KEGG   DISEASE: Johanson-Blizzard syndromeHelp
H00571                      Disease                                

Johanson-Blizzard syndrome
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.
Congenital malformation
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
UBR1 [HSA:197131] [KO:K10625]
Other DBs
ICD-11: LD27.0Y
ICD-10: Q87.8
MeSH: C535880
OMIM: 243800
Rezaei N, Sabbaghian M, Liu Z, Zenker M
Eponym: Johanson-Blizzard syndrome.
Eur J Pediatr 170:179-83 (2011)
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
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Nat Genet 37:1345-50 (2005)
Hwang CS, Sukalo M, Batygin O, Addor MC, Brunner H, Aytes AP, Mayerle J, Song HK, Varshavsky A, Zenker M
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.
PLoS One 6:e24925 (2011)

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