Primary failure of tooth eruption
Synonyms: PFE · Primary retention of teeth
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare genetic odontologic disease characterized by failure of eruption of non-ankylosed permanent teeth without evidence of obvious mechanical obstruction. Posterior teeth are preferentially affected (typically with involvement of all teeth distal to the most mesial non-erupted tooth), resulting in a posterior open bite. Non-ankylosed teeth tend to become ankylosed, and orthodontic treatment of affected teeth is generally unsuccessful.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary failure of tooth eruption | PFE · Primary retention of teeth |
| fr | Défaut primaire d'éruption | DPE · Echec primaire d'éruption · PFE |
| de | Zahndurchbruchstörung, primäre | PFE |
| es | Fracaso primario de la erupción dentaria | PFE · Retención primaria de los dientes |
| it | Deficit primitivo dell'eruzione dei denti | PFE · Ritenzione primitiva dei denti |
| nl | Primair falen van tanderuptie | PFE · Primaire retentie van de tanden |
| pt | Falência primária da erupção dentária | |
| pl | Pierwotny brak wyrżnięcia zęba | PFE · Pierwotne zatrzymanie zębów |
| cs | Primární retence zubů | PFE · Primární selhání erupce zubu |
| uk | Первинне порушення прорізування зубів | PFE · Первинна ретенція зубів |
| zh | 原发性牙萌出障碍 | 原发性牙萌出障碍 |
| tr | Primer diş çıkarma yetersizliği | PFE · primer diş tutulması |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125350 | E | validated | |
| ICD-10 | K00.6 | NTBT | attributed | validated |
| ICD-11 | DA07.6Y | NTBT | attributed | validated |
| MONDO | 0007434 | E | validated | |
| MeSH | C565114 | E | validated | |
| UMLS | C1852222 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:420755Rare genetic odontal or periodontal disorder
rare genetic diseases - ORPHA:164001Rare odontal or periodontal disorder
rare odontological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTH1R | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9608 | ENSG00000160801 | 168468 | 3p21.31 | parathyroid hormone 1 receptor | 19061984[PMID]_23910200[PMID]_20830195[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 314 cases | Worldwide | Case(s) | Validated | 29544499[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29544499[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/412206
- This record as JSON: /data/d/412206.json