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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 called 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

Growth hormone excess
MedGen UID:
1304
Concept ID:
C0001206
Disease or Syndrome
Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.
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
AIP-related isolated familial pituitary adenoma (AIP-related FIPA) is defined as the presence of an AIP germline pathogenic variant in an individual with a pituitary adenoma (regardless of family history). The most commonly occurring pituitary adenomas in this disorder are growth hormone-secreting adenomas (somatotropinoma), followed by prolactin-secreting adenomas (prolactinoma), growth hormone and prolactin co-secreting adenomas (somatomammotropinoma), and non-functioning pituitary adenomas (NFPA). Rarely TSH- or ACTH-secreting adenomas (thyrotropinoma and corticotropinoma) are observed. Clinical findings result from excess hormone secretion, lack of hormone secretion, and/or mass effects (e.g., headaches, visual field loss). Within the same family, pituitary adenomas can be of the same or different type. Age of onset in AIP-related FIPA is around 20-24 years (age range: 6-66 years).
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. To diagnose thyroid diseases, doctors use a medical history, physical exam, and thyroid tests. They sometimes also use a biopsy. Treatment depends on the problem, but may include medicines, radioiodine therapy, or thyroid surgery. 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.
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
AIP-related isolated familial pituitary adenoma (AIP-related FIPA) is defined as the presence of an AIP germline pathogenic variant in an individual with a pituitary adenoma (regardless of family history). The most commonly occurring pituitary adenomas in this disorder are growth hormone-secreting adenomas (somatotropinoma), followed by prolactin-secreting adenomas (prolactinoma), growth hormone and prolactin co-secreting adenomas (somatomammotropinoma), and non-functioning pituitary adenomas (NFPA). Rarely TSH- or ACTH-secreting adenomas (thyrotropinoma and corticotropinoma) are observed. Clinical findings result from excess hormone secretion, lack of hormone secretion, and/or mass effects (e.g., headaches, visual field loss). Within the same family, pituitary adenomas can be of the same or different type. Age of onset in AIP-related FIPA is around 20-24 years (age range: 6-66 years).
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.
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.
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.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
What is diarrhea? Diarrhea is loose, watery stools (bowel movements). You have diarrhea if you have loose stools three or more times in one day. Acute diarrhea is diarrhea that lasts a short time. It is a common problem. It usually lasts about one or two days, but it may last longer. Then it goes away on its own. Diarrhea lasting more than a few days may be a sign of a more serious problem. Chronic diarrhea -- diarrhea that lasts at least four weeks -- can be a symptom of a chronic disease. Chronic diarrhea symptoms may be continual, or they may come and go. Who gets diarrhea? People of all ages can get diarrhea. On average, adults In the United States have acute diarrhea once a year. Young children have it an average of twice a year. People who visit developing countries are at risk for traveler's diarrhea. It is caused by consuming contaminated food or water. What causes diarrhea? The most common causes of diarrhea include. -Bacteria from contaminated food or water. -Viruses such as the flu, norovirus, or rotavirus . Rotavirus is the most common cause of acute diarrhea in children. -Parasites, which are tiny organisms found in contaminated food or water. -Medicines such as antibiotics, cancer drugs, and antacids that contain magnesium. -Food intolerances and sensitivities, which are problems digesting certain ingredients or foods. An example is lactose intolerance. -Diseases that affect the stomach, small intestine, or colon, such as Crohn's disease. -Problems with how the colon functions, such as irritable bowel syndrome. Some people also get diarrhea after stomach surgery, because sometimes the surgeries can cause food to move through your digestive system more quickly. Sometimes no cause can be found. If your diarrhea goes away within a few days, finding the cause is usually not necessary. What other symptoms might I have with diarrhea? Other possible symptoms of diarrhea include. -Cramps or pain in the abdomen. -An urgent need to use the bathroom. -Loss of bowel control. If a virus or bacteria is the cause of your diarrhea, you may also have a fever, chills, and bloody stools. Diarrhea can cause dehydration, which means that your body does not have enough fluid to work properly. Dehydration can be serious, especially for children, older adults, and people with weakened immune systems. When should I see a doctor for diarrhea? Although it is usually not harmful, diarrhea can become dangerous or signal a more serious problem. Contact your health care provider if you have. -Signs of dehydration. -Diarrhea for more than 2 days, if you are an adult. For children, contact the provider if it lasts more than 24 hours. -Severe pain in your abdomen or rectum (for adults). -A fever of 102 degrees or higher. -Stools containing blood or pus. -Stools that are black and tarry. If children have diarrhea, parents or caregivers should not hesitate to call a health care provider. Diarrhea can be especially dangerous in newborns and infants. How is the cause of diarrhea diagnosed? To find the cause of diarrhea, your health care provider may. -Do a physical exam. -Ask about any medicines you are taking. -Test your stool or blood to look for bacteria, parasites, or other signs of disease or infection. -Ask you to stop eating certain foods to see whether your diarrhea goes away. If you have chronic diarrhea, your health care provider may perform other tests to look for signs of disease. What are the treatments for diarrhea? Diarrhea is treated by replacing lost fluids and electrolytes to prevent dehydration. Depending on the cause of the problem, you may need medicines to stop the diarrhea or treat an infection. Adults with diarrhea should drink water, fruit juices, sports drinks, sodas without caffeine, and salty broths. As your symptoms improve, you can eat soft, bland food. Children with diarrhea should be given oral rehydration solutions to replace lost fluids and electrolytes. Can diarrhea be prevented? Two types of diarrhea can be prevented - rotavirus diarrhea and traveler's diarrhea. There are vaccines for rotavirus. They are given to babies in two or three doses. You can help prevent traveler's diarrhea by being careful about what you eat and drink when you are in developing countries:. -Use only bottled or purified water for drinking, making ice cubes, and brushing your teeth. -If you do use tap water, boil it or use iodine tablets. -Make sure that the cooked food you eat is fully cooked and served hot. -Avoid unwashed or unpeeled raw fruits and vegetables. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Esophagitis
MedGen UID:
4549
Concept ID:
C0014868
Disease or Syndrome
Inflammation of the esophagus.
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.
Peptic ulcer
MedGen UID:
45384
Concept ID:
C0030920
Disease or Syndrome
A peptic ulcer is a sore in the lining of your stomach or your duodenum, the first part of your small intestine. A burning stomach pain is the most common symptom. The pain. -Starts between meals or during the night. -Briefly stops if you eat or take antacids. -Lasts for minutes to hours. -Comes and goes for several days or weeks. Peptic ulcers happen when the acids that help you digest food damage the walls of the stomach or duodenum. The most common cause is infection with a bacterium called Helicobacter pylori. Another cause is the long-term use of nonsteroidal anti-inflammatory medicines (NSAIDs) such as aspirin and ibuprofen. Stress and spicy foods do not cause ulcers, but can make them worse. . To see if you have an H. pylori infection, your doctor will test your blood, breath, or stool. Your doctor also may look inside your stomach and duodenum by doing an endoscopy or x-ray. Peptic ulcers will get worse if not treated. Treatment may include medicines to reduce stomach acids or antibiotics to kill H. pylori. Antacids and milk can't heal peptic ulcers. Not smoking and avoiding alcohol can help. You may need surgery if your ulcers don't heal. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
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.
Growth hormone excess
MedGen UID:
1304
Concept ID:
C0001206
Disease or Syndrome
Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.
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
AIP-related isolated familial pituitary adenoma (AIP-related FIPA) is defined as the presence of an AIP germline pathogenic variant in an individual with a pituitary adenoma (regardless of family history). The most commonly occurring pituitary adenomas in this disorder are growth hormone-secreting adenomas (somatotropinoma), followed by prolactin-secreting adenomas (prolactinoma), growth hormone and prolactin co-secreting adenomas (somatomammotropinoma), and non-functioning pituitary adenomas (NFPA). Rarely TSH- or ACTH-secreting adenomas (thyrotropinoma and corticotropinoma) are observed. Clinical findings result from excess hormone secretion, lack of hormone secretion, and/or mass effects (e.g., headaches, visual field loss). Within the same family, pituitary adenomas can be of the same or different type. Age of onset in AIP-related FIPA is around 20-24 years (age range: 6-66 years).
Esophagitis
MedGen UID:
4549
Concept ID:
C0014868
Disease or Syndrome
Inflammation of the esophagus.
Hypercalcemia
MedGen UID:
5686
Concept ID:
C0020437
Disease or Syndrome
Abnormally high level of calcium in the blood.
Hypoglycemia
MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose. In most people, this raises blood sugar. If it doesn't, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include . -Hunger. -Shakiness. -Dizziness. -Confusion. -Difficulty speaking. -Feeling anxious or weak. In people with diabetes, hypoglycemia is often a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan. You can also have low blood sugar without having diabetes. Causes include certain medicines or diseases, hormone or enzyme deficiencies, and tumors. Laboratory tests can help find the cause. The kind of treatment depends on why you have low blood sugar. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
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.
Cafe-au-lait spot
MedGen UID:
113157
Concept ID:
C0221263
Finding
Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).
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.
Confetti-like hypopigmented macules
MedGen UID:
377093
Concept ID:
C1851705
Finding
Growth hormone excess
MedGen UID:
1304
Concept ID:
C0001206
Disease or Syndrome
Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.
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
AIP-related isolated familial pituitary adenoma (AIP-related FIPA) is defined as the presence of an AIP germline pathogenic variant in an individual with a pituitary adenoma (regardless of family history). The most commonly occurring pituitary adenomas in this disorder are growth hormone-secreting adenomas (somatotropinoma), followed by prolactin-secreting adenomas (prolactinoma), growth hormone and prolactin co-secreting adenomas (somatomammotropinoma), and non-functioning pituitary adenomas (NFPA). Rarely TSH- or ACTH-secreting adenomas (thyrotropinoma and corticotropinoma) are observed. Clinical findings result from excess hormone secretion, lack of hormone secretion, and/or mass effects (e.g., headaches, visual field loss). Within the same family, pituitary adenomas can be of the same or different type. Age of onset in AIP-related FIPA is around 20-24 years (age range: 6-66 years).
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. To diagnose thyroid diseases, doctors use a medical history, physical exam, and thyroid tests. They sometimes also use a biopsy. Treatment depends on the problem, but may include medicines, radioiodine therapy, or thyroid surgery. 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.

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.
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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.
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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

Knaus CM, Patronas NJ, Papadakis GZ, Short TK, Smirniotopoulos JG
Curr Probl Diagn Radiol 2016 Jul-Aug;45(4):278-83. Epub 2015 Sep 11 doi: 10.1067/j.cpradiol.2015.08.010. PMID: 26547632
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

Prognosis

Knaus CM, Patronas NJ, Papadakis GZ, Short TK, Smirniotopoulos JG
Curr Probl Diagn Radiol 2016 Jul-Aug;45(4):278-83. Epub 2015 Sep 11 doi: 10.1067/j.cpradiol.2015.08.010. PMID: 26547632

Clinical prediction guides

Knaus CM, Patronas NJ, Papadakis GZ, Short TK, Smirniotopoulos JG
Curr Probl Diagn Radiol 2016 Jul-Aug;45(4):278-83. Epub 2015 Sep 11 doi: 10.1067/j.cpradiol.2015.08.010. PMID: 26547632
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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