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Dentinogenesis imperfecta type 2(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
SNOMED CT: Hereditary opalescent dentine (234969005); Dentinogenesis imperfecta without osteogenesis imperfecta (234969005); Dentinogenesis imperfecta - Shield's type II (234969005); Capdepont teeth (234969005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: 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.
 
Gene (location): DSPP (4q22.1)
 
Monarch Initiative: MONDO:0007441
OMIM®: 125490
Orphanet: ORPHA166260

Definition

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.

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.

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. [from MedlinePlus Genetics]

Clinical features

From HPO
Dentinogenesis imperfecta
MedGen UID:
8313
Concept ID:
C0011436
Congenital Abnormality
Developmental dysplasia of dentin.
Yellow-brown discoloration of the teeth
MedGen UID:
350813
Concept ID:
C1863008
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDentinogenesis imperfecta type 2

Professional guidelines

PubMed

Yuan M, Zheng X, Xue Y, He Z, Song G, Song Y
Oral Dis 2023 Sep;29(6):2394-2400. Epub 2023 Jan 13 doi: 10.1111/odi.14494. PMID: 36597617
Lindahl K, Åström E, Rubin CJ, Grigelioniene G, Malmgren B, Ljunggren Ö, Kindmark A
Eur J Hum Genet 2015 Aug;23(8):1042-50. Epub 2015 May 6 doi: 10.1038/ejhg.2015.81. PMID: 25944380Free PMC Article
Song Y, Wang C, Peng B, Ye X, Zhao G, Fan M, Fu Q, Bian Z
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006 Sep;102(3):360-74. Epub 2006 Jun 16 doi: 10.1016/j.tripleo.2005.06.020. PMID: 16920545

Recent clinical studies

Diagnosis

Mohan KR, Narayanan M, Ravikumar PT
Gen Dent 2021 Nov-Dec;69(6):74-76. PMID: 34678748
Garces S, Shipman B, Barbosa A, Newman RM, Benjamin P
Gen Dent 2018 Jul-Aug;66(4):62-65. PMID: 29964251

Supplemental Content

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