{"orpha":98868,"name":"Southeast Asian ovalocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary ovalocytosis","Melanesian elliptocytosis","Melanesian ovalocytosis","SAO","Stomatocytic elliptocytosis"],"definition":"Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98868/","orphanet_url":"https://www.orpha.net/en/disease/detail/98868","names":{"fr":{"name":"Ovalocytose de l'Asie du Sud-Est","synonyms":["Elliptocytose mélanésienne","Elliptocytose stomatocytique","Ovalocytose mélanésienne"],"definition":"L'ovalocytose de l'Asie du Sud-Est (SAO) est une anomalie de membrane des globules rouges, rare et héréditaire, caractérisée par la présence d'érythrocytes de forme ovale. La plupart des patients sont asymptomatiques ou manifestent des signes légers occasionnels, tels qu'une pâleur, un ictère, une anémie et des calculs biliaires."},"de":{"name":"Ovalozytose, südostasiatische","synonyms":["Melanesische Ovalozytose","SAO","Stomatozytische hereditäre Elliptozytose","Südasiatische Elliptozytose"],"definition":"Die Südostasiatische Ovalozytose (SAO) ist eine seltene Störung der Erythrozytenmembran, die durch ovale rote Blutkörperchen gekennzeichnet ist. Die meisten Patienten sind symptomlos oder zeigen gelegentlich milde Symptome wie z. B. Blässe, Gelbsucht, Anämie and Gallensteine."},"es":{"name":"Ovalocitosis del sudeste asiático","synonyms":["Eliptocitosis estomatocítica","Eliptocitosis melanesia","Ovalocitosis hereditaria","Ovalocitosis melanesia","SAO"],"definition":"La ovalocitosis del sudeste asiático (OSA) es un defecto hereditario poco frecuente de la membrana de los glóbulos rojos, caracterizado por la presencia de eritrocitos ovalados; la mayoría de los pacientes son asintomáticos o manifiestan ocasionalmente síntomas leves tales como palidez, ictericia, anemia y cálculos biliares."},"it":{"name":"Ovalocitosi, tipo Sud-Est asiatico","synonyms":["Ellissocitosi melanesiana","Ellissocitosi stomatocitica","Ovalocitosi ereditaria","Ovalocitosi melanesiana","SAO"],"definition":"L'ovalocitosi del Sud-est asiatico (SAO) è un difetto ereditario raro della membrana eritrocitaria, caratterizzato dalla presenza di eritrociti dalla forma ovale. La maggior parte dei pazienti è asintomatica o può presentare sintomi lievi come il pallore, l'ittero, l'anemia e la calcolosi biliare."},"nl":{"name":"Zuidoost-Aziatische ovalocytose","synonyms":["Erfelijke ovalocytose","Melanesische elliptocytose","Melanesische ovalycytose","SAO","Stomatocytische elliptocytose"],"definition":"Zuidoost-Aziatische ovalocytose (SAO) is een zeldzaam erfelijk defect van het membraan van rode bloedcellen, dat gekenmerkt wordt door de aanwezigheid van ovaalvormige erytrocyten en waarbij de meeste patiënten asymptomatisch zijn of occasioneel milde symptomen zoals pallor, geelzucht, anemie en galstenen vertonen."},"pt":{"name":"Ovalocitose do sudeste asiático"},"pl":{"name":"Owalocytoza południowoazjatycka","synonyms":["Eliptocytoza melanezyjska","Eliptocytoza stomatocytowa","Owalocytoza dziedziczna","Owalocytoza melanezyjska","SAO"]},"cs":{"name":"Jihovýchodoasijská ovalocytóza","synonyms":["Hereditární ovalocytóza","Melanézská eliptocytóza","Melanézská ovalocytóza","SAO","Stomatocytická eliptocytóza"]},"uk":{"name":"Овалоцитоз Південно-Східної Азії","synonyms":["Спадковий овалоцитоз","Меланезійський еліптоцитоз","Меланезійський овалоцитоз","САО","Стоматоцитарний еліптоцитоз"],"definition":"Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones."},"zh":{"name":"东南亚卵形红细胞增多症","synonyms":["口形红细胞椭圆形红细胞增多症"],"definition":"东南亚椭圆形红细胞增多症(SAO)是一种罕见的遗传性红细胞膜缺陷，以椭圆形红细胞存在为特征，多数患者无症状或偶尔表现为轻度症状，如苍白、黄疸、贫血和胆结石。"},"tr":{"name":"Güneydoğu Asya ovalositozu","synonyms":["SAO","Kalıtsal ovalositoz","Melanezyen ovalositoz","Melanezyen elliptositoz","Stomatositik elliptositoz"]}},"xrefs":[{"source":"OMIM","code":"166900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D58.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"835618545"},{"source":"MONDO","code":"0008165","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862322","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":"23664421[PMID]_23339107[PMID]","hgnc":"11027","ensembl":"ENSG00000004939","omim":"109270","loci":["17q21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-10-23","source":"32966004[PMID]_37966962[PMID]_32758154[PMID]_20421175[PMID]","terms":[{"hpo":"HP:0001017","label":"Anemic pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004445","label":"Elliptocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034609","label":"Polychromasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020181","label":"Reduced haptoglobin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004446","label":"Stomatocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008282","label":"Unconjugated hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005518","label":"Increased mean corpuscular volume","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001947","label":"Renal tubular acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004444","label":"Spherocytosis","frequency":"Occasional (29-5%)","criteria":null}]}}