RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:166265

Dentinogenesis imperfecta type 3

high confidenceSubtype of disorder

Also known as: Dentinogenesis imperfecta, Shields type 3

Publications

140

61.5th percentile

Trials

0

Interventional, condition-specific

Researchers

654

Distinct authors in sample

Gene link

DSPP

Strong

Readiness

3/6

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.”

3/6 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

    140 matched papers (75 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

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?

140

140 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.

140 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).

75 in the last 10 years · high confidence · 61.5th percentile (publications denominator)

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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 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 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.

high 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.

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.

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

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 2026-07-26

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"

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" OR "DSPP"

Recall-expansion terms: DSPP

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"dentinogenesis imperfecta"

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

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

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