H00571 | |
H number | H00571 |
Name | Johanson-Blizzard syndrome |
Description | Johanson-Blizzard syndrome is a rare, sometimes fatal disorder that is inherited in autosomal recessive pattern. Exocrine pancreatic insufficiency including decreased secretion of lipases and trypsinogen is the most consistent feature. Nasal wing hypoplasia, scalp defects, and sensorineural hearing loss are additional clinical features of the disease. The causative gene, ubiquitin-protein ligase E3 component N-recognin 1 (UBR1), is involved in protein destabilization. |
Category | Congenital malformation |
Network | - |
Gene | UBR1 [HSA:197131] [KO:K10625] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD27.0Y ICD-10: Q87.8 MeSH: C535880 OMIM: 243800 |
Reference | PMID:20556422 AUTHORS Rezaei N, Sabbaghian M, Liu Z, Zenker M TITLE Eponym: Johanson-Blizzard syndrome. JOURNAL Eur J Pediatr 170:179-83 (2011) DOI:10.1007/s00431-010-1240-5 PMID:16311597 AUTHORS Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hulskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A TITLE Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). JOURNAL Nat Genet 37:1345-50 (2005) DOI:10.1038/ng1681 PMID:21931868 AUTHORS Hwang CS, Sukalo M, Batygin O, Addor MC, Brunner H, Aytes AP, Mayerle J, Song HK, Varshavsky A, Zenker M TITLE Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. JOURNAL PLoS One 6:e24925 (2011) DOI:10.1371/journal.pone.0024925 |