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Results: 3

1.

MEN1 SOMATIC MUTATIONS

MedGen UID:
460587
Concept ID:
C3149237
Disease or Syndrome
2.

Zollinger-Ellison syndrome

A syndrome characterized by the presence of a gastrin-secreting tumor, usually in the pancreas or duodenum, resulting in increased gastric acidity and formation of gastric ulcers. Signs and symptoms include abdominal pain and diarrhea. It may be sporadic or a manifestation of multiple endocrine neoplasia type 1. [from NCI]

MedGen UID:
53129
Concept ID:
C0043515
Disease or Syndrome
3.

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]

MedGen UID:
9957
Concept ID:
C0025267
Neoplastic Process

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