{"orpha":79124,"name":"Hepatic veno-occlusive disease-immunodeficiency syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["VODI syndrome"],"definition":"A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79124/","orphanet_url":"https://www.orpha.net/en/disease/detail/79124","names":{"fr":{"name":"Syndrome de maladie veino-occlusive hépatique-déficit immunitaire","synonyms":["Syndrome de maladie veino-occlusive hépatique-immunodéficience"],"definition":"Le syndrome de maladie veino-occlusive hépatique-immunodéficience associe une hypogammaglobulinémie sévère, une immunodéficience T-B, une absence de noyaux germinaux des ganglions lymphatiques, une absence de cellules plasmatiques tissulaires et une maladie veino-occlusive du foie."},"de":{"name":"Lebervenen-Verschlusskrankheit - Immunschwäche","synonyms":["VODI-Syndrom"],"definition":"Ein seltenes kombiniertes Immundefektsyndrom, das durch eine Kombination von schwerer Hypogammaglobulinämie, kombinierter T- und B-Zell-Immundefizienz, Fehlen von Lymphknotenkeimzentren, Fehlen von Gewebeplasmazellen und hepatischer Venenverschlusskrankheit gekennzeichnet ist."},"es":{"name":"Síndrome de enfermedad hepática veno-oclusiva-inmunodeficiencia","definition":"Es un síndrome poco precuente de inmunodeficiencia combinada caracterizado por la asociación de hipogammaglobulinemia grave, inmunodeficiencia combinada de células T y B, ausencia de los centros germinales en folículos linfoides, ausencia de células plasmáticas en tejidos y enfermedad venooclusiva hepática."},"it":{"name":"Occlusione della vena epatica - immunodeficienza","synonyms":["Sindrome VODI"]},"nl":{"name":"Hepatische veno-occlusieve ziekte - immuundeficiëntie-syndroom","synonyms":["VODI-syndroom"],"definition":"Een zeldzaam syndroom met gecombineerde immuundeficiëntie, gekarakteriseerd door de associatie van ernstige hypogammaglobulinemie, gecombineerde T- en B-cel-immuundeficiëntie, afwezige kiemcentra van lymfeklieren, afwezigheid van plasmacellen in weefsel, en veno-occlusieve ziekte van lever."},"pt":{"name":"Doença veno-oclusiva hepática-síndrome de imunodeficiência"},"pl":{"name":"Choroba zarostowa żył wątrobowych - Niedobór odporności","synonyms":["Zespół VODI"]},"cs":{"name":"Syndrom zahrnující hepatální venookluzivní chorobu a imunodeficienci","synonyms":["VODI syndrom"]},"uk":{"name":"Синдром венооклюзивної хвороби печінки-імунодефіциту","synonyms":["VODI-синдром"],"definition":"A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease."},"zh":{"name":"肝静脉闭塞性疾病-免疫缺陷综合征","synonyms":["VODL综合征"]},"tr":{"name":"Hepatik veno-tıkayıcı hastalık-immün yetmezlik sendromu","synonyms":["VODI sendromu"]}},"xrefs":[{"source":"OMIM","code":"235550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K76.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.33","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"712514250"},{"source":"MONDO","code":"0009338","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510630","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10083","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":156601,"name":"Rare genetic hepatic disease","classifications":[156]},{"orpha":101938,"name":"Rare vascular liver disease","classifications":[183]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"SP110","name":"SP110 nuclear body protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16648851[PMID]","hgnc":"5401","ensembl":"ENSG00000135899","omim":"604457","loci":["2q37.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":28.0,"area":"Worldwide","status":"Validated","source":"20301448[PMID]_22621957[PMID]_16648851[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301448[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-18","source":"20301448[PMID]_17510920[PMID]_22621957[PMID]","terms":[{"hpo":"HP:0011117","label":"Abnormal circulating interleukin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040088","label":"Abnormal lymphocyte count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030355","label":"Abnormal serum interferon-gamma level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003139","label":"Panhypogammaglobulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002849","label":"Absence of lymph node germinal center","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030374","label":"Decreased proportion of memory B cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005403","label":"Decreased total T cell count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002743","label":"Recurrent enteroviral infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031123","label":"Recurrent gastroenteritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004429","label":"Recurrent viral infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100626","label":"Chronic hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002728","label":"Chronic mucocutaneous candidiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031218","label":"Inappropriate antidiuretic hormone secretion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002415","label":"Leukodystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002385","label":"Paraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010550","label":"Paraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040223","label":"Pulmonary hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002722","label":"Recurrent abscess formation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002100","label":"Recurrent aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410018","label":"Recurrent ear infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040089","label":"Abnormal natural killer cell count","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null}]}}