{"orpha":39041,"name":"Omenn syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Combined immunodeficiency with hypereosinophilia"],"definition":"Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-39041/","orphanet_url":"https://www.orpha.net/en/disease/detail/39041","names":{"fr":{"name":"Syndrome d'Omenn","synonyms":["Déficit immunitaire combiné avec hyperéosinophilie"],"definition":"Le syndrome d'Omenn est un trouble inflammatoire caractérisé par une érythrodermie, une desquamation, une alopécie, des diarrhées chroniques, un retard de croissance staturo-pondérale, adénopathies, et une hépatosplénomégalie, associés à un déficit immunitaire combiné sévère."},"de":{"name":"Omenn-Syndrom","synonyms":["Immundefekt, kombinierter schwerer - Hypereosinophilie"],"definition":"Das Omenn-Syndrom (OS) ist eine entzündliche Erkrankung mit Erythrodermie, Schuppung, Alopezie, chronischer Diarrhoe, Gedeihstörung, Lymphadenopathie und Hepatosplenomegalie in Verbindung mit schwerem kombiniertem Immundefekt (SCID; s. dort)."},"es":{"name":"Síndrome de Omenn","synonyms":["Inmunodeficiencia combinada con hipereosinofilia"],"definition":"El síndrome de Omenn (OS) es una enfermedad inflamatoria caracterizada por: eritrodermia, descamación, alopecia, diarrea crónica, retraso en el crecimiento, linfadenopatía, y hepatoesplenomegalia, asociados a una inmunodeficiencia combinada grave (IDCS); ver término)."},"it":{"name":"Sindrome di Omenn","synonyms":["Immunodeficienza combinata con ipereosinofilia"],"definition":"La sindrome di Omenn (OS) è una malattia infiammatoria con eritrodermia, desquamazione, alopecia, diarrea cronica, ritardo della crescita, linfadenopatia ed epatosplenomegalia, associata a immunodeficienza combinata grave (SCID; si veda questo termine)."},"nl":{"name":"Syndroom van Omenn","synonyms":["Gecombineerde immuundeficiëntie met hypereosinofilie"],"definition":"Syndroom van Omenn (OS) is een inflammatoire aandoening die gekenmerkt wordt door erytrodermie, desquamatie, alopecia, chronische diarree, slecht gedijen, lymfadenopathie en hepatosplenomegalie, geassocieerd met ernstige gecombineerde immuundeficiëntie (SCID; zie deze term)."},"pt":{"name":"Síndrome Omenn","synonyms":["Imunodeficiência combinada com hipereosinofilia"]},"pl":{"name":"Zespół Omenna","synonyms":["Złożony Niedobór odporności z hipereozynofilią"]},"cs":{"name":"Omennův syndrom","synonyms":["Kombinovaná imunodeficience s hypereosinofilií"]},"uk":{"name":"Синдром Оменна","synonyms":["Комбінований імунодефіцит з гіпереозинофілією"],"definition":"Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)."},"zh":{"name":"Omenn综合征","synonyms":["免疫缺陷合并嗜酸性粒细胞增多"]},"tr":{"name":"Omenn sendromu","synonyms":["Hipereozinofili ile seyreden kombine immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"603554","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620807","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1770823271"},{"source":"MONDO","code":"0011338","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2700553","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8198","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069097","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":695164,"name":"Combined immunodeficiency with low B cells and hypogammaglobulinemia","classifications":[156,195,233]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"ADA","name":"adenosine deaminase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"186","ensembl":"ENSG00000196839","omim":"608958","loci":["20q13.12"]},{"symbol":"CHD7","name":"chromodomain helicase DNA binding protein 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"20626","ensembl":"ENSG00000171316","omim":"608892","loci":["8q12.2"]},{"symbol":"DCLRE1C","name":"DNA cross-link repair 1C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"17642","ensembl":"ENSG00000152457","omim":"605988","loci":["10p13"]},{"symbol":"IL2RG","name":"interleukin 2 receptor subunit gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6010","ensembl":"ENSG00000147168","omim":"308380","loci":["Xq13.1"]},{"symbol":"IL7R","name":"interleukin 7 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6024","ensembl":"ENSG00000168685","omim":"146661","loci":["5p13.2"]},{"symbol":"NUDCD3","name":"NudC domain containing 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38787962[PMID]","hgnc":"22208","ensembl":"ENSG00000015676","omim":"610296","loci":["7p13"]},{"symbol":"PSMB10","name":"proteasome 20S subunit beta 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38503300[PMID]","hgnc":"9538","ensembl":"ENSG00000205220","omim":"176847","loci":["16q22.1"]},{"symbol":"RAG1","name":"recombination activating 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9831","ensembl":"ENSG00000166349","omim":"179615","loci":["11p12"]},{"symbol":"RAG2","name":"recombination activating 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9832","ensembl":"ENSG00000175097","omim":"179616","loci":["11p12"]},{"symbol":"RMRP","name":"RNA component of mitochondrial RNA processing endoribonuclease","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10031","ensembl":"ENSG00000277027","omim":"157660","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004332","label":"Abnormal lymphocyte morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001019","label":"Erythroderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004430","label":"Severe combined immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007549","label":"Desquamation of skin soon after birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100646","label":"Thyroiditis","frequency":"Occasional (29-5%)","criteria":null}]}}