FAILURE OF TOOTH ERUPTION, PRIMARY

General Information (adopted from Orphanet):

Synonyms, Signs: POSTERIOR OPENBITE, FAMILIAL
PRIMARY FAILURE OF ERUPTION, NONSYNDROMIC
UNERUPTED SECOND PRIMARY MOLAR
PRIMARY RETENTION OF TEETH
DENTAL NONERUPTION
PFE
Number of Symptoms 9
OrphanetNr:
OMIM Id: 125350
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0006352) Failure of eruption of permanent teeth 2 / 7739
2
(HPO:0000668) Hypodontia 81 / 7739
3
(HPO:0006335) Persistence of primary teeth 12 / 7739
4
(OMIM) Often unilateral, rarely symmetric 1 / 7739
5
(OMIM) Posterior openbite 1 / 7739
6
(OMIM) Ankylosis of deciduous teeth (some) 1 / 7739
7
(OMIM) Primary failure of tooth eruption (1st and 2nd molar teeth most commonly affected) 1 / 7739
8
(OMIM) Lack of response to orthodontic force 1 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shokeir (1974) described autosomal dominant inheritance of failure of eruption of permanent teeth. The primary dentition persisted in the adult; however, the proband showed complete or partial eruption of 11 permanent teeth.

Proffit and Vig (1981) ...

Molecular genetics OMIM In a 3-generation German family segregating autosomal dominant PFE mapping to a 31.8-Mb interval on chromosome 3p24.3-p14.3, Decker et al. (2008) analyzed the candidate gene PTHR1 (168468) and identified heterozygosity for a splice site mutation (168468.0001) in affected ...