KEGG   DISEASE: Johanson-Blizzard syndromeHelp
Entry
H00571                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00571  Johanson-Blizzard syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00571  Johanson-Blizzard syndrome
BRITE hierarchy
Gene
UBR1 [HSA:197131] [KO:K10625]
Other DBs
ICD-11: LD27.0Y
ICD-10: Q87.8
MeSH: C535880
OMIM: 243800
Reference
  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
Reference
  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
Reference
  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

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