{"orpha":3261,"name":"Autoimmune lymphoproliferative syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ALPS","Canale-Smith syndrome"],"definition":"A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3261/","orphanet_url":"https://www.orpha.net/en/disease/detail/3261","names":{"fr":{"name":"Syndrome lymphoprolifératif auto-immun","synonyms":["ALPS","SLAI","Syndrome de Canale-Smith","Syndrome lymphoprolifératif avec auto-immunité"],"definition":"Le syndrome lymphoprolifératif auto-immun (SLAI, <i>ALPS</i> en anglais) est une anomalie rare héréditaire caractérisée par une lymphoprolifération non maligne, une cytopénie multilignée, et un risque accru tout au long de la vie de développer un lymphome Hodgkinien ou non-Hodgkinien."},"de":{"name":"Autoimmun-lymphoproliferatives Syndrom","synonyms":["ALPS","Canale-Smith-Syndrom","FAS-Mangel"]},"es":{"name":"Síndrome linfoproliferativo autoinmune","synonyms":["ALPS","Síndrome de Canale-Smith"],"definition":"Es un trastorno hereditario poco frecuente caracterizado por linfoproliferación no maligna, citopenia en varios linajes celulares y un riesgo de por vida aumentado de desarrollar linfoma de Hodgkin y no Hodgkin."},"it":{"name":"Sindrome linfoproliferativa autoimmune","synonyms":["ALPS","Sindrome di Canale-Smith"]},"nl":{"name":"Auto-immuun lymfoproliferatief syndroom","synonyms":["ALPS","Syndroom van Canale-Smith"],"definition":"Een zeldzame, erfelijke aandoening, gekarakteriseerd door niet-maligne lymfoproliferatie, multilineaire cytopenieën, en een levenslang verhoogd risico op Hodgkin- en non-Hodgkinlymfoom."},"pt":{"name":"Síndrome linfoproliferativo autoimune","synonyms":["ALPS","Síndrome Canale-Smith"],"definition":"Uma doença rara e hereditária caracterizada por linfoproliferação não maligna, citopenias multilineares e um risco aumentado ao longo da vida de linfoma Hodgkin e não Hodgkin."},"pl":{"name":"Autoimmunizacyjny zespół limfoproliferacyjny","synonyms":["ALPS","Niedobór FAS","Zespół Canale'a i Smitha"]},"cs":{"name":"Autoimunitní lymfoproliferativní syndrom","synonyms":["ALPS","FAS deficit","Canaleův-Smithův syndrom","Canale-Smithův syndrom"]},"uk":{"name":"Аутоімунний лімфопроліферативний синдром","synonyms":["ALPS","Синдром Канале-Сміта"],"definition":"A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma."},"zh":{"name":"自身免疫淋巴增生综合征","synonyms":["Canale-Smith 综合征"]},"tr":{"name":"Otoimmün lenfoproliferatif sendrom","synonyms":["ALPLER","Canale-Smith sendromu"]}},"xrefs":[{"source":"OMIM","code":"601859","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"603909","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618534","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D47.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.22","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1072688797"},{"source":"MONDO","code":"0017979","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056735","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1328840","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8686","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069521","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":169355,"name":"Immunodeficiency syndrome with autoimmunity","classifications":[156,195,233]},{"orpha":664450,"name":"Inherited cancer-predisposing lymphoproliferative syndrome","classifications":[156,202]},{"orpha":171898,"name":"Lymphoid hemopathy","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"CASP10","name":"caspase 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301287[PMID]_10412980[PMID]_17999750[PMID]","hgnc":"1500","ensembl":"ENSG00000003400","omim":"601762","loci":["2q33.1"]},{"symbol":"FAS","name":"Fas cell surface death receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22983577[PMID]_21885602[PMID]_20301287[PMID]","hgnc":"11920","ensembl":"ENSG00000026103","omim":"134637","loci":["10q23.31"]},{"symbol":"FASLG","name":"Fas ligand","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301287[PMID]_16627752[PMID]_17605793[PMID]","hgnc":"11936","ensembl":"ENSG00000117560","omim":"134638","loci":["1q24.3"]},{"symbol":"FAS","name":"Fas cell surface death receptor","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22983577[PMID]_21885602[PMID]_20301287[PMID]","hgnc":"11920","ensembl":"ENSG00000026103","omim":"134637","loci":["10q23.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":500.0,"area":"Worldwide","status":"Validated","source":"20538792[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20538792[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-29","source":"15767081[PMID]_11418480[PMID]_9028957[PMID]_8929361[PMID]_7540117[PMID]_1386609[PMID]_4165068[PMID]_20301287[PMID]_30958694[PMID]","terms":[{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002730","label":"Chronic noninfectious lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011117","label":"Abnormal circulating interleukin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030886","label":"Abnormal lymphocyte apoptosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001890","label":"Autoimmune hemolytic anemia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002851","label":"Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001971","label":"Hypersplenism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005404","label":"Increased B cell count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003237","label":"Increased circulating IgG level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0033199","label":"Increased circulating interleukin 10 concentration","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001904","label":"Neutropenia in presence of anti-neutropil antibodies","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031392","label":"Abnormal proportion of CD4 T cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031393","label":"Abnormal proportion of CD8 T cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040126","label":"Abnormal vitamin B12 level","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003453","label":"Antineutrophil antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003613","label":"Antiphospholipid antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012191","label":"B-cell lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030080","label":"Burkitt lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004844","label":"Coombs-positive hemolytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004315","label":"Decreased circulating IgG level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002850","label":"Decreased circulating total IgM","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032218","label":"Decreased proportion of CD4-positive T cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000017","label":"Elevated circulating soluble FASL concentration","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:6000016","label":"Elevated circulating vitamin B12 concentration","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000099","label":"Glomerulonephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012189","label":"Hodgkin lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003261","label":"Increased circulating IgA level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034447","label":"Increased circulating interleukin 18 concentration","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100827","label":"Lymphocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012539","label":"Non-Hodgkin lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002923","label":"Rheumatoid factor positive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002848","label":"Specific anti-polysaccharide antibody deficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012190","label":"T-cell lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100646","label":"Thyroiditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031020","label":"Bone marrow hypercellularity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002583","label":"Colitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010619","label":"Fibroadenoma of the breast","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005263","label":"Gastritis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100648","label":"Neoplasm of the tongue","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012490","label":"Panniculitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002113","label":"Pulmonary infiltrates","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011107","label":"Recurrent aphthous stomatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000854","label":"Thyroid adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002890","label":"Thyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Very rare (<4-1%)","criteria":null}]}}