MEA, type 1 (30664006); Multiple endocrine adenomatosis, type 1 (30664006)
 
Gene (location): MEN1 (11q13.1)
OMIM®: 131100
Orphanet: ORPHA652

Disease characteristics

Excerpted from the GeneReview: Multiple Endocrine Neoplasia Type 1
Multiple endocrine neoplasia type 1 (MEN1) syndrome includes varying combinations of more than 20 endocrine and non-endocrine tumors. Endocrine tumors become evident by overproduction of hormones by the tumor or by growth of the tumor itself. Parathyroid tumors are the main MEN1-associated endocrinopathy; onset in 90% of individuals is between ages 20 and 25 years with hypercalcemia evident by age 50 years; hypercalcemia causes lethargy, depression, confusion, anorexia, constipation, nausea, vomiting, diuresis, dehydration, hypercalciuria, kidney stones, increased bone resorption/fracture risk, hypertension, and shortened QT interval. Pituitary tumors include prolactinoma (the most common) which manifests as oligomenorrhea/amenorrhea and galactorrhea in females and sexual dysfunction in males. Well-differentiated endocrine tumors of the gastro-entero-pancreatic (GEP) tract can manifest as Zollinger-Ellison syndrome (gastrinoma); hypoglycemia (insulinoma); hyperglycemia, anorexia, glossitis, anemia, diarrhea, venous thrombosis, and skin rash (glucagonoma); and watery diarrhea, hypokalemia, and achlorhydria syndrome (vasoactive intestinal peptide [VIP]-secreting tumor). Carcinoid tumors are non-hormone-secreting and can manifest as a large mass after age 50 years. Adrenocortical tumors can be associated with primary hypercortisolism or hyperaldosteronism. Non-endocrine tumors include facial angiofibromas, collagenomas, lipomas, meningiomas, ependymomas, and leiomyomas. [from GeneReviews]
Authors:
Francesca Giusti  |  Francesca Marini  |  Maria Luisa Brandi   view full author information

Additional descriptions

From OMIM
Multiple endocrine neoplasia type I (MEN1) is an autosomal dominant disorder characterized by varying combinations of tumors of parathyroids, pancreatic islets, duodenal endocrine cells, and the anterior pituitary, with 94% penetrance by age 50. Less commonly associated tumors include foregut carcinoids, lipomas, angiofibromas, thyroid adenomas, adrenocortical adenomas, angiomyolipomas, and spinal cord ependymomas. Except for gastrinomas, most of the tumors are nonmetastasizing, but many can create striking clinical effects because of the secretion of endocrine substances such as gastrin, insulin, parathyroid hormone, prolactin, growth hormone, glucagon, or adrenocorticotropic hormone (summary by Chandrasekharappa et al., 1997). Familial isolated hyperparathyroidism (see 145000) occasionally results from the incomplete expression of MEN1 (summary by Simonds et al., 2004). Genetic Heterogeneity of Multiple Endocrine Neoplasia Other forms of multiple endocrine neoplasia include MEN2A (171400) and MEN2B (162300), both of which are caused by mutation in the RET gene (164761), and MEN4 (610755), which is caused by mutation in the CDKN1B gene (600778).  http://www.omim.org/entry/131100
From GHR
Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands (the endocrine system). Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening.The major forms of multiple endocrine neoplasia are called type 1, type 2, and type 4. These types are distinguished by the genes involved, the types of hormones made, and the characteristic signs and symptoms.Many different types of tumors are associated with multiple endocrine neoplasia. Type 1 frequently involves tumors of the parathyroid glands, the pituitary gland, and the pancreas. Tumors in these glands can lead to the overproduction of hormones. The most common sign of multiple endocrine neoplasia type 1 is overactivity of the parathyroid glands (hyperparathyroidism). Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue.The most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is an adrenal gland tumor that can cause dangerously high blood pressure. Multiple endocrine neoplasia type 2 is divided into three subtypes: type 2A, type 2B (formerly called type 3), and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors; for example, hyperparathyroidism occurs only in type 2A, and medullary thyroid carcinoma is the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family.Multiple endocrine neoplasia type 4 appears to have signs and symptoms similar to those of type 1, although it is caused by mutations in a different gene. Hyperparathyroidism is the most common feature, followed by tumors of the pituitary gland, additional endocrine glands, and other organs.  https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia

Clinical features

Carcinoid tumor
MedGen UID:
2838
Concept ID:
C0007095
Neoplastic Process
Carcinoid tumors are rare, slow-growing cancers. They usually start in the lining of the digestive tract or in the lungs. They grow slowly and don't produce symptoms in the early stages. As a result, the average age of people diagnosed with digestive or lung carcinoids is about 60. . In later stages the tumors sometimes produce hormones that can cause carcinoid syndrome. The syndrome causes flushing of the face and upper chest, diarrhea, and trouble breathing. . Surgery is the main treatment for carcinoid tumors. If they haven't spread to other parts of the body, surgery can cure the cancer. .
Glucagonoma syndrome
MedGen UID:
4908
Concept ID:
C0017689
Neoplastic Process
An endocrine tumor of the pancreas that secretes excessive amounts of glucagon.
Insulinoma
MedGen UID:
43907
Concept ID:
C0021670
Neoplastic Process
A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia.
Pituitary adenoma
MedGen UID:
45933
Concept ID:
C0032000
Neoplastic Process
A benign epithelial tumor derived from intrinsic cells of the adenohypophysis.
Prolactinoma, familial
MedGen UID:
10936
Concept ID:
C0033375
Neoplastic Process
Prolactin-secreting pituitary adenoma, or prolactinoma, is the most common type of hormonally active pituitary adenoma. These tumors can also be seen as a feature of multiple endocrine neoplasia type I (MEN1; 131100). See also 102200 for a discussion of familial isolated pituitary adenoma (FIPA) and acromegaly due to a growth hormone (GH; 139250)-secreting pituitary adenoma, which are also caused by mutation in the AIP gene. Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem.
Abnormality of the thyroid gland
MedGen UID:
52747
Concept ID:
C0040128
Disease or Syndrome
Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. Thyroid problems include. -Goiter - enlargement of the thyroid gland. -Hyperthyroidism - when your thyroid gland makes more thyroid hormones than your body needs. -Hypothyroidism - when your thyroid gland does not make enough thyroid hormones. -Thyroid cancer. -Thyroid nodules - lumps in the thyroid gland. -Thyroiditis - swelling of the thyroid. Dept. of Health and Human Services Office on Women's Health.
Adrenocortical adenoma
MedGen UID:
61654
Concept ID:
C0206667
Neoplastic Process
Adrenocortical adenomas are benign tumors of the adrenal cortex.
Parathyroid adenoma
MedGen UID:
75502
Concept ID:
C0262587
Neoplastic Process
A benign tumor of the parathyroid gland that can cause hyperparathyroidism.
Increased circulating cortisol level
MedGen UID:
871175
Concept ID:
C4025651
Finding
Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Diarrhea means that you have loose, watery stools more than three times in one day. You may also have cramps, bloating, nausea and an urgent need to have a bowel movement. . Causes of diarrhea include bacteria, viruses or parasites, certain medicines, food intolerances and diseases that affect the stomach, small intestine or colon. In many cases, no cause can be found. . Although usually not harmful, diarrhea can become dangerous or signal a more serious problem. You should talk to your doctor if you have a strong pain in your abdomen or rectum, a fever, blood in your stools, severe diarrhea for more than three days or symptoms of dehydration. If your child has diarrhea, do not hesitate to call the doctor for advice. Diarrhea can be dangerous in children. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Insulinoma
MedGen UID:
43907
Concept ID:
C0021670
Neoplastic Process
A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia.
Zollinger-Ellison syndrome
MedGen UID:
53129
Concept ID:
C0043515
Disease or Syndrome
A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration.
Carcinoid tumor
MedGen UID:
2838
Concept ID:
C0007095
Neoplastic Process
Carcinoid tumors are rare, slow-growing cancers. They usually start in the lining of the digestive tract or in the lungs. They grow slowly and don't produce symptoms in the early stages. As a result, the average age of people diagnosed with digestive or lung carcinoids is about 60. . In later stages the tumors sometimes produce hormones that can cause carcinoid syndrome. The syndrome causes flushing of the face and upper chest, diarrhea, and trouble breathing. . Surgery is the main treatment for carcinoid tumors. If they haven't spread to other parts of the body, surgery can cure the cancer. .
Glucagonoma syndrome
MedGen UID:
4908
Concept ID:
C0017689
Neoplastic Process
An endocrine tumor of the pancreas that secretes excessive amounts of glucagon.
Insulinoma
MedGen UID:
43907
Concept ID:
C0021670
Neoplastic Process
A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia.
Subcutaneous lipoma
MedGen UID:
234674
Concept ID:
C1403035
Neoplastic Process
The presence of subcutaneous lipoma.
Adenoma sebaceum
MedGen UID:
75563
Concept ID:
C0265319
Neoplastic Process
The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.
Subcutaneous lipoma
MedGen UID:
234674
Concept ID:
C1403035
Neoplastic Process
The presence of subcutaneous lipoma.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple endocrine neoplasia, type 1
Follow this link to review classifications for Multiple endocrine neoplasia, type 1 in Orphanet.

Professional guidelines

PubMed

Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee.
Genet Med 2015 Jan;17(1):70-87. Epub 2014 Nov 13 doi: 10.1038/gim.2014.147. PMID: 25394175
ACMG Board of Directors.
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. PMID: 25356965
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics.
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. PMID: 23788249Free PMC Article
Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F, Brandi ML; Endocrine Society.
J Clin Endocrinol Metab 2012 Sep;97(9):2990-3011. Epub 2012 Jun 20 doi: 10.1210/jc.2012-1230. PMID: 22723327
Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K; American Society of Clinical Oncology.
J Clin Oncol 2010 Feb 10;28(5):893-901. Epub 2010 Jan 11 doi: 10.1200/JCO.2009.27.0660. PMID: 20065170
Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skrzynia C, Farrell C, Callif-Daley F, Vockley CW; National Society of Genetic Counselors.
J Genet Couns 2004 Apr;13(2):83-114. doi: 10.1023/B:JOGC.0000018821.48330.77. PMID: 15604628
Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, Lips CJ, Lombardi G, Mannelli M, Pacini F, Ponder BA, Raue F, Skogseid B, Tamburrano G, Thakker RV, Thompson NW, Tomassetti P, Tonelli F, Wells SA Jr, Marx SJ
J Clin Endocrinol Metab 2001 Dec;86(12):5658-71. doi: 10.1210/jcem.86.12.8070. PMID: 11739416

External

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Recent clinical studies

Etiology

Kytölä S, Leisti J, Winqvist R, Salmela P
Hum Genet 1995 Oct;96(4):449-53. PMID: 7557969
Rasbach DA, van Heerden JA, Telander RL, Grant CS, Carney JA
Arch Surg 1985 May;120(5):584-9. PMID: 2859009

Diagnosis

Kytölä S, Leisti J, Winqvist R, Salmela P
Hum Genet 1995 Oct;96(4):449-53. PMID: 7557969

Therapy

Robinson MF, Hayles AB, Heath H 3rd
J Clin Endocrinol Metab 1980 Oct;51(4):912-4. doi: 10.1210/jcem-51-4-912. PMID: 6106649

Clinical prediction guides

Crabtree JS, Scacheri PC, Ward JM, Garrett-Beal L, Emmert-Buck MR, Edgemon KA, Lorang D, Libutti SK, Chandrasekharappa SC, Marx SJ, Spiegel AM, Collins FS
Proc Natl Acad Sci U S A 2001 Jan 30;98(3):1118-23. doi: 10.1073/pnas.98.3.1118. PMID: 11158604Free PMC Article
Kytölä S, Leisti J, Winqvist R, Salmela P
Hum Genet 1995 Oct;96(4):449-53. PMID: 7557969
Robinson MF, Hayles AB, Heath H 3rd
J Clin Endocrinol Metab 1980 Oct;51(4):912-4. doi: 10.1210/jcem-51-4-912. PMID: 6106649

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