{"Name":"Glucocorticoid-remediable aldosteronism","DiseaseID__c":"GARD:0002790","id":2790,"encodedName":"glucocorticoid-remediable-aldosteronism","IsDeleted":false,"Disease_Name_Full__c":"Glucocorticoid-remediable aldosteronism","Xref_IDs__c":"C3838731; C563177; DOID:14080; E26.02; MEDGEN:824577; MONDO:0007080; OMIM:103900; ORPHA:403","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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0007080","Disease_Description__c":"A rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.","GARD_Name__c":"Glucocorticoid-remediable aldosteronism","GARD_Synonym__c":"acth-dependent hyperaldosteronism syndrome; aldosteronism, glucocorticoid-remediable; aldosteronism, sensitive to dexamethasone; dexamethasone-sensitive hypertension; familial hyperaldosteronism type 1; familial hyperaldosteronism type i; fh i; fh-i; fh1; glucocorticoid-sensitive hypertension; glucocorticoid-suppressible hyperaldosteronism; gra; gra - glucocorticoid-remediable aldosteronism; hyperaldosteronism, familial, type i","Curated_Disease_Description_Source__c":"GARD:0002790","Curated_Disease_Description__c":"Familial hyperaldosteronism type I is one of three types of familial hyperaldosteronism. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is inherited in an autosomal dominant manner. These individuals are also at an increased risk for a certain type of stroke known as a hemorrhagic stroke. First-line therapy consists of a steroid such as prednisone, dexamethasone, or hydrocortisone. This will often correct the overproduction of aldosterone, lower the blood pressure, and correct the potassium levels.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:403","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007080","ORPHANET_ID__c":"ORPHA:403","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperaldosteronismo familiar tipo i","Spanish_Description_Source__c":"ORPHA:403","Spanish_Description__c":"Es una forma hereditaria poco frecuente de aldosteronismo primario (AP) con respuesta al tratamiento con glucocorticoides que se caracteriza por hipertensión de inicio precoz, hiperaldosteronismo, hipopotasemia variable, disminución de la actividad de la renina plasmática (ARP) y producción anómala de 18-oxocortisol y 18-hidroxicortisol.","Spanish_Disease_Name__c":"hiperaldosteronismo familiar tipo i","Spanish_GARD_Synonym__c":"aldosteronismo tratable con glucocorticoides; fh-i; fh1; gra; hiperaldosteronismo familiar tipo 1; hipertensión sensible a glucocorticoides; hipertensión sensible a la dexametasona","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 type I is one of three types of familial hyperaldosteronism. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is inherited in an autosomal dominant manner. These individuals are also at an increased risk for a certain type of stroke known as a hemorrhagic stroke. First-line therapy consists of a steroid such as prednisone, dexamethasone, or hydrocortisone. This will often correct the overproduction of aldosterone, lower the blood pressure, and correct the potassium levels.","Curated_Disease_Description_Source__c":"GARD:0002790","GARD_Synonym__c":"acth-dependent hyperaldosteronism syndrome; aldosteronism, glucocorticoid-remediable; aldosteronism, sensitive to dexamethasone; dexamethasone-sensitive hypertension; familial hyperaldosteronism type 1; familial hyperaldosteronism type i; fh i; fh-i; fh1; glucocorticoid-sensitive hypertension; glucocorticoid-suppressible hyperaldosteronism; gra; gra - glucocorticoid-remediable aldosteronism; hyperaldosteronism, familial, type i","Name":"Glucocorticoid-remediable aldosteronism","estimateUsa":""}],"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":"Adult","Provided_By__c":"ORPHA:403"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:403"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:403"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1260386"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002790","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=824577","Source__c":"C3838731","Xref__c":"MEDGEN:824577"},{"URL__c":"https://www.orpha.net/en/disease/detail/403","Source__c":"C3838731; MONDO:0007080; ORPHA:403","Xref__c":"ORPHA:403"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563177","Source__c":"MONDO:0007080","Xref__c":"C563177"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E26.02","Source__c":"MONDO:0007080","Xref__c":"E26.02"},{"URL__c":"https://www.omim.org/entry/103900","Source__c":"C3838731; MONDO:0007080; ORPHA:403","Xref__c":"OMIM:103900"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3838731","Source__c":"C3838731","Xref__c":"C3838731"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14080","Source__c":"MONDO:0007080","Xref__c":"DOID:14080"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703232003","Source__c":"C3838731","Xref__c":"703232003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007080","Source__c":"GARD:0002790","Xref__c":"MONDO:0007080"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123248","Source__c":"C3838731","Xref__c":"C123248"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C127161","Source__c":"C3838731","Xref__c":"C127161"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CYP11B1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cyp11b1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:403","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; Ringing in the ears","HPO_Name__c":"Tinnitus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:403","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040084","HPO_Synonym__c":"Abnormal circulating renin; Abnormal plasma renin","HPO_Name__c":"Abnormal circulating renin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:403","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Enlargement of the adrenal gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008221","HPO_Synonym__c":"Enlarged adrenal glands","HPO_Name__c":"Adrenal hyperplasia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:403","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011410","HPO_Synonym__c":"Caesarean section","HPO_Name__c":"Caesarean section","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:403","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally decreased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002900","HPO_Synonym__c":"Low blood potassium levels","HPO_Name__c":"Hypokalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:403","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011746","HPO_Synonym__c":"Secretory adrenal adenoma","HPO_Name__c":"Secretory adrenocortical adenoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:403","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:403","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011739","HPO_Name__c":"Dexamethasone-suppressible primary hyperaldosteronism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:403","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sensation of unease in the stomach together with an urge to vomit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002018","HPO_Synonym__c":"Nausea","HPO_Name__c":"Nausea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:403","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:403","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:403","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive thirst manifested by excessive fluid intake.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001959","HPO_Synonym__c":"Extreme thirst","HPO_Name__c":"Polydipsia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:403","HPO_Frequency__c":"Always (100%)","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":"ORPHA:403","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring within the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002170","HPO_Synonym__c":"Bleeding within the skull","HPO_Name__c":"Intracranial hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Endocrine"],"Specialist":["Genetics","Nephrology","Endocrine","Pediatrics"],"Account":["Nephrology"]},"synonyms":["acth-dependent hyperaldosteronism syndrome"," aldosteronism, glucocorticoid-remediable"," aldosteronism, sensitive to dexamethasone"," dexamethasone-sensitive hypertension"," familial hyperaldosteronism type 1"," familial hyperaldosteronism type i"," fh i"," fh-i"," fh1"," glucocorticoid-sensitive hypertension"," glucocorticoid-suppressible hyperaldosteronism"," gra"," gra - glucocorticoid-remediable aldosteronism"," hyperaldosteronism, familial, type i"]}