{"Name":"Familial papillary or follicular thyroid carcinoma","DiseaseID__c":"GARD:0008488","id":8488,"encodedName":"familial-papillary-or-follicular-thyroid-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Familial papillary or follicular thyroid carcinoma","Xref_IDs__c":"C118829; C5191836; MEDGEN:1681657; MONDO:0017895; ORPHA:319487","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017895","Disease_Description__c":"A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients.","GARD_Name__c":"Familial papillary or follicular thyroid carcinoma","GARD_Synonym__c":"familial nonmedullary primary thyroid carcinoma; familial nonmedullary thyroid gland carcinoma; familial pure nonmedullary thyroid carcinoma; fnmtc; fnmtc - familial nonmedullary thyroid carcinoma","Curated_Disease_Description_Source__c":"MONDO:0017895","Curated_Disease_Description__c":"A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:319487","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017895","ORPHANET_ID__c":"ORPHA:319487","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Carcinoma papilar o folicular familiar de tiroides","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"carcinoma papilar o folicular familiar de tiroides","Spanish_GARD_Synonym__c":"carcinoma no medular puro familiar de tiroides; fnmtc","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 papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients.","Curated_Disease_Description_Source__c":"MONDO:0017895","GARD_Synonym__c":"familial nonmedullary primary thyroid carcinoma; familial nonmedullary thyroid gland carcinoma; familial pure nonmedullary thyroid carcinoma; fnmtc; fnmtc - familial nonmedullary thyroid carcinoma","Name":"Familial papillary or follicular thyroid carcinoma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"ThyCa: Thyroid Cancer Survivors' Association, Inc.","Website__c":"https://www.thyca.org/"},{"Account_Name__c":"American Thyroid Association","Website__c":"https://www.thyroid.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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:319487"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008488","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/319487","Source__c":"C5191836; MONDO:0017895","Xref__c":"ORPHA:319487"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1681657","Source__c":"C5191836","Xref__c":"MEDGEN:1681657"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5191836","Source__c":"C5191836","Xref__c":"C5191836"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C118829","Source__c":"C5191836; MONDO:0017895","Xref__c":"C118829"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017895","Source__c":"GARD:0008488","Xref__c":"MONDO:0017895"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=786038001","Source__c":"C5191836","Xref__c":"786038001"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HABP2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FOXE1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:319487","HPO_Frequency__c":"Frequent (30-79%)","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:319487","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an follicular adenocarcinoma of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006731","HPO_Name__c":"Follicular thyroid carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319487","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of renal cell carcinoma in the renal papilla.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006766","HPO_Name__c":"Papillary renal cell carcinoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319487","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006528","HPO_Synonym__c":"Chronic lung disease","HPO_Name__c":"Chronic lung disease","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319487","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:3000037","HPO_Synonym__c":"Abnormality of blood vessel of neck; Abnormality of neck blood vessel; Abnormality of the cervical blood vessels; Abnormality of the cervical vasculature; Abnormality of the vasculature of the neck","HPO_Name__c":"Abnormal neck blood vessel morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319487","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural lymph node abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002733","HPO_Synonym__c":"Abnormal lymph node histology; Abnormality of the lymph nodes","HPO_Name__c":"Abnormal lymph node morphology","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319487","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A chronic form of lymphadenopathy that is not related to infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002730","HPO_Name__c":"Chronic noninfectious lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319487","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012288","HPO_Synonym__c":"Head and neck tumor","HPO_Name__c":"Neoplasm of head and neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319487","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:319487","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a papillary adenocarcinoma of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002895","HPO_Synonym__c":"Papillary carcinoma of thyroid; Thyroid papillary carcinoma","HPO_Name__c":"Papillary thyroid carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319487","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"External mechanical compression of the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002176","HPO_Synonym__c":"Pressure on spinal cord","HPO_Name__c":"Spinal cord compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319487","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003003","HPO_Synonym__c":"Colon cancer","HPO_Name__c":"Colon cancer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319487","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002757","HPO_Synonym__c":"Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures","HPO_Name__c":"Recurrent fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319487","HPO_Frequency__c":"Occasional (5-29%)","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:319487","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 bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Endocrine"],"Disease Category":["Cancer","Genetics","Endocrine"],"Cause":["Genetics"]},"synonyms":["familial nonmedullary primary thyroid carcinoma"," familial nonmedullary thyroid gland carcinoma"," familial pure nonmedullary thyroid carcinoma"," fnmtc"," fnmtc - familial nonmedullary thyroid carcinoma"]}