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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

The effect of endodontics and crown restoration techniques on the prognosis of treatment non-vital teeth.
Fastovets OO, Kotelevskyi RA, Matvyeyenko RY
Wiad Lek 2018;71(9):1738-1741. PMID: 30737932
White-spot lesions during multibracket appliance treatment: A challenge for clinical excellence.
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

Tooth abnormalities associated with non-syndromic cleft lip and palate: systematic review and meta-analysis.
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
Consecutive tooth agenesis patterns in non-syndromic oligodontia.
Baba R, Sato A, Arai K
Odontology 2022 Jan;110(1):183-192. Epub 2021 Jul 8 doi: 10.1007/s10266-021-00634-z. PMID: 34236541
Rare and Common Variants Conferring Risk of Tooth Agenesis.
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
Morphologic and Demographic Predictors of Third Molar Agenesis: A Systematic Review and Meta-analysis.
Carter K, Worthington S
J Dent Res 2015 Jul;94(7):886-94. Epub 2015 Apr 16 doi: 10.1177/0022034515581644. PMID: 25883107
Prevalence of hypodontia and associated factors: a systematic review and meta-analysis.
Khalaf K, Miskelly J, Voge E, Macfarlane TV
J Orthod 2014 Dec;41(4):299-316. doi: 10.1179/1465313314Y.0000000116. PMID: 25404667

Diagnosis

Evaluation of the prevalence of dental agenesis through the use of orthopantomography in a sample of subjects residing in Lombardy and Piedmont regions.
Nobili A, Butti AC, Mulè G, Clivio A, Re D
Eur J Paediatr Dent 2023 Dec 1;24(4):287 - 291. Epub 2023 Nov 1 doi: 10.23804/ejpd.2023.1925. PMID: 37934061
Prevalence of Premature Eruption and Agenesis of Premolars in Turkish Children: A Retrospective Study.
Koc N, Ballikaya E, Cehreli ZC
J Clin Pediatr Dent 2021 Jan 1;45(1):58-62. doi: 10.17796/1053-4625-45.1.11. PMID: 33690831
Diagnostic and severity scores for Cockayne syndrome.
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
Orofacial signs and dental abnormalities in patients with Mulvihill-Smith syndrome: A literature review on this rare progeroid pathology.
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
Prevalence of hypodontia and associated factors: a systematic review and meta-analysis.
Khalaf K, Miskelly J, Voge E, Macfarlane TV
J Orthod 2014 Dec;41(4):299-316. doi: 10.1179/1465313314Y.0000000116. PMID: 25404667

Therapy

Tooth abnormalities associated with non-syndromic cleft lip and palate: systematic review and meta-analysis.
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
Comparison of root and canal anatomy of taurodont and normal molar teeth: A retrospective cone-beam computed tomography study.
Aydın H, Mobaraki S
Arch Oral Biol 2021 Oct;130:105242. Epub 2021 Aug 13 doi: 10.1016/j.archoralbio.2021.105242. PMID: 34411883
The effect of endodontics and crown restoration techniques on the prognosis of treatment non-vital teeth.
Fastovets OO, Kotelevskyi RA, Matvyeyenko RY
Wiad Lek 2018;71(9):1738-1741. PMID: 30737932
Results after wisdom tooth transplantation. A retrospective study.
Schütz S, Beck I, Kühl S, Filippi A
Schweiz Monatsschr Zahnmed 2013;123(4):303-13. PMID: 23640290
Bone structure effect on root resorption.
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

Prognosis

Diagnostic and severity scores for Cockayne syndrome.
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
The effect of endodontics and crown restoration techniques on the prognosis of treatment non-vital teeth.
Fastovets OO, Kotelevskyi RA, Matvyeyenko RY
Wiad Lek 2018;71(9):1738-1741. PMID: 30737932
Birth-Weight, Pregnancy Term, Pre-Natal and Natal Complications Related to Child's Dental Anomalies.
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
Morphologic and Demographic Predictors of Third Molar Agenesis: A Systematic Review and Meta-analysis.
Carter K, Worthington S
J Dent Res 2015 Jul;94(7):886-94. Epub 2015 Apr 16 doi: 10.1177/0022034515581644. PMID: 25883107
Bone structure effect on root resorption.
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

Clinical prediction guides

Tooth abnormalities associated with non-syndromic cleft lip and palate: systematic review and meta-analysis.
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
Diagnostic and severity scores for Cockayne syndrome.
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
The role of clinical examination in the detection of permanent maxillary molars with two palatal roots.
Hitij T, Štamfelj I
Folia Morphol (Warsz) 2020;79(1):127-133. Epub 2019 May 7 doi: 10.5603/FM.a2019.0054. PMID: 31063199
Prevalence and patterns of tooth agenesis in Angle Class II Division 2 malocclusion in Japan.
Ota K, Arai K
Am J Orthod Dentofacial Orthop 2015 Jul;148(1):123-9. doi: 10.1016/j.ajodo.2015.02.023. PMID: 26124035
Morphologic and Demographic Predictors of Third Molar Agenesis: A Systematic Review and Meta-analysis.
Carter K, Worthington S
J Dent Res 2015 Jul;94(7):886-94. Epub 2015 Apr 16 doi: 10.1177/0022034515581644. PMID: 25883107

Recent systematic reviews

Tooth abnormalities associated with non-syndromic cleft lip and palate: systematic review and meta-analysis.
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
Morphologic and Demographic Predictors of Third Molar Agenesis: A Systematic Review and Meta-analysis.
Carter K, Worthington S
J Dent Res 2015 Jul;94(7):886-94. Epub 2015 Apr 16 doi: 10.1177/0022034515581644. PMID: 25883107
Prevalence of hypodontia and associated factors: a systematic review and meta-analysis.
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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