{"Name":"Pseudohyperaldosteronism type 2","DiseaseID__c":"GARD:0019093","id":19093,"encodedName":"pseudohyperaldosteronism-type-2","IsDeleted":false,"Disease_Name_Full__c":"Pseudohyperaldosteronism type 2","Xref_IDs__c":"766937004; C1854631; C565359; MEDGEN:343170; MONDO:0011517; OMIM:605115; ORPHA:88660","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":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":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011517","Disease_Description__c":"A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.","GARD_Name__c":"Pseudohyperaldosteronism type 2","GARD_Synonym__c":"early-onset hypertension with exacerbation in pregnancy; hypertension due to gain-of-function mutations in the mineralocorticoid receptor; hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy","Curated_Disease_Description_Source__c":"ORPHA:88660","Curated_Disease_Description__c":"Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:88660","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011517","ORPHANET_ID__c":"ORPHA:88660","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipertension por mutaciones con ganancia de función del receptor mineralocorticoide","Spanish_Description_Source__c":"ORPHA:88660","Spanish_Description__c":"Es una causa genética poco frecuente de hipertensión caracterizada por hipertensión grave de inicio precoz refractaria al tratamiento debido a una mutación de ganancia de función en el receptor de mineralocorticoides. La afección se asocia con una actividad de renina plasmática suprimida y niveles bajos de aldosterona sérica y se exacerba notablemente durante el embarazo.","Spanish_Disease_Name__c":"hipertension por mutaciones con ganancia de función del receptor mineralocorticoide","Spanish_GARD_Synonym__c":"hipertensión de inicio precoz con exacerbación durante el embarazo; pseudohiperaldosteronismo tipo 2","Category_Linearization__c":"ORPHA:93626","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":"Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.","Curated_Disease_Description_Source__c":"ORPHA:88660","GARD_Synonym__c":"early-onset hypertension with exacerbation in pregnancy; hypertension due to gain-of-function mutations in the mineralocorticoid receptor; hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy","Name":"Pseudohyperaldosteronism type 2","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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pregnancy-Related Diseases","Tag_Category__c":"Specialist","curated_tag_name":"Pregnancy-related diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=343170","Source__c":"C1854631","Xref__c":"MEDGEN:343170"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1854631","Source__c":"C1854631","Xref__c":"C1854631"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565359","Source__c":"MONDO:0011517","Xref__c":"C565359"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766937004","Source__c":"MONDO:0011517","Xref__c":"766937004"},{"URL__c":"https://www.orpha.net/en/disease/detail/88660","Source__c":"C1854631; MONDO:0011517","Xref__c":"ORPHA:88660"},{"URL__c":"https://www.omim.org/entry/605115","Source__c":"C1854631; MONDO:0011517","Xref__c":"OMIM:605115"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011517","Source__c":"GARD:0019093","Xref__c":"MONDO:0011517"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NR3C2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nr3c2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:605115","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605115","Feature__r":{"HPO_Description__c":"Abnormally reduced levels of aldosterone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004319","HPO_Synonym__c":"Decreased aldosterone; Decreased aldosterone production; Decreased serum aldosterone; Hypoaldosteronism; Low blood aldosterone level; Mineralocorticoid insufficiency","HPO_Name__c":"Decreased circulating aldosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605115","Feature__r":{"HPO_Description__c":"An decreased level of renin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003351","HPO_Synonym__c":"Decreased circulating renin level; Decreased plasma renin activity; Low plasma renin activity; Suppressed plasma renin activity","HPO_Name__c":"Decreased circulating renin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Urogenital Disorders"],"Specialist":["Genetics","Nephrology","Obstetrics / Gynecology","Pregnancy-Related Diseases"],"Account":["Nephrology"]},"synonyms":["early-onset hypertension with exacerbation in pregnancy"," hypertension due to gain-of-function mutations in the mineralocorticoid receptor"," hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy"]}