{"Name":"Thyroid gland undifferentiated (anaplastic) carcinoma","DiseaseID__c":"GARD:0000664","id":664,"encodedName":"thyroid-gland-undifferentiated-anaplastic-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Thyroid gland undifferentiated (anaplastic) carcinoma","Xref_IDs__c":"255031003; 423022340; C0238461; C3878; D065646; DOID:0080522; MEDGEN:116064; MONDO:0006468; ORPHA:142","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":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0006468","Disease_Description__c":"A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive.","GARD_Name__c":"Thyroid gland undifferentiated (anaplastic) carcinoma","GARD_Synonym__c":"anaplastic carcinoma of the thyroid; anaplastic carcinoma of the thyroid gland; anaplastic carcinoma of thyroid; anaplastic carcinoma of thyroid gland; anaplastic thyroid cancer; anaplastic thyroid carcinoma; anaplastic thyroid gland carcinoma; dedifferentiated thyroid gland carcinoma; metaplastic thyroid gland carcinoma; pleomorphic thyroid gland carcinoma; sarcomatoid thyroid gland carcinoma; thyroid cancer, anaplastic; thyroid carcinoma, anaplastic, somatic; thyroid gland carcinosarcoma; thyroid gland undifferentiated carcinoma; undifferentiated (anaplastic) thyroid gland cancer; undifferentiated (anaplastic) thyroid gland carcinoma; undifferentiated carcinoma of the thyroid; undifferentiated carcinoma of the thyroid gland; undifferentiated carcinoma of thyroid; undifferentiated carcinoma of thyroid gland; undifferentiated thyroid carcinoma; undifferentiated thyroid gland carcinoma; undifferentiated thyroid tumor; undifferentiated thyroid tumour","Curated_Disease_Description_Source__c":"GARD:0000664","Curated_Disease_Description__c":"Anaplastic thyroid cancer (ATC) accounts for less than 2% of all thyroid cancers and is the most aggressive type of thyroid cancer. Women are more likely to be affected than men. ATC generally occurs in individuals with a history of goiter or thyroid cancer. A history of head and neck radiation or exposure to radioactive materials may also increase the risk for ATC. Patients with ATC generally present with a rapidly-growing neck mass which may cause trouble swallowing (dysphagia), coughing, neck pain, and trouble breathing (dyspnea). Metastasis is present in more than half of individuals at the time of diagnosis. Patients with metastases may also present with bone pain, lymph node enlargement, weakness, and neurological deficits.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:142","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0006468","ORPHANET_ID__c":"ORPHA:142","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Carcinoma anaplásico de tiroides","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"carcinoma anaplásico de tiroides","Spanish_GARD_Synonym__c":null,"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":"Anaplastic thyroid cancer (ATC) accounts for less than 2% of all thyroid cancers and is the most aggressive type of thyroid cancer. Women are more likely to be affected than men. ATC generally occurs in individuals with a history of goiter or thyroid cancer. A history of head and neck radiation or exposure to radioactive materials may also increase the risk for ATC. Patients with ATC generally present with a rapidly-growing neck mass which may cause trouble swallowing (dysphagia), coughing, neck pain, and trouble breathing (dyspnea). Metastasis is present in more than half of individuals at the time of diagnosis. Patients with metastases may also present with bone pain, lymph node enlargement, weakness, and neurological deficits.","Curated_Disease_Description_Source__c":"GARD:0000664","GARD_Synonym__c":"anaplastic carcinoma of the thyroid; anaplastic carcinoma of the thyroid gland; anaplastic carcinoma of thyroid; anaplastic carcinoma of thyroid gland; anaplastic thyroid cancer; anaplastic thyroid carcinoma; anaplastic thyroid gland carcinoma; dedifferentiated thyroid gland carcinoma; metaplastic thyroid gland carcinoma; pleomorphic thyroid gland carcinoma; sarcomatoid thyroid gland carcinoma; thyroid cancer, anaplastic; thyroid carcinoma, anaplastic, somatic; thyroid gland carcinosarcoma; thyroid gland undifferentiated carcinoma; undifferentiated (anaplastic) thyroid gland cancer; undifferentiated (anaplastic) thyroid gland carcinoma; undifferentiated carcinoma of the thyroid; undifferentiated carcinoma of the thyroid gland; undifferentiated carcinoma of thyroid; undifferentiated carcinoma of thyroid gland; undifferentiated thyroid carcinoma; undifferentiated thyroid gland carcinoma; undifferentiated thyroid tumor; undifferentiated thyroid tumour","Name":"Thyroid gland undifferentiated (anaplastic) carcinoma","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"ThyCa: Thyroid Cancer Survivors' Association, Inc.","Website__c":"https://www.thyca.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":"Elderly","Provided_By__c":"ORPHA:142"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:142"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080522","Source__c":"MONDO:0006468","Xref__c":"DOID:0080522"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0238461","Source__c":"C0238461","Xref__c":"C0238461"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=116064","Source__c":"C0238461","Xref__c":"MEDGEN:116064"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C065646","Source__c":"C0238461; MONDO:0006468","Xref__c":"D065646"},{"URL__c":"https://www.orpha.net/en/disease/detail/142","Source__c":"C0238461; MONDO:0006468; ORPHA:142","Xref__c":"ORPHA:142"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=255031003","Source__c":"C0238461; MONDO:0006468","Xref__c":"255031003"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3878","Source__c":"C0238461; MONDO:0006468","Xref__c":"C3878"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011779","Source__c":"C0238461","Xref__c":"HP:0011779"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0006468","Source__c":"GARD:0000664","Xref__c":"MONDO:0006468"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022340","Xref__c":"423022340"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:142","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased resistance to the passage of air in the upper airway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002781","HPO_Synonym__c":"Upper airway obstruction","HPO_Name__c":"Upper airway obstruction","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:142","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:142","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:142","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001609","HPO_Synonym__c":"Hoarse voice; Hoarseness; Husky voice","HPO_Name__c":"Hoarse voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:142","HPO_Frequency__c":"Frequent (30-79%)","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:142","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased side-to-side width of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000475","HPO_Synonym__c":"Broad neck; Increased width of neck; Wide neck","HPO_Name__c":"Broad neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:142","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:142","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:142","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal connection (fistula) between the esophagus and the trachea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002575","HPO_Name__c":"Tracheoesophageal fistula","Feature_System__c":"Respiratory system; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:142","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An enlargement of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000853","HPO_Synonym__c":"Enlarged thyroid gland in neck; Thyroid goiter","HPO_Name__c":"Goiter","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:142","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural abnormality of a skeletal muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011805","HPO_Synonym__c":"Abnormal muscle morphology; Abnormality of muscle morphology; Abnormally shaped muscle; Issue with muscle structure","HPO_Name__c":"Abnormal skeletal muscle morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:142","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:142","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004894","HPO_Name__c":"Laryngotracheal stenosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:142","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010307","HPO_Name__c":"Stridor","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:142","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:142","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"}},{"Provided_By__c":"ORPHA:142","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:142","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002105","HPO_Synonym__c":"Coughing up blood","HPO_Name__c":"Hemoptysis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:142","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:142","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011779","HPO_Name__c":"Anaplastic thyroid carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:142","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:142","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A loss of the ability to move the vocal folds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001605","HPO_Synonym__c":"Inability to move vocal cords; Laryngeal paralysis","HPO_Name__c":"Vocal cord paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:142","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100836","HPO_Synonym__c":"Malignant neoplasm of the CNS","HPO_Name__c":"Malignant neoplasm of the central nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Endocrine"],"Disease Category":["Cancer","Endocrine"]},"synonyms":["anaplastic carcinoma of the thyroid"," anaplastic carcinoma of the thyroid gland"," anaplastic carcinoma of thyroid"," anaplastic carcinoma of thyroid gland"," anaplastic thyroid cancer"," anaplastic thyroid carcinoma"," anaplastic thyroid gland carcinoma"," dedifferentiated thyroid gland carcinoma"," metaplastic thyroid gland carcinoma"," pleomorphic thyroid gland carcinoma"," sarcomatoid thyroid gland carcinoma"," thyroid cancer, anaplastic"," thyroid carcinoma, anaplastic, somatic"," thyroid gland carcinosarcoma"," thyroid gland undifferentiated carcinoma"," undifferentiated (anaplastic) thyroid gland cancer"," undifferentiated (anaplastic) thyroid gland carcinoma"," undifferentiated carcinoma of the thyroid"," undifferentiated carcinoma of the thyroid gland"," undifferentiated carcinoma of thyroid"," undifferentiated carcinoma of thyroid gland"," undifferentiated thyroid carcinoma"," undifferentiated thyroid gland carcinoma"," undifferentiated thyroid tumor"," undifferentiated thyroid tumour"]}