{"Name":"Familial hyperaldosteronism","DiseaseID__c":"GARD:0020630","id":20630,"encodedName":"familial-hyperaldosteronism","IsDeleted":false,"Disease_Name_Full__c":"Familial hyperaldosteronism","Xref_IDs__c":"703231005; C127160; C3713420; C580087; MEDGEN:780028; MONDO:0016525; OMIMPS:103900; ORPHA:235936","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016525","Disease_Description__c":"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.","GARD_Name__c":"Familial hyperaldosteronism","GARD_Synonym__c":"fh; genetic hyperaldosteronism; hereditary hyperaldosteronism","Curated_Disease_Description_Source__c":"MONDO:0016525","Curated_Disease_Description__c":"Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure. Familial hyperaldosteronism is categorized into three types, distinguished by their clinical features and genetic causes. In familial hyperaldosteronism type I, hypertension generally appears in childhood to early adulthood and can range from mild to severe. This type can be treated with steroid medications called glucocorticoids, so it is also known as glucocorticoid-remediable aldosteronism (GRA). In familial hyperaldosteronism type II, hypertension usually appears in early to middle adulthood and does not improve with glucocorticoid treatment. In most individuals with familial hyperaldosteronism type III, the adrenal glands are enlarged up to six times their normal size. These affected individuals have severe hypertension that starts in childhood. The hypertension is difficult to treat and often results in damage to organs such as the heart and kidneys. Rarely, individuals with type III have milder symptoms with treatable hypertension and no adrenal gland enlargement. There are other forms of hyperaldosteronism that are not familial. These conditions are caused by various problems in the adrenal glands or kidneys. In some cases, a cause for the increase in aldosterone levels cannot be found.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:235936","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016525","ORPHANET_ID__c":"ORPHA:235936; ORPHA:371861","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperaldosteronismo familiar","Spanish_Description_Source__c":"ORPHA:235936","Spanish_Description__c":"El hiperaldosteronismo familiar (HAF) es la forma hereditaria de aldosteronismo primario (AP) que comprende tres subtipos identificados hasta la fecha: HAF tipo I, caracterizado por hipertensión de aparición temprana, hormona adrenocorticotrópica remediable con glucocorticoides (ACTH)- hiperaldosteronismo dependiente, hipopotasemia variable y sobreproducción de 18-oxocortisol y 18-hidroxicortisol; HAF tipo II, caracterizado por hipertensión de gravedad variable e hiperaldosteronismo no suprimible con dexametasona; y HAF tipo III caracterizado por hipopotasemia profunda, hipertensión grave de aparición temprana, hiperaldosteronismo no remediable con glucocorticoides y sobreproducción de 18-oxocortisol y 18-hidroxicortisol.","Spanish_Disease_Name__c":"hiperaldosteronismo familiar","Spanish_GARD_Synonym__c":"fh","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":"Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure. Familial hyperaldosteronism is categorized into three types, distinguished by their clinical features and genetic causes. In familial hyperaldosteronism type I, hypertension generally appears in childhood to early adulthood and can range from mild to severe. This type can be treated with steroid medications called glucocorticoids, so it is also known as glucocorticoid-remediable aldosteronism (GRA). In familial hyperaldosteronism type II, hypertension usually appears in early to middle adulthood and does not improve with glucocorticoid treatment. In most individuals with familial hyperaldosteronism type III, the adrenal glands are enlarged up to six times their normal size. These affected individuals have severe hypertension that starts in childhood. The hypertension is difficult to treat and often results in damage to organs such as the heart and kidneys. Rarely, individuals with type III have milder symptoms with treatable hypertension and no adrenal gland enlargement. There are other forms of hyperaldosteronism that are not familial. These conditions are caused by various problems in the adrenal glands or kidneys. In some cases, a cause for the increase in aldosterone levels cannot be found.","Curated_Disease_Description_Source__c":"MONDO:0016525","GARD_Synonym__c":"fh; genetic hyperaldosteronism; hereditary hyperaldosteronism","Name":"Familial hyperaldosteronism","estimateUsa":""}],"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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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:235936"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3713420","Source__c":"C3713420","Xref__c":"C3713420"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=780028","Source__c":"C3713420","Xref__c":"MEDGEN:780028"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703231005","Source__c":"C3713420; MONDO:0016525","Xref__c":"703231005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C580087","Source__c":"MONDO:0016525","Xref__c":"C580087"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C127160","Source__c":"C3713420; MONDO:0016525","Xref__c":"C127160"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS103900","Source__c":"MONDO:0016525","Xref__c":"OMIMPS:103900"},{"URL__c":"https://www.orpha.net/en/disease/detail/235936","Source__c":"C3713420; MONDO:0016525; ORPHA:235936","Xref__c":"ORPHA:235936"},{"URL__c":"https://medlineplus.gov/genetics/condition/familial-hyperaldosteronism","Source__c":"GARD:0020630","Xref__c":"https://medlineplus.gov/genetics/condition/familial-hyperaldosteronism"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016525","Source__c":"GARD:0020630","Xref__c":"MONDO:0016525"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Endocrine"],"Specialist":["Genetics","Nephrology","Endocrine","Pediatrics"],"Account":["Nephrology"]},"synonyms":["fh"," genetic hyperaldosteronism"," hereditary hyperaldosteronism"]}