PFE
MCID: FLR007
MIFTS: 22

Failure of Tooth Eruption, Primary (PFE)

Categories: Genetic diseases, Gastrointestinal 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 73
Primary Failure of Tooth Eruption 59 75 37
Primary Retention of Teeth 57 59 75
Pfe 57 59 75
Unerupted Second Primary Molar 57 75
Primary Failure of Eruption, Nonsyndromic 57
Posterior Openbite Malocclusion, Familial 57
Non-Syndromic Primary Failure of Eruption 75
Familial Posterior Openbite Malocclusion 75
Tooth Eruption, Failure, Primary 40
Dental Non-Eruption 75
Dental Noneruption 57

Characteristics:

Orphanet epidemiological data:

59
primary failure of tooth eruption
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
failure of tooth eruption, primary:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare odontological diseases


External Ids:

OMIM 57 125350
Orphanet 59 ORPHA412206
UMLS via Orphanet 74 C1852222
ICD10 via Orphanet 34 K00.8
MedGen 42 C1852222
MeSH 44 D014076
KEGG 37 H00680
ICD10 33 K00.6
SNOMED-CT via HPO 69 263681008 64969001 57650002
UMLS 73 C1852222

Summaries for Failure of Tooth Eruption, Primary

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Failure of Tooth Eruption, Primary, also known as primary failure of tooth eruption, is related to chondrodysplasia, blomstrand type. 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. Affiliated tissues include bone, and related phenotypes are hypodontia and persistence of primary teeth

Description from OMIM: 125350

Related Diseases for Failure of Tooth Eruption, Primary

Diseases related to Failure of Tooth Eruption, Primary via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chondrodysplasia, blomstrand type 11.1

Symptoms & Phenotypes for Failure of Tooth Eruption, Primary

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
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
hypodontia
more

Clinical features from OMIM:

125350

Human phenotypes related to Failure of Tooth Eruption, Primary:

32
# Description HPO Frequency HPO Source Accession
1 hypodontia 32 HP:0000668
2 persistence of primary teeth 32 HP:0006335
3 failure of eruption of permanent teeth 32 HP:0006352

Drugs & Therapeutics for Failure of Tooth Eruption, Primary

Search Clinical Trials , NIH Clinical Center for 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

MalaCards organs/tissues related to Failure of Tooth Eruption, Primary:

41
Bone

Publications for Failure of Tooth Eruption, Primary

Articles related to Failure of Tooth Eruption, Primary:

# Title Authors Year
1
PTH1R Mutants Found in Patients with Primary Failure of Tooth Eruption Disrupt G-Protein Signaling. ( 27898723 )
2016
2
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. ( 27019138 )
2016
3
Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption. ( 23771181 )
2014
4
Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption. ( 24058597 )
2013
5
Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese. ( 21404329 )
2011
6
PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. ( 19061984 )
2008

Variations for Failure of Tooth Eruption, Primary

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PTH1R PTH1R, IVS11AS, C-G, -3 single nucleotide variant Pathogenic
2 PTH1R PTH1R, IVS8DS, G-A, +1 single nucleotide variant Pathogenic
3 PTH1R NM_000316.2(PTH1R): c.463G> T (p.Glu155Ter) single nucleotide variant Pathogenic rs121434605 GRCh37 Chromosome 3, 46939602: 46939602
4 PTH1R NM_000316.2(PTH1R): c.463G> T (p.Glu155Ter) single nucleotide variant Pathogenic rs121434605 GRCh38 Chromosome 3, 46898112: 46898112
5 PTH1R NM_000316.2(PTH1R): c.440G> A (p.Arg147His) single nucleotide variant Uncertain significance rs576428067 GRCh38 Chromosome 3, 46898089: 46898089
6 PTH1R NM_000316.2(PTH1R): c.440G> A (p.Arg147His) single nucleotide variant Uncertain significance rs576428067 GRCh37 Chromosome 3, 46939579: 46939579

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:

37
# 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

Sources for Failure of Tooth Eruption, Primary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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