{"orpha":1667,"name":"Wolcott-Rallison syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Early-onset diabetes mellitus with multiple epiphyseal dysplasia","WRS"],"definition":"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1667/","orphanet_url":"https://www.orpha.net/en/disease/detail/1667","names":{"fr":{"name":"Syndrome de Wolcott-Rallison","synonyms":["Diabète précoce et dysplasie épiphysaire multiple","WRS"],"definition":"Le syndrome de Wolcott-Rallison est une maladie génétique très rare, associant un diabète néonatal permanent (DNP), une dysplasie épiphysaire multiple et d'autres manifestations dont des épisodes d'insuffisance hépatique aiguë."},"de":{"name":"Wolcott-Rallison-Syndrom","synonyms":["Multiple epiphysäre Dysplasie - früh einsetzender Diabetes"],"definition":"Das Wolcott-Rallison-Syndrom (WRS) ist gekennzeichnet durch permanenten neonatalen Diabetes mellitus (PNDM) mit multipler epiphysärer Dysplasie und anderen klinischen Symptomen, darunter rezidivierende Episoden von akuter Leberinsuffizienz."},"es":{"name":"Síndrome de Wolcott-Rallison","synonyms":["Diabetes mellitus de inicio precoz con displasia epifisaria múltiple","WRS"],"definition":"El síndrome de Wolcott-Rallison es una enfermedad genética muy rara, que asocia diabetes neonatal permanente (DNP), displasia epifisaria múltiple y otras manifestaciones que incluyen episodios recurrentes de insuficiencia hepática aguda."},"it":{"name":"Sindrome di Wolcott-Rallison","synonyms":["Diabete mellito a esordio precoce - displasia epifisaria multipla","WRS"]},"nl":{"name":"Syndroom van Wolcott-Rallison","synonyms":["Vroeg optredende diabetes mellitus met multipele epifysaire dysplasie","WRS"],"definition":"Een zeer zeldzame genetische aandoening, gekenmerkt door permanente neonatale diabetes mellitus (PNDM) met multipele epifysaire dysplasie en andere klinische manifestaties, waaronder recidiverende episodes van acuut leverfalen."},"pt":{"name":"Síndrome Wolcott-Rallison","synonyms":["Displasia epifisária múltipla com diabetes mellitus precoce"],"definition":"A síndrome de Wolcott-Rallison (WRS) é uma doença genética muito rara, caracterizada por diabetes mellitus neonatal permanente (PNDM) com displasia epifisária múltipla e outras manifestações clínicas, incluindo episódios recorrentes de insuficiência hepática aguda."},"pl":{"name":"Zespół Wolcotta i Rallisona","synonyms":["Cukrzyca o wczesnym początku z wielomiejscową dysplazją nasad","WRS"]},"cs":{"name":"Wolcottové-Rallisonův syndrom","synonyms":["WRS","Časně-vzniklý diabetes mellitus s mnohočetnou epifyzární dysplázií","Wolcott-Rallisonův syndrom"]},"uk":{"name":"Синдром Волкотта-Раллісона","synonyms":["Цукровий діабет на ранніх стадіях з множинною епіфізарною дисплазією","WRS"],"definition":"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure."},"zh":{"name":"Wolcott-Rallison综合征","synonyms":["早发性糖尿病伴多发性骨骺发育不良"]},"tr":{"name":"Wolcott-Rallison sendromu","synonyms":["WRS","Çoklu epifiz displazili erken başlangıçlı diabetes mellitus"]}},"xrefs":[{"source":"OMIM","code":"226980","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A13.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2096915129"},{"source":"MONDO","code":"0009192","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536739","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432217","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5589","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10090582","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":181381,"name":"Other rare diabetes mellitus","classifications":[193]},{"orpha":183625,"name":"Rare genetic diabetes mellitus","classifications":[156]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"EIF2AK3","name":"eukaryotic translation initiation factor 2 alpha kinase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21050479[PMID]","hgnc":"3255","ensembl":"ENSG00000172071","omim":"604032","loci":["2p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"21050479[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":"2021-06-21","source":"28843469[PMID]_30514997[PMID]_31884440[PMID]","terms":[{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000857","label":"Neonatal insulin-dependent diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006554","label":"Acute hepatic failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100255","label":"Metaphyseal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002654","label":"Multiple epiphyseal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011787","label":"Central hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001738","label":"Exocrine pancreatic insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002904","label":"Hyperbilirubinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001993","label":"Ketoacidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100827","label":"Lymphocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001719","label":"Double outlet right ventricle","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002480","label":"Hepatic encephalopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Very rare (<4-1%)","criteria":null}]}}