{"Name":"Pseudohypoaldosteronism, type 2","DiseaseID__c":"GARD:0004553","id":4553,"encodedName":"pseudohypoaldosteronism-type-2","IsDeleted":false,"Disease_Name_Full__c":"Pseudohypoaldosteronism, type 2","Xref_IDs__c":"15689008; C123252; C1449844; MEDGEN:259599; MONDO:0019162; NBK65707; OMIMPS:145260; ORPHA:757","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019162","Disease_Description__c":"A rare genetic form of hypertension characterized by hyperkalemia, mild hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, with normal renal glomerular filtration rate (GFR).","GARD_Name__c":"Pseudohypoaldosteronism, type 2","GARD_Synonym__c":"chloride shunt syndrome; familial hyperkalemic hypertension; gordon hyperkalemia-hypertension syndrome; hyperkalemia-hypertension syndrome, gordon type; hypertensive hyperkalemia; mineralocorticoid resistant hyperkalemia; pha2; phaii; pseudohypoaldosteronism type 2; pseudohypoaldosteronism, type ii; spitzer-weinstein syndrome","Curated_Disease_Description_Source__c":"GARD:0004553","Curated_Disease_Description__c":"Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation of the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys. People with PHA2 have high blood pressure (hypertension) and high levels of potassium in their blood (hyperkalemia) despite having normal kidney function. The age of onset of PHA2 is variable and difficult to pinpoint; some affected individuals are diagnosed in infancy or childhood, and others are diagnosed in adulthood. Hyperkalemia usually occurs first, and hypertension develops later in life. Affected individuals also have high levels of chloride (hyperchloremia) and acid (metabolic acidosis) in their blood (together, referred to as hyperchloremic metabolic acidosis). People with hyperkalemia, hyperchloremia, and metabolic acidosis can have nonspecific symptoms like nausea, vomiting, extreme tiredness (fatigue), and muscle weakness. People with PHA2 may also have high levels of calcium in their urine (hypercalciuria).","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:757","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019162","ORPHANET_ID__c":"ORPHA:757","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pseudohipoaldosteronismo tipo 2","Spanish_Description_Source__c":"ORPHA:757","Spanish_Description__c":"Es una forma genética y poco frecuente de hipertensión caracterizada por hiperpotasemia, leve acidosis metabólica hiperclorémica, aldosterona normal o elevada y baja renina, con una tasa normal de filtración glomerular renal (TFG).","Spanish_Disease_Name__c":"pseudohipoaldosteronismo tipo 2","Spanish_GARD_Synonym__c":"hiperpotasemia hipertensiva; hiperpotasemia resistente a mineralocorticoides; hiperpotasemia-hipertensión tipo gordon; hipertensión hiperpotasémica familiar; pha2; phaii; síndrome de hiperpotasemia-hipertensión de gordon; síndrome de spitzer-weinstein; síndrome del 'shunt' de cloro","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":"Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation of the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys. People with PHA2 have high blood pressure (hypertension) and high levels of potassium in their blood (hyperkalemia) despite having normal kidney function. The age of onset of PHA2 is variable and difficult to pinpoint; some affected individuals are diagnosed in infancy or childhood, and others are diagnosed in adulthood. Hyperkalemia usually occurs first, and hypertension develops later in life. Affected individuals also have high levels of chloride (hyperchloremia) and acid (metabolic acidosis) in their blood (together, referred to as hyperchloremic metabolic acidosis). People with hyperkalemia, hyperchloremia, and metabolic acidosis can have nonspecific symptoms like nausea, vomiting, extreme tiredness (fatigue), and muscle weakness. People with PHA2 may also have high levels of calcium in their urine (hypercalciuria).","Curated_Disease_Description_Source__c":"GARD:0004553","GARD_Synonym__c":"chloride shunt syndrome; familial hyperkalemic hypertension; gordon hyperkalemia-hypertension syndrome; hyperkalemia-hypertension syndrome, gordon type; hypertensive hyperkalemia; mineralocorticoid resistant hyperkalemia; pha2; phaii; pseudohypoaldosteronism type 2; pseudohypoaldosteronism, type ii; spitzer-weinstein syndrome","Name":"Pseudohypoaldosteronism, type 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:757"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1449844"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK65707","Source__c":"Gene Review","Xref__c":"NBK65707"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS145260","Source__c":"MONDO:0019162","Xref__c":"OMIMPS:145260"},{"URL__c":"https://www.orpha.net/en/disease/detail/757","Source__c":"C1449844; MONDO:0019162; ORPHA:757","Xref__c":"ORPHA:757"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=15689008","Source__c":"C1449844; MONDO:0019162","Xref__c":"15689008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=259599","Source__c":"C1449844","Xref__c":"MEDGEN:259599"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123252","Source__c":"C1449844; MONDO:0019162","Xref__c":"C123252"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1449844","Source__c":"C1449844","Xref__c":"C1449844"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019162","Source__c":"GARD:0004553","Xref__c":"MONDO:0019162"},{"URL__c":"https://medlineplus.gov/genetics/condition/pseudohypoaldosteronism-type-2","Source__c":"GARD:0004553","Xref__c":"https://medlineplus.gov/genetics/condition/pseudohypoaldosteronism-type-2"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:757","HPO_Frequency__c":"Very frequent (80-99%)","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:757","HPO_Frequency__c":"Very frequent (80-99%)","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:757","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Episodes of muscle weakness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003768","HPO_Synonym__c":"Episodic paralysis","HPO_Name__c":"Periodic paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:757","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:757","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:757","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:757","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:757","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000682","HPO_Synonym__c":"Abnormal tooth enamel; Abnormality of dental enamel; Enamel abnormalities; Enamel abnormality","HPO_Name__c":"Abnormal dental enamel morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:757","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["chloride shunt syndrome"," familial hyperkalemic hypertension"," gordon hyperkalemia-hypertension syndrome"," hyperkalemia-hypertension syndrome, gordon type"," hypertensive hyperkalemia"," mineralocorticoid resistant hyperkalemia"," pha2"," phaii"," pseudohypoaldosteronism type 2"," pseudohypoaldosteronism, type ii"," spitzer-weinstein syndrome"]}