{"Name":"Non-acquired combined pituitary hormone deficiency","DiseaseID__c":"GARD:0002252","id":2252,"encodedName":"non-acquired-combined-pituitary-hormone-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Non-acquired combined pituitary hormone deficiency","Xref_IDs__c":"C5680091; MEDGEN:1842250; MONDO:0018762; ORPHA:467","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","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:0018762","Disease_Description__c":"Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.","GARD_Name__c":"Non-acquired combined pituitary hormone deficiency","GARD_Synonym__c":"congenital combined pituitary hormone deficiency; congenital hypopituitarism","Curated_Disease_Description_Source__c":"MEDGEN:C2751608","Curated_Disease_Description__c":"Non-acquired combined pituitary hormone deficiency is considered a group of genetic disorders. It is also considered an endocrine disorder, meaning it affects the chemical messenger system of the body, which controls hormones. This condition can be caused by mutations in the PROP1, POU1F1, HESX1, LHX3, or LHX4 genes. Symptoms can begin at any time in a person's life. This condition can impact the development and function of the pituitary gland, which can cause deficiencies in a variety of different hormones. These deficiencies may occur in the hormones that affect growth, metabolism, breastmilk production and sexual function, stress response, and the reproductive system. This condition can cause cognitive differences, affecting a person's thinking. People with this condition may have delayed puberty. This condition is inherited, meaning it can be passed from parent to child. Whether the disordered gene is passed from one parent or both depends on which gene is affected.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:467","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018762","ORPHANET_ID__c":"ORPHA:467","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia combinada no adquirida de hormonas hipofisarias","Spanish_Description_Source__c":"ORPHA:467","Spanish_Description__c":"El hipopituitarismo congénito se caracteriza por déficit múltiple de hormonas pituitarias, incluyendo déficit de somatotropina, tirotropina, lactotropina, corticotropina o gonadotropina, debido a mutaciones de factores de transcripción pituitarios implicados en la ontogénesis pituitaria.","Spanish_Disease_Name__c":"deficiencia combinada no adquirida de hormonas hipofisarias","Spanish_GARD_Synonym__c":"deficiencia combinada congénita de hormonas hipofisarias","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":"Non-acquired combined pituitary hormone deficiency is considered a group of genetic disorders. It is also considered an endocrine disorder, meaning it affects the chemical messenger system of the body, which controls hormones. This condition can be caused by mutations in the PROP1, POU1F1, HESX1, LHX3, or LHX4 genes. Symptoms can begin at any time in a person's life. This condition can impact the development and function of the pituitary gland, which can cause deficiencies in a variety of different hormones. These deficiencies may occur in the hormones that affect growth, metabolism, breastmilk production and sexual function, stress response, and the reproductive system. This condition can cause cognitive differences, affecting a person's thinking. People with this condition may have delayed puberty. This condition is inherited, meaning it can be passed from parent to child. Whether the disordered gene is passed from one parent or both depends on which gene is affected.","Curated_Disease_Description_Source__c":"MEDGEN:C2751608","GARD_Synonym__c":"congenital combined pituitary hormone deficiency; congenital hypopituitarism","Name":"Non-acquired combined pituitary hormone deficiency","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pituitary Network Association","Website__c":"https://pituitary.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":"Pituitary deficiency","Tag_Category__c":"Account","curated_tag_name":"Pituitary deficiencies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:467"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2751608"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680091","Source__c":"C5680091","Xref__c":"C5680091"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1842250","Source__c":"C5680091","Xref__c":"MEDGEN:1842250"},{"URL__c":"https://www.orpha.net/en/disease/detail/467","Source__c":"C5680091; MONDO:0018762; ORPHA:467","Xref__c":"ORPHA:467"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018762","Source__c":"GARD:0002252","Xref__c":"MONDO:0018762"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"],"Account":["Pituitary deficiency"]},"synonyms":["congenital combined pituitary hormone deficiency"," congenital hypopituitarism"]}