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Tooth agenesis, selective, 7(STHAG7)

MedGen UID:
899184
Concept ID:
C4225231
Disease or Syndrome
Synonym: STHAG7
 
Gene (location): LRP6 (12p13.2)
 
Monarch Initiative: MONDO:0014749
OMIM®: 616724

Definition

Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene. [from MONDO]

Clinical features

From HPO
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.
Agenesis of permanent teeth
MedGen UID:
224851
Concept ID:
C1290511
Congenital Abnormality
A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.

Professional guidelines

PubMed

Fastovets OO, Kotelevskyi RA, Matvyeyenko RY
Wiad Lek 2018;71(9):1738-1741. PMID: 30737932
Enaia M, Bock N, Ruf S
Am J Orthod Dentofacial Orthop 2011 Jul;140(1):e17-24. doi: 10.1016/j.ajodo.2010.12.016. PMID: 21724067

Recent clinical studies

Etiology

Kim SJ, Kim EH, Lee M, Baek JY, Lee JY, Shin JH, Lim SM, Kim MY, Jung I, Ahn JG, Kang CM, Kang JM
Yonsei Med J 2022 Dec;63(12):1113-1120. doi: 10.3349/ymj.2022.0388. PMID: 36444547Free PMC Article
Spitz MA, Severac F, Obringer C, Baer S, Le May N, Calmels N, Laugel V
Orphanet J Rare Dis 2021 Feb 3;16(1):63. doi: 10.1186/s13023-021-01686-8. PMID: 33536051Free PMC Article
Peacock ZS, Salcines A, Troulis MJ, Kaban LB
J Oral Maxillofac Surg 2018 Jul;76(7):1512-1523. Epub 2018 Jan 31 doi: 10.1016/j.joms.2017.12.034. PMID: 29425758
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

Diagnosis

Aydın H, Mobaraki S
Arch Oral Biol 2021 Oct;130:105242. Epub 2021 Aug 13 doi: 10.1016/j.archoralbio.2021.105242. PMID: 34411883
Passarelli PC, Pasquantonio G, Manicone PF, Cerroni L, Condo' R, Mancini M, D'Addona A
Medicine (Baltimore) 2018 May;97(18):e0656. doi: 10.1097/MD.0000000000010656. PMID: 29718885Free PMC Article
Seabra M, Felino A, Nogueira R, Valente F, Braga AC, Vaz P
Head Face Med 2015 May 12;11:18. doi: 10.1186/s13005-015-0075-8. PMID: 25962445Free PMC Article
Khalaf K, Miskelly J, Voge E, Macfarlane TV
J Orthod 2014 Dec;41(4):299-316. doi: 10.1179/1465313314Y.0000000116. PMID: 25404667
Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, Verloes A
Eur J Med Genet 2008 Sep-Oct;51(5):383-408. Epub 2008 May 23 doi: 10.1016/j.ejmg.2008.05.003. PMID: 18599376

Therapy

Fonseca-Souza G, de Oliveira LB, Wambier LM, Scariot R, Feltrin-Souza J
Clin Oral Investig 2022 Aug;26(8):5089-5103. Epub 2022 Jun 21 doi: 10.1007/s00784-022-04540-8. PMID: 35729285
Aydın H, Mobaraki S
Arch Oral Biol 2021 Oct;130:105242. Epub 2021 Aug 13 doi: 10.1016/j.archoralbio.2021.105242. PMID: 34411883
Awadh W, Kiukkonen A, Nieminen P, Arte S, Hurmerinta K, Rice DP
Am J Med Genet A 2017 Apr;173(4):905-913. Epub 2017 Feb 9 doi: 10.1002/ajmg.a.38088. PMID: 28181393
Seabra M, Felino A, Nogueira R, Valente F, Braga AC, Vaz P
Head Face Med 2015 May 12;11:18. doi: 10.1186/s13005-015-0075-8. PMID: 25962445Free PMC Article
Schütz S, Beck I, Kühl S, Filippi A
Schweiz Monatsschr Zahnmed 2013;123(4):303-13. PMID: 23640290

Prognosis

Robbins JW
Int J Periodontics Restorative Dent 2024 May 24;44(3):250-251. doi: 10.11607/prd.2024.3.e. PMID: 38787712
Spitz MA, Severac F, Obringer C, Baer S, Le May N, Calmels N, Laugel V
Orphanet J Rare Dis 2021 Feb 3;16(1):63. doi: 10.1186/s13023-021-01686-8. PMID: 33536051Free PMC Article
Fastovets OO, Kotelevskyi RA, Matvyeyenko RY
Wiad Lek 2018;71(9):1738-1741. PMID: 30737932
Prokocimer T, Amir E, Blumer S, Peretz B
J Clin Pediatr Dent 2015 Summer;39(4):371-6. doi: 10.17796/1053-4628-39.4.371. PMID: 26161610
Carter K, Worthington S
J Dent Res 2015 Jul;94(7):886-94. Epub 2015 Apr 16 doi: 10.1177/0022034515581644. PMID: 25883107

Clinical prediction guides

Robbins JW
Int J Periodontics Restorative Dent 2024 May 24;44(3):250-251. doi: 10.11607/prd.2024.3.e. PMID: 38787712
Hitij T, Štamfelj I
Folia Morphol (Warsz) 2020;79(1):127-133. Epub 2019 May 7 doi: 10.5603/FM.a2019.0054. PMID: 31063199
Prokocimer T, Amir E, Blumer S, Peretz B
J Clin Pediatr Dent 2015 Summer;39(4):371-6. doi: 10.17796/1053-4628-39.4.371. PMID: 26161610
Carter K, Worthington S
J Dent Res 2015 Jul;94(7):886-94. Epub 2015 Apr 16 doi: 10.1177/0022034515581644. PMID: 25883107
Schütz S, Beck I, Kühl S, Filippi A
Schweiz Monatsschr Zahnmed 2013;123(4):303-13. PMID: 23640290

Recent systematic reviews

Bastos RTDRM, Dos Santos CCO, Bellini-Pereira SA, Normando D
Int J Paediatr Dent 2024 Jul;34(4):348-359. Epub 2023 Oct 24 doi: 10.1111/ipd.13131. PMID: 37876132
Fonseca-Souza G, de Oliveira LB, Wambier LM, Scariot R, Feltrin-Souza J
Clin Oral Investig 2022 Aug;26(8):5089-5103. Epub 2022 Jun 21 doi: 10.1007/s00784-022-04540-8. PMID: 35729285
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

Supplemental Content

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