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: Nima Rezaei, Mozhgan Sabbaghian, Zhifeng Liu, Martin Zenker
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 170 Issue 2 Pg. 179-83 (Feb 2011) ISSN: 1432-1076 [Electronic] Germany
• PMID: 20556422 (Publication Type: Journal Article, Review)

Chemical References

• UBR1 protein, human
• Ubiquitin-Protein Ligases

Topics

• Abnormalities, Multiple (genetics, physiopathology)
• Anus, Imperforate
• Child
• Deafness (genetics, physiopathology)
• Ectodermal Dysplasia (genetics, physiopathology)
• Eponyms
• Exocrine Pancreatic Insufficiency (genetics, physiopathology)
• Growth Disorders
• Hearing Loss, Sensorineural
• Humans
• Hypothyroidism (genetics, physiopathology)
• Intellectual Disability
• Nose (abnormalities, physiopathology)
• Pancreatic Diseases (genetics, physiopathology)
• Ubiquitin-Protein Ligases (genetics)