{"orpha":398088,"name":"Hereditary cryohydrocytosis with normal stomatin","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-398088/","orphanet_url":"https://www.orpha.net/en/disease/detail/398088","names":{"fr":{"name":"Cryohydrocytose héréditaire avec stomatine normale","definition":"Anémie hémolytique héréditaire rare par anomalie de la membrane du globule rouge caractérisée par une fatigue, une légère anémie et une pseudohyperkaliémie due à une fuite de potassium à partir des globules rouges. La maladie se caractérise par la lyse des globules rouges lorsqu'ils sont conservés à 4 degrés centigrades."},"de":{"name":"Kryohydrozytose mit normalem Stomatin, hereditäre Form"},"es":{"name":"Criohidrocitosis hereditaria con estomatina normal","definition":"Es una anemia hemolítica hereditaria poco frecuente debida a una anomalía de la membrana eritrocitaria. Está caracterizada por fatiga, anemia leve y pseudohiperpotasemia debida a una pérdida de potasio de los glóbulos rojos. Una característica de esta enfermedad es que los glóbulos rojos se lisan al almacenarlos a 4 grados centígrados."},"it":{"name":"Crioidrocitosi ereditaria con normale stomatina","definition":"La crioidrocitosi ereditaria associata a normale stomatina è un'anemia emolitica ereditaria rara, causata da un'anomalia della membrana dei globuli rossi, caratterizzata da affaticamento, lieve anemia e pseudoiperkaliemia, secondaria ad una perdita di potassio dai globuli rossi. È caratteristica della malattia la lisi dei globuli rossi conservati a 4°C."},"nl":{"name":"Hereditaire cryohydrocytose met normaal stomatine","synonyms":["Erfelijke cryohydrocytose met normaal stomatine"],"definition":"Erfelijke cryohydrocytose met normale stomatine is een zeldzame, erfelijke, hemolytische anemie ten gevolge van een anomalie van de membraan van rode bloedcellen, en wordt gekarakteriseerd door vermoeidheid, milde anemie en pseudohyperkaliëmie door het lekken van kalium uit de rode bloedcellen. Een typisch kenmerk van deze conditie is dat rode bloedcellen lyseren bij bewaring op 4 graden Celsius."},"pt":{"name":"Criohidrocitose hereditária com estromatina normal"},"pl":{"name":"Dziedziczna kriohydrocytoza z prawidłową stomatyną"},"cs":{"name":"Hereditární kryohydrocytóza s normálním stomatinem"},"uk":{"name":"Спадковий кріогідроцитоз з нормальним стоматином","definition":"Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade."},"zh":{"name":"遗传性冷冻cryohydrocytosis伴正常口型红细胞","definition":"遗传性低温水细胞增多症伴溴化丙胺太林正常？是一种罕见的遗传性溶血性贫血，由红细胞膜异常引起，表现为红细胞钾渗漏引起的疲劳、轻度贫血和假高钾血症。此情况的一个标志是红细胞在4摄氏度储存时会溶解。"},"tr":{"name":"Normal stomatin ile seyreden kalıtsal kriyohidrositoz"}},"xrefs":[{"source":"OMIM","code":"185020","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","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008494","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750907","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10184","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98365,"name":"Hereditary stomatocytosis","classifications":[156,194]}],"children":[],"genes":[{"symbol":"SLC4A1","name":"solute carrier family 4 member 1 (Diego blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16227998[PMID]","hgnc":"11027","ensembl":"ENSG00000004939","omim":"109270","loci":["17q21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":53.0,"area":"Worldwide","status":"Validated","source":"16227998[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16227998[PMID]"}],"phenotypes":null}