Eponym: Johanson-Blizzard syndrome.
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.
Rezaei
Nima
N
Research Group for Immunodeficiencies, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. nima_rezaei@farabi.tums.ac.ir
Sabbaghian
Mozhgan
M
Liu
Zhifeng
Z
Zenker
Martin
M
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*
C113474:UBR1 protein, human; D044767:Ubiquitin-Protein Ligases