{"Name":"Multiple endocrine neoplasia","DiseaseID__c":"GARD:0021044","id":21044,"encodedName":"multiple-endocrine-neoplasia","IsDeleted":false,"Disease_Name_Full__c":"Multiple endocrine neoplasia","Xref_IDs__c":"46724008; C0027662; C6432; D009377; DOID:3125; E31.2; MEDGEN:45036; MONDO:0017169; OMIMPS:131100; ORPHA:276161","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017169","Disease_Description__c":"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.","GARD_Name__c":"Multiple endocrine neoplasia","GARD_Synonym__c":"endocrine adenomatosis; familial polyendocrine adenomatosis; mea - multiple endocrine adenomatosis; men; men - multiple endocrine neoplasia; men syndrome; men syndromes; multiple endocrine adenomas; multiple endocrine adenomatosis; multiple endocrine neoplasia syndrome; multiple endocrine neoplasia syndrome(s); multiple endocrine tumasia","Curated_Disease_Description_Source__c":"MONDO:0017169","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:276161","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017169","ORPHANET_ID__c":"ORPHA:276161","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neoplasia endocrina múltiple","Spanish_Description_Source__c":"ORPHA:276161","Spanish_Description__c":"Es un grupo de síndromes de cáncer hereditario poco frecuente caracterizados por el desarrollo de dos o más tumores en las glándulas endocrinas, acompañado en ocasiones de tumores en otros tejidos u órganos.","Spanish_Disease_Name__c":"neoplasia endocrina múltiple","Spanish_GARD_Synonym__c":"men","Category_Linearization__c":"ORPHA:250908","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"MONDO:0017169","GARD_Synonym__c":"endocrine adenomatosis; familial polyendocrine adenomatosis; mea - multiple endocrine adenomatosis; men; men - multiple endocrine neoplasia; men syndrome; men syndromes; multiple endocrine adenomas; multiple endocrine adenomatosis; multiple endocrine neoplasia syndrome; multiple endocrine neoplasia syndrome(s); multiple endocrine tumasia","Name":"Multiple endocrine neoplasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:276161"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C6432","Source__c":"C0027662; MONDO:0017169","Xref__c":"C6432"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C009377","Source__c":"C0027662; MONDO:0017169","Xref__c":"D009377"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS131100","Source__c":"MONDO:0017169","Xref__c":"OMIMPS:131100"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0027662","Source__c":"C0027662","Xref__c":"C0027662"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=45036","Source__c":"C0027662","Xref__c":"MEDGEN:45036"},{"URL__c":"https://www.orpha.net/en/disease/detail/276161","Source__c":"C0027662; MONDO:0017169; ORPHA:276161","Xref__c":"ORPHA:276161"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3125","Source__c":"MONDO:0017169","Xref__c":"DOID:3125"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=46724008","Source__c":"MONDO:0017169","Xref__c":"46724008"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=60549007","Source__c":"C0027662","Xref__c":"60549007"},{"URL__c":"https://medlineplus.gov/genetics/condition/multiple-endocrine-neoplasia","Source__c":"GARD:0021044","Xref__c":"https://medlineplus.gov/genetics/condition/multiple-endocrine-neoplasia"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E31.2","Source__c":"MONDO:0017169","Xref__c":"E31.2"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017169","Source__c":"GARD:0021044","Xref__c":"MONDO:0017169"},{"URL__c":"https://www.cancer.gov/types/multiple-endocrine-neoplasia/patient-child-men-syndromes-treatment-pdq"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Endocrine","Pediatrics"],"Disease Category":["Cancer","Genetics","Endocrine"],"Cause":["Genetics"]},"synonyms":["endocrine adenomatosis"," familial polyendocrine adenomatosis"," mea - multiple endocrine adenomatosis"," men"," men - multiple endocrine neoplasia"," men syndrome"," men syndromes"," multiple endocrine adenomas"," multiple endocrine adenomatosis"," multiple endocrine neoplasia syndrome"," multiple endocrine neoplasia syndrome(s)"," multiple endocrine tumasia"]}