KEGG   DISEASE: Hereditary gingival fibromatosisHelp
Entry
H01250                      Disease                                

Name
Hereditary gingival fibromatosis
Description
Hereditary gingival fibromatosis (GINGF) 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 GINGF. Although the molecular basis of HGF remains largely unknown, a SOS1 gene mutation is identified. Recently, it has been reported that REST final-exon-truncating mutations cause GINGF.
Category
Digestive system disease
Brite
Human diseases [BR:br08402]
 Digestive system diseases
  Mouth and dental diseases
   H01250  Hereditary gingival fibromatosis
Human diseases in ICD-11 classification [BR:br08403]
 13 Diseases of the digestive system
  Diseases or disorders of orofacial complex
   DA0D  Certain specified disorders of gingival or edentulous alveolar ridge
    H01250  Hereditary gingival fibromatosis
BRITE hierarchy
Pathway
hsa04010  MAPK signaling pathway
Gene
(GINGF1) SOS1 [HSA:6654] [KO:K03099]
(GINGF5) REST [HSA:5978] [KO:K09222]
Other DBs
ICD-11: DA0D.1
ICD-10: K06.1
MeSH: D005351
OMIM: 135300 617626
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)
DOI:10.1086/339689
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)
DOI:10.1007/s00431-009-1034-9
Reference
  Authors
Bayram Y, White JJ, Elcioglu N, Cho MT, Zadeh N, Gedikbasi A, Palanduz S, Ozturk S, Cefle K, Kasapcopur O, Coban Akdemir Z, Pehlivan D, Begtrup A, Carvalho CMB, Paine IS, Mentes A, Bektas-Kayhan K, Karaca E, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR
  Title
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
  Journal
Am J Hum Genet 101:149-156 (2017)
DOI:10.1016/j.ajhg.2017.06.006

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