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Tooth agenesis, selective, 1(HYD1; STHAG1)

MedGen UID:
483482
Concept ID:
C3489529
Congenital Abnormality
Synonyms: HYPODONTIA/OLIGODONTIA 1; SECOND PREMOLARS AND THIRD MOLARS, ABSENCE OF
 
Gene (location): MSX1 (4p16.2)
 
Monarch Initiative: MONDO:0007129
OMIM®: 106600

Definition

Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals. [from MONDO]

Clinical features

From HPO
Partial congenital absence of teeth
MedGen UID:
43794
Concept ID:
C0020608
Congenital Abnormality
Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). Genetic Heterogeneity of Selective Tooth Agenesis Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG7 (616724), caused by mutation in the LRP6 gene (603507) on chromosome 12p13; STHAG8 (617073), caused by mutation in the WNT10B gene (601906) on chromosome 12q13; STHAG9 (617275), caused by mutation in the GREM2 gene (608832) on chromosome 1q43; STHAG10 (620173), caused by mutation in the TSPEAR gene (612920) on chromosome 21q22; and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on chromosome Xq13. A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; 601216). Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. Genotype-Phenotype Correlations Yu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.

Professional guidelines

PubMed

Schroeder DK, Schroeder MA, Vasconcelos V
Dental Press J Orthod 2022;27(1):e22spe1. Epub 2022 Jun 6 doi: 10.1590/2177-6709.27.1.e22spe1. PMID: 35674572Free PMC Article
Al-Ani AH, Antoun JS, Thomson WM, Merriman TR, Farella M
Biomed Res Int 2017;2017:9378325. Epub 2017 Mar 19 doi: 10.1155/2017/9378325. PMID: 28401166Free PMC Article
O'Sullivan M, O'Connell B
Prim Dent J 2017 Feb 28;6(1):62-73. doi: 10.1177/205016841700600108. PMID: 28376965

Recent clinical studies

Etiology

Jurek A, Gozdowski D, Czochrowska EM, Zadurska M
Int J Environ Res Public Health 2021 Nov 12;18(22) doi: 10.3390/ijerph182211876. PMID: 34831629Free PMC Article
Jonsson L, Magnusson TE, Thordarson A, Jonsson T, Geller F, Feenstra B, Melbye M, Nohr EA, Vucic S, Dhamo B, Rivadeneira F, Ongkosuwito EM, Wolvius EB, Leslie EJ, Marazita ML, Howe BJ, Moreno Uribe LM, Alonso I, Santos M, Pinho T, Jonsson R, Audolfsson G, Gudmundsson L, Nawaz MS, Olafsson S, Gustafsson O, Ingason A, Unnsteinsdottir U, Bjornsdottir G, Walters GB, Zervas M, Oddsson A, Gudbjartsson DF, Steinberg S, Stefansson H, Stefansson K
J Dent Res 2018 May;97(5):515-522. Epub 2018 Jan 24 doi: 10.1177/0022034517750109. PMID: 29364747Free PMC Article
Bilge NH, Yeşiltepe S, Törenek Ağırman K, Çağlayan F, Bilge OM
Folia Morphol (Warsz) 2018;77(2):323-328. Epub 2017 Sep 21 doi: 10.5603/FM.a2017.0087. PMID: 28933802
Antonarakis GS, Palaska PK, Suri S
Orthod Craniofac Res 2017 Nov;20(4):216-226. Epub 2017 Oct 13 doi: 10.1111/ocr.12204. PMID: 29027749
Bonds J, Pollan-White S, Xiang L, Mues G, D'Souza R
Eur J Med Genet 2014 Apr;57(5):235-9. Epub 2014 Mar 12 doi: 10.1016/j.ejmg.2014.02.013. PMID: 24631698Free PMC Article

Diagnosis

Schroeder DK, Schroeder MA, Vasconcelos V
Dental Press J Orthod 2022;27(1):e22spe1. Epub 2022 Jun 6 doi: 10.1590/2177-6709.27.1.e22spe1. PMID: 35674572Free PMC Article
Bonczek O, Krejci P, Izakovicova-Holla L, Cernochova P, Kiss I, Vojtesek B
Clin Genet 2021 Apr;99(4):493-502. Epub 2021 Feb 16 doi: 10.1111/cge.13892. PMID: 33249565
Bilge NH, Yeşiltepe S, Törenek Ağırman K, Çağlayan F, Bilge OM
Folia Morphol (Warsz) 2018;77(2):323-328. Epub 2017 Sep 21 doi: 10.5603/FM.a2017.0087. PMID: 28933802
Phan M, Conte F, Khandelwal KD, Ockeloen CW, Bartzela T, Kleefstra T, van Bokhoven H, Rubini M, Zhou H, Carels CE
Hum Genet 2016 Dec;135(12):1299-1327. Epub 2016 Oct 3 doi: 10.1007/s00439-016-1733-z. PMID: 27699475Free PMC Article
Kokich VO Jr, Kinzer GA
J Esthet Restor Dent 2005;17(1):5-10. doi: 10.1111/j.1708-8240.2005.tb00076.x. PMID: 15934680

Therapy

Cerezo-Cayuelas M, Pérez-Silva A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ
Orphanet J Rare Dis 2022 Oct 17;17(1):376. doi: 10.1186/s13023-022-02533-0. PMID: 36253866Free PMC Article
Shum M, Mahoney E, Naysmith K, Macfarlane S, Corbett R, Narsinh M, Natarajan A, Ramadas Y, Hitchings E, Anderson H
N Z Med J 2020 Oct 9;133(1523):41-54. PMID: 33032302
Mues G, Bonds J, Xiang L, Vieira AR, Seymen F, Klein O, D'Souza RN
Am J Med Genet A 2014 Oct;164A(10):2455-60. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36520. PMID: 24700731Free PMC Article
Yap AK, Klineberg I
Int J Prosthodont 2009 May-Jun;22(3):268-76. PMID: 19548409
Speirs AL
Lancet 1965 Nov 20;2(7421):1074. doi: 10.1016/s0140-6736(65)90602-1. PMID: 4159144

Prognosis

Bonczek O, Krejci P, Izakovicova-Holla L, Cernochova P, Kiss I, Vojtesek B
Clin Genet 2021 Apr;99(4):493-502. Epub 2021 Feb 16 doi: 10.1111/cge.13892. PMID: 33249565
Al-Ani AH, Antoun JS, Thomson WM, Merriman TR, Farella M
Biomed Res Int 2017;2017:9378325. Epub 2017 Mar 19 doi: 10.1155/2017/9378325. PMID: 28401166Free PMC Article
Yin W, Bian Z
Oral Dis 2016 May;22(4):265-73. Epub 2016 Jan 13 doi: 10.1111/odi.12400. PMID: 26600092
Kokich VO Jr, Kinzer GA
J Esthet Restor Dent 2005;17(1):5-10. doi: 10.1111/j.1708-8240.2005.tb00076.x. PMID: 15934680
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Clinical prediction guides

Letra A
Curr Osteoporos Rep 2022 Dec;20(6):389-397. Epub 2022 Nov 15 doi: 10.1007/s11914-022-00761-8. PMID: 36378475Free PMC Article
Bonczek O, Krejci P, Izakovicova-Holla L, Cernochova P, Kiss I, Vojtesek B
Clin Genet 2021 Apr;99(4):493-502. Epub 2021 Feb 16 doi: 10.1111/cge.13892. PMID: 33249565
Al-Ani AH, Antoun JS, Thomson WM, Merriman TR, Farella M
Biomed Res Int 2017;2017:9378325. Epub 2017 Mar 19 doi: 10.1155/2017/9378325. PMID: 28401166Free PMC Article
Yin W, Bian Z
Oral Dis 2016 May;22(4):265-73. Epub 2016 Jan 13 doi: 10.1111/odi.12400. PMID: 26600092
Kokich VO Jr, Kinzer GA
J Esthet Restor Dent 2005;17(1):5-10. doi: 10.1111/j.1708-8240.2005.tb00076.x. PMID: 15934680

Recent systematic reviews

Cerezo-Cayuelas M, Pérez-Silva A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ
Orphanet J Rare Dis 2022 Oct 17;17(1):376. doi: 10.1186/s13023-022-02533-0. PMID: 36253866Free PMC Article
Antonarakis GS, Palaska PK, Suri S
Orthod Craniofac Res 2017 Nov;20(4):216-226. Epub 2017 Oct 13 doi: 10.1111/ocr.12204. PMID: 29027749
Phan M, Conte F, Khandelwal KD, Ockeloen CW, Bartzela T, Kleefstra T, van Bokhoven H, Rubini M, Zhou H, Carels CE
Hum Genet 2016 Dec;135(12):1299-1327. Epub 2016 Oct 3 doi: 10.1007/s00439-016-1733-z. PMID: 27699475Free PMC Article
Carter K, Worthington S
J Dent Res 2015 Jul;94(7):886-94. Epub 2015 Apr 16 doi: 10.1177/0022034515581644. PMID: 25883107
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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