{"orpha":2315,"name":"Johanson-Blizzard syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["JBS"],"definition":"Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2315/","orphanet_url":"https://www.orpha.net/en/disease/detail/2315","names":{"fr":{"name":"Syndrome de Johanson-Blizzard","definition":"Anomalies congénitales multiples caractérisées par une insuffisance pancréatique exocrine, une hypoplasie/aplasie des ailes du nez, une hypodontie, une surdité neurosensorielle, un retard de croissance, des malformations anales et urogénitales et une déficience intellectuelle de degré variable."},"de":{"name":"Johanson-Blizzard-Syndrom","synonyms":["JBS"],"definition":"Das Johanson-Blizzard-Syndrom (JBS) ist eine multiple kongenitale Anomalie, die durch exokrine Pankreasinsuffizienz, Hypoplasie/Aplasie der Nasenflügel, Hypodontie, Schallempfindungsschwerhörigkeit, Wachstumsverzögerung, anale und urogenitale Fehlbildungen und variable Intelligenzminderung gekennzeichnet ist."},"es":{"name":"Síndrome de Johanson-Blizzard","definition":"Es un síndrome por anomalías congénitas múltiples caracterizado por insuficiencia pancreática exocrina, hipoplasia / aplasia de las alas nasales, hipodoncia, pérdida auditiva neurosensorial, retraso del crecimiento, malformaciones anales y urogenitales y discapacidad intelectual variable."},"it":{"name":"Sindrome di Johanson-Blizzard","definition":"La sindrome di Johanson-Blizzard (JBS) è una malattia da difetti congeniti multipli, caratterizzata da insufficienza pancreatica esocrina, ipoplasia/aplasia delle ali del naso, ipodontia, sordità neurosensoriale, ritardo della crescita, malformazioni anali e urogenitali e disabilità intellettiva di grado variabile."},"nl":{"name":"Syndroom van Johanson-Blizzard","synonyms":["JBS"],"definition":"Syndroom van Johanson-Blizzard (JBS) is een meervoudige congenitale anomalie die gekarakteriseerd wordt door insufficiëntie van de exocriene pancreas, hypoplasie/aplasie van de neusvleugels, hypodontie, sensorineuraal gehoorverlies, groeiretardatie, anale en urogenitale malformaties, en variabele intellectuele achterstand."},"pt":{"name":"Síndrome Johanson-Blizzard","synonyms":["JBS"]},"pl":{"name":"Zespół Johansona i Blizzarda","synonyms":["JBS"]},"cs":{"name":"Johansonové-Blizzardův syndrom","synonyms":["Johanson-Blizzardův syndrom"]},"uk":{"name":"Синдром Йохансона-Блізард","synonyms":["JBS"],"definition":"Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability."},"zh":{"name":"Johanson-Blizzard综合征","synonyms":["JBS"]},"tr":{"name":"Johanson-Blizzard sendromu","synonyms":["JBS"]}},"xrefs":[{"source":"OMIM","code":"243800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1427330812"},{"source":"MONDO","code":"0009479","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535880","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0175692","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"80","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10074947","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":95495,"name":"Disease associated with non-acquired combined pituitary hormone deficiency","classifications":[156,193]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":177107,"name":"Syndromic hypothyroidism","classifications":[156,193]}],"children":[],"genes":[{"symbol":"UBR1","name":"ubiquitin protein ligase E3 component n-recognin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21931868[PMID]_16311597[PMID]_23652379[PMID]","hgnc":"16808","ensembl":"ENSG00000159459","omim":"605981","loci":["15q15.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Europe","status":"Validated","source":"16311597[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001732","label":"Abnormality of the pancreas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001738","label":"Exocrine pancreatic insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010460","label":"Abnormality of the female genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000142","label":"Abnormality of the vagina","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001092","label":"Absent lacrimal punctum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003075","label":"Hypoproteinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000632","label":"Lacrimation abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005288","label":"Abnormality of the nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null}]}}