title: Eponym: Johanson-Blizzard syndrome.
abstract: Johanson-Blizzard syndrome is a very rare autosomal recessive disorder caused by mutations in the Ubiquitin-Protein Ligase E3 Component N-Recognin 1 (UBR1) gene. The syndrome is characterized by exocrine pancreatic insufficiency and a wide range of additional clinical features, including aplasia or hypoplasia of the alae nasi, oligodontia, sensorineural hearing loss, hypothyroidism, scalp defects, mental retardation, and developmental delay. Several other abnormalities in different organs, particularly anorectal, urogenital, and cardiac anomalies have been reported since the first description of this syndrome four decades ago. UBR1 gene defects are underlying the disease. Only symptomatic treatment is available. Exocrine pancreas insufficiency plus abnormal alae nasi is pathognomonic for Johanson-Blizzard syndrome.
authors.affiliation: Research Group for Immunodeficiencies, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. nima_rezaei@farabi.tums.ac.ir
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
authors.forename: Mozhgan
authors.initials: M
authors.lastname: Sabbaghian
authors.forename: Zhifeng
authors.initials: Z
authors.lastname: Liu
authors.forename: Martin
authors.initials: M
authors.lastname: Zenker
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D001006:Anus, Imperforate; D002648:Child; D003638:Deafness / Q000235:genetics / Q000503:physiopathology; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000503:physiopathology; D004850:Eponyms; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics* / Q000503:physiopathology; D006130:Growth Disorders; D006319:Hearing Loss, Sensorineural; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics / Q000503:physiopathology; D008607:Intellectual Disability; D009666:Nose / Q000002:abnormalities* / Q000503:physiopathology; D010182:Pancreatic Diseases / Q000235:genetics / Q000503:physiopathology; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: C113474:UBR1 protein, human; D044767:Ubiquitin-Protein Ligases