Details of Disease

General Information of Disease (ID: DISN1ML3)

• Disease Name: Hereditary gingival fibromatosis
• Synonyms: autosomal dominant gingival fibromatosis; hereditary gingival fibromatosis; hereditary gingival hyperplasia; autosomal dominant gingival hyperplasia
• Definition: Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.
• Disease Hierarchy:
  DISQCXZX: Disorder of development or morphogenesis
  DISYKSRF: Genetic disease
  DIS4OVAJ: Gingival overgrowth
  DISN1ML3: Hereditary gingival fibromatosis
• Disease Identifiers:
  MONDO ID: MONDO_0016070
  UMLS CUI: C0399440
  MedGen ID: 140775
  Orphanet ID: 2024
  SNOMED CT ID: 109620006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SERPINH1	TTPSWQG	Strong	Biomarker	[1]
HPN	TT25MVL	Definitive	Biomarker	[2]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A37	DTLBGTZ	Strong	Biomarker	[3]

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
REST	OTLL92LQ	Supportive	Autosomal dominant	[4]
SOS1	OTTCWXC3	Supportive	Autosomal dominant	[5]
SEMA3E	OTD4S36H	moderate	Biomarker	[6]
ASH1L	OTUT5NLJ	Definitive	Altered Expression	[7]
HAS3	OTPM8IL8	Definitive	Altered Expression	[8]
HBG1	OTVL4NSU	Definitive	Genetic Variation	[9]
HBG2	OT4J48JJ	Definitive	Genetic Variation	[9]
NRK	OTGR01FF	Definitive	Biomarker	[10]

References

• [1] TIMP-1 association with collagen type I overproduction in hereditary gingival fibromatosis.Oral Dis. 2018 Nov;24(8):1581-1590. doi: 10.1111/odi.12938. Epub 2018 Aug 14.
• [2] Design, Synthesis, and Testing of Potent, Selective Hepsin Inhibitors via Application of an Automated Closed-Loop Optimization Platform.J Med Chem. 2018 May 24;61(10):4335-4347. doi: 10.1021/acs.jmedchem.7b01698. Epub 2018 May 14.
• [3] Hepatocyte growth factor enhances the inflammation-alleviating effect of umbilical cord-derived mesenchymal stromal cells in a bronchiolitis obliterans model.Cytotherapy. 2016 Mar;18(3):402-12. doi: 10.1016/j.jcyt.2015.12.006.
• [4] REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet. 2017 Jul 6;101(1):149-156. doi: 10.1016/j.ajhg.2017.06.006.
• [5] A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. Am J Hum Genet. 2002 Apr;70(4):943-54. doi: 10.1086/339689. Epub 2002 Feb 26.
• [6] A SEMA3E mutant resistant to cleavage by furins (UNCL-SEMA3E) inhibits choroidal neovascularization.Exp Eye Res. 2016 Dec;153:186-194. doi: 10.1016/j.exer.2016.10.004. Epub 2016 Oct 7.
• [7] Mutant MMP-9 and HGF gene transfer enhance resolution of CCl4-induced liver fibrosis in rats: role of ASH1 and EZH2 methyltransferases repression.PLoS One. 2014 Nov 7;9(11):e112384. doi: 10.1371/journal.pone.0112384. eCollection 2014.
• [8] Differences in the expression of glycosaminoglycans in human fibroblasts derived from gingival overgrowths is related to TGF-beta up-regulation.Growth Factors. 2010 Feb;28(1):24-33. doi: 10.3109/08977190903321819.
• [9] A novel locus for maternally inherited human gingival fibromatosis at chromosome 11p15.Hum Genet. 2007 Mar;121(1):113-23. doi: 10.1007/s00439-006-0283-1. Epub 2006 Oct 31.
• [10] HGF induces the serinephosphorylation and cell surface translocation of ROMK (Kir 1.1) channels in rat kidney cells.Mol Med Rep. 2018 Jan;17(1):1031-1034. doi: 10.3892/mmr.2017.7969. Epub 2017 Nov 6.