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Fibromatosis, gingival, 1(GINGF1)

MedGen UID:
1647111
Concept ID:
C4551558
Disease or Syndrome
Synonym: Hereditary gingival fibromatosis, 1
 
Gene (location): 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.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
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.

Professional guidelines

PubMed

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: 34185859Free PMC Article
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
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

Recent clinical studies

Etiology

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: 37752101Free PMC Article
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
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: 26818898Free PMC Article
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

Diagnosis

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 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
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: 26818898Free PMC Article
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

Therapy

Elhossini RM, Sayed IM, Hellal US, Mahmoud SAM, Aglan MS, Hassib NF, Abdel-Hamid MS
Am J Med Genet A 2024 Jan;194(1):39-45. Epub 2023 Sep 26 doi: 10.1002/ajmg.a.63415. PMID: 37750049
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
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
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
Doufexi A, Mina M, Ioannidou E
J Periodontol 2005 Jan;76(1):3-10. doi: 10.1902/jop.2005.76.1.3. PMID: 15830631

Prognosis

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
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
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: 26818898Free PMC Article
Giri PP, Raushan R, Ghosh A, Pal P
Indian Pediatr 2012 Jan;49(1):62-4. PMID: 22318104
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

Clinical prediction guides

Napoli G, Panzironi N, Traversa A, Catalanotto C, Pace V, Petrizzelli F, Giovannetti A, Lazzari S, Cogoni C, Tartaglia M, Carella M, Mazza T, Pizzuti A, Parisi C, Caputo V
Mol Neurobiol 2022 Aug;59(8):4825-4838. Epub 2022 May 31 doi: 10.1007/s12035-022-02886-4. PMID: 35639255Free PMC Article
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: 34819125Free PMC Article
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: 28686854Free PMC Article
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
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

Recent systematic reviews

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

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