{"orpha":3203,"name":"Overhydrated hereditary stomatocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare disorder of red blood cell membrane permeability to monovalent cations characterized clinically by hemolytic anemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3203/","orphanet_url":"https://www.orpha.net/en/disease/detail/3203","names":{"fr":{"name":"Stomatocytose héréditaire avec hématies hyperhydratées","synonyms":["Stomatocytose familiale avec hématies hyperhydratées"],"definition":"Maladie rare de la perméabilité de la membrane érythrocytaire aux cations monovalents, caractérisée sur le plan clinique par une anémie hémolytique."},"de":{"name":"Überhydrierte hereditäre Stomatozytose","synonyms":["OHS (Overhydrated Hereditary Stomatocytosis)"],"definition":"Eine seltene hämolytische Anämie, die durch eine gestörte Durchlässigkeit der Membran der roten Blutkörperchen für einwertige Kationen gekennzeichnet ist"},"es":{"name":"Estomatocitosis hereditaria con hematíes hiperhidratados","definition":"Es un trastorno poco frecuente de la permeabilidad de la membrana eritrocitaria a los cationes monovalentes. caracterizado clínicamente por anemia hemolítica."},"it":{"name":"Stomatocitosi ereditaria con emazie iperidratate"},"nl":{"name":"Overgehydrateerde erfelijke stomatocytose","definition":"Een zeldzame aandoening van de permeabiliteit van de membraan van rode bloedcellen voor monovalente kationen, klinisch gekenmerkt door hemolytische anemie."},"pt":{"name":"Estomatocitose hereditária hiper-hidratada","definition":"A estomatocitose hereditária sobrehidratada (OHSt) é um distúrbio da permiabilidade da membrana dos glóbulos vermelhos aos catiões monovalentes e é caracterizada clinicamente por anemia hemolítica."},"pl":{"name":"Dziedziczna uwodniona stomatocytoza","definition":"Rzadkie zaburzenie przepuszczalności błony komórkowej czerwonych krwinek dla kationów jednowartościowych, klinicznie charakteryzujące się niedokrwistością hemolityczną."},"cs":{"name":"Hyperhydratovaná hereditární stomatocytóza"},"uk":{"name":"Спадковий стоматоцитоз з гіпергідратацією","definition":"Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia."},"zh":{"name":"遗传性口形红细胞增多症"},"tr":{"name":"Aşırı hidrate kalıtsal stomatositoz"}},"xrefs":[{"source":"OMIM","code":"185000","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.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"595647587"},{"source":"MONDO","code":"0008493","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861455","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4183","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":"RHAG","name":"Rh associated glycoprotein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23664421[PMID]","hgnc":"10006","ensembl":"ENSG00000112077","omim":"180297","loci":["6p12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-09","source":"29559519[PMID]_15180870[PMID]_31364155[PMID]_21859730[PMID]_28447420[PMID]","terms":[{"hpo":"HP:0025065","label":"Abnormal mean corpuscular volume","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025547","label":"Decreased mean corpuscular hemoglobin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"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:0001923","label":"Reticulocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004446","label":"Stomatocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001977","label":"Abnormal thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011273","label":"Anisocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001046","label":"Intermittent jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}