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ORPHA:49042

Dentinogenesis imperfecta

medium confidenceDisorder

Also known as: DGI · DGI without OI · DI · Dentinogenesis imperfecta without osteogenesis imperfecta · Non-syndromic DGI · Non-syndromic dentinogenesis imperfecta · Opalescent teeth without OI · Opalescent teeth without osteogenesis imperfecta

Publications

6,412

94th percentile

Trials

1

Interventional, condition-specific

Researchers

1,086

Distinct authors in sample

Gene link

DSPP

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Dentinogenesis imperfecta (DGI) is a dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

dentinogenesis imperfecta · dentinogenesis imperfecta (disease) · dentinogenesis imperfecta without osteogenesis imperfecta · non-syndromic DGI · non-syndromic dentinogenesis imperfecta · opalescent teeth without OI · opalescent teeth without osteogenesis imperfecta

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — DSPP

  2. LiteraturePresent

    6,412 matched papers (4,370 in last 10 years) Source

  3. Phenotype characterisedPresent

    32 HPO annotations (e.g. Odontodysplasia; Joint hypermobility; Abnormal dental pulp morphology) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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 (DSPP).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

32

Associated phenotypes · MONDO:0018849

  • Odontodysplasia
  • Joint hypermobility
  • Abnormal dental pulp morphology
  • Knee joint hypermobility
  • Hearing impairment

Showing 5 of 32 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

6,412

6,412 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

6,412 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).

4,370 in the last 10 years · medium confidence · 94th percentile (publications denominator)

Phrase hits: 2,417 · MeSH hits: 91

Open Europe PMC search

Who's working on it?

1,086

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Chen Z5 papers · 2026

    Department of Endodontics, School of Stomatology, Wuhan University, Wuhan 430079, China.

    Papers in Europe PMC
  2. 02
    Pan Y4 papers · 2026

    Department of Stomatology, Nanfang Hospital, Southern Medical University, Guangzhou, China.

    Papers in Europe PMC
  3. 03
    Porntaveetus T4 papers · 2026

    Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Clinical Research Center, Faculty of Dentistry, Chulalongkorn University, Bangkok 10330, Thailand.

    Papers in Europe PMC
  4. 04
    Song Y4 papers · 2026

    Department of oral mucosa, Shanghai Stomatological Hospital, Fudan University, Shanghai, P. R. China.

    Papers in Europe PMC
  5. 05
    Abdel-Hamid MS3 papers · 2025

    Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. Electronic address: mohamadnrc@hotmail.com.

    Papers in Europe PMC
  6. 06
    Acevedo C3 papers · 2026

    Department of Mechanical and Aerospace Engineering, University of California San Diego, San Diego, CA 92093, USA.

    Papers in Europe PMC
  7. 07
    De La Dure-Molla M3 papers · 2026

    Reference Center of Oral and Dental Rare Diseases. Hôpital Rothschild, Odontology Department, APHP, Paris, France; Department of Mechanical and Aerospace Engineering, University of California San Diego, San Diego, CA 92093, USA.

    Papers in Europe PMC
  8. 08
    Du Q3 papers · 2025

    Department of Stomatology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.

    Papers in Europe PMC
  9. 09
    Eekhoff EMW3 papers · 2025

    Amsterdam Reproduction and Development, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.

    Papers in Europe PMC
  10. 10
    Franzone JM3 papers · 2026

    Department of Orthopedics, Nemours Children's Hospital, Wilmington, DE, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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 (1)

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 Dentinogenesis imperfecta — 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.

("Dentinogenesis imperfecta" OR "DGI without OI" OR "Dentinogenesis imperfecta without osteogenesis imperfecta" OR "Non-syndromic DGI" OR "Non-syndromic dentinogenesis imperfecta" OR "Opalescent teeth without OI" OR "Opalescent teeth without osteogenesis imperfecta" OR "dentinogenesis imperfecta (disease)") OR (MESH:"Dentinogenesis Imperfecta") OR ("DSPP" OR "DSPP syndrome" OR "DSPP-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Dentinogenesis Imperfecta

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Dentinogenesis imperfecta" OR "DGI without OI" OR "Dentinogenesis imperfecta without osteogenesis imperfecta" OR "Non-syndromic DGI" OR "Non-syndromic dentinogenesis imperfecta" OR "Opalescent teeth without OI" OR "Opalescent teeth without osteogenesis imperfecta" OR "dentinogenesis imperfecta (disease)"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 1 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: DGI; DI

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T00:17:15.450Z