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Hereditary gingival fibromatosis(HGF)

MedGen UID:: 140775
•Concept ID:: C0399440
•: Disease or Syndrome

Synonym:	Fibromatosis, Gingival, Hereditary
SNOMED CT:	Hereditary gingival fibromatosis (109620006); Hereditary fibrous enlargement of gingiva (109620006)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	SOS1, REST

Monarch Initiative:	MONDO:0016070
OMIM®:	135300
OMIM® Phenotypic series:	PS135300
Orphanet:	ORPHA2024

Definition

Gingival fibromatosis is a rare overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva (summary by Hart et al., 2002). Genetic Heterogeneity of Hereditary Gingival Fibromatosis Other loci for gingival fibromatosis have been mapped to chromosome 5q (GINGF2; 605544), chromosome 2p23.3-p22.3 (GINGF3; 609955), and chromosome 11p15 (GINGF4; 611010). GINGF5 (617626) is caused by mutation in the REST gene (600571) on chromosome 4q12. GINGF6 (620999) is caused by mutation in the ZNF862 gene (620974) on chromosome 7q36. There is some evidence for a locus on chromosome 2p16-p13 (see MAPPING). [from OMIM]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGingival overgrowth
- CROGVEpulis
  - CROGVCongenital epulis
  - CROGVGingival fibroepithelial polyp
- CROGVHereditary gingival fibromatosis
- CROGVHypertrophy of gingiva

Abnormality of the mouth
- Abnormal oral morphology
  - Abnormal oral cavity morphology
    - Abnormal oral mucosa morphology
      - Abnormality of the gingiva
        Gingival overgrowth
        Hereditary gingival fibromatosis
        Fibromatosis, gingival, 1
        Fibromatosis, gingival, 2
        Fibromatosis, gingival, 3
        Fibromatosis, gingival, 4
        Fibromatosis, gingival, 5

Follow this link to review classifications for Hereditary gingival fibromatosis in Orphanet.

Professional guidelines

PubMed

Periodontology Part 3: Hereditary Gingival Fibromatosis (HGF): from diagnosis to treatment in the paediatric age.

Carli E, Lardani L, Fitzgibbon R, Fambrini E, Bagattoni S
Eur J Paediatr Dent 2022 Sep;23(3):249-250. doi: 10.23804/ejpd.2022.23.03.13. PMID: 36172902

Towards the targeted management of hereditary gingival fibromatosis.

Yussif NM, Abdul Aziz MA
Med Hypotheses 2018 Dec;121:188-190. Epub 2018 Sep 10 doi: 10.1016/j.mehy.2018.09.017. PMID: 30396478

Diagnosis and treatment of a hereditary gingival fibromatosis case.

Zhou M, Xu L, Meng HX
Chin J Dent Res 2011;14(2):155-8. PMID: 22319759

See all (3)

Recent clinical studies

Etiology

Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis.

Chen J, Xu X, Chen S, Lu T, Zheng Y, Gan Z, Shen Z, Ma S, Wang D, Su L, He F, Shang X, Xu H, Chen D, Zhang L, Xiong F
Int J Oral Sci 2023 Sep 26;15(1):46. doi: 10.1038/s41368-023-00244-1. PMID: 37752101 Free PMC Article

Periodontal health and gingival diseases and conditions on an intact and a reduced periodontium: Consensus report of workgroup 1 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions.

Chapple ILC, Mealey BL, Van Dyke TE, Bartold PM, Dommisch H, Eickholz P, Geisinger ML, Genco RJ, Glogauer M, Goldstein M, Griffin TJ, Holmstrup P, Johnson GK, Kapila Y, Lang NP, Meyle J, Murakami S, Plemons J, Romito GA, Shapira L, Tatakis DN, Teughels W, Trombelli L, Walter C, Wimmer G, Xenoudi P, Yoshie H
J Periodontol 2018 Jun;89 Suppl 1:S74-S84. doi: 10.1002/JPER.17-0719. PMID: 29926944

Chapple ILC, Mealey BL, Van Dyke TE, Bartold PM, Dommisch H, Eickholz P, Geisinger ML, Genco RJ, Glogauer M, Goldstein M, Griffin TJ, Holmstrup P, Johnson GK, Kapila Y, Lang NP, Meyle J, Murakami S, Plemons J, Romito GA, Shapira L, Tatakis DN, Teughels W, Trombelli L, Walter C, Wimmer G, Xenoudi P, Yoshie H
J Clin Periodontol 2018 Jun;45 Suppl 20:S68-S77. doi: 10.1111/jcpe.12940. PMID: 29926499

Modeling RASopathies with Genetically Modified Mouse Models.

Hernández-Porras I, Guerra C
Methods Mol Biol 2017;1487:379-408. doi: 10.1007/978-1-4939-6424-6_28. PMID: 27924582

Recent advances in RASopathies.

Aoki Y, Niihori T, Inoue S, Matsubara Y
J Hum Genet 2016 Jan;61(1):33-9. Epub 2015 Oct 8 doi: 10.1038/jhg.2015.114. PMID: 26446362

See all (35)

Diagnosis

Hereditary gingival fibromatosis in children: a systematic review of the literature.

Boutiou E, Ziogas IA, Giannis D, Doufexi AE
Clin Oral Investig 2021 Jun;25(6):3599-3607. Epub 2020 Nov 13 doi: 10.1007/s00784-020-03682-x. PMID: 33188467

Chapple ILC, Mealey BL, Van Dyke TE, Bartold PM, Dommisch H, Eickholz P, Geisinger ML, Genco RJ, Glogauer M, Goldstein M, Griffin TJ, Holmstrup P, Johnson GK, Kapila Y, Lang NP, Meyle J, Murakami S, Plemons J, Romito GA, Shapira L, Tatakis DN, Teughels W, Trombelli L, Walter C, Wimmer G, Xenoudi P, Yoshie H
J Clin Periodontol 2018 Jun;45 Suppl 20:S68-S77. doi: 10.1111/jcpe.12940. PMID: 29926499

Current concepts on gingival fibromatosis-related syndromes.

Poulopoulos A, Kittas D, Sarigelou A
J Investig Clin Dent 2011 Aug;2(3):156-61. Epub 2011 Mar 15 doi: 10.1111/j.2041-1626.2011.00054.x. PMID: 25426785

Hereditary gingival fibromatosis--a review.

DeAngelo S, Murphy J, Claman L, Kalmar J, Leblebicioglu B
Compend Contin Educ Dent 2007 Mar;28(3):138-43; quiz 144, 152. PMID: 17385395

See all (33)

Therapy

The significance of electron microscopic examination of gingiva in cases of Hunter syndrome and hereditary gingival fibromatosis.

Straka M, Danisovic L, Bzduch V, Polak S, Varga I
Neuro Endocrinol Lett 2016 Oct;37(5):353-360. PMID: 28171221

Resection of Gingival Fibromatosis with High-power Laser.

Camilotti RS, Jasper J, Ferreira TB, Antonini F, Poli VD, Pagnoncelli RM
J Dent Child (Chic) 2015 Jan-Apr;82(1):47-52. PMID: 25909843

Gummy smile: could it be genetic? Hereditary gingival fibromatosis.

Livada R, Shiloah J
J Mich Dent Assoc 2012 Dec;94(12):40-3. PMID: 23346694

Gingival overgrowth in children: epidemiology, pathogenesis, and complications. A literature review.

Doufexi A, Mina M, Ioannidou E
J Periodontol 2005 Jan;76(1):3-10. doi: 10.1902/jop.2005.76.1.3. PMID: 15830631

Hereditary gingival fibromatosis and growth retardation.

Bhowmick SK, Gidvani VK, Rettig KR
Endocr Pract 2001 Sep-Oct;7(5):383-7. doi: 10.4158/EP.7.5.383. PMID: 11585376

See all (7)

Prognosis

New evidence of genetic heterogeneity causing hereditary gingival fibromatosis and ALK and CD36 as new candidate genes.

Machado RA, de Andrade RS, Pêgo SPB, Krepischi ACV, Coletta RD, Martelli-Júnior H
J Periodontol 2023 Jan;94(1):108-118. Epub 2022 Jul 1 doi: 10.1002/JPER.22-0219. PMID: 35665929

Antifibrotic Potential of MiR-335-3p in Hereditary Gingival Fibromatosis.

Gao Q, Yang K, Chen D, Song Y, Qiao W, Sun X, Meng L, Bian Z
J Dent Res 2019 Sep;98(10):1140-1149. Epub 2019 Jul 19 doi: 10.1177/0022034519863300. PMID: 31323181

Gingival fibromatosis: clinical, molecular and therapeutic issues.

Gawron K, Łazarz-Bartyzel K, Potempa J, Chomyszyn-Gajewska M
Orphanet J Rare Dis 2016 Jan 27;11:9. doi: 10.1186/s13023-016-0395-1. PMID: 26818898 Free PMC Article

Current concepts on gingival fibromatosis-related syndromes.

Poulopoulos A, Kittas D, Sarigelou A
J Investig Clin Dent 2011 Aug;2(3):156-61. Epub 2011 Mar 15 doi: 10.1111/j.2041-1626.2011.00054.x. PMID: 25426785

Diagnosis and treatment of a hereditary gingival fibromatosis case.

Zhou M, Xu L, Meng HX
Chin J Dent Res 2011;14(2):155-8. PMID: 22319759

See all (21)

Clinical prediction guides

Clinics and genetic background of hereditary gingival fibromatosis.

Strzelec K, Dziedzic A, Łazarz-Bartyzel K, Grabiec AM, Gutmajster E, Kaczmarzyk T, Plakwicz P, Gawron K
Orphanet J Rare Dis 2021 Nov 24;16(1):492. doi: 10.1186/s13023-021-02104-9. PMID: 34819125 Free PMC Article

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

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; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Lupski JR
Am J Hum Genet 2017 Jul 6;101(1):149-156. doi: 10.1016/j.ajhg.2017.06.006. PMID: 28686854 Free PMC Article

Genetic analysis of hereditary gingival fibromatosis using whole exome sequencing and bioinformatics.

Hwang J, Kim YL, Kang S, Kim S, Kim SO, Lee JH, Han DH
Oral Dis 2017 Jan;23(1):102-109. Epub 2016 Oct 10 doi: 10.1111/odi.12583. PMID: 27614106

Ultrastructural evaluation of gingival connective tissue in hereditary gingival fibromatosis.

Pêgo SP, de Faria PR, Santos LA, Coletta RD, de Aquino SN, Martelli-Júnior H
Oral Surg Oral Med Oral Pathol Oral Radiol 2016 Jul;122(1):81-88.e2. Epub 2016 Apr 16 doi: 10.1016/j.oooo.2016.04.002. PMID: 27260277

Understanding SOS (Son of Sevenless).

Pierre S, Bats AS, Coumoul X
Biochem Pharmacol 2011 Nov 1;82(9):1049-56. Epub 2011 Jul 20 doi: 10.1016/j.bcp.2011.07.072. PMID: 21787760

See all (34)

Recent systematic reviews

Hereditary gingival fibromatosis in children: a systematic review of the literature.

Boutiou E, Ziogas IA, Giannis D, Doufexi AE
Clin Oral Investig 2021 Jun;25(6):3599-3607. Epub 2020 Nov 13 doi: 10.1007/s00784-020-03682-x. PMID: 33188467

Hereditary gingival fibromatosis: a systematic review.

Coletta RD, Graner E
J Periodontol 2006 May;77(5):753-64. doi: 10.1902/jop.2006.050379. PMID: 16671866

See all (2)

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Hereditary gingival fibromatosis(HGF)

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

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Consumer resources

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