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Dentinogenesis imperfecta
Disease definition
Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development.
ORPHA:49042
Classification level: Disorder- 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
- OMIM: -
- UMLS: C0011436 C2973527
- MeSH: D003811
- GARD: 6258
- MedDRA: 10054013
Summary
Epidemiology
Prevalence of DGI is reported to be 1/6,000 to 1/8,000.
Clinical description
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.
Etiology
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.
Genetic counseling
DGI follows an autosomal dominant pattern of inheritance.
Additional information