{"Name":"Thyroid cancer, nonmedullary, 2","DiseaseID__c":"GARD:0005206","id":5206,"encodedName":"thyroid-cancer-nonmedullary-2","IsDeleted":false,"Disease_Name_Full__c":"Thyroid cancer, nonmedullary, 2","Xref_IDs__c":"C4225426; C572845; MEDGEN:904175; MONDO:0008566; OMIM:188470","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:188470","Disease_Description__c":"Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; {155240}). NMTC is classified into 4 groups: papillary, follicular, Hurthle cell ({607464}), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis, {175100}, Carney complex, {160980}) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by {3:Vriens et al., 2009}).\\n\\nFollicular thyroid cancer (FTC) accounts for approximately 15% of NMTC and is defined by invasive features that result in infiltration of blood vessels and/or full penetration of the tumor capsule, in the absence of the nuclear alterations that characterize papillary carcinoma. FTC is rarely multifocal and usually does not metastasize to the regional lymph nodes but tends to spread via the bloodstream to the lung and bones. An important histologic variant of FTC is the oncocytic (Hurthle cell, oxyphilic) follicular carcinoma composed of eosinophilic cells replete with mitochondria (summary by {1:Bonora et al., 2010}).\\n\\nFor a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 ({188550}).","GARD_Name__c":"Thyroid cancer, nonmedullary, 2","GARD_Synonym__c":"nmtc2; thyroid cancer, nonmedullary, 2, autosomal dominant, somatic mutation; thyroid cancer, nonmedullary, 2, susceptibility to; thyroid cancer, nonmedullary, type 2; thyroid carcinoma, follicular; thyroid carcinoma, follicular, autosomal dominant, somatic mutation; thyroid carcinoma, follicular, somatic","Curated_Disease_Description_Source__c":"OMIM:188470","Curated_Disease_Description__c":"Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. NMTC is classified into 4 groups: papillary, follicular, Hurthle cell, and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis, Carney complex, or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases. Follicular thyroid cancer (FTC) accounts for approximately 15% of NMTC and is defined by invasive features that result in infiltration of blood vessels and/or full penetration of the tumor capsule, in the absence of the nuclear alterations that characterize papillary carcinoma. FTC is rarely multifocal and usually does not metastasize to the regional lymph nodes but tends to spread via the bloodstream to the lung and bones. An important histologic variant of FTC is the oncocytic (Hurthle cell, oxyphilic) follicular carcinoma composed of eosinophilic cells replete with mitochondria. Susceptibility to nonmedullary thyroid cancer 2 (NMTC2) is conferred by heterozygous mutation in the SRGAP1 gene. NMTC2 follows an autosomal dominant pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:188470","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008566","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. NMTC is classified into 4 groups: papillary, follicular, Hurthle cell, and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis, Carney complex, or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases. Follicular thyroid cancer (FTC) accounts for approximately 15% of NMTC and is defined by invasive features that result in infiltration of blood vessels and/or full penetration of the tumor capsule, in the absence of the nuclear alterations that characterize papillary carcinoma. FTC is rarely multifocal and usually does not metastasize to the regional lymph nodes but tends to spread via the bloodstream to the lung and bones. An important histologic variant of FTC is the oncocytic (Hurthle cell, oxyphilic) follicular carcinoma composed of eosinophilic cells replete with mitochondria. Susceptibility to nonmedullary thyroid cancer 2 (NMTC2) is conferred by heterozygous mutation in the SRGAP1 gene. NMTC2 follows an autosomal dominant pattern of inheritance.","Curated_Disease_Description_Source__c":"OMIM:188470","GARD_Synonym__c":"nmtc2; thyroid cancer, nonmedullary, 2, autosomal dominant, somatic mutation; thyroid cancer, nonmedullary, 2, susceptibility to; thyroid cancer, nonmedullary, type 2; thyroid carcinoma, follicular; thyroid carcinoma, follicular, autosomal dominant, somatic mutation; thyroid carcinoma, follicular, somatic","Name":"Thyroid cancer, nonmedullary, 2","estimateUsa":""}],"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","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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005206","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=904175","Source__c":"C4225426","Xref__c":"MEDGEN:904175"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C572845","Source__c":"MONDO:0008566","Xref__c":"C572845"},{"URL__c":"https://www.omim.org/entry/188470","Source__c":"C4225426; MONDO:0008566","Xref__c":"OMIM:188470"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225426","Source__c":"C4225426","Xref__c":"C4225426"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008566","Source__c":"GARD:0005206","Xref__c":"MONDO:0008566"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NRAS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nras","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HRAS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hras","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SRGAP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MINPP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:188470","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":"OMIM:188470","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040198","HPO_Synonym__c":"Nonmedullary thyroid carcinoma; Thyroid cancer, nonmedullary","HPO_Name__c":"Non-medullary thyroid carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:188470","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"}}],"tags":{"Disease Category":["Cancer"]},"synonyms":["nmtc2"," thyroid cancer, nonmedullary, 2, autosomal dominant, somatic mutation"," thyroid cancer, nonmedullary, 2, susceptibility to"," thyroid cancer, nonmedullary, type 2"," thyroid carcinoma, follicular"," thyroid carcinoma, follicular, autosomal dominant, somatic mutation"," thyroid carcinoma, follicular, somatic"]}