Details of Disease

General Information of Disease (ID: DISO0UM8)

Disease Name Dentinogenesis imperfecta type 3
Synonyms
brandywine type dentinogenesis imperfecta; dentinogenesis imperfecta Shields type 3; dentinogenesis imperfecta, Shields type III; dentinogenesis imperfecta, Shields type 3; Dentinogenesis Imperfecta Type III; DGI-III; dentinogenesis imperfecta type III
Definition
Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) 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).
Disease Hierarchy
DISYKSRF: Genetic disease
DISJLZU4: Dentinogenesis imperfecta
DISO0UM8: Dentinogenesis imperfecta type 3
Disease Identifiers
MONDO ID
MONDO_0007442
MESH ID
C538216
UMLS CUI
C0399378
OMIM ID
125500
MedGen ID
97995
Orphanet ID
166265
SNOMED CT ID
234970006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
AKR1C2 DEOY5ZM Strong Genetic Variation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DSPP OT1TYNDN Strong Autosomal dominant [2]
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References

1 Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia.Oral Dis. 2017 Apr;23(3):360-366. doi: 10.1111/odi.12621. Epub 2017 Jan 24.
2 DSPP mutation in dentinogenesis imperfecta Shields type II. Nat Genet. 2001 Feb;27(2):151-2. doi: 10.1038/84765.