KEGG   DISEASE: Cherubism
Entry
H00497                      Disease                                
Name
Cherubism
Description
Cherubism is an uncommon disorder of the jaws in childhood. The maxillary bones are replaced with pseudocystic osteolytic lesions, affecting dentition. Mutated SH3BP2, which can enhance BCR signaling, is involved in the pathogenesis of cherubism.
Category
Digestive system disease
Brite
Human diseases [BR:br08402]
 Digestive system diseases
  Mouth and dental diseases
   H00497  Cherubism
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00497  Cherubism
Related
pathway
hsa04650  Natural killer cell mediated cytotoxicity
Gene
SH3BP2 [HSA:6452] [KO:K07984]
Other DBs
ICD-11: LD24.22
ICD-10: K10.8
MeSH: D002636
OMIM: 118400
Reference
  Authors
Baskin B, Bowdin S, Ray PN
  Title
Cherubism
  Journal
GeneReviews (1993)
Reference
  Authors
Mortellaro C, Bello L, Lucchina AG, Pucci A
  Title
Diagnosis and treatment of familial cherubism characterized by early onset and rapid development.
  Journal
J Craniofac Surg 20:116-20 (2009)
DOI:10.1097/SCS.0b013e318190e23c
Reference
  Authors
Ogi K, Nakashima K, Chihara K, Takeuchi K, Horiguchi T, Fujieda S, Sada K
  Title
Enhancement of B-cell receptor signaling by a point mutation of adaptor protein 3BP2 identified in human inherited disease cherubism.
  Journal
Genes Cells 16:951-60 (2011)
DOI:10.1111/j.1365-2443.2011.01539.x
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