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ORPHA:166265

Dentinogenesis imperfecta type 3

low confidenceSubtype of disorder

Also known as: Dentinogenesis imperfecta, Shields type 3

Publications

4,401

Trials

0

Interventional, condition-specific

Researchers

654

Distinct authors in sample

Gene link

DSPP

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

DGI-III · Dentinogenesis Imperfecta Type III · brandywine type dentinogenesis imperfecta · dentinogenesis imperfecta Shields type 3 · dentinogenesis imperfecta type III · dentinogenesis imperfecta, Shields type 3 · dentinogenesis imperfecta, Shields type III

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — DSPP

  2. LiteraturePresent

    4,401 matched papers (3,336 in last 10 years) Source

  3. Phenotype characterisedPresent

    5 HPO annotations (e.g. Odontodysplasia; Periapical bone loss; Anterior open-bite malocclusion) 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 trialPartial

    None under the specific name; 1 for broader category dentinogenesis imperfecta

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: Strong.

Phenotypes (Monarch / HPO)

5

Associated phenotypes · MONDO:0007442

  • Odontodysplasia
  • Periapical bone loss
  • Anterior open-bite malocclusion
  • Dentinogenesis imperfecta
  • Dental enamel pits

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?

4,401

4,401 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.

4,401 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).

3,336 in the last 10 years · low confidence

Phrase hits: 140 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

654

Distinct author names in 140 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
    Chen S15 papers · 2025

    Department of Developmental Dentistry, University of Texas Health Science Center, San Antonio, Texas, 78229-3700, United States.

    Papers in Europe PMC
  2. 02
    Chen Z14 papers · 2026

    State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) and Key Laboratory for Oral Biomedicine of Ministry of Education (KLOBM), School and Hospital of Stomatology, Wuhan University, Wuhan, 430079, China.

    Papers in Europe PMC
  3. 03
    MacDougall M14 papers · 2022

    Center for Craniofacial Molecular Biology, School of Dentistry, University of Southern California, Los Angeles 90033.

    Papers in Europe PMC
  4. 04
    Simmer JP14 papers · 2025

    Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, USA.

    Papers in Europe PMC
  5. 05
    Hu JC13 papers · 2025

    Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, USA.

    Papers in Europe PMC
  6. 06
    Kim JW10 papers · 2022

    Seoul National University, School of Dentistry Department of Pediatric Dentistry & Dental Research Institute, 28-2 Yongon-dong, Chongno-gu, Seoul, Korea 110-749.

    Papers in Europe PMC
  7. 07
    Yuan G9 papers · 2026

    State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) and Key Laboratory for Oral Biomedicine of Ministry of Education (KLOBM), School and Hospital of Stomatology, Wuhan University, Wuhan, 430079, China.

    Papers in Europe PMC
  8. 08
    Yang G8 papers · 2026

    State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) and Key Laboratory for Oral Biomedicine of Ministry of Education (KLOBM), School and Hospital of Stomatology, Wuhan University, Wuhan, 430079, China.

    Papers in Europe PMC
  9. 09
    Zhang H8 papers · 2026

    Department of Biomedical Sciences, Texas A&M University College of Dentistry, Dallas, TX, United States of America.

    Papers in Europe PMC
  10. 10
    Chen L6 papers · 2017

    Department of Developmental Dentistry, University of Texas Health Science Center, San Antonio, Texas, 78229-3700, United States.

    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). 1 trial are registered for dentinogenesis imperfecta, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

1 interventional trial matched dentinogenesis imperfecta, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: dentinogenesis imperfecta

1

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

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 2026-07-30

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 (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 type 3 — 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 type 3" OR "Dentinogenesis imperfecta, Shields type 3" OR "DGI-III" OR "Dentinogenesis Imperfecta Type III" OR "brandywine type dentinogenesis imperfecta" OR "dentinogenesis imperfecta Shields type 3" OR "dentinogenesis imperfecta, Shields type III") OR (MESH:"Dentinogenesis imperfecta, shields type 3") OR ("DSPP" OR "DSPP syndrome" OR "DSPP-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Dentinogenesis imperfecta, shields type 3

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

"Dentinogenesis imperfecta type 3" OR "Dentinogenesis imperfecta, Shields type 3" OR "DGI-III" OR "Dentinogenesis Imperfecta Type III" OR "brandywine type dentinogenesis imperfecta" OR "dentinogenesis imperfecta Shields type 3" OR "dentinogenesis imperfecta, Shields type III"

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

Parent-category trials query:

"dentinogenesis imperfecta"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (4401) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T08:22:11.204Z