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ORPHA:166260

Dentinogenesis imperfecta type 2

medium confidenceSubtype of disorder

Also known as: Capdepont teeth · DGI-2 · DI-2 · Dentinogenesis imperfecta, Shields type 2

Publications

4,525

92.9th percentile

Trials

0

Interventional, condition-specific

Researchers

1,221

Distinct authors in sample

Gene link

DSPP

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth.

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 (3)

dentinogenesis imperfecta type 1 · dentinogenesis imperfecta, Shields type 2 · dentinogenesis imperfecta, Shields type II

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

    Definitive — DSPP

  2. LiteraturePresent

    4,525 matched papers (3,415 in last 10 years) Source

  3. Phenotype characterisedPresent

    6 HPO annotations (e.g. Yellow-brown discoloration of the teeth; Dentinogenesis imperfecta; Bilateral sensorineural hearing impairment) 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: Definitive.

Phenotypes (Monarch / HPO)

6

Associated phenotypes · MONDO:0007441

  • Yellow-brown discoloration of the teeth
  • Dentinogenesis imperfecta
  • Bilateral sensorineural hearing impairment
  • High-frequency hearing impairment
  • Tinnitus

Showing 5 of 6 — open Monarch for the full list.

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?

4,525

4,525 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.

4,525 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).

3,415 in the last 10 years · medium confidence · 92.9th percentile (publications denominator)

Phrase hits: 213 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,221

Distinct author names in 200 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
    Simmer JP8 papers · 2023

    Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1210 Eisenhower Place, Ann Arbor, 48103, USA.

    Papers in Europe PMC
  2. 02
    Chen S6 papers · 2021

    Department of Developmental Dentistry, the University of Texas Health Science Center at San Antonio, San Antonio, Texas, 78229-3700, United States. chens0@uthscsa.edu.

    Papers in Europe PMC
  3. 03
    Hu JC6 papers · 2023

    Department of Biologic and Materials Sciences & Prosthodontics, School of Dentistry, University of Michigan, Ann Arbor, MI 48109, USA.

    Papers in Europe PMC
  4. 04
    MacDougall M5 papers · 2017

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

    Papers in Europe PMC
  5. 05
    Bloch-Zupan A4 papers · 2026

    Centre de Référence des Manifestations Odontologiques des Maladies Rares, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, France Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France Institut de Génétique et de Biologie Moléculaire and Cellulaire-Centre Européen de Recherche en Biologie et en Médecine, CNRS UMR7104, INSERM U964 Université de Strasbourg, Illkirch, France.

    Papers in Europe PMC
  6. 06
    Hart TC4 papers · 2008
    Papers in Europe PMC
  7. 07
    Kim JW4 papers · 2026

    Department of Molecular Genetics, School of Dentistry & Dental Research Institute, Seoul National University, Seoul, Korea.

    Papers in Europe PMC
  8. 08
    Li X4 papers · 2025

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

    Papers in Europe PMC
  9. 09
    Liu Y4 papers · 2022

    Jiangsu Collaborative Innovation Center of Chinese Medicinal Resources Industrialization, Nanjing University of Chinese Medicine, Nanjing, China.

    Papers in Europe PMC
  10. 10
    Zhang H4 papers · 2023

    Department of Biologic and Materials Sciences & Prosthodontics, School of Dentistry, University of Michigan, Ann Arbor, MI 48109, 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). 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.

medium 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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)

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 2 — 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 2" OR "Capdepont teeth" OR "DGI-2" OR "Dentinogenesis imperfecta, Shields type 2" OR "dentinogenesis imperfecta type 1" OR "dentinogenesis imperfecta, Shields type II") OR ("DSPP" OR "DSPP syndrome" OR "DSPP-related")

Run this search on Europe PMC

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

"Dentinogenesis imperfecta type 2" OR "Capdepont teeth" OR "DGI-2" OR "Dentinogenesis imperfecta, Shields type 2" OR "dentinogenesis imperfecta type 1" OR "dentinogenesis imperfecta, Shields type II"

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; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: DI-2

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 2026-07-27T08:21:58.903Z