{"Name":"Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha","DiseaseID__c":"GARD:0022275","id":22275,"encodedName":"resistance-to-thyroid-hormone-due-to-a-mutation-in-thyroid-hormone-receptor-alpha","IsDeleted":false,"Disease_Name_Full__c":"Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha","Xref_IDs__c":"C5680127; MEDGEN:1830097; MONDO:0034216; ORPHA:566231","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:566231","Disease_Description__c":"A rare primary congenital hypothyroidism characterized by a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone, and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, and delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue, and thick lips, have also been reported. Some patients may show only minimal signs and symptoms.","GARD_Name__c":"Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha","GARD_Synonym__c":"resistance to thyroid hormone alpha; resistance to thyroid hormone due to a mutation in tra; resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha; resistance to thyroid hormone due to mutation in tra; rtha","Curated_Disease_Description_Source__c":"ORPHA:566231","Curated_Disease_Description__c":"A rare primary congenital hypothyroidism characterized by a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone, and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, and delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue, and thick lips, have also been reported. Some patients may show only minimal signs and symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:566231","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0034216","ORPHANET_ID__c":"ORPHA:566231","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Resistencia a la hormona tiroidea por una mutación en el receptor alfa de hormona tiroidea","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"resistencia a la hormona tiroidea por una mutación en el receptor alfa de hormona tiroidea","Spanish_GARD_Synonym__c":"resistencia a la hormona tiroidea por una mutación en tra; rtha","Category_Linearization__c":"ORPHA:97978","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 rare primary congenital hypothyroidism characterized by a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone, and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, and delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue, and thick lips, have also been reported. Some patients may show only minimal signs and symptoms.","Curated_Disease_Description_Source__c":"ORPHA:566231","GARD_Synonym__c":"resistance to thyroid hormone alpha; resistance to thyroid hormone due to a mutation in tra; resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha; resistance to thyroid hormone due to mutation in tra; rtha","Name":"Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alph","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"British Thyroid Foundation","Website__c":"https://www.btf-thyroid.org/"}],"GARD_Disease_Tag__c":[{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:566231"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680127","Source__c":"C5680127","Xref__c":"C5680127"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1830097","Source__c":"C5680127","Xref__c":"MEDGEN:1830097"},{"URL__c":"https://www.orpha.net/en/disease/detail/566231","Source__c":"C5680127; MONDO:0034216; ORPHA:566231","Xref__c":"ORPHA:566231"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0034216","Source__c":"GARD:0022275","Xref__c":"MONDO:0034216"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1260240000","Source__c":"C5680127","Xref__c":"1260240000"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"THRA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["resistance to thyroid hormone alpha"," resistance to thyroid hormone due to a mutation in tra"," resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha"," resistance to thyroid hormone due to mutation in tra"," rtha"]}