PFE
MCID: FLR007
MIFTS: 34

Failure of Tooth Eruption, Primary (PFE)

Categories: Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Failure of Tooth Eruption, Primary

MalaCards integrated aliases for Failure of Tooth Eruption, Primary:

Name: Failure of Tooth Eruption, Primary 57 29 13 6 44 70
Primary Failure of Tooth Eruption 12 58 72 36 15
Primary Retention of Teeth 57 12 58 72
Pfe 57 12 58 72
Unerupted Second Primary Molar 57 12 72
Familial Posterior Openbite Malocclusion 12 72
Dental Noneruption 57 12
Primary Failure of Tooth Eruption, Nonsyndromic 57
Posterior Openbite Malocclusion, Familial 57
Non-Syndromic Primary Failure of Eruption 72
Nonsyndromic Primary Failure of Eruption 12
Tooth Eruption, Failure, Primary 39
Dental Non-Eruption 72

Characteristics:

Orphanet epidemiological data:

58
primary failure of tooth eruption
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
failure of tooth eruption, primary:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0111341
OMIM® 57 125350
KEGG 36 H00680
ICD10 via Orphanet 33 K00.8
UMLS via Orphanet 71 C1852222
Orphanet 58 ORPHA412206
MedGen 41 C1852222
SNOMED-CT via HPO 68 263681008 57650002 64969001
UMLS 70 C1852222

Summaries for Failure of Tooth Eruption, Primary

OMIM® : 57 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. (125350) (Updated 05-Apr-2021)

MalaCards based summary : Failure of Tooth Eruption, Primary, also known as primary failure of tooth eruption, is related to chondrodysplasia, blomstrand type and skeletal dysplasias. An important gene associated with Failure of Tooth Eruption, Primary is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Endocrine and other factor-regulated calcium reabsorption. Related phenotypes are hypodontia and persistence of primary teeth

Disease Ontology : 12 A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has material basis in heterozygous mutation in PTHR1 on chromosome 3p21.31.

KEGG : 36 Primary failure of tooth eruption (PFE) is a condition in which tooth retention occurs without mechanical interference. Defects in PTHR1 are the cause of PFE.

UniProtKB/Swiss-Prot : 72 Primary failure of tooth eruption: Rare condition that has high penetrance and variable expressivity and in which tooth retention occurs without evidence of any obvious mechanical interference. Instead, malfunction of the eruptive mechanism itself appears to cause nonankylosed permanent teeth to fail to erupt, although the eruption pathway has been cleared by bone resorption.

Related Diseases for Failure of Tooth Eruption, Primary

Graphical network of the top 20 diseases related to Failure of Tooth Eruption, Primary:



Diseases related to Failure of Tooth Eruption, Primary

Symptoms & Phenotypes for Failure of Tooth Eruption, Primary

Human phenotypes related to Failure of Tooth Eruption, Primary:

31
# Description HPO Frequency HPO Source Accession
1 hypodontia 31 HP:0000668
2 persistence of primary teeth 31 HP:0006335
3 failure of eruption of permanent teeth 31 HP:0006352

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Teeth:
hypodontia
primary failure of tooth eruption (1st and 2nd molar teeth most commonly affected)
posterior openbite
often unilateral, rarely symmetric
lack of response to orthodontic force
more

Clinical features from OMIM®:

125350 (Updated 05-Apr-2021)

Drugs & Therapeutics for Failure of Tooth Eruption, Primary

Search Clinical Trials , NIH Clinical Center for Failure of Tooth Eruption, Primary

Cochrane evidence based reviews: failure of tooth eruption, primary

Genetic Tests for Failure of Tooth Eruption, Primary

Genetic tests related to Failure of Tooth Eruption, Primary:

# Genetic test Affiliating Genes
1 Failure of Tooth Eruption, Primary 29 PTH1R

Anatomical Context for Failure of Tooth Eruption, Primary

Publications for Failure of Tooth Eruption, Primary

Articles related to Failure of Tooth Eruption, Primary:

(show all 28)
# Title Authors PMID Year
1
PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. 6 57 61
19061984 2008
2
Primary failure of tooth eruption: a unique case. 57 61
10397664 1999
3
Primary failure of eruption: further characterization of a rare eruption disorder. 57
17482073 2007
4
The clinical features and aetiological basis of primary eruption failure. 57
17041084 2006
5
Primary failure of eruption in the permanent dentition of siblings. 57
11310101 2000
6
Inherited primary failure of eruption in the primary dentition: report of five cases. 57
9096818 1997
7
Primary impaction of primary teeth: a review and report of three cases. 57
1878326 1991
8
Primary failure of eruption: a possible cause of posterior open-bite. 57
6943937 1981
9
Familial reinclusion of permanent molars. 57
639339 1978
10
Complete failure of eruption of all permanent teeth: an autosomal dominant disorder. 57
4851123 1974
11
KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption. 61
31712638 2019
12
Primary failure of eruption of teeth in two siblings with a novel mutation in the PTH1R gene. 61
30904994 2019
13
Autocrine regulation of mesenchymal progenitor cell fates orchestrates tooth eruption. 61
30509999 2019
14
Primary failure of eruption (PFE): a systematic review. 61
29544499 2018
15
Congenital Vomer Agenesis: A Rare and Poorly Understood Condition Revealed by Cone Beam CT. 61
29439412 2018
16
Twenty-year follow-up of a familial case of PTH1R-associated primary failure of tooth eruption. 61
28257744 2017
17
A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family. 61
27019138 2016
18
Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels. 61
26855372 2016
19
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. 61
26502894 2016
20
PTH1R Mutants Found in Patients with Primary Failure of Tooth Eruption Disrupt G-Protein Signaling. 61
27898723 2016
21
Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption. 61
23771181 2014
22
Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption. 61
24058597 2013
23
Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese. 61
21404329 2011
24
Case report: Management of severe posterior open bite due to primary failure of eruption. 61
20507816 2010
25
Primary failure of tooth eruption associated with secondarily inflamed dental follicle: inflammatory follicular cyst? 61
17982555 2007
26
Failure of tooth eruption involving a mandibular primary first molar: a case report. 61
16119070 2005
27
Oral rehabilitation of a child with primary failure of tooth eruption. 61
10740503 1999
28
Primary failure of eruption: a case report. 61
1937846 1991

Variations for Failure of Tooth Eruption, Primary

ClinVar genetic disease variations for Failure of Tooth Eruption, Primary:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTH1R PTH1R, IVS8DS, G-A, +1 SNV Pathogenic 13753 GRCh37:
GRCh38:
2 PTH1R NM_000316.3(PTH1R):c.463G>T (p.Glu155Ter) SNV Pathogenic 13754 rs121434605 GRCh37: 3:46939602-46939602
GRCh38: 3:46898112-46898112
3 PTH1R NM_000316.3(PTH1R):c.611T>A (p.Val204Glu) SNV Pathogenic 592121 rs769180471 GRCh37: 3:46939935-46939935
GRCh38: 3:46898445-46898445
4 PTH1R NM_000316.3(PTH1R):c.1050-3C>G SNV Pathogenic 13752 rs1575524795 GRCh37: 3:46942901-46942901
GRCh38: 3:46901411-46901411
5 PTH1R NM_000316.3(PTH1R):c.440G>A (p.Arg147His) SNV Uncertain significance 523004 rs576428067 GRCh37: 3:46939579-46939579
GRCh38: 3:46898089-46898089

Expression for Failure of Tooth Eruption, Primary

Search GEO for disease gene expression data for Failure of Tooth Eruption, Primary.

Pathways for Failure of Tooth Eruption, Primary

Pathways related to Failure of Tooth Eruption, Primary according to KEGG:

36
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080
2 Endocrine and other factor-regulated calcium reabsorption hsa04961

GO Terms for Failure of Tooth Eruption, Primary

Cellular components related to Failure of Tooth Eruption, Primary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 trans-Golgi network GO:0005802 8.8 RAB10 LRRK2 AP4M1

Biological processes related to Failure of Tooth Eruption, Primary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribosomal large subunit assembly GO:0000027 9.16 RPF2 MDN1
2 osteoblast development GO:0002076 8.96 PTHLH PTH1R
3 protein localization to basolateral plasma membrane GO:1903361 8.62 RAB10 AP4M1

Sources for Failure of Tooth Eruption, Primary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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