ORPHA:412206
Primary failure of tooth eruption
Also known as: PFE · Primary retention of teeth
Publications
83
56.7th percentile
Trials
0
Interventional, condition-specific
Researchers
548
Distinct authors in sample
Gene link
PTH1R
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
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.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007434
- MeSH:C565114
- OMIM:125350
- UMLS:C1852222
Additional Mondo synonyms (1)
primary retention of teeth
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — PTH1R
- LiteraturePresent
83 matched papers (59 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (PTH1R).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
83
83 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
83 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
59 in the last 10 years · medium confidence · 56.7th percentile (publications denominator)
Phrase hits: 82 · MeSH hits: 2
Who's working on it?
548
Distinct author names in 83 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Gardella TJ7 papers · 2026
Endocrine Unit, Massachusetts General Hospital, 50 Blossom Street, Boston, MA 02114, USA.
Papers in Europe PMC - 02Jüppner H7 papers · 2026
Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Papers in Europe PMC - 03Bloch-Zupan A4 papers · 2025
Faculté de Chirurgie Dentaire, Institut d'Etudes Avancées, USIAS, FMTS, RARENET Interreg V, Université de Strasbourg, Strasbourg, France.
Papers in Europe PMC - 04Chiurazzi P4 papers · 2026
Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario "A.Gemelli" IRCCS, Roma, Italy.
Papers in Europe PMC - 05Grippaudo C4 papers · 2026
Istituto di Clinica Odontoiatrica, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario "A.Gemelli" IRCCS, Roma, Italy. cristina.grippaudo@unicatt.it.
Papers in Europe PMC - 06Ono N4 papers · 2024
Department of Orthodontics and Pediatric Dentistry, School of Dentistry, University of Michigan, Ann Arbor, MI, USA.
Papers in Europe PMC - 07Ono W4 papers · 2024
Department of Orthodontics and Pediatric Dentistry, School of Dentistry, University of Michigan, Ann Arbor, MI, USA.
Papers in Europe PMC - 08Portales-Castillo I4 papers · 2025
Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Thier Research Building, 50 Blossom St, Boston, MA, 02114, USA.
Papers in Europe PMC - 09Vilardaga JP4 papers · 2023
Laboratory for GPCR Biology, Department of Pharmacology and Chemical Biology, University of Pittsburgh School of Medicine, 200 Lothrop Street, Pittsburgh, PA 15213, USA.
Papers in Europe PMC - 10Dean T3 papers · 2025
Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Thier Research Building, 50 Blossom St, Boston, MA, 02114, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Primary failure of tooth eruption" OR "Primary failure of the tooth eruption" OR "Primary retention of teeth" OR "Primary retention of the teeth"
MeSH descriptor terms unioned into the query: Failure of Tooth Eruption, Primary
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Primary failure of tooth eruption" OR "Primary failure of the tooth eruption" OR "Primary retention of teeth" OR "Primary retention of the teeth" OR "Failure of Tooth Eruption, Primary" OR "PTH1R"
Recall-expansion terms: PTH1R
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: PFE
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T15:45:09.750Z