{"orpha":2132,"name":"Hemoglobin C disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HbCC disease"],"definition":"Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2132/","orphanet_url":"https://www.orpha.net/en/disease/detail/2132","names":{"fr":{"name":"Hémoglobinose C","synonyms":["HbCC"],"definition":"L'hémoglobinose C est une hémoglobinopathie caractérisée par une production d'une variante anormale de l'hémoglobine connue sous le nom d'hémoglobine C, avec ou sans manifestations cliniques légères (anémie hémolytique)."},"de":{"name":"Hämoglobin-C-Krankheit","synonyms":["HbCC-Krankheit"]},"es":{"name":"Enfermedad de la hemoglobina C","synonyms":["Enfermedad HbCC"],"definition":"Es una hemoglobinopatía caracterizada por la producción de una variante anómala de la hemoglobina conocida como hemoglobina C, sin manifestaciones clínicas o con manifestaciones clínicas leves (anemia hemolítica)."},"it":{"name":"Emoglobinopatia C"},"nl":{"name":"Hemoglobine C-ziekte","synonyms":["HbCC-ziekte"],"definition":"Hemoglobine C-ziekte (HbC) is een hemoglobinopathie die gekenmerkt wordt door de productie van een abnormale hemoglobinevariant, bekend als hemoglobine C, met geen of milde klinische manifestaties (hemolytische anemie)."},"pt":{"name":"Doença de hemoglobina C","synonyms":["Doença HbCC"]},"pl":{"name":"Choroba hemoglobiny C","synonyms":["HbCC disease"]},"cs":{"name":"Hemoglobinopatie s hemoglobinem C","synonyms":["HbCC disease"]},"uk":{"name":"Хвороба гемоглобіну С","definition":"Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)."},"zh":{"name":"血红蛋白C病"},"tr":{"name":"Hemoglobin C hastalığı"}},"xrefs":[{"source":"ICD-10","code":"D58.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A51.5","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2097316574"},{"source":"MONDO","code":"0016242","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006445","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0019021","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2640","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10018883","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":466066,"name":"Genetic hemoglobinopathy","classifications":[156]},{"orpha":68364,"name":"Hemoglobinopathy","classifications":[194,233]}],"children":[],"genes":[{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21886666[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":166.66,"area":"United States","status":"Validated","source":"23591685[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.65,"area":"Belgium","status":"Validated","source":"19103861[PMID]"}],"phenotypes":null}