{"orpha":99844,"name":"Leukocyte adhesion deficiency type III","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["LAD-1 variant","LAD-III","Leukocyte adhesion deficiency-1 variant"],"definition":"A form of leukocyte adhesion deficiency (LAD) characterized by both severe bacterial infections and a severe bleeding disorder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99844/","orphanet_url":"https://www.orpha.net/en/disease/detail/99844","names":{"fr":{"name":"Déficit d'adhésion leucocytaire type III","synonyms":["DAL-III","Déficit d'adhérence des leucocytes type III","Déficit d'adhérence leucocytaire type III","Déficit d'adhésion des leucocytes type III","LAD-III","Variant du DAL-I","Variant du déficit d'adhésion leucocytaire type I"],"definition":"Forme de déficit d'adhésion des leucocytes (DAL) caractérisée par des infections bactériennes sévères et un trouble grave de la coagulation."},"de":{"name":"Leukozytenadhäsionsdefekt Typ III","synonyms":["LAD-1 Variante","LAD-III","Leukozytenadhäsionsdefekt Typ I Variante"],"definition":"Eine Form des Leukozyten-Adhäsionsdefekts (LAD), die sowohl durch schwere bakterielle Infektionen als auch durch eine schwere Blutungsstörung gekennzeichnet ist."},"es":{"name":"Deficiencia de adhesión leucocitaria tipo III","synonyms":["DAL-III","Variante de DAL-1","Variante de la deficiencia de adhesión leucocitaria 1"],"definition":"Es una forma de deficiencia de adhesión leucocitaria (DAL) caracterizada por infecciones bacterianas graves y un trastorno hemorrágico grave."},"it":{"name":"Deficit di adesione leucocitaria, tipo III","synonyms":["LAD-III","Variante del deficit dell'adesione leucocitaria tipo 1","Variante di LAD-1"]},"nl":{"name":"Deficiëntie van leukocytenadhesie type III","synonyms":["LAD-1 variant","LAD-III","Leukocytadhesiedeficiëntie type I variant","Leukocytenadhesiedeficiëntie type III"],"definition":"Een vorm van deficiëntie van leukocytenadhesie (LAD), gekenmerkt door zowel ernstige bacteriële infecties als een ernstige bloedingsstoornis."},"pt":{"name":"Deficiência de adesão leucocitária tipo III","definition":"A deficiência na adesão leucocitária tipo III (LAD-III) é uma forma de LAD (ver este termo) caracterizada por infecções bacterianas graves e síndrome hemorrágico grave."},"pl":{"name":"Niedobór adhezji leukocytów typu III","synonyms":["LAD-1 wariant","LAD-III","Niedobór adhezji leukocytów typu-1 wariant"]},"cs":{"name":"Deficit adheze leukocytů, typ III","synonyms":["LAD, varianta 1","LAD-III","Deficit adheze leukocytů, varianta 1"]},"uk":{"name":"Дефіцит адгезії лейкоцитів, тип III","synonyms":["Варіант LAD-1","LAD-III","Дефіцит адгезії лейкоцитів-1 варіант"],"definition":"Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder."},"zh":{"name":"白细胞粘附缺陷3型","synonyms":["白细胞粘附缺陷-1型变异体"],"definition":"白细胞黏附缺陷III型(LAD-III)是LAD的一种形式(见该词条)，其特征是严重的细菌感染和严重的出血障碍。"},"tr":{"name":"Lökosit adezyon eksikliği tip III","synonyms":["LAD-III","LAD-1 varyantı","Lökosit adezyon eksikliği-1 varyantı"]}},"xrefs":[{"source":"OMIM","code":"612840","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2063283326"},{"source":"MONDO","code":"0013016","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567555","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2748536","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":2968,"name":"Leukocyte adhesion deficiency","classifications":[156,189,195]},{"orpha":2781,"name":"Osteopetrosis and related disorders","classifications":[147,156,199,233]}],"children":[],"genes":[{"symbol":"FERMT3","name":"FERM domain containing kindlin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":null,"hgnc":"23151","ensembl":"ENSG00000149781","omim":"607901","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"28827066[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28827066[PMID]"}],"phenotypes":null}