Johanson-Blizzard Syndrome (JBS)

Johanson-Blizzard Syndrome, also known as jbs, is related to exocrine pancreatic insufficiency and aplasia cutis congenita, nonsyndromic. An important gene associated with Johanson-Blizzard Syndrome is UBR1 (Ubiquitin Protein Ligase E3 Component N-Recognin 1), and among its related pathways/superpathways are Ubiquitin-Proteasome Dependent Proteolysis and Transcription_P53 signaling pathway. Affiliated tissues include pancreas and skin, and related phenotypes are failure to thrive and abnormality of the dentition