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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

Altunoglu U, Palencia-Campos A, Güneş N, Turgut GT, Nevado J, Lapunzina P, Valencia M, Iturrate A, Otaify G, Elhossini R, Ashour A, K Amin A, Elnahas RF, Fernandez-Nuñez E, Flores CL, Arias P, Tenorio J, Chamorro Fernández CI, Güven Y, Özsu E, Eklioğlu BS, Ibarra-Ramirez M, Diness BR, Burnyte B, Ajmi H, Yüksel Z, Yıldırım R, Ünal E, Abdalla E, Aglan M, Kayserili H, Tuysuz B, Ruiz-Pérez V
J Med Genet 2024 Jun 20;61(7):633-644. doi: 10.1136/jmg-2023-109546. PMID: 38531627
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
Colletti G, Frigerio A, Giovanditto F, Biglioli F, Chiapasco M, Grimmer JF
J Oral Maxillofac Surg 2014 Jul;72(7):1326.e1-18. Epub 2014 Feb 15 doi: 10.1016/j.joms.2014.02.012. PMID: 24768420
Baccetti T
Angle Orthod 1998 Jun;68(3):267-74. doi: 10.1043/0003-3219(1998)068<0267:ACSOAD>2.3.CO;2. PMID: 9622764
Rittersma J
J Oral Surg 1981 Nov;39(11):903-6. PMID: 6945417

Diagnosis

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
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
Gros CI, Clauss F, Obry F, Manière MC, Schmittbuhl M
Oral Dis 2010 Apr;16(3):292-8. doi: 10.1111/j.1601-0825.2009.01641.x. PMID: 20374512
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
Baccetti T
Angle Orthod 1998 Jun;68(3):267-74. doi: 10.1043/0003-3219(1998)068<0267:ACSOAD>2.3.CO;2. PMID: 9622764

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
Swee J, Silvestri AR Jr, Finkelman MD, Rich AP, Alexander SA, Loo CY
J Am Dent Assoc 2013 Apr;144(4):389-95. doi: 10.14219/jada.archive.2013.0132. PMID: 23543693
Yusoff N, Jaafar N, Razak IA, Chew YY, Ismail N, Bulgiba AM
Community Dent Health 2008 Mar;25(1):55-8. PMID: 18435236
Otis LL, Hong JS, Tuncay OC
Orthod Craniofac Res 2004 Aug;7(3):165-77. doi: 10.1111/j.1601-6343.2004.00282.x. PMID: 15359503
Onyeaso CO
Odontostomatol Trop 2003 Jun;26(102):25-9. PMID: 14560680

Prognosis

Robbins JW
Int J Periodontics Restorative Dent 2024 May 24;44(3):250-251. doi: 10.11607/prd.2024.3.e. PMID: 38787712
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
Swee J, Silvestri AR Jr, Finkelman MD, Rich AP, Alexander SA, Loo CY
J Am Dent Assoc 2013 Apr;144(4):389-95. doi: 10.14219/jada.archive.2013.0132. PMID: 23543693
Shah AJ, Kapoor N, Weinberg KI, Crooks GM, Kohn DB, Lenarsky C, Kaufman F, Epport K, Wilson K, Parkman R
Biol Blood Marrow Transplant 2002;8(4):221-8. doi: 10.1053/bbmt.2002.v8.pm12014811. PMID: 12014811
Rittersma J
J Oral Surg 1981 Nov;39(11):903-6. PMID: 6945417

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
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
Rittersma J
J Oral Surg 1981 Nov;39(11):903-6. PMID: 6945417

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

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