{"Name":"Familial pseudohyperkalemia","DiseaseID__c":"GARD:0016785","id":16785,"encodedName":"familial-pseudohyperkalemia","IsDeleted":false,"Disease_Name_Full__c":"Familial pseudohyperkalemia","Xref_IDs__c":"717254007; C1836705; C563785; MEDGEN:324588; MONDO:0012204; OMIM:609153; ORPHA:90044","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012204","Disease_Description__c":"Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high <i>in vitro</i> potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.","GARD_Name__c":"Familial pseudohyperkalemia","GARD_Synonym__c":"cryohydrocytosis, mild; pseudohyperkalemia chiswick; pseudohyperkalemia east london; pseudohyperkalemia falkirk; pseudohyperkalemia lille; pseudohyperkalemia, familial, 2, due to red cell leak; pshk2","Curated_Disease_Description_Source__c":"ORPHA:90044","Curated_Disease_Description__c":"Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.","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:90044","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012204","ORPHANET_ID__c":"ORPHA:90044","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pseudohiperpotasemia familiar","Spanish_Description_Source__c":"ORPHA:90044","Spanish_Description__c":"Es un subtipo leve y sin hemólisis de estomatocitosis hereditaria que se asocia a un aumento de la permeabilidad de la membrana eritrocitaria al potasio, a baja temperatura, y que conduce a un aumento del potasio plasmático <i>in vitro</i> de las muestras de sangre conservadas a temperatura inferior a 37°C. La enfermedad no presenta anomalías hematológicas adicionales, aunque en algunos individuos se observa macrocitosis.","Spanish_Disease_Name__c":"pseudohiperpotasemia familiar","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97992","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 pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.","Curated_Disease_Description_Source__c":"ORPHA:90044","GARD_Synonym__c":"cryohydrocytosis, mild; pseudohyperkalemia chiswick; pseudohyperkalemia east london; pseudohyperkalemia falkirk; pseudohyperkalemia lille; pseudohyperkalemia, familial, 2, due to red cell leak; pshk2","Name":"Familial pseudohyperkalemia","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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:90044"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=324588","Source__c":"C1836705","Xref__c":"MEDGEN:324588"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717254007","Source__c":"MONDO:0012204","Xref__c":"717254007"},{"URL__c":"https://www.omim.org/entry/609153","Source__c":"C1836705; MONDO:0012204; ORPHA:90044","Xref__c":"OMIM:609153"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836705","Source__c":"C1836705","Xref__c":"C1836705"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563785","Source__c":"MONDO:0012204","Xref__c":"C563785"},{"URL__c":"https://www.orpha.net/en/disease/detail/90044","Source__c":"C1836705; MONDO:0012204","Xref__c":"ORPHA:90044"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012204","Source__c":"GARD:0016785","Xref__c":"MONDO:0012204"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ABCB6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90044","HPO_Frequency__c":"Frequent (30-79%)","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:90044","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A form of hemolytic anemia that occurs in repeated episodes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004802","HPO_Synonym__c":"Episodic hemolysis","HPO_Name__c":"Episodic hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90044","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Larger than normal size of erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005518","HPO_Synonym__c":"Erythrocyte macrocytosis; Increased MCV","HPO_Name__c":"Increased mean corpuscular volume","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90044","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004446","HPO_Synonym__c":"erythrocyte stomatocytes; Red cell stomatocytosis","HPO_Name__c":"Stomatocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90044","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001923","HPO_Synonym__c":"Increased immature red blood cells; Increased number of immature red blood cells; Increased reticulocyte count; Increased reticulocytes","HPO_Name__c":"Reticulocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90044","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["cryohydrocytosis, mild"," pseudohyperkalemia chiswick"," pseudohyperkalemia east london"," pseudohyperkalemia falkirk"," pseudohyperkalemia lille"," pseudohyperkalemia, familial, 2, due to red cell leak"," pshk2"]}