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Dentinogenesis imperfecta

Orpha number ORPHA49042
Synonym(s) 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
Prevalence 1-5 / 10 000
Inheritance Autosomal dominant
Age of onset Childhood
ICD-10
  • K00.5
ICD-O -
OMIM -
UMLS
  • C0011436
MeSH
  • D003811
MedDRA
  • 10054013

Summary

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

Prevalence of DGI is reported to be 1/6,000 to 1/8,000.

Signs of the condition are variable and there is significant overlap between different types of dentin dysplasia (DD, see this term) and dentinogenesis imperfecta. Three different types of DGI were originally described in the Shield's classification: DGI type 1, type 2 and type 3. The condition formerly known as DGI-1 is now considered to be a syndromic form of DGI associated with osteogenesis imperfecta types 1b,c, 2, 3, 4b, 9, and 10. In dentinogenesis imperfecta type 2 (DGI-2, see this term), osteogenesis imperfecta is not a feature and the condition is usually characterized by abnormal amber or opalescent dentin, worn teeth, bulbous crowns with cervical constriction, short roots, obliterated pulp chambers and root canals (visible on X-rays). Dentinogenesis imperfecta type 3 (DGI-3, see this term) is characterized by opalescent primary and permanent teeth, marked attrition, and large pulp chambers.

DGI is a hereditary condition caused by missense and nonsense mutations in the DSPP gene (4q21.3) encoding the major proteins involved in dentin formation.

DGI follows an autosomal dominant pattern of inheritance.

Expert reviewer(s)

  • Pr Agnès BLOCH-ZUPAN

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Detailed information

Review article
  • EN (2008)
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