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Primary failure of tooth eruption(PFE)

MedGen UID:
338882
Concept ID:
C1852222
Disease or Syndrome
Synonyms: DENTAL NONERUPTION; POSTERIOR OPENBITE MALOCCLUSION, FAMILIAL; PRIMARY RETENTION OF TEETH; UNERUPTED SECOND PRIMARY MOLAR
SNOMED CT: Primary failure of tooth eruption (1231153007); PFE - primary failure of tooth eruption (1231153007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): PTH1R (3p21.31)
 
Monarch Initiative: MONDO:0007434
OMIM®: 125350
Orphanet: ORPHA412206

Definition

Primary failure of tooth eruption (PFE) is an autosomal dominant disorder in which nonankylosed posterior teeth fail to move along the eruption path cleared for them, resulting in a posterior open bite. Failure of affected teeth to respond to orthodontic force is a key characteristic (summary by Frazier-Bowers et al., 2007). See also 157950 and 273050 for phenotypes with shared features of PFE. [from OMIM]

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.
Persistence of primary teeth
MedGen UID:
75597
Concept ID:
C0266050
Disease or Syndrome
Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.
Failure of eruption of permanent teeth
MedGen UID:
870606
Concept ID:
C4025056
Anatomical Abnormality
Lack of tooth eruption of the secondary dentition.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimary failure of tooth eruption

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
Grizzo IC, Bisaia A, Di Leone CCL, Di Campli FGR, Mendonça FL, Rios D
Gen Dent 2022 Sep-Oct;70(5):62-66. PMID: 35993936
Rhoads SG, Hendricks HM, Frazier-Bowers SA
Am J Orthod Dentofacial Orthop 2013 Aug;144(2):194-202. doi: 10.1016/j.ajodo.2013.03.015. PMID: 23910200

Recent clinical studies

Etiology

Hanisch M, Hanisch L, Kleinheinz J, Jung S
Head Face Med 2018 Mar 15;14(1):5. doi: 10.1186/s13005-018-0163-7. PMID: 29544499Free PMC Article
Kanno CM, de Oliveira JA, Garcia JF, Roth H, Weber BH
Am J Orthod Dentofacial Orthop 2017 Mar;151(3):598-606. doi: 10.1016/j.ajodo.2016.09.012. PMID: 28257744
Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, Switala M, Gasse B, Laugel-Haushalter V, Paschaki M, Leheup B, Droz D, Dalstein A, Loing A, Grollemund B, Muller-Bolla M, Lopez-Cazaux S, Minoux M, Jung S, Obry F, Vogt V, Davideau JL, Davit-Beal T, Kaiser AS, Moog U, Richard B, Morrier JJ, Duprez JP, Odent S, Bailleul-Forestier I, Rousset MM, Merametdijan L, Toutain A, Joseph C, Giuliano F, Dahlet JC, Courval A, El Alloussi M, Laouina S, Soskin S, Guffon N, Dieux A, Doray B, Feierabend S, Ginglinger E, Fournier B, de la Dure Molla M, Alembik Y, Tardieu C, Clauss F, Berdal A, Stoetzel C, Manière MC, Dollfus H, Bloch-Zupan A
J Med Genet 2016 Feb;53(2):98-110. Epub 2015 Oct 26 doi: 10.1136/jmedgenet-2015-103302. PMID: 26502894Free PMC Article

Diagnosis

Zha Y, Li S, Yu YL, Huang Z, Zhang HY, Kong W
BMC Oral Health 2023 Jul 21;23(1):509. doi: 10.1186/s12903-023-03226-1. PMID: 37480042Free PMC Article
Demaret T, Wintjens R, Sana G, Docquir J, Bertin F, Ide C, Monestier O, Karadurmus D, Benoit V, Maystadt I
Front Endocrinol (Lausanne) 2022;13:928284. Epub 2022 Jun 30 doi: 10.3389/fendo.2022.928284. PMID: 35846276Free PMC Article
Hanisch M, Hanisch L, Kleinheinz J, Jung S
Head Face Med 2018 Mar 15;14(1):5. doi: 10.1186/s13005-018-0163-7. PMID: 29544499Free PMC Article
Kanno CM, de Oliveira JA, Garcia JF, Roth H, Weber BH
Am J Orthod Dentofacial Orthop 2017 Mar;151(3):598-606. doi: 10.1016/j.ajodo.2016.09.012. PMID: 28257744
Reis MT, Matias DT, Faria ME, Martin RM
Bone 2016 Apr;85:138-41. Epub 2016 Feb 5 doi: 10.1016/j.bone.2016.02.002. PMID: 26855372

Prognosis

Zha Y, Li S, Yu YL, Huang Z, Zhang HY, Kong W
BMC Oral Health 2023 Jul 21;23(1):509. doi: 10.1186/s12903-023-03226-1. PMID: 37480042Free PMC Article
Assiry AA, Albalawi AM, Zafar MS, Khan SD, Ullah A, Almatrafi A, Ramzan K, Basit S
Sci Rep 2019 Nov 11;9(1):16469. doi: 10.1038/s41598-019-52935-7. PMID: 31712638Free PMC Article
Hanisch M, Hanisch L, Kleinheinz J, Jung S
Head Face Med 2018 Mar 15;14(1):5. doi: 10.1186/s13005-018-0163-7. PMID: 29544499Free PMC Article
Kanno CM, de Oliveira JA, Garcia JF, Roth H, Weber BH
Am J Orthod Dentofacial Orthop 2017 Mar;151(3):598-606. doi: 10.1016/j.ajodo.2016.09.012. PMID: 28257744
Risom L, Christoffersen L, Daugaard-Jensen J, Hove HD, Andersen HS, Andresen BS, Kreiborg S, Duno M
PLoS One 2013;8(9):e74601. Epub 2013 Sep 18 doi: 10.1371/journal.pone.0074601. PMID: 24058597Free PMC Article

Clinical prediction guides

Zha Y, Li S, Yu YL, Huang Z, Zhang HY, Kong W
BMC Oral Health 2023 Jul 21;23(1):509. doi: 10.1186/s12903-023-03226-1. PMID: 37480042Free PMC Article
Assiry AA, Albalawi AM, Zafar MS, Khan SD, Ullah A, Almatrafi A, Ramzan K, Basit S
Sci Rep 2019 Nov 11;9(1):16469. doi: 10.1038/s41598-019-52935-7. PMID: 31712638Free PMC Article
Hanisch M, Hanisch L, Kleinheinz J, Jung S
Head Face Med 2018 Mar 15;14(1):5. doi: 10.1186/s13005-018-0163-7. PMID: 29544499Free PMC Article
Kanno CM, de Oliveira JA, Garcia JF, Roth H, Weber BH
Am J Orthod Dentofacial Orthop 2017 Mar;151(3):598-606. doi: 10.1016/j.ajodo.2016.09.012. PMID: 28257744
Risom L, Christoffersen L, Daugaard-Jensen J, Hove HD, Andersen HS, Andresen BS, Kreiborg S, Duno M
PLoS One 2013;8(9):e74601. Epub 2013 Sep 18 doi: 10.1371/journal.pone.0074601. PMID: 24058597Free PMC Article

Recent systematic reviews

Hanisch M, Hanisch L, Kleinheinz J, Jung S
Head Face Med 2018 Mar 15;14(1):5. doi: 10.1186/s13005-018-0163-7. PMID: 29544499Free PMC Article

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