{"orpha":288,"name":"Hereditary elliptocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HE"],"definition":"Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-288/","orphanet_url":"https://www.orpha.net/en/disease/detail/288","names":{"fr":{"name":"Elliptocytose familiale","synonyms":["EH","Elliptocytose héréditaire"],"definition":"L'elliptocytose familiale (EF) est une maladie rare de la membrane des globules rouges, hétérogène cliniquement et génétiquement. Elle se caractérise par des manifestations allant d'une anémie hémolytique légère à sévère, dépendante des transfusions, mais la majorité des patients sont asymptomatiques."},"de":{"name":"Elliptozytose, hereditäre","synonyms":["HE"],"definition":"Die hereditäre Elliptozytose (HE) ist eine seltene klinisch und genetisch heterogene Krankheit der Erythrozytenmembran, die sich als milde bis schwere Transfusions-abhängige hämolytische Anämie manifestieren kann. Die Mehrheit der Patienten ist asymptomatisch."},"es":{"name":"Eliptocitosis hereditaria","synonyms":["HE"],"definition":"La eliptocitosis hereditaria (ELH) es una alteración poco frecuente de la membrana de los eritrocitos, con manifestaciones clínica y genéticamente heterogéneas, caracterizada por anemia hemolítica que varía de leve a grave (transfusión- dependiente), pero que en la mayoría de pacientes es asintomática."},"it":{"name":"Ellissocitosi ereditaria","synonyms":["HE"],"definition":"L'ellissocitosi ereditaria (HE) è una malattia rara della membrana eritrocitaria, clinicamente e geneticamente eterogenea, caratterizzata da segni di anemia emolitica lievi-gravi, dipendente dalle trasfusioni. La maggior parte dei pazienti è asintomatica."},"nl":{"name":"Erfelijke elliptocytose","synonyms":["HE"],"definition":"Een zeldzame, klinisch en genetisch heterogene aandoening van de membraan van rode bloedcellen, gekarakteriseerd door manifestaties gaande van milde tot ernstige transfusie-afhankelijke hemolytische anemie, maar de meerderheid van de patiënten is echter asymptomatisch."},"pt":{"name":"Eliptocitose hereditária"},"pl":{"name":"Eliptocytoza dziedziczna","synonyms":["HE"]},"cs":{"name":"Dědičná eliptocytóza","synonyms":["HE"]},"uk":{"name":"Спадковий еліптоцитоз","synonyms":["HE"],"definition":"Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic."},"zh":{"name":"遗传性椭圆形红细胞增多症","synonyms":["HE"]},"tr":{"name":"Kalıtsal elliptositoz","synonyms":["HE"]}},"xrefs":[{"source":"OMIM","code":"130600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"235370","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611804","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617948","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D58.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"3A10.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"679955609"},{"source":"MONDO","code":"0017319","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004612","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0013902","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6621","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10014490","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":98864,"name":"Common hereditary elliptocytosis","status":"inactive"},{"type":"Moved to","orpha":98865,"name":"Homozygous hereditary elliptocytosis","status":"inactive"},{"type":"Referred to","orpha":98866,"name":"OBSOLETE: Spherocytic elliptocytosis","status":"inactive"},{"type":"Moved to","orpha":98867,"name":"Hereditary pyropoikilocytosis","status":"inactive"}],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98364,"name":"Rare constitutional hemolytic anemia due to a red cell membrane anomaly","classifications":[156,194]}],"children":[],"genes":[{"symbol":"EPB41","name":"erythrocyte membrane protein band 4.1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23664421[PMID]","hgnc":"3377","ensembl":"ENSG00000159023","omim":"130500","loci":["1p35.3"]},{"symbol":"GYPC","name":"glycophorin C (Gerbich blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"1884026[PMID]_8353290[PMID]","hgnc":"4704","ensembl":"ENSG00000136732","omim":"110750","loci":["2q14.3"]},{"symbol":"SPTA1","name":"spectrin alpha, erythrocytic 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23664421[PMID]","hgnc":"11272","ensembl":"ENSG00000163554","omim":"182860","loci":["1q23.1"]},{"symbol":"SPTB","name":"spectrin beta, erythrocytic","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23664421[PMID]","hgnc":"11274","ensembl":"ENSG00000070182","omim":"182870","loci":["14q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-16","source":"32966004[PMID]_30369757[PMID]_23664421[PMID]_27667160[PMID]_3818958[PMID]_3708157[PMID]_3801663[PMID]","terms":[{"hpo":"HP:0001877","label":"Abnormal erythrocyte morphology","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0004445","label":"Elliptocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005502","label":"Increased red cell osmotic fragility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004804","label":"Congenital hemolytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002904","label":"Hyperbilirubinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003265","label":"Neonatal hyperbilirubinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004447","label":"Poikilocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004446","label":"Stomatocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025143","label":"Chills","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very rare (<4-1%)","criteria":null}]}}