{"Name":"Congenital isolated adrenocorticotropic hormone deficiency","DiseaseID__c":"GARD:0005727","id":5727,"encodedName":"congenital-isolated-adrenocorticotropic-hormone-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Congenital isolated adrenocorticotropic hormone deficiency","Xref_IDs__c":"237692001; C0342388; C120433; C535668; DOID:0080150; MEDGEN:137968; MONDO:0008720; OMIM:201400; ORPHA:199296","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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008720","Disease_Description__c":"A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.","GARD_Name__c":"Congenital isolated adrenocorticotropic hormone deficiency","GARD_Synonym__c":"acth deficiency; acth deficiency, isolated; adrenocorticotropic hormone (acth) deficiency; adrenocorticotropic hormone deficiency; congenital isolated acth deficiency; congenital isolated adrenocorticotropic hormone deficiency (disease); corticotropin deficiency; secondary hypoadrenalism","Curated_Disease_Description_Source__c":"MONDO:0008720","Curated_Disease_Description__c":"A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:199296","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008720","ORPHANET_ID__c":"ORPHA:199296","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de acth congénita aislada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia de acth congénita aislada","Spanish_GARD_Synonym__c":null,"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 hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.","Curated_Disease_Description_Source__c":"MONDO:0008720","GARD_Synonym__c":"acth deficiency; acth deficiency, isolated; adrenocorticotropic hormone (acth) deficiency; adrenocorticotropic hormone deficiency; congenital isolated acth deficiency; congenital isolated adrenocorticotropic hormone deficiency (disease); corticotropin deficiency; secondary hypoadrenalism","Name":"Congenital isolated adrenocorticotropic hormone deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Raymond A. Wood Foundation","Website__c":"https://www.rawoodfoundation.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":"Neonatal","Provided_By__c":"ORPHA:199296"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0342388"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005727","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/201400","Source__c":"MONDO:0008720; ORPHA:199296","Xref__c":"OMIM:201400"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342388","Source__c":"C0342388","Xref__c":"C0342388"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535668","Source__c":"MONDO:0008720","Xref__c":"C535668"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=137968","Source__c":"C0342388","Xref__c":"MEDGEN:137968"},{"URL__c":"https://www.orpha.net/en/disease/detail/199296","Source__c":"C0342388; MONDO:0008720","Xref__c":"ORPHA:199296"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080150","Source__c":"MONDO:0008720","Xref__c":"DOID:0080150"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237692001","Source__c":"C0342388; MONDO:0008720","Xref__c":"237692001"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011748","Source__c":"C0342388","Xref__c":"HP:0011748"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008720","Source__c":"GARD:0005727","Xref__c":"MONDO:0008720"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C120433","Source__c":"C0342388","Xref__c":"C120433"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TBX19","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:199296","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012115","HPO_Synonym__c":"Liver inflammation","HPO_Name__c":"Hepatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199296","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormally increased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002153","HPO_Synonym__c":"Increased circulating potassium concentration","HPO_Name__c":"Hyperkalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:199296","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Abnormally reduced concentration of cortisol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008163","HPO_Synonym__c":"Decreased cortisol production; Glucocorticoid insufficiency; Hypocortisolemia; Low blood cortisol level; Low to undetectable plasma cortisol; Plasma cortisol low","HPO_Name__c":"Decreased circulating cortisol level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199296","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Low Blood Pressure, vascular hypotension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002615","HPO_Synonym__c":"Arterial hypotension; Low blood pressure","HPO_Name__c":"Hypotension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199296","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199296","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Adrenal insufficiency secondary to a defect in ACTH production.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011735","HPO_Synonym__c":"ACTH deficient adrenal insufficiency","HPO_Name__c":"Adrenocorticotropin deficient adrenal insufficiency","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199296","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the adrenal glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000835","HPO_Synonym__c":"Adrenal gland hypoplasia; Hypoplastic adrenal glands; Small adrenal glands; Underdeveloped adrenal glands","HPO_Name__c":"Adrenal hypoplasia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199296","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001998","HPO_Synonym__c":"Low blood sugar in newborn","HPO_Name__c":"Neonatal hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:199296","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006579","HPO_Synonym__c":"Neonatal jaundice; Prolonged yellowing of skin in newborn","HPO_Name__c":"Prolonged neonatal jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199296","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased sodium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002902","HPO_Synonym__c":"Low blood sodium levels","HPO_Name__c":"Hyponatremia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:199296","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002173","HPO_Name__c":"Hypoglycemic seizures","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"],"Account":["Pituitary deficiency"]},"synonyms":["acth deficiency"," acth deficiency, isolated"," adrenocorticotropic hormone (acth) deficiency"," adrenocorticotropic hormone deficiency"," congenital isolated acth deficiency"," congenital isolated adrenocorticotropic hormone deficiency (disease)"," corticotropin deficiency"," secondary hypoadrenalism"]}