{"orpha":822,"name":"Hereditary spherocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Minkowski-Chauffard disease"],"definition":"Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-822/","orphanet_url":"https://www.orpha.net/en/disease/detail/822","names":{"fr":{"name":"Sphérocytose héréditaire","synonyms":["Maladie de Minkowski-Chauffard"],"definition":"Anémie hémolytique congénitale présentant un large spectre clinique (du porteur asymptomatique à l'hémolyse sévère) caractérisée par une anémie, un ictère de degré variable, une splénomégalie et une cholélithiase."},"de":{"name":"Sphärozytose, hereditäre","synonyms":["Kugelzellenanämie","Minkowski-Chauffard-Syndrom"],"definition":"Die hereditäre Sphärozytose (HS) ist eine angeborene hämolytische Anämie mit einem breiten klinischen Spektrum (von symptomfreien Trägern bis zu schwerer Hämolyse), die durch Anämie, variablen Ikterus, Splenomegalie und Cholelithiasis gekennzeichnet ist."},"es":{"name":"Esferocitosis hereditaria","synonyms":["Enfermedad de Minkowski-Chauffard"],"definition":"La esferocitosis hereditaria es una anemia hemolítica congénita con un amplio espectro clínico (desde portadores asintomáticos hasta hemolisis grave) caracterizada por anemia, ictericia variable, esplenomegalia y colelitiasis."},"it":{"name":"Sferocitosi ereditaria","synonyms":["Sindrome di Minkowski-Chauffard"],"definition":"La sferocitosi ereditaria è un'anemia emolitica congenita, che presenta un quadro clinico ampio (che comprende soggetti asintomatici fino all'emolisi grave), con anemia, ittero di grado variabile, splenomegalia e colelitiasi."},"nl":{"name":"Hereditaire sferocytose","synonyms":["Erfelijke sferocytose","Ziekte van Minkowski-Chauffard"],"definition":"Erfelijke sferocytose is een congenitale hemolytische anemie met een breed klinisch spectrum (gaande van symptoomvrije dragers tot ernstige hemolyse) die gekarakteriseerd wordt door anemie, variabele geelzucht, splenomegalie en cholelithiasis (galstenen)."},"pt":{"name":"Esferocitose hereditária"},"pl":{"name":"Sferocytoza dziedziczna","synonyms":["Choroba Minkowskiego i Chauffarda"]},"cs":{"name":"Hereditární sférocytóza","synonyms":["Minkowskiho-Chauffardova nemoc","Minkowski-Chauffardova nemoc"]},"uk":{"name":"Спадковий сфероцитоз","synonyms":["Хвороба Мінковського-Шоффара"],"definition":"Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis."},"zh":{"name":"遗传性球形红细胞增多症","synonyms":["Minkowski-Chauffard病"]},"tr":{"name":"Kalıtsal sferositoz","synonyms":["Minkowski-Chauffard hastalığı"]}},"xrefs":[{"source":"OMIM","code":"182900","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"270970","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612653","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612690","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616649","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D58.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"3A10.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1305248013"},{"source":"MONDO","code":"0019350","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D013103","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0037889","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6639","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10019904","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":"ANK1","name":"ankyrin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23664421[PMID]","hgnc":"492","ensembl":"ENSG00000029534","omim":"612641","loci":["8p11.21"]},{"symbol":"EPB42","name":"erythrocyte membrane protein band 4.2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23664421[PMID]","hgnc":"3381","ensembl":"ENSG00000166947","omim":"177070","loci":["15q15.2"]},{"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]","hgnc":"11027","ensembl":"ENSG00000004939","omim":"109270","loci":["17q21.31"]},{"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":"Value and class","class":"1-5 / 10 000","value":50.0,"area":"Germany","status":"Validated","source":"1554800[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"United States","status":"Validated","source":"14476391[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]_1554800[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-14","source":"30511538[PMID]_30763822[PMID]_30969619[PMID]_28463670[PMID]_24624460[PMID]","terms":[{"hpo":"HP:0005502","label":"Increased red cell osmotic fragility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002904","label":"Hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100724","label":"Hypercoagulability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011900","label":"Hypofibrinogenemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025548","label":"Increased mean corpuscular hemoglobin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004444","label":"Spherocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005525","label":"Spontaneous hemolytic crises","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025143","label":"Chills","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001978","label":"Extramedullary hematopoiesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040186","label":"Maculopapular exanthema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001723","label":"Restrictive cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001997","label":"Gout","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very rare (<4-1%)","criteria":null}]}}