{"orpha":391487,"name":"STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391487/","orphanet_url":"https://www.orpha.net/en/disease/detail/391487","names":{"fr":{"name":"Syndrome d'entéropathie et endocrinopathie auto-immunes-susceptibilité aux infections chroniques associé à STAT1","definition":"Maladie immunologique autosomique dominante extrêmement rare caractérisée par une entéropathie variable, des troubles endocriniens (diabète sucré de type&nbsp;1, hypothyroïdie), un dérèglement immunitaire avec des infections bactériennes pulmonaires et sanguines, et des infections fongiques (candidose cutanéo-muqueuse chronique) se développant pendant la petite enfance. Les autres manifestations sont une petite taille, un eczéma, une hépatosplénomégalie, une puberté tardive et une ostéoporose/ostéopénie."},"de":{"name":"STAT1-assoziierte autoimmune Enteropathie und Endokrinopathie-Empfänglichkeit für chronische Infektionen-Syndrom"},"es":{"name":"Síndrome de enteropatía autoinmune y endocrinopatía-susceptibilidad a infecciones crónicas asociado a STAT1","definition":"Es un trastorno inmunológico autosómico dominante extremadamente infrecuente caracterizado por enteropatía variable, trastornos endocrinos (tales como diabetes mellitus tipo 1, hipotiroidismo), disregulación inmunológica con infecciones pulmonares bacterianas y de transmisión sanguínea, e infecciones fúngicas (candidiasis crónica mucocutánea) que se desarrollan en la lactancia. Otros hallazgos incluyen talla baja, eczema, hepatoesplenomegalia, retraso puberal, y osteoporosis/ osteopenia."},"it":{"name":"Sindrome enteropatia ed endocrinopatia autoimmuni-predisposizione alle infezioni croniche correlata a STAT1","definition":"La sindrome da enteropatia ed endocrinopatia autoimmuni con suscettibilità alle infezioni croniche è una malattia immunologica autosomica dominante molto rara, caratterizzata da enteropatia variabile, anomalie endocrine (diabete mellito di tipo 1, ipotiroidismo), alterazioni immunologiche associate ad infezioni batteriche polmonari e trasmissibili per via ematica ed infezioni micotiche (candidiasi moco-cutanea cronica) ad insorgenza nell'infanzia. Possono essere presenti bassa statura, eczema, epatosplenomegalia, ritardo nella pubertà e l'osteoporosi/osteopenia."},"nl":{"name":"STAT1-gerelateerde auto-immune enteropathie en endocrinopathie - susceptibiliteit voor chronische infecties-syndroom","definition":"Een uiterst zeldzame, autosomaal dominante immunologische aandoening, gekarakteriseerd door variabele enteropathie, endocriene aandoeningen (e.g. diabetes mellitus type 1, hypothyreoïdie), ontregeling van het immuunsysteem met pulmonale en door bloed overgedragen bacteriële infecties, en schimmelinfecties (chronische mucocutane candidiasis) die zich ontwikkelen in de zuigelingentijd. Andere manifestaties zijn onder meer kleine gestalte, eczeem, hepatosplenomegalie, uitgestelde puberteit, en osteoporose/osteopenie."},"pt":{"name":"Síndrome de enteropatia e endocrinopatia autoimune-suscetibilidade a infeções crónicas STAT1-relacionada"},"pl":{"name":"Zespół enteropatii autoimmunologicznej i endokrynopatii związanej ze STAT1"},"cs":{"name":"Syndrom zahrnující autoimunitní enteropatii a endokrinopatii a náchylnost k chronickým infekcím"},"uk":{"name":"Синдром STAT1-повязаної аутоімунної ентеропатії та ендокринопатії-схильності до хронічних інфекцій","definition":"An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia."},"zh":{"name":"自身免疫性肠病和内分泌疾病-慢性感染易感综合征","definition":"本病是一种极其罕见的常染色体显性免疫疾病，特征是可变的肠病、内分泌紊乱(如1型糖尿病、甲状腺功能减退症)、免疫失调、肺部和血型播散的细菌感染，以及在婴儿期发展起来的真菌感染(慢性皮肤粘膜念珠菌病)。本病的其他表现包括身材矮小、湿疹、肝脾肿大、青春期延迟和骨质疏松/骨量减少。"},"tr":{"name":"Otoimmün enteropati ve endokrinopati-kronik enfeksiyon sendromuna yatkınlık"}},"xrefs":[{"source":"OMIM","code":"614162","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013599","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925149","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12314","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":183710,"name":"Genetic susceptibility to infections due to particular pathogens","classifications":[156,195]},{"orpha":169355,"name":"Immunodeficiency syndrome with autoimmunity","classifications":[156,195,233]},{"orpha":664450,"name":"Inherited cancer-predisposing lymphoproliferative syndrome","classifications":[156,202]},{"orpha":101956,"name":"Polyendocrinopathy","classifications":[193]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":522043,"name":"Syndromic autoimmune enteropathy","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"STAT1","name":"signal transducer and activator of transcription 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23534974[PMID]","hgnc":"11362","ensembl":"ENSG00000115415","omim":"600555","loci":["2q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"23534974[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_23534974[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-04-25","source":"21714643[PMID]_23541320[PMID]_23534974[PMID]","terms":[{"hpo":"HP:0002242","label":"Abnormal intestine morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002728","label":"Chronic mucocutaneous candidiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000009","label":"Functional abnormality of the bladder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001890","label":"Autoimmune hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012163","label":"Carotid artery dilatation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010976","label":"Decreased total B cell count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004944","label":"Dilatation of the cerebral artery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004387","label":"Enterocolitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040160","label":"Generalized osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002958","label":"Immune dysregulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011123","label":"Inflammatory abnormality of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000832","label":"Primary hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005353","label":"Recurrent herpes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001920","label":"Renal artery stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100817","label":"Renovascular hypertension","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:0011473","label":"Villous atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030355","label":"Abnormal serum interferon-gamma level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003613","label":"Antiphospholipid antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011459","label":"Esophageal carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002383","label":"Infectious encephalitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004966","label":"Medial calcification of large arteries","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:0012182","label":"Oropharyngeal squamous cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002724","label":"Recurrent Aspergillus infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005403","label":"Decreased total T cell count","frequency":"Excluded (0%)","criteria":null}]}}