{"orpha":2968,"name":"Leukocyte adhesion deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LAD"],"definition":"A rare primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis, recurrent infections, and delayed detachment of the umbilical cord.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2968/","orphanet_url":"https://www.orpha.net/en/disease/detail/2968","names":{"fr":{"name":"Déficit d'adhésion leucocytaire","synonyms":["DAL","Déficit d'adhérence des leucocytes","Déficit d'adhérence leucocytaire","Déficit d'adhésion des leucocytes","LAD"],"definition":"Déficit immunitaire primaire rare caractérisé par des anomalies du processus d'adhésion leucocytaire, une leucocytose sévère et des infections récurrentes, ainsi qu'une chute retardée du cordon ombilical."},"de":{"name":"Leukozytenadhäsionsdefekt","synonyms":["LAD","Leukozyten-Adhäsions-Defizienz"],"definition":"Ein seltener primärer Immundefekt, der durch Defekte im Leukozytenadhäsionsprozess, ausgeprägte Leukozytose, rezidivierende Infektionen und verzögerte Ablösung der Nabelschnur gekennzeichnet ist."},"es":{"name":"Deficiencia de adhesión leucocitaria","synonyms":["LAD"],"definition":"Es una inmunodeficiencia primaria poco frecuente, caracterizada por defectos en el proceso de adhesión leucocitaria, leucocitosis marcada, infecciones recurrentes y desprendimiento tardío del cordón umbilical."},"it":{"name":"Deficit di adesione leucocitaria","synonyms":["LAD"]},"nl":{"name":"Deficiëntie van leukocytenadhesie","synonyms":["LAD","Leukocytenadhesiedeficiëntie"],"definition":"Een zeldzame primaire immuundeficiëntie, gekenmerkt door defecten in het proces van leukocytenadhesie, uitgesproken leukocytose, recidiverende infecties, en uitgestelde loslating van de navelstreng."},"pt":{"name":"Deficiência de adesão leucocitária","synonyms":["LAD"],"definition":"A deficiência na adesão leucocitária (LAD) é uma imunodeficiência primária caracterizada por defeitos no processo de adesão dos leucócitos, leucocitose marcada e infecções recorrentes."},"pl":{"name":"Zespół zaburzonego przylegania leukocytów","synonyms":["LAD"]},"cs":{"name":"Deficit leukocytové adheze","synonyms":["LAD"]},"uk":{"name":"Дефіцит адгезії лейкоцитів","synonyms":["LAD"],"definition":"Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections."},"zh":{"name":"白细胞粘附缺陷病","synonyms":["LAD"]},"tr":{"name":"Lökosit adezyon eksikliği","synonyms":["DELİKANLI"]}},"xrefs":[{"source":"OMIM","code":"116920","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"266265","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612840","qualifier":"BTNT","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":"317341989"},{"source":"MONDO","code":"0017570","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018370","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5550999","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":674648,"name":"Syndrome with congenital phagocyte functional defect as a major feature","classifications":[156,195]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[{"orpha":99842,"name":"Leukocyte adhesion deficiency type I","type":"Clinical subtype"},{"orpha":99843,"name":"Leukocyte adhesion deficiency type II","type":"Clinical subtype"},{"orpha":99844,"name":"Leukocyte adhesion deficiency type III","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":99844,"name":"Leukocyte adhesion deficiency type III"}},{"symbol":"ITGB2","name":"integrin subunit beta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6155","ensembl":"ENSG00000160255","omim":"600065","loci":["21q22.3"],"via":{"orpha":99842,"name":"Leukocyte adhesion deficiency type I"}},{"symbol":"SLC35C1","name":"solute carrier family 35 member C1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"20197","ensembl":"ENSG00000181830","omim":"605881","loci":["11p11.2"],"via":{"orpha":99843,"name":"Leukocyte adhesion deficiency type II"}}],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":350.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Latin America","status":"Not yet validated","source":"22965369[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-05","source":"23351991[PMID]_30969592[PMID]","terms":[{"hpo":"HP:0011990","label":"Abnormality of neutrophil physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040238","label":"Impaired neutrophil chemotaxis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009098","label":"Chronic oral candidiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032434","label":"Delayed umbilical cord separation","frequency":"Frequent 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(29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000099","label":"Glomerulonephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005575","label":"Hemolytic-uremic syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000825","label":"Hyperinsulinemic hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003540","label":"Impaired platelet aggregation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0500035","label":"Nasolacrimal sac granuloma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009789","label":"Perianal abscess","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001901","label":"Polycythemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025452","label":"Pyoderma gangrenosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011110","label":"Recurrent tonsillitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000166","label":"Severe periodontitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030683","label":"Vaginitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004808","label":"Acute myeloid leukemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004440","label":"Coronal craniosynostosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null}]}}