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Fibromatosis, gingival, 1(GINGF1)

MedGen UID:: 1647111
•Concept ID:: C4551558
•: Disease or Syndrome

Synonym:	Hereditary gingival fibromatosis, 1

Gene (location): Gene(s) directly associated with this condition or phenotype.	SOS1 (2p22.1)

Monarch Initiative:	MONDO:0007609
OMIM®:	135300

Definition

Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene. [from MONDO]

Clinical features

From HPO

Gingival fibromatosis

MedGen UID:: 42017
•Concept ID:: C0016049
•: Finding

The presence of fibrosis of the gingiva.

See: Feature record | Search on this feature

Hearing impairment

MedGen UID:: 235586
•Concept ID:: C1384666
•: Disease or Syndrome

A decreased magnitude of the sensory perception of sound.

See: Feature record | Search on this feature

Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

See: Feature record | Search on this feature

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Abnormality of the nervous system
- Intellectual disability
Ear malformation
- Hearing impairment
Neoplasm
- Gingival fibromatosis

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGingival overgrowth
- CROGVEpulis
  - CROGVCongenital epulis
  - CROGVGingival fibroepithelial polyp
- CROGVHereditary gingival fibromatosis
  - CROGVFibromatosis, gingival, 1
  - CROGVFibromatosis, gingival, 2
  - CROGVFibromatosis, gingival, 3
  - CROGVFibromatosis, gingival, 4
  - CROGVFibromatosis, gingival, 5
- CROGVHypertrophy of gingiva

Abnormal oral morphology
- Abnormal oral cavity morphology
  - Abnormal oral mucosa morphology
    - Abnormality of the gingiva
      - Gingival overgrowth
        Hereditary gingival fibromatosis
        Fibromatosis, gingival, 1

Professional guidelines

PubMed

Anesthetic Management of a Juvenile Hyaline Fibromatosis Patient With Trismus and Cervical Movement Limitation.

Yasuda A, Miyazawa N, Inoue E, Imai T, Shionoya Y, Nakamura K
Anesth Prog 2021 Jun 1;68(2):117-118. doi: 10.2344/anpr-68-01-04. PMID: 34185859 Free PMC Article

Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.

Pinna R, Cocco F, Campus G, Conti G, Milia E, Sardella A, Cagetti MG
Periodontol 2000 2019 Jun;80(1):12-27. doi: 10.1111/prd.12261. PMID: 31090139

Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.

Casas-Alba D, Martínez-Monseny A, Pino-Ramírez RM, Alsina L, Castejón E, Navarro-Vilarrubí S, Pérez-Dueñas B, Serrano M, Palau F, García-Alix A
Hum Mutat 2018 Dec;39(12):1752-1763. Epub 2018 Sep 17 doi: 10.1002/humu.23638. PMID: 30176098

See all (4)

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

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

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 (34)

Diagnosis

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

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

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

Juvenile hyaline fibromatosis.

Aldred MJ, Crawford PJ
Oral Surg Oral Med Oral Pathol 1987 Jan;63(1):71-7. doi: 10.1016/0030-4220(87)90343-4. PMID: 2433666

See all (58)

Therapy

Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients.

Margiotti K, Pascolini G, Consoli F, Guida V, Di Bonaventura C, Giallonardo AT, Pizzuti A, De Luca A
Arch Oral Biol 2017 Aug;80:160-163. Epub 2017 Apr 5 doi: 10.1016/j.archoralbio.2017.04.002. PMID: 28433619

An update on crown lengthening. Part 1: Gingival tissue excess.

Kalsi HJ, Hussain Z, Darbar U
Dent Update 2015 Mar;42(2):144-6, 149-50, 153. doi: 10.12968/denu.2015.42.2.144. PMID: 26058228

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

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

Pseudomalignancies in dermatology.

Apisarnthanarax P, Mullins JF
J Med Assoc Thai 1975 Jan;58(1):24-35. PMID: 122999

See all (14)

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

Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.

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

Infantile systemic hyalinosis.

Giri PP, Raushan R, Ghosh A, Pal P
Indian Pediatr 2012 Jan;49(1):62-4. PMID: 22318104

Juvenile hyaline fibromatosis.

Aldred MJ, Crawford PJ
Oral Surg Oral Med Oral Pathol 1987 Jan;63(1):71-7. doi: 10.1016/0030-4220(87)90343-4. PMID: 2433666

See all (27)

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

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

Immunoexpression of α2-integrin and Hsp47 in hereditary gingival fibromatosis and gingival fibromatosis-associated dental abnormalities.

Vieira-Júnior JR, de Oliveira-Santos C, Della-Coletta R, Cristianismo-Costa D, Paranaíba LM, Martelli-Júnior H
Med Oral Patol Oral Cir Bucal 2013 Jan 1;18(1):e45-8. doi: 10.4317/medoral.17970. PMID: 23229240 Free PMC Article

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

See all (1)

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Fibromatosis, gingival, 1(GINGF1)

Definition

Clinical features

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

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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