ORPHA:166260
Dentinogenesis imperfecta type 2
Also known as: Capdepont teeth · DGI-2 · DI-2 · Dentinogenesis imperfecta, Shields type 2
Publications
213
69.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,221
Distinct authors in sample
Gene link
DSPP
Definitive
Readiness
3/6
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).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007441
- OMIM:125490
- UMLS:C2973527
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — DSPP
- LiteraturePresent
213 matched papers (122 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
213
213 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.
213 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).
122 in the last 10 years · medium confidence · 69.8th percentile (publications denominator)
Phrase hits: 213 · MeSH hits: 0
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.
- 01Simmer 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 - 02Chen 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 - 03Hu 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 - 04MacDougall M5 papers · 2017
Center for Craniofacial Molecular Biology, School of Dentistry, University of Southern California, Los Angeles 90033.
Papers in Europe PMC - 05Bloch-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 - 06Hart TC4 papers · 2008Papers in Europe PMC
- 07Kim JW4 papers · 2026
Department of Molecular Genetics, School of Dentistry & Dental Research Institute, Seoul National University, Seoul, Korea.
Papers in Europe PMC - 08Li 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 - 09Liu Y4 papers · 2022
Jiangsu Collaborative Innovation Center of Chinese Medicinal Resources Industrialization, Nanjing University of Chinese Medicine, Nanjing, China.
Papers in Europe PMC - 10Zhang 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. 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.
medium 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.
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 2026-07-26This 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"
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" 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, recall-expansion; with hits: phrase, recall-expansion
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