{"orpha":391366,"name":"Growth retardation-mild developmental delay-chronic hepatitis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391366/","orphanet_url":"https://www.orpha.net/en/disease/detail/391366","names":{"fr":{"name":"Syndrome de retard de croissance-retard de développement modéré-hépatite chronique","definition":"Maladie rare du parenchyme hépatique, d'origine hépatique, caractérisée par un retard de croissance pré- et post-natal, un léger retard de développement global, une hépatite chronique avec hépatosplénomégalie, une thyroïdite de Hashimoto, une thrombocytopénie, une anémie et une leucémie aiguë lymphoblastique à précurseurs B."},"de":{"name":"Wachstumsstörung-milde Entwicklungsverzögerung-chronische Hepatitis-Syndrom"},"es":{"name":"Síndrome de retraso del crecimiento-retraso del desarrollo leve-hepatitis crónica","definition":"El síndrome de retraso del crecimiento - retraso del desarrollo leve - hepatitis crónica es una enfermedad hepática parenquimatosa, genética y poco frecuente, caracterizada por retraso del crecimiento pre- y postnatal, leve retraso global del desarrollo, hepatitis crónica con hepatoesplenomegalia, tiroiditis de Hashimoto, trombocitopenia, anemia y leucemia linfoblástica aguda de precursores B."},"it":{"name":"Sindrome da ritardo della crescita, lieve ritardo dello sviluppo, epatite cronica","definition":"La sindrome che associa il ritardo della crescita, il lieve ritardo dello sviluppo e l'epatite cronica è una malattia genetica rara del parenchima epatico, caratterizzata da ritardo della crescita pre- e post-natale, lieve ritardo dello sviluppo globale, epatite cronica con epatosplenomegalia, tiroidite di Hashimoto, trombocitopenia, anemia e leucemia linfoblastica acuta da precursori delle cellule B."},"nl":{"name":"Groeiretardatie - milde ontwikkelingsachterstand - chronische hepatitis-syndroom","definition":"Groeiretardatie - milde ontwikkelingsachterstand - chronische hepatitis-syndroom is een zeldzame, genetische, parenchymateuze leverziekte die gekarakteriseerd wordt door pre- en postnatale groeiretardatie, milde algehele ontwikkelingsachterstand, chronische hepatitis met hepatosplenomegalie, Hashimoto-thyreoïditis, trombocytopenie, anemie, en precursor-B-cel acute lymfoblastische leukemie."},"pt":{"name":"Síndrome de atraso de crescimento-atraso do desenvolvimento ligeira-hepatite crónica"},"pl":{"name":"Zespół opóźnienie wzrostu-łagodne opóźnienie rozwoju-przewlekłe zapalenie wątroby","definition":"*Zespół opóźnienie wzrostu-łagodne opóźnienie rozwoju-przewlekłe zapalenie wątroby jest rzadką, genetycznie uwarunkowaną chorobą miąższu wątroby, która charakteryzuje się przed- i pourodzeniowym opóźnieniem wzrastania, łagodnym całościowym opóźnieniem rozwoju, przewlekłym zapaleniem wątroby z powiększeniem wątroby i śledziony, zapaleniem tarczycy Hashimoto, małopłytkowością, niedokrwistością i ostrą białaczką limfoblastyczną z prekursorowych limfocytów linii B."},"cs":{"name":"Syndrom zahrnující růstovou retardaci, mírné opoždění vývoje a chronickou hepatitidu"},"uk":{"name":"Синдром затримки росту-легкої затримки розвитку-хронічного гепатиту","definition":"Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia."},"zh":{"name":"生长滞后-轻度发育迟缓-慢性肝炎综合征","definition":"生长迟缓-轻度发育迟缓-慢性肝炎综合征是一种罕见的遗传性实质性肝病，其特征是出生前和出生后生长迟缓、轻度全面发育迟缓、慢性肝炎合并肝脾肿大、桥本甲状腺炎、血小板减少、贫血和B前体急性淋巴细胞白血病。"},"tr":{"name":"Büyüme geriliği-hafif gelişme geriliği-kronik hepatit sendromu"}},"xrefs":[{"source":"ICD-10","code":"K73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DB97.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018317","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751595","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":156604,"name":"Genetic parenchymatous liver disease","classifications":[156]},{"orpha":101939,"name":"Rare parenchymal liver disease","classifications":[183]}],"children":[],"genes":[{"symbol":"SH2B3","name":"SH2B adaptor protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23908464[PMID]","hgnc":"29605","ensembl":"ENSG00000111252","omim":"605093","loci":["12q24.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23908464[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}