{"Name":"Medullary thyroid carcinoma","DiseaseID__c":"GARD:0007004","id":7004,"encodedName":"medullary-thyroid-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Medullary thyroid carcinoma","Xref_IDs__c":"1332275004; 255032005; C0238462; C3879; DOID:3973; HP:0002865; MEDGEN:66772; MONDO:0015277; ORPHA:1332","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015277","Disease_Description__c":"A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy.","GARD_Name__c":"Medullary thyroid carcinoma","GARD_Synonym__c":"c cell carcinoma; c cell neuroendocrine neoplasm; carcinoma of parafollicular cell; carcinoma, c-cell, malignant; medullary carcinoma; medullary carcinoma of the thyroid; medullary carcinoma of the thyroid gland; medullary carcinoma of thyroid; medullary carcinoma of thyroid gland; medullary thyroid cancer; medullary thyroid gland carcinoma; mtc; mtc - medullary thyroid carcinoma; parafollicular cell carcinoma; thyroid gland medullary cancer; thyroid gland medullary carcinoma; thyroid gland neuroendocrine carcinoma; thyroid medullary carcinoma; ultimobranchial thyroid tumor; ultimobranchial thyroid tumour","Curated_Disease_Description_Source__c":"MONDO:0015277","Curated_Disease_Description__c":"A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:1332","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015277","ORPHANET_ID__c":"ORPHA:1332","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Carcinoma medular de tiroides","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"carcinoma medular de tiroides","Spanish_GARD_Synonym__c":"mtc","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":"A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy.","Curated_Disease_Description_Source__c":"MONDO:0015277","GARD_Synonym__c":"c cell carcinoma; c cell neuroendocrine neoplasm; carcinoma of parafollicular cell; carcinoma, c-cell, malignant; medullary carcinoma; medullary carcinoma of the thyroid; medullary carcinoma of the thyroid gland; medullary carcinoma of thyroid; medullary carcinoma of thyroid gland; medullary thyroid cancer; medullary thyroid gland carcinoma; mtc; mtc - medullary thyroid carcinoma; parafollicular cell carcinoma; thyroid gland medullary cancer; thyroid gland medullary carcinoma; thyroid gland neuroendocrine carcinoma; thyroid medullary carcinoma; ultimobranchial thyroid tumor; ultimobranchial thyroid tumour","Name":"Medullary thyroid carcinoma","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"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":"Neuroendocrine Tumor Research Foundation","Website__c":"https://netrf.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":"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:1332"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0238462"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3879","Source__c":"C0238462; MONDO:0015277","Xref__c":"C3879"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0238462","Source__c":"C0238462","Xref__c":"C0238462"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3973","Source__c":"MONDO:0015277","Xref__c":"DOID:3973"},{"URL__c":"https://www.orpha.net/en/disease/detail/1332","Source__c":"C0238462; MONDO:0015277; ORPHA:1332","Xref__c":"ORPHA:1332"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=255032005","Source__c":"C0238462; MONDO:0015277","Xref__c":"255032005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=66772","Source__c":"C0238462","Xref__c":"MEDGEN:66772"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015277","Source__c":"GARD:0007004","Xref__c":"MONDO:0015277"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1332275004","Source__c":"C0238462","Xref__c":"1332275004"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002865","Source__c":"C0238462","Xref__c":"HP:0002865"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1332","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001618","HPO_Synonym__c":"Inability to produce voice sounds; Voice change","HPO_Name__c":"Dysphonia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1332","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Tumor of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100526","HPO_Synonym__c":"Lung tumor","HPO_Name__c":"Neoplasm of the lung","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1332","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008200","HPO_Name__c":"Primary hyperparathyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1332","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":"ORPHA:1332","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030146","HPO_Name__c":"Abnormal liver parenchyma morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1332","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the skeleton.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010622","HPO_Synonym__c":"Skeletal tumor","HPO_Name__c":"Neoplasm of the skeletal system","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1332","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:1332","HPO_Frequency__c":"Always (100%)","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":"ORPHA:1332","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Enlargement of the thyroid gland related to one or more nodules in the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005994","HPO_Name__c":"Nodular goiter","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1332","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Endocrine"],"Disease Category":["Cancer","Endocrine"]},"synonyms":["c cell carcinoma"," c cell neuroendocrine neoplasm"," carcinoma of parafollicular cell"," carcinoma, c-cell, malignant"," medullary carcinoma"," medullary carcinoma of the thyroid"," medullary carcinoma of the thyroid gland"," medullary carcinoma of thyroid"," medullary carcinoma of thyroid gland"," medullary thyroid cancer"," medullary thyroid gland carcinoma"," mtc"," mtc - medullary thyroid carcinoma"," parafollicular cell carcinoma"," thyroid gland medullary cancer"," thyroid gland medullary carcinoma"," thyroid gland neuroendocrine carcinoma"," thyroid medullary carcinoma"," ultimobranchial thyroid tumor"," ultimobranchial thyroid tumour"]}