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Dentinogenesis imperfecta type 3

Orpha number ORPHA166265
Synonym(s) Dentinogenesis imperfecta, Shields type 3
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Childhood
ICD-10
  • K00.5
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 234970006

Summary

Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) 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).

Prevalence of DGI-3 is not known. The disease was identified in the Brandywine isolate in southern Maryland, USA.

In DGI-3, both primary and permanent dentition are affected and teeth are often opalescent. Enamel loss and excessive wear have been reported, as well as marked tooth attrition. DGI-3 is associated with multiple periapical radiolucencies in noncarious teeth.

The disorder is caused by mutations in the DSPP gene (4q21.3) coding for dentin sialophosphoprotein, a precursor for dentin sialoprotein and dentin phosphoprotein which are involved in dentinogenesis.

Transmission is autosomal dominant.

Expert reviewer(s)

  • Pr Agnès BLOCH-ZUPAN

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Detailed information

Review article
  • EN (2008)
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