{"orpha":37042,"name":"Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autoimmune enteropathy type 1","IPEX"],"definition":"A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-37042/","orphanet_url":"https://www.orpha.net/en/disease/detail/37042","names":{"fr":{"name":"Syndrome de dérèglement immunitaire-polyendocrinopathie-entéropathie lié à l'X","synonyms":["Entéropathie auto-immune de type 1","IPEX"],"definition":"Maladie rare avec dérèglement et déficit immunitaire caractérisée par une diarrhée réfractaire, des endocrinopathies, une atteinte cutanée et des infections."},"de":{"name":"Immundysregulation-Polyendokrinopathie-Enteropathie-Syndrom, X-chromosomales","synonyms":["Enteropathie, autoimmune, Typ 1","IPEX"],"definition":"Eine seltene immunregulatorische Störung, die durch refraktäre Diarrhöe, Endokrinopathien, Hautbeteiligung und Infektionen gekennzeichnet ist."},"es":{"name":"Síndrome de inmunodesregulación-poliendocrinopatía-enteropatía ligada al cromosoma X","synonyms":["Enteropatía autoinmune tipo 1","IPEX"],"definition":"Es una enfermedad inmunodesreguladora poco frecuente caracterizada por diarrea refractaria, endocrinopatías, afectación cutánea e infecciones."},"it":{"name":"Sindrome disregolazione immunitaria-poliendocrinopatia-enteropatia legata all'X","synonyms":["Enteropatia autoimmune, tipo 1","IPEX"],"definition":"La sindrome disregolazione immunitaria-poliendocrinopatia-enteropatia legata all'X (IPEX) è una malattia rara da disregolazione immunitaria, caratterizzata da diarrea refrattaria, endocrinopatie, interessamento cutaneo e infezioni."},"nl":{"name":"X-gebonden immuundisregulatie - polyendocrinopathie - enteropathie-syndroom","synonyms":["Auto-immune enteropathie type 1","IPEX"],"definition":"Een zeldzame ziekte met immuundisregulatie, gekarakteriseerd door refractaire diarree, endocrinopathieën, cutane betrokkenheid, en infecties."},"pt":{"name":"Síndrome de imunodesregulação-poliendocrinopatia-enteropatia ligada ao X","synonyms":["IPEX"]},"pl":{"name":"Zespół dysregulacja immunologiczna - poliendokrynopatia - enteropatia sprzężony z chromosomem X","synonyms":["Autoimmunologiczna enteropatia typu 1","IPEX"]},"cs":{"name":"Syndrom zahrnující imunitní dysregulaci, polyendokrinopatii a enteropatii vázanou na chromozom X","synonyms":["Autoimunitní enteropatie, typ 1","IPEX"]},"uk":{"name":"Х-зчеплений синдром імунної дисрегуляції-поліендокринопатії-ентеропатії","synonyms":["Аутоімунна ентеропатія типу 1","IPEX"],"definition":"A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections."},"zh":{"name":"x连锁多内分泌腺病肠病伴免疫失调综合征","synonyms":["自身免疫性肠病1型"]},"tr":{"name":"Bağışıklık düzensizliği-poliendokrinopati-enteropati-X'e bağlı sendrom","synonyms":["IPEX","Otoimmün enteropati tip 1"]}},"xrefs":[{"source":"OMIM","code":"304790","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E31.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1060287444"},{"source":"MONDO","code":"0010580","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C580192","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342288","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1850","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080631","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183643,"name":"Genetic polyendocrinopathy","classifications":[156]},{"orpha":529974,"name":"Immune dysregulation with inflammatory bowel disease","classifications":[152,156,195,233]},{"orpha":169355,"name":"Immunodeficiency syndrome with autoimmunity","classifications":[156,195,233]},{"orpha":101956,"name":"Polyendocrinopathy","classifications":[193]},{"orpha":522043,"name":"Syndromic autoimmune enteropathy","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"FOXP3","name":"forkhead box P3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11137993[PMID]","hgnc":"6106","ensembl":"ENSG00000049768","omim":"300292","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":195.0,"area":"Worldwide","status":"Validated","source":"32234571[PMID]"},{"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":"2019-05-23","source":"30805323[PMID]_24240290[PMID]_20301297[PMID]","terms":[{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003111","label":"Abnormal blood ion concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002242","label":"Abnormal intestine morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012393","label":"Allergy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025379","label":"Anti-thyroid peroxidase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007473","label":"Crusting erythematous dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011123","label":"Inflammatory abnormality of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031401","label":"Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005208","label":"Secretory diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100646","label":"Thyroiditis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030909","label":"Anti-liver cytosolic antigen type 1 antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001890","label":"Autoimmune hemolytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031085","label":"Decreased circulating prealbumin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002917","label":"Hypomagnesemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031104","label":"Insulin receptor antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006515","label":"Interstitial pneumonitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012578","label":"Membranous nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001904","label":"Neutropenia in presence of anti-neutropil antibodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003765","label":"Psoriasiform dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031123","label":"Recurrent gastroenteritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001970","label":"Tubulointerstitial nephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002583","label":"Colitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025156","label":"Dependency on intravenous nutrition","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005263","label":"Gastritis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000836","label":"Hyperthyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002595","label":"Ileus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very rare (<4-1%)","criteria":null}]}}