{"Name":"Familial hyperaldosteronism type III","DiseaseID__c":"GARD:0012362","id":12362,"encodedName":"familial-hyperaldosteronism-type-iii","IsDeleted":false,"Disease_Name_Full__c":"Familial hyperaldosteronism type III","Xref_IDs__c":"703234002; C127163; C3838758; MEDGEN:824604; MONDO:0013359; OMIM:613677; ORPHA:251274","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0013359","Disease_Description__c":"A rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non- glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.","GARD_Name__c":"Familial hyperaldosteronism type III","GARD_Synonym__c":"familial hyperaldosteronism type 3; fh iii; fh-iii; fh3","Curated_Disease_Description_Source__c":"MONDO:0013359","Curated_Disease_Description__c":"A rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non- glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:251274","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013359","ORPHANET_ID__c":"ORPHA:251274","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperaldosteronismo familiar tipo iii","Spanish_Description_Source__c":"ORPHA:251274","Spanish_Description__c":"Es una forma hereditaria y poco frecuente de aldosteronismo primario (AP) caracterizada por hipertensión grave de inicio precoz, hiperaldosteronismo sin respuesta con glucocorticoides, sobreproducción de 18-oxocortisol y 18-hidroxicortisol e hipopotasemia profunda.","Spanish_Disease_Name__c":"hiperaldosteronismo familiar tipo iii","Spanish_GARD_Synonym__c":"fh-iii; fh3; hiperaldosteronismo familiar tipo 3","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 heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non- glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.","Curated_Disease_Description_Source__c":"MONDO:0013359","GARD_Synonym__c":"familial hyperaldosteronism type 3; fh iii; fh-iii; fh3","Name":"Familial hyperaldosteronism type III","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Primary Aldosteronism Foundation","Website__c":"https://www.primaryaldosteronism.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":"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":"Adolescent","Provided_By__c":"ORPHA:251274"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:251274"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:251274"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3150933"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012362","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=824604","Source__c":"C3838758","Xref__c":"MEDGEN:824604"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703234002","Source__c":"C3838758; MONDO:0013359","Xref__c":"703234002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3838758","Source__c":"C3838758","Xref__c":"C3838758"},{"URL__c":"https://www.omim.org/entry/613677","Source__c":"C3838758; MONDO:0013359; ORPHA:251274","Xref__c":"OMIM:613677"},{"URL__c":"https://www.orpha.net/en/disease/detail/251274","Source__c":"C3838758; MONDO:0013359; ORPHA:251274","Xref__c":"ORPHA:251274"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C127163","Source__c":"C3838758","Xref__c":"C127163"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013359","Source__c":"GARD:0012362","Xref__c":"MONDO:0013359"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KCNJ5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnj5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:251274","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000421","HPO_Synonym__c":"Bloody nose; Frequent nosebleeds; Nasal hemorrhage; Nose bleed; Nose bleeding; Nosebleed","HPO_Name__c":"Epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251274","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011740","HPO_Name__c":"Glucocortocoid-insensitive primary hyperaldosteronism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251274","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000360","HPO_Synonym__c":"Ringing in ears; 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