{"orpha":56425,"name":"Cold agglutinin disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CAD","CAS","Chronic cold agglutinin disease","Cold agglutinin syndrome"],"definition":"Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-56425/","orphanet_url":"https://www.orpha.net/en/disease/detail/56425","names":{"fr":{"name":"Maladie des agglutinines froides","synonyms":["CAD","CAS","Syndrome des agglutinines froides"],"definition":"La maladie des agglutinines froides (MAF) est une forme d'anémie hémolytique auto-immune (AHAI) définie par la présence d'auto-anticorps « froids », c'est-à-dire actifs à des températures inférieures à 30 °C."},"de":{"name":"Kälteagglutininkrankheit","synonyms":["CAD","CAS","Kälteagglutinin-Syndrom","Kälteagglutininkrankheit, chronische"],"definition":"Die Kälteagglutinin-Krankheit ist ein Typ der Autoimmun-hämolytischen Anämie (AIHA; s. dort) und gekennzeichnet durch die Anwesenheit von Kälte-Autoantikörpern (unterhalb von 30°C aktive Autoantikörper). Die Kälteagglutinin-Krankheit macht 16-32% der Fälle von AIHA aus."},"es":{"name":"Enfermedad de las crioaglutininas","synonyms":["Enfermedad de la aglutinina fría"],"definition":"La enfermedad de las crioaglutininas es un tipo de anemia hemolítica autoinmune (consulte este término) caracterizada por la presencia de autoanticuerpos (AAC) fríos (aquellos autoanticuerpos activos a temperaturas por debajo de los 30 &#730;C)."},"it":{"name":"Malattia delle agglutinine fredde","synonyms":["CAD","CAS","Malattia cronica delle agglutinine fredde","Sindrome delle agglutinine fredde"]},"nl":{"name":"Koude agglutinine-ziekte","synonyms":["CAD","CAS","Chronische koude agglutinine-ziekte","Koude agglutinine-syndroom"],"definition":"Een type van auto-immune hemolytische anemie (AIHA), gedefinieerd door aanwezigheid van koude auto-antilichamen (auto-antilichamen die actief zijn bij temperaturen onder 30°C)."},"pt":{"name":"Doença de aglutininas frias","definition":"A doença por aglutininas a frio é um tipo de anemia hemolítica auto-imune (ver este termo) definida pela presença de auto-anticorpos ao frio (auto-anticorpos que estão activos a temperaturas abaixo de 30 &deg; C)."},"pl":{"name":"Choroba zimnych aglutynin","synonyms":["CAD","CAS","Przewlekła choroba zimnychaglutynin","Zespół zimnych aglutynin"]},"cs":{"name":"Nemoc chladových aglutininů","synonyms":["CAD","CAS","Chronická nemoc chladových aglutininů","Syndrom chladových aglutininů"]},"uk":{"name":"Хвороба холодового аглютиніну","synonyms":["CAD","CAS","Хронічна хвороба холодового аглютиніну","Синдром холодового аглютиніну"],"definition":"Cold agglutinin disease is a type of autoimmune hemolytic anemia (see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C)."},"zh":{"name":"冷凝集素病","synonyms":["慢性冷凝集素病"]},"tr":{"name":"Soğuk aglutinin hastalığı","synonyms":["CAD","CAS","Soğuk aglutinin sendromu","Kronik soğuk aglutinin hastalığı"]}},"xrefs":[{"source":"ICD-10","code":"D59.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"3A20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2008034337"},{"source":"MONDO","code":"0018922","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0175816","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6130","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":228312,"name":"Autoimmune hemolytic anemia, cold type","classifications":[194]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.19,"area":"Norway","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Italy","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012086","label":"Abnormal urinary color","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}