KEGG   DISEASE: H01250Help
Entry
H01250                      Disease                                

Name
Hereditary gingival fibromatosis (HGF)
Description
Hereditary gingival fibromatosis (HGF) is a rare autosomal dominant overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva. Four gene loci have been mapped for autosomal dominant HGF. Although the molecular basis of HGF remains largely unknown, only a SOS1 gene mutation is identified.
Category
Developmental disorder
BRITE hierarchy
Pathway
MAPK signaling pathway
Gene
SOS1 [HSA:6654] [KO:K03099]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Hart TC, Zhang Y, Gorry MC, Hart PS, Cooper M, Marazita ML, Marks JM, Cortelli JR, Pallos D
  Title
A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.
  Journal
Am J Hum Genet 70:943-54 (2002)
Reference
  Authors
Pampel M, Maier S, Kreczy A, Weirich-Schwaiger H, Utermann G, Janecke AR
  Title
Refinement of the GINGF3 locus for hereditary gingival fibromatosis.
  Journal
Eur J Pediatr 169:327-32 (2010)

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