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Dentinogenesis imperfecta - Shield type II(DGI1)

MedGen UID:
424922
Concept ID:
C2973527
Disease or Syndrome
Synonyms: Capdepont teeth; Dentinogenesis imperfecta - Shield's type II; Dentinogenesis Imperfecta 1; Dentinogenesis imperfecta Shields type 2; Dentinogenesis imperfecta without osteogenesis imperfecta; DGI1; Hereditary Opalescent Dentin; Opalescent dentin; Opalescent teeth without osteogenesis imperfecta
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Hereditary opalescent dentine (234969005); Dentinogenesis imperfecta without osteogenesis imperfecta (234969005); Dentinogenesis imperfecta - Shield's type II (234969005)
 
Gene (location): DSPP (4q22.1)
OMIM®: 125490
Orphanet: ORPHA166260

Definition

Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth.Researchers have described three types of dentinogenesis imperfecta with similar dental abnormalities. Type I occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. Dentinogenesis imperfecta type II and type III usually occur in people without other inherited disorders. A few older individuals with type II have had progressive high-frequency hearing loss in addition to dental abnormalities, but it is not known whether this hearing loss is related to dentinogenesis imperfecta.Some researchers believe that dentinogenesis imperfecta type II and type III, along with a condition called dentin dysplasia type II, are actually forms of a single disorder. The signs and symptoms of dentin dysplasia type II are very similar to those of dentinogenesis imperfecta. However, dentin dysplasia type II affects the primary teeth much more than the permanent teeth.
[from GHR]

Clinical features

From HPO
Dentinogenesis imperfecta
MedGen UID:
8313
Concept ID:
C0011436
Congenital Abnormality
A congenital tooth development disorder caused by mutations in the DSPP gene. The teeth are weak, discolored, and translucent.
Dentinogenesis imperfecta
MedGen UID:
8313
Concept ID:
C0011436
Congenital Abnormality
A congenital tooth development disorder caused by mutations in the DSPP gene. The teeth are weak, discolored, and translucent.
Dentinogenesis imperfecta
MedGen UID:
8313
Concept ID:
C0011436
Congenital Abnormality
A congenital tooth development disorder caused by mutations in the DSPP gene. The teeth are weak, discolored, and translucent.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDentinogenesis imperfecta - Shield type II

Recent clinical studies

Diagnosis

de La Dure-Molla M, Philippe Fournier B, Berdal A
Eur J Hum Genet 2015 Apr;23(4):445-51. Epub 2014 Aug 13 doi: 10.1038/ejhg.2014.159. PMID: 25118030Free PMC Article

Clinical prediction guides

de La Dure-Molla M, Philippe Fournier B, Berdal A
Eur J Hum Genet 2015 Apr;23(4):445-51. Epub 2014 Aug 13 doi: 10.1038/ejhg.2014.159. PMID: 25118030Free PMC Article

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