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Tooth agenesis, selective, 9(STHAG9)

MedGen UID:
934605
Concept ID:
C4310638
Congenital Abnormality
Synonym: STHAG9
 
Gene (location): GREM2 (1q43)
 
Monarch Initiative: MONDO:0014999
OMIM®: 617275

Definition

Selective tooth agenesis-9 (STHAG9) is an autosomal dominant disorder characterized by agenesis of various teeth. Other features include taurodontism, microdontia, short tooth roots, sparse and slow-growing hair, and dry and itchy skin (Kantaputra et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of selective tooth agenesis, see STHAG1 (106600). [from OMIM]

Clinical features

From HPO
Microdontia
MedGen UID:
66008
Concept ID:
C0240340
Congenital Abnormality
Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
Taurodontism
MedGen UID:
75596
Concept ID:
C0266039
Disease or Syndrome
Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.
Selective tooth agenesis
MedGen UID:
370882
Concept ID:
C1970308
Congenital Abnormality
Agenesis specifically affecting one of the classes incisor, premolar, or molar.

Professional guidelines

PubMed

Guo X, Duan X
Clin Genet 2023 Sep;104(3):287-297. Epub 2023 Jul 13 doi: 10.1111/cge.14400. PMID: 37448157
Kiliaridis S, Sidira M, Kirmanidou Y, Michalakis K
Eur J Oral Implantol 2016;9 Suppl 1:S5-24. PMID: 27314109
Kalsi JS, Hemmings K
Dent Update 2013 Nov;40(9):698-700, 702-4, 707-8, 710. doi: 10.12968/denu.2013.40.9.698. PMID: 24386761

Recent clinical studies

Etiology

Goel S, Sahu S, Minz RW, Singh S, Suri D, Oh YM, Rawat A, Sehgal S, Saikia B
Front Immunol 2018;9:1080. Epub 2018 May 17 doi: 10.3389/fimmu.2018.01080. PMID: 29868029Free PMC Article
Janson G, Maria FR, Bombonatti R
Prog Orthod 2014;15(1):51. Epub 2014 Aug 12 doi: 10.1186/s40510-014-0051-z. PMID: 25139394Free PMC Article
Tymofiyeva O, Proff PC, Rottner K, Düring M, Jakob PM, Richter EJ
J Oral Maxillofac Surg 2013 Jul;71(7):1159-69. Epub 2013 Apr 21 doi: 10.1016/j.joms.2013.02.014. PMID: 23611603
Caprioglio A, Vanni A, Bolamperti L
Eur J Orthod 2013 Jun;35(3):323-8. Epub 2012 Apr 24 doi: 10.1093/ejo/cjs020. PMID: 22531665
Magnússon TE
Acta Odontol Scand 1984 Jun;42(3):137-9. doi: 10.3109/00016358408993864. PMID: 6332449

Diagnosis

Guo X, Duan X
Clin Genet 2023 Sep;104(3):287-297. Epub 2023 Jul 13 doi: 10.1111/cge.14400. PMID: 37448157
Goel S, Sahu S, Minz RW, Singh S, Suri D, Oh YM, Rawat A, Sehgal S, Saikia B
Front Immunol 2018;9:1080. Epub 2018 May 17 doi: 10.3389/fimmu.2018.01080. PMID: 29868029Free PMC Article
Palaska PK, Antonarakis GS
Eur J Oral Sci 2016 Aug;124(4):317-28. Epub 2016 Jun 17 doi: 10.1111/eos.12282. PMID: 27311636
Aine L
Ann Med 1996 Feb;28(1):9-12. doi: 10.3109/07853899608999067. PMID: 8932499
Palin-Palokas T, Alvesalo L, Hausen H
J Ment Defic Res 1984 Dec;28 ( Pt 4):245-51. doi: 10.1111/j.1365-2788.1984.tb01017.x. PMID: 6241258

Therapy

Pillai KG, Scipio JE, Nayar K, Louis N
West Indian Med J 2007 Sep;56(4):368-71. PMID: 18198744
Hong L, Levy SM, Warren JJ, Broffitt B, Cavanaugh J
Caries Res 2006;40(6):494-500. doi: 10.1159/000095648. PMID: 17063020
Sindet-Pedersen S, Enemark H
J Oral Maxillofac Surg 1990 Jun;48(6):554-8; discussion 559-60. doi: 10.1016/s0278-2391(10)80466-5. PMID: 2341935
Palin-Palokas T, Alvesalo L, Hausen H
J Ment Defic Res 1984 Dec;28 ( Pt 4):245-51. doi: 10.1111/j.1365-2788.1984.tb01017.x. PMID: 6241258
Magnússon TE
Community Dent Oral Epidemiol 1977 Nov;5(6):292-300. doi: 10.1111/j.1600-0528.1977.tb01017.x. PMID: 272256

Prognosis

Goel S, Sahu S, Minz RW, Singh S, Suri D, Oh YM, Rawat A, Sehgal S, Saikia B
Front Immunol 2018;9:1080. Epub 2018 May 17 doi: 10.3389/fimmu.2018.01080. PMID: 29868029Free PMC Article
Palaska PK, Antonarakis GS
Eur J Oral Sci 2016 Aug;124(4):317-28. Epub 2016 Jun 17 doi: 10.1111/eos.12282. PMID: 27311636
Caprioglio A, Vanni A, Bolamperti L
Eur J Orthod 2013 Jun;35(3):323-8. Epub 2012 Apr 24 doi: 10.1093/ejo/cjs020. PMID: 22531665
Sindet-Pedersen S, Enemark H
J Oral Maxillofac Surg 1990 Jun;48(6):554-8; discussion 559-60. doi: 10.1016/s0278-2391(10)80466-5. PMID: 2341935
Tulensalo T, Ranta R, Kataja M
Community Dent Oral Epidemiol 1989 Oct;17(5):258-62. doi: 10.1111/j.1600-0528.1989.tb00629.x. PMID: 2791517

Clinical prediction guides

Goel S, Sahu S, Minz RW, Singh S, Suri D, Oh YM, Rawat A, Sehgal S, Saikia B
Front Immunol 2018;9:1080. Epub 2018 May 17 doi: 10.3389/fimmu.2018.01080. PMID: 29868029Free PMC Article
Pillai KG, Scipio JE, Nayar K, Louis N
West Indian Med J 2007 Sep;56(4):368-71. PMID: 18198744
Lourenço Ribeiro L, Teixeira Das Neves L, Costa B, Ribeiro Gomide M
Cleft Palate Craniofac J 2003 Mar;40(2):172-5. doi: 10.1597/1545-1569_2003_040_0172_daotpl_2.0.co_2. PMID: 12605523
Sindet-Pedersen S, Enemark H
J Oral Maxillofac Surg 1990 Jun;48(6):554-8; discussion 559-60. doi: 10.1016/s0278-2391(10)80466-5. PMID: 2341935
Tulensalo T, Ranta R, Kataja M
Community Dent Oral Epidemiol 1989 Oct;17(5):258-62. doi: 10.1111/j.1600-0528.1989.tb00629.x. PMID: 2791517

Recent systematic reviews

Prado HV, Soares ECB, Carneiro NCR, Vilar ICO, Abreu LG, Borges-Oliveira AC
J Appl Oral Sci 2023;31:e20230040. Epub 2023 Sep 4 doi: 10.1590/1678-7757-2023-0040. PMID: 37672427Free PMC Article
Guo X, Duan X
Clin Genet 2023 Sep;104(3):287-297. Epub 2023 Jul 13 doi: 10.1111/cge.14400. PMID: 37448157
Decaup PH, Garot E, Rouas P
Arch Oral Biol 2021 May;125:105112. Epub 2021 Mar 23 doi: 10.1016/j.archoralbio.2021.105112. PMID: 33780721
Silveira GS, de Almeida NV, Pereira DM, Mattos CT, Mucha JN
Am J Orthod Dentofacial Orthop 2016 Aug;150(2):228-37. doi: 10.1016/j.ajodo.2016.01.018. PMID: 27476355
Khalaf K, Miskelly J, Voge E, Macfarlane TV
J Orthod 2014 Dec;41(4):299-316. doi: 10.1179/1465313314Y.0000000116. PMID: 25404667

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