Details of Disease

General Information of Disease (ID: DISPKTBC)

Disease Name Dentinogenesis imperfecta type 2
Synonyms
opalescent teeth without osteogenesis imperfecta; dentinogenesis imperfecta 1; opalescent dentin; DGI1; dentinogenesis imperfecta without osteogenesis imperfecta; DGI-II; DI-2; dentinogenesis imperfecta type 1; DGI-2; Capdepont teeth; dentinogenesis imperfecta, Shields type II; dentinogenesis imperfecta, Shields type 2
Definition 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.
Disease Hierarchy
DISYKSRF: Genetic disease
DISJLZU4: Dentinogenesis imperfecta
DISPKTBC: Dentinogenesis imperfecta type 2
Disease Identifiers
MONDO ID
MONDO_0007441
MESH ID
D003811
UMLS CUI
C2973527
OMIM ID
125490
MedGen ID
424922
Orphanet ID
166260
SNOMED CT ID
234969005

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 Biomarker [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 Definitive Autosomal dominant [2]
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References

1 Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21.J Dent Res. 2006 Apr;85(4):329-33. doi: 10.1177/154405910608500409.
2 Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population. J Med Genet. 2008 Jul;45(7):457-64. doi: 10.1136/jmg.2007.056911. Epub 2008 May 2.