{"orpha":3202,"name":"Dehydrated hereditary stomatocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary xerocytosis"],"definition":"A rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration of variable degree, and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3202/","orphanet_url":"https://www.orpha.net/en/disease/detail/3202","names":{"fr":{"name":"Stomatocytose héréditaire avec hématies déshydratées","synonyms":["Stomatocytose familiale avec hématies déshydratées","Xérocytose familiale","Xérocytose héréditaire"],"definition":"Anémie hémolytique rare caractérisée par une diminution de la fragilité osmotique des globules rouges due à un défaut de perméabilité aux cations, entraînant une déshydratation des globules rouges de degré variable et une hémolyse compensée légère à modérée. Une pseudo-hyperkaliémie (perte d'ions potassium des globules rouges lors du stockage à température ambiante) est parfois observée."},"de":{"name":"Dehydrierte hereditäre Stomatozytose","synonyms":["Xerozytose, hereditäre"],"definition":"Eine seltene hämolytische Anämie, die durch eine verringerte osmotische Fragilität der Erythrozyten aufgrund eines Defekts der Kationenpermeabilität gekennzeichnet ist, was zu einer Dehydratation der Erythrozyten unterschiedlichen Ausmaßes und einer leichten bis mittelschweren kompensierten Hämolyse führt. Manchmal wird eine Pseudohyperkaliämie (Verlust von Kaliumionen aus den Erythrozyten bei Lagerung bei Raumtemperatur) beobachtet."},"es":{"name":"Estomatocitosis hereditaria deshidratada","synonyms":["Xerocitosis hereditaria"],"definition":"Es una anemia hemolítica poco frecuente caracterizada por una reducción de la fragilidad osmótica de los eritrocitos debido a un defecto de la permeabilidad de cationes, lo que provoca una deshidratación eritrocitaria de grado variable y hemólisis compensada de leve a moderada intensidad. En ocasiones se observa pseudohiperpotasemia, causada por la pérdida de potasio de los hematíes durante su almacenamiento a temperatura ambiente."},"it":{"name":"Stomatocitosi ereditaria con emazie disidratate","synonyms":["Xerocitosi ereditaria"],"definition":"La stomatocitosi ereditaria con emazie disidratate (DHS) è un'anemia emolitica rara caratterizzata da una diminuzione della fragilità osmotica eritrocitaria da difetto della permeabilità ai cationi, responsabile della disidratazione degli eritrociti, e di un'emolisi lievemente-moderatamente compensata. Occasionalmente è presente pseudo-iperkaliemia (perdita di ioni di potassio dagli eritrociti conservati a temperatura ambiente)."},"nl":{"name":"Gedehydrateerde erfelijke stomatocytose","synonyms":["Erfelijke xerocytose"],"definition":"Een zeldzame hemolytische anemie, gekenmerkt door een verlaagde osmotische fragiliteit van rode bloedcellen door een defect in permeabiliteit voor kationen, wat resulteert in variabele gradaties van dehydratie van rode bloedcellen, en milde tot matige gecompenseerde hemolyse. Pseudohyperkaliëmie (verlies van kaliumionen uit rode bloedcellen bij opslag op kamertemperatuur) wordt soms waargenomen."},"pt":{"name":"Estomatocitose hereditária desidratada"},"pl":{"name":"Dziedziczna odwodniona stomatocytoza","synonyms":["Dziedziczna kserocytoza"],"definition":"Rzadka niedokrwistość hemolityczna charakteryzująca się zmniejszoną kruchością osmotyczną czerwonych krwinek z powodu nieprawidłowej przepuszczalności kationów, co prowadzi do odwodnienia erytrocytów o różnym stopniu i łagodną lub umiarkowaną skompensowaną hemolizą. Czasami obserwuje się pseudohiperkaliemię (utratę jonów potasu z czerwonych krwinek podczas przechowywania w temperaturze pokojowej)."},"cs":{"name":"Dehydratovaná hereditární stomatocytóza","synonyms":["Hereditární xerocytóza"]},"uk":{"name":"Спадковий стоматоцитоз з дегідратацією","synonyms":["Спадковий ксероцитоз"],"definition":"Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed."},"zh":{"name":"脱水遗传性口形红细胞增多症","synonyms":["遗传性干燥细胞增多症"]},"tr":{"name":"Dehidrate kalıtsal stomatositoz","synonyms":["Kalıtsal kserositoz"]}},"xrefs":[{"source":"OMIM","code":"194380","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616689","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D58.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"799088159"},{"source":"MONDO","code":"0017910","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536764","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272051","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5623","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10089900","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":100039,"name":"Familial pseudohyperkalemia type 1","status":"inactive"}],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98365,"name":"Hereditary stomatocytosis","classifications":[156,194]}],"children":[],"genes":[{"symbol":"PIEZO1","name":"piezo type mechanosensitive ion channel component 1 (Er blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"22529292[PMID]_23695678[PMID]","hgnc":"28993","ensembl":"ENSG00000103335","omim":"611184","loci":["16q24.3"]},{"symbol":"KCNN4","name":"potassium calcium-activated channel subfamily N member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26148990[PMID]_26198474[PMID]","hgnc":"6293","ensembl":"ENSG00000104783","omim":"602754","loci":["19q13.31"]},{"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":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9718354[PMID]_11001917[PMID]_23479567[PMID]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"9718354[PMID]_11001917[PMID]_23479567[PMID]_Pr Loïc GARÇON[EXPERT]_Dr Véronique PICARD[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":0.7,"area":"Denmark","status":"Validated","source":"39400415[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":0.1,"area":"North America","status":"Validated","source":"31308777[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-07","source":"30187933[PMID]_30655378[PMID]_29210095[PMID]_21944700[PMID}","terms":[{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005502","label":"Increased red cell osmotic fragility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001930","label":"Nonspherocytic hemolytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011042","label":"Abnormality of potassium homeostasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032231","label":"Hypochromia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003573","label":"Increased total bilirubin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001972","label":"Macrocytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001981","label":"Schistocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010972","label":"Anemia of inadequate production","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004804","label":"Congenital hemolytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012431","label":"Episodic fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001900","label":"Increased circulating hemoglobin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025548","label":"Increased mean corpuscular hemoglobin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005518","label":"Increased mean corpuscular volume","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001046","label":"Intermittent jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003265","label":"Neonatal hyperbilirubinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001907","label":"Thromboembolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001901","label":"Polycythemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030242","label":"Portal vein thrombosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030950","label":"Pulmonary venous hypertension","frequency":"Very rare (<4-1%)","criteria":null}]}}