{"orpha":228426,"name":"Syndromic multisystem autoimmune disease due to Itch deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228426/","orphanet_url":"https://www.orpha.net/en/disease/detail/228426","names":{"fr":{"name":"Maladie auto-immune multisystémique syndromique par déficit en Itch","definition":"Maladie systémique auto-immune rare d'origine génétique caractérisée par un retard de croissance, un retard global de développement, une dysmorphie craniofaciale typique (macrocéphalie relative, dolichocéphalie, front proéminent, exophtalmie, étage moyen du visage aplati et occiput proéminent, oreilles implantées bas et orientées vers l'arrière, micrognatie), hépatomégalie et/ou splénomégalie, et maladie auto-immune multisystémique affectant les poumons, le foie, l'intestin et/ou la glande thyroïde."},"de":{"name":"Autoimmunkrankheit, multisystemische syndromale, durch Itch-Mangel"},"es":{"name":"Enfermedad autoinmune multisistémica sindrómica por deficiencia de Itch","definition":"La enfermedad autoinmune multisistémica sindrómica por deficiencia de Itch es una enfermedad autoinmune sistémica, genética y poco frecuente, caracterizada por fallo de medro, retraso global del desarrollo, dismorfia craneofacial distintiva (macrocefalia relativa, dolicocefalia, frente prominente, proptosis orbital, aplanamiento de la cara con occipucio prominente, orejas de implantación baja rotadas posteriormente, micrognacia), hepato- y/o esplenomegalia, y enfermedad autoinmune multisistémica que afecta a los pulmones, hígado, intestino y/o glándula tiroides."},"it":{"name":"Malattia multisistemica autoimmunitaria sindromica da deficit di Itch","definition":"La malattia multisistemica autoimmunitaria sindromica da deficit di Itch è una malattia genetica rara, sistemica autoimmune, caratterizzata da ritardo della crescita e dello sviluppo globale, dismorfismi craniofacciali caratteristici (macrocefalia relativa, dolicocefalia, fronte bombata, proptosi delle orbite, appiattimento della porzione media del viso con occipite prominente, orecchie a basso impianto ruotate posteriormente, micrognazia), epato- e/o splenomegalia e malattia autoimmune multisistemica con interessamento polmonare, epatico, intestinale e/o tiroideo."},"nl":{"name":"Syndromale multisystemische auto-immuunziekte door Itch-deficiëntie","definition":"Syndromale multisystemische auto-immuunziekte door Itch-deficiëntie is een zeldzame, genetische, systemische auto-immuunziekte die gekarakteriseerd wordt door groeiachterstand, algehele ontwikkelingsachterstand, typische craniofaciale dysmorfie (relatieve macrocefalie, dolichocefalie, boller voorhoofd, proptosis, plat middengezicht met uitgesproken achterhoofd, laagstaande en naar achteren gedraaide oren, micrognathie), hepato- en/of splenomegalie, en multisystemische auto-immuunziekte met betrokkenheid van longen, lever, maag en/of schildklier."},"pt":{"name":"Doença autoimune multissistémica sindromática por deficiência no Itch"},"pl":{"name":"Syndromiczna wieloukładowa choroba autoimmunologiczna z powodu niedoboru Itch","definition":"*Syndromiczna wieloukładowa choroba autoimmunologiczna z powodu niedoboru Itch jest rzadką, genetycznie uwarunkowaną, układową chorobą autoimmunologiczną, która charakteryzuje się brakiem prawidłowego wzrastania, całościowym opóźnieniem rozwoju, specyficzną dysmorfią twarzoczaszki (względne wielkogłowie, dolichocefalia, wypukłe czoło, wytrzeszcz oczu w wyniku spłaszczenia oczodołu, płaska środkowa część twarzy z wydatną potylicą, uszy zrotowane ku tyłowi, mikrognacja), powiększeniem wątroby i/lub śledziony oraz wieloukładową chorobą autoimmunologiczną, obejmującą płuca, wątrobę, jelita i/lub tarczycę."},"cs":{"name":"Syndromická multisystémová autoimunitní choroba způsobená deficitem Itch"},"uk":{"name":"Синдромальне мультисистемне аутоімунне захворювання, зумовлене Itch дефіцитом","definition":"A rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland."},"zh":{"name":"ITCH基因缺陷所致综合征性多系统自身免疫病","definition":"多系统自身免疫性综合征Itch缺乏型是一种罕见的遗传性全身性自身免疫性疾病，其特征是体重增长不良、全面性发育迟缓、局限性颅面畸形（相对巨头畸形、长头畸形、额骨突出、眼眶突出、面中部扁平、枕骨突出、耳朵后旋、小颌畸形）、肝和/或脾肿大，以及累及肺、肝、肠道和/或甲状腺的多系统自身免疫性疾病。"},"tr":{"name":"ITCH eksikliğine bağlı sendromik multisistem otoimmün hastalığı"}},"xrefs":[{"source":"OMIM","code":"613385","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A43.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1970749000"},{"source":"MONDO","code":"0013245","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755273","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10775","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":169355,"name":"Immunodeficiency syndrome with autoimmunity","classifications":[156,195,233]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":156610,"name":"Rare genetic respiratory disease","classifications":[156]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]},{"orpha":522043,"name":"Syndromic autoimmune enteropathy","classifications":[152,156,233]},{"orpha":182228,"name":"Systemic autoimmune disease","classifications":[196]}],"children":[],"genes":[{"symbol":"ITCH","name":"itchy E3 ubiquitin protein ligase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20170897[PMID]","hgnc":"13890","ensembl":"ENSG00000078747","omim":"606409","loci":["20q11.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"20170897[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20170897[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-01","source":"30705142[PMID]_20170897[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006528","label":"Chronic lung disease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025379","label":"Anti-thyroid peroxidase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001971","label":"Hypersplenism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100646","label":"Thyroiditis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002242","label":"Abnormal intestine morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006554","label":"Acute hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025329","label":"Anti-glutamic acid decarboxylase antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003453","label":"Antineutrophil antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030151","label":"Cholangitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031104","label":"Insulin receptor antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","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:0001876","label":"Pancytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003262","label":"Smooth muscle antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null}]}}