{"orpha":90044,"name":"Familial pseudohyperkalemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90044/","orphanet_url":"https://www.orpha.net/en/disease/detail/90044","names":{"fr":{"name":"Pseudohyperkaliémie familiale","definition":"Sous-type héréditaire, léger et non hémolytique de stomatocytose héréditaire, associé à une anomalie de la perméabilité de la membrane des globules rouges au potassium en lien avec la température, entraînant des taux élevés de potassium <i>in vitro</i> dans les échantillons conservés à une température inférieure à 37&nbsp;°C. La pseudohyperkaliémie familiale (PF) n'est pas associée à d'autres anomalies hématologiques, bien que de légères anomalies, à type de macrocytose, puissent s'observer chez les personnes atteintes."},"de":{"name":"Pseudohyperkaliämie, familiäre","definition":"Die familiäre Pseudohyperkaliämie (FP) ist eine vererbte, milde, nicht hämolytische Unterform der hereditären Stomatozytose, die mit einer temperaturabhängigen Anomalie in der Permeabilität der Erythrozytenmembran für Kalium einhergeht, die zu hohen <i>in vitro</i> Kaliumspiegeln in Proben führt, die unter 37&#8451; gelagert werden. FP ist nicht mit zusätzlichen hämatologischen Anomalien assoziiert, obwohl betroffene Individuen einige milde Anomalien wie Makrozytose zeigen können."},"es":{"name":"Pseudohiperpotasemia familiar","definition":"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."},"it":{"name":"Pseudoiperkaliemia familiare","definition":"La pseudoiperkaliemia familiare (FP) è un sottotipo ereditario, lieve e non emolitico di stomatocitosi ereditaria, associato ad un'anomalia correlata alla temperatura nella permeabilità al potassio della membrana dei globuli rossi, che comporta livelli elevati di potassio in vitro nei campioni conservati a temperature inferiori a 37°C. La FP non si associa ad altri difetti ematici, ma i pazienti possono presentare lievi anomalie come la macrocitosi."},"nl":{"name":"Familiale pseudohyperkaliëmie","definition":"Familiale pseudohyperkaliëmie (FP) is een erfelijk, mild, niet-hemolytisch subtype van hereditaire stomatocytose dat geassocieerd is met een temperatuurafhankelijke afwijking van de membraanpermeabiliteit van rode bloedcellen voor kalium, die leidt tot hoge gehaltes van kalium <i>in vitro</i> in stalen die bewaard worden onder 37°C. FP is niet geassocieerd met bijkomende hematologische afwijkingen, hoewel getroffen individuen enkele milde afwijkingen zoals macrocytose kunnen vertonen."},"pt":{"name":"Pseudo-hipercaliemia familiar"},"pl":{"name":"Rodzinna pseudohiperkalemia"},"cs":{"name":"Familiární pseudohyperkalemie"},"uk":{"name":"Сімейна псевдогіперкаліємія","definition":"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."},"zh":{"name":"家族性假高血钾症"},"tr":{"name":"ailesel psödohiperkalemi"}},"xrefs":[{"source":"OMIM","code":"609153","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D58.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1653996588"},{"source":"MONDO","code":"0012204","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273970","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":100040,"name":"OBSOLETE: Familial pseudohyperkalemia type 2","status":"inactive"},{"type":"Referred to","orpha":100041,"name":"OBSOLETE: Familial pseudohyperkalemia, Cardiff type","status":"inactive"}],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98365,"name":"Hereditary stomatocytosis","classifications":[156,194]}],"children":[],"genes":[{"symbol":"ABCB6","name":"ATP binding cassette subfamily B member 6 (LAN blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23180570[PMID]_24947683[PMID]","hgnc":"47","ensembl":"ENSG00000115657","omim":"605452","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-09-02","source":"23180570[PMID]_11918557[PMID]_24947683[PMID]_15142123[PMID]_11918557[PMID]_11167849[PMID]_1929192[PMID]_2766660[PMID]","terms":[{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004446","label":"Stomatocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005518","label":"Increased mean corpuscular volume","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004802","label":"Episodic hemolytic anemia","frequency":"Very rare (<4-1%)","criteria":null}]}}