RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:412206

Primary failure of tooth eruption

low confidenceDisorder

Also known as: PFE · Primary retention of teeth

Publications

3,166

Trials

0

Interventional, condition-specific

Researchers

548

Distinct authors in sample

Gene link

PTH1R

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 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.

  1. Gene identifiedPresent

    Definitive — PTH1R

  2. LiteraturePresent

    3,166 matched papers (2,216 in last 10 years) Source

  3. Phenotype characterisedPresent

    3 HPO annotations (e.g. Hypodontia; Persistence of primary teeth; Failure of eruption of permanent teeth) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

3

Associated phenotypes · MONDO:0007434

  • Hypodontia
  • Persistence of primary teeth
  • Failure of eruption of permanent teeth

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,166

3,166 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

3,166 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

2,216 in the last 10 years · low confidence

Phrase hits: 82 · MeSH hits: 2

Open Europe PMC search

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.

  1. 01
    Gardella TJ7 papers · 2026

    Endocrine Unit, Massachusetts General Hospital, 50 Blossom Street, Boston, MA 02114, USA.

    Papers in Europe PMC
  2. 02
    Jüppner H7 papers · 2026

    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  3. 03
    Bloch-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
  4. 04
    Chiurazzi P4 papers · 2026

    Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario "A.Gemelli" IRCCS, Roma, Italy.

    Papers in Europe PMC
  5. 05
    Grippaudo 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
  6. 06
    Ono N4 papers · 2024

    Department of Orthodontics and Pediatric Dentistry, School of Dentistry, University of Michigan, Ann Arbor, MI, USA.

    Papers in Europe PMC
  7. 07
    Ono W4 papers · 2024

    Department of Orthodontics and Pediatric Dentistry, School of Dentistry, University of Michigan, Ann Arbor, MI, USA.

    Papers in Europe PMC
  8. 08
    Portales-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
  9. 09
    Vilardaga 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
  10. 10
    Dean 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 22 · after dedupe 22 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 22 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (22)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Primary failure of tooth eruption — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR (MESH:"Failure of Tooth Eruption, Primary") OR ("PTH1R" OR "PTH1R syndrome" OR "PTH1R-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; 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
  • Publication count (3166) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T15:45:09.750Z