{"Name":"Multiple endocrine neoplasia type 2A","DiseaseID__c":"GARD:0004881","id":4881,"encodedName":"multiple-endocrine-neoplasia-type-2a","IsDeleted":false,"Disease_Name_Full__c":"Multiple endocrine neoplasia type 2A","Xref_IDs__c":"721188000; C0025268; C3226; D018813; DOID:0050430; MEDGEN:9958; MONDO:0008234; OMIM:171400; ORPHA:247698","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008234","Disease_Description__c":"A form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by medullary thyroid carcinoma in association with pheochromocytoma (one or both adrenal glands can be affected) and/or primary hyperparathyroidism (caused by parathyroid adenoma). Onset is typically later than in MEN2B, before 35 years of age. Diarrhea is the most frequent systemic symptom. Patients can develop Hirschsprung disease and, less frequently, cutaneous lichen amyloidosis or excessive production of adrenocorticotropic hormone.","GARD_Name__c":"Multiple endocrine neoplasia type 2A","GARD_Synonym__c":"mea type 2a; mea type ii; men (multiple endocrine neoplasia) type 2a; men 2a; men type 2a; men type ii; men-2a syndrome; men2a; men2a - multiple endocrine neoplasia type 2a; multiple endocrine adenomatosis type 2a; multiple endocrine adenomatosis type ii; multiple endocrine adenomatosis, type ii; multiple endocrine neoplasia ii; multiple endocrine neoplasia iia; multiple endocrine neoplasia type ii; multiple endocrine neoplasia, type ii; multiple endocrine neoplasia, type iia; pheochromocytoma and amyloid producing medullary thyroid carcinoma; ret-related multiple endocrine neoplasia type 2a","Curated_Disease_Description_Source__c":"GARD:0004881","Curated_Disease_Description__c":"Multiple endocrine neoplasia type 2A (MEN 2A) is is an inherited disorder caused by genetic changes in the RET gene. Individuals with MEN 2A are at high risk of developing medullary carcinoma of the thyroid. About 50% will develop pheochromocytoma, a tumor of the adrenal glands which may increase blood pressure. Individuals with MEN 2A are also at increased risk for parathyroid adenoma or hyperplasia (overgrowth of the parathyroid gland). Occasionally an itchy skin condition called cutaneous lichen amyloidosis also occurs in people with type 2A disease. The condition is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:247698","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008234","ORPHANET_ID__c":"ORPHA:247698","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neoplasia endocrina múltiple tipo 2a","Spanish_Description_Source__c":"ORPHA:247698","Spanish_Description__c":"Es una forma del síndrome de neoplasia endocrina múltiple tipo 2 (MEN2) que se caracteriza por carcinoma medular de tiroides en combinación con feocromocitoma (una o ambas glándulas suprarrenales pueden verse afectadas) y/o hiperparatiroidismo primario (causado por un adenoma paratiroideo). Su inicio suele ser más tardío que en la MEN2B, pero antes de los 35 años. La diarrea es el síntoma sistémico más frecuente. Los pacientes pueden desarrollar la enfermedad de Hirschsprung y, con menor frecuencia, amiloidosis cutánea liquenoide o producción excesiva de hormona adrenocorticotrópica.","Spanish_Disease_Name__c":"neoplasia endocrina múltiple tipo 2a","Spanish_GARD_Synonym__c":"men2a; nem2a; síndrome de sipple; síndrome ptc","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 type 2A (MEN 2A) is is an inherited disorder caused by genetic changes in the RET gene. Individuals with MEN 2A are at high risk of developing medullary carcinoma of the thyroid. About 50% will develop pheochromocytoma, a tumor of the adrenal glands which may increase blood pressure. Individuals with MEN 2A are also at increased risk for parathyroid adenoma or hyperplasia (overgrowth of the parathyroid gland). Occasionally an itchy skin condition called cutaneous lichen amyloidosis also occurs in people with type 2A disease. The condition is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0004881","GARD_Synonym__c":"mea type 2a; mea type ii; men (multiple endocrine neoplasia) type 2a; men 2a; men type 2a; men type ii; men-2a syndrome; men2a; men2a - multiple endocrine neoplasia type 2a; multiple endocrine adenomatosis type 2a; multiple endocrine adenomatosis type ii; multiple endocrine adenomatosis, type ii; multiple endocrine neoplasia ii; multiple endocrine neoplasia iia; multiple endocrine neoplasia type ii; multiple endocrine neoplasia, type ii; multiple endocrine neoplasia, type iia; pheochromocytoma and amyloid producing medullary thyroid carcinoma; ret-related multiple endocrine neoplasia type 2a","Name":"Multiple endocrine neoplasia type 2A","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"International Neuroendocrine Cancer Alliance","Website__c":"https://incalliance.org/"},{"Account_Name__c":"Association for Multiple Endocrine Neoplasia Disorders UK","Website__c":"https://www.amend.org.uk/"},{"Account_Name__c":"Association for Multiple Endocrine Neoplasia Disorders","Website__c":"https://amendusa.org/"}],"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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:247698"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0025268"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004881","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1257","Source__c":"Gene Review","Xref__c":"NBK1257"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9958","Source__c":"C0025268","Xref__c":"MEDGEN:9958"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018813","Source__c":"C0025268; MONDO:0008234","Xref__c":"D018813"},{"URL__c":"https://www.omim.org/entry/171400","Source__c":"C0025268; MONDO:0008234; ORPHA:247698","Xref__c":"OMIM:171400"},{"URL__c":"https://www.orpha.net/en/disease/detail/247698","Source__c":"C0025268; MONDO:0008234; ORPHA:247698","Xref__c":"ORPHA:247698"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050430","Source__c":"MONDO:0008234","Xref__c":"DOID:0050430"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721188000","Source__c":"C0025268; MONDO:0008234","Xref__c":"721188000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0025268","Source__c":"C0025268","Xref__c":"C0025268"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3226","Source__c":"C0025268; MONDO:0008234","Xref__c":"C3226"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008234","Source__c":"GARD:0004881","Xref__c":"MONDO:0008234"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RET","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ret","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:171400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011979","HPO_Synonym__c":"Elevated urinary dopamine","HPO_Name__c":"Elevated urinary dopamine level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:171400","Feature__r":{"HPO_Description__c":"An abnormal growth of parafollicular (C-cells) cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011781","HPO_Name__c":"Thyroid C cell hyperplasia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:171400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive production of parathyroid hormone (PTH) by the parathyroid glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000843","HPO_Synonym__c":"Elevated blood parathyroid hormone level","HPO_Name__c":"Hyperparathyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:171400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a medullary carcinoma of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002865","HPO_Name__c":"Medullary thyroid carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:171400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003345","HPO_Name__c":"Elevated urinary norepinephrine level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:171400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003528","HPO_Synonym__c":"Elevated calcitonin","HPO_Name__c":"Elevated circulating calcitonin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:171400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003639","HPO_Synonym__c":"Increased urinary epinephrine","HPO_Name__c":"Elevated urinary epinephrine level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:171400","Feature__r":{"HPO_Description__c":"An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002251","HPO_Synonym__c":"Enlarged colon lacking nerve cells; Hirschsprung megacolon","HPO_Name__c":"Aganglionic megacolon","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:171400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of vanillylmandelic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011978","HPO_Name__c":"Elevated urinary vanillylmandelic acid","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:171400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002666","HPO_Synonym__c":"Chromaffin tumors","HPO_Name__c":"Pheochromocytoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:171400","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100749","HPO_Synonym__c":"Chest pain; Thoracic pain","HPO_Name__c":"Chest pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:171400","Feature__r":{"HPO_Description__c":"Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032346","HPO_Name__c":"Cutaneous lichen amyloidosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:171400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100735","HPO_Name__c":"Hypertensive crisis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:171400","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001962","HPO_Synonym__c":"Heart palpitations; Missed heart beat; Palpitations; Skipped heart beat","HPO_Name__c":"Palpitations","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:171400","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003118","HPO_Synonym__c":"Cushing syndrome; Hypercortisolism; Increased circulating cortisol level; Increased cortisol production","HPO_Name__c":"Increased circulating cortisol level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:171400","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:171400","Feature__r":{"HPO_Description__c":"A benign tumor of the parathyroid gland that can cause hyperparathyroidism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002897","HPO_Synonym__c":"Parathyroid adenomas","HPO_Name__c":"Parathyroid adenoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:171400","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:171400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A nodular lesion that develops in the thyroid gland. The term \\\"thyroid nodule\\\" refers to any abnormal growth that forms a lump in the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025388","HPO_Name__c":"Thyroid nodule","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Endocrine","Gastroenterology","Pediatrics"],"Disease Category":["Cancer","Genetics","Endocrine","Gastroenterology"],"Cause":["Genetics"]},"synonyms":["mea type 2a"," mea type ii"," men (multiple endocrine neoplasia) type 2a"," men 2a"," men type 2a"," men type ii"," men-2a syndrome"," men2a"," men2a - multiple endocrine neoplasia type 2a"," multiple endocrine adenomatosis type 2a"," multiple endocrine adenomatosis type ii"," multiple endocrine adenomatosis, type ii"," multiple endocrine neoplasia ii"," multiple endocrine neoplasia iia"," multiple endocrine neoplasia type ii"," multiple endocrine neoplasia, type ii"," multiple endocrine neoplasia, type iia"," pheochromocytoma and amyloid producing medullary thyroid carcinoma"," ret-related multiple endocrine neoplasia type 2a"]}