{"orpha":99843,"name":"Leukocyte adhesion deficiency type II","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CDG syndrome type IIc","CDG-IIc","CDG2C","LAD-II","Rambam-Hasharon syndrome","SLC35C1-CDG"],"definition":"A form of leukocyte adhesion deficiency (LAD) characterized by recurrent bacterial infections, severe growth delay, and severe intellectual deficit.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99843/","orphanet_url":"https://www.orpha.net/en/disease/detail/99843","names":{"fr":{"name":"Déficit d'adhésion leucocytaire type II","synonyms":["CDG2C","DAL-II","Déficit d'adhérence des leucocytes type II","Déficit d'adhérence leucocytaire type II","Déficit d'adhésion des leucocytes type II","LAD-II","SLC35C1-CDG","Syndrome CDG type IIc","Syndrome de Rambam-Hasharon","CDG-IIc"],"definition":"Forme de déficit d'adhésion des leucocytes (DAL) caractérisée par des infections bactériennes récurrentes, un retard de croissance et une déficience intellectuelle sévères."},"de":{"name":"Leukozytenadhäsionsdefekt Typ II","synonyms":["CDG IIc","CDG-Syndrom Typ IIc","CDG2C","Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIc","LAD-II","Rambam-Hasharon-Syndrom","SLC35C1-CDG"],"definition":"Eine Form des Leukozyten-Adhäsionsdefekts (LAD), die durch rezidivierende bakterielle Infektionen, eine schwere Wachstumsverzögerung und ein schweres intellektuelles Defizit gekennzeichnet ist."},"es":{"name":"Deficiencia de adhesión leucocitaria tipo II","synonyms":["CDG-IIc","CDG2C","LAD-II","SLC35C1-CDG","Síndrome CDG tipo IIc","Síndrome de Rambam-Hasharon"],"definition":"Es una forma de deficiencia de adhesión leucocitaria (DAL) caracterizada por infecciones bacterianas recurrentes, retraso grave del crecimiento y déficit intelectual profundo."},"it":{"name":"Deficit di adesione leucocitaria, tipo II","synonyms":["CDG-IIc","CDG2C","LAD-II","SLC35C1-CDG","Sindrome CDG, tipo IIc","Sindrome di Rambam-Hasharon"]},"nl":{"name":"Deficiëntie van leukocytenadhesie type II","synonyms":["CDG-IIc","CDG-syndroom type IIc","CDG2C","Congenitale defecten van de glycosylering type IIc","Congenitale glycosylatiestoornis type IIc","LAD-II","Leukocytenadhesiedeficiëntie type II","SLC35C1-CDG","Syndroom van Rambam-Hasharon"],"definition":"Een vorm van deficiëntie van leukocytenadhesie (LAD), gekenmerkt door recidiverende bacteriële infecties, ernstige groeiachterstand, en ernstige intellectuele achterstand."},"pt":{"name":"Deficiência de adesão leucocitária tipo II","definition":"A deficiência da adesão leucocitária tipo II (LAD-II) é uma forma de LAD (ver este termo) caracterizada por infecções bacterianas recorrentes, atraso grave do crescimento e do desenvolvimento intelectual."},"pl":{"name":"Niedobór adhezji leukocytów typu II","synonyms":["CDG2C","LAD-II","CDG-IIc","SLC35C1-CDG","Zespół CDG typu IIc","Zespół Rambama i Hasharona"]},"cs":{"name":"Deficit adheze leukocytů, typ II","synonyms":["CDG syndrom, typ IIc","CDG-IIc","CDG2C","LAD-II","Rambam-Hasharon syndrom","SLC35C1-CDG"]},"uk":{"name":"Дефіцит адгезії лейкоцитів, тип II","synonyms":["Синдром CDG, тип IIc","CDG2C","CDG-IIc","LAD-ІІ","Синдром Рамбама-Гашарона","SLC35C1-CDG"],"definition":"Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit."},"zh":{"name":"白细胞粘附缺陷2型","synonyms":["Rambam-Hasharon综合征"],"definition":"白细胞黏附缺陷II型(LAD-II)是LAD的一种形式，其特征是反复的细菌感染，严重的生长迟缓和严重的智力缺陷。"},"tr":{"name":"Lökosit adezyon eksikliği tip II","synonyms":["CDG2C","LAD-II","CDG-IIc","SLC35C1-CDG","CDG sendromu tip IIc","Rambam-Hasharon sendromu"]}},"xrefs":[{"source":"OMIM","code":"266265","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C54.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"362744928"},{"source":"MONDO","code":"0009953","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535755","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0398739","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4634","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":371071,"name":"Congenital disorder of glycosylation with epilepsy as a major feature","classifications":[156,181]},{"orpha":309526,"name":"Disorder of multiple glycosylation","classifications":[150,156]},{"orpha":2968,"name":"Leukocyte adhesion deficiency","classifications":[156,189,195]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"24403049[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24403049[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-21","source":"20099014[PMID]_20301507[PMID]_31530991[PMID]","terms":[{"hpo":"HP:0410292","label":"Abnormal isohemagglutinin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011897","label":"Neutrophilia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001935","label":"Microcytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001954","label":"Recurrent fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011229","label":"Broad eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001169","label":"Broad palm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007041","label":"Chronic lymphocytic meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020045","label":"Esodeviation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007333","label":"Hypoplasia of the frontal lobes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031629","label":"Impaired tandem gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011341","label":"Long upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006895","label":"Lower limb hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006480","label":"Premature loss of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010808","label":"Protruding tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031123","label":"Recurrent gastroenteritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100699","label":"Scarring","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000166","label":"Severe periodontitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200037","label":"Skin vesicle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000385","label":"Small earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}