U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Dentinogenesis imperfecta type 3(DGI-III)

MedGen UID:
97995
Concept ID:
C0399378
Congenital Abnormality
Synonyms: Brandywine type dentinogenesis imperfecta; Dentinogenesis imperfecta - Shield's type III; Dentinogenesis imperfecta Shields type 3; Dentinogenesis imperfecta type III; Dentinogenesis Imperfecta, Shields Type III; DGI-III
SNOMED CT: Dentinogenesis imperfecta - Shield's type III (234970006); Brandywine type of dentinogenesis imperfecta (234970006)
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:0007442
OMIM®: 125500
Orphanet: ORPHA166265

Definition

Dentinogenesis imperfecta, Shields type III (DGI-III) is an autosomal dominant disorder of dentin formation. DGI presents clinically with gray to brownish-blue discoloration of the teeth and rapid attrition of the crowns, which are bulbous. There are no skeletal manifestations. Both deciduous and permanent teeth are affected (summary by MacDougall et al., 1999). [from OMIM]

Additional description

From MedlinePlus Genetics
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.  https://medlineplus.gov/genetics/condition/dentinogenesis-imperfecta

Clinical features

From HPO
Dentinogenesis imperfecta
MedGen UID:
8313
Concept ID:
C0011436
Congenital Abnormality
Developmental dysplasia of dentin.
Regional odontodysplasia
MedGen UID:
104891
Concept ID:
C0206554
Congenital Abnormality
The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin.
Dental enamel pits
MedGen UID:
395958
Concept ID:
C1860711
Finding
The presence of small depressions in the dental enamel.
Anterior open-bite malocclusion
MedGen UID:
120566
Concept ID:
C0266060
Finding
Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.
Periapical bone loss
MedGen UID:
343738
Concept ID:
C1852169
Finding
Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDentinogenesis imperfecta type 3
Follow this link to review classifications for Dentinogenesis imperfecta type 3 in Orphanet.

Professional guidelines

PubMed

Wei S, Yao Y, Shu M, Gao L, Zhao J, Li T, Wang Y, Xu C
Endocr Pract 2022 Aug;28(8):760-766. Epub 2022 May 9 doi: 10.1016/j.eprac.2022.05.003. PMID: 35550181
Kanno J, Saito-Hakoda A, Kure S, Fujiwara I
J Bone Miner Metab 2018 May;36(3):344-351. Epub 2017 May 20 doi: 10.1007/s00774-017-0840-9. PMID: 28528406
Tsai PY, Chang CH, Yu CH, Cheng YC, Chang FM
Taiwan J Obstet Gynecol 2012 Sep;51(3):387-92. doi: 10.1016/j.tjog.2012.07.012. PMID: 23040922

Recent clinical studies

Etiology

Harsevoort AGJ, Gooijer K, van Dijk FS, van der Grijn DAFM, Franken AAM, Dommisse AMV, Janus GJM
BMC Musculoskelet Disord 2020 Jan 3;21(1):6. doi: 10.1186/s12891-019-3000-7. PMID: 31900144Free PMC Article
Garrocho-Rangel A, Dávila-Zapata I, Martínez-Rider R, Ruiz-Rodríguez S, Pozos-Guillén A
J Clin Pediatr Dent 2019;43(3):147-154. Epub 2019 Apr 9 doi: 10.17796/1053-4625-43.3.1. PMID: 30964718
Bilge NH, Yeşiltepe S, Törenek Ağırman K, Çağlayan F, Bilge OM
Folia Morphol (Warsz) 2018;77(2):323-328. Epub 2017 Sep 21 doi: 10.5603/FM.a2017.0087. PMID: 28933802
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article
Huber MA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Mar;103(3):314-20. Epub 2007 Jan 12 doi: 10.1016/j.tripleo.2006.10.003. PMID: 17223585

Diagnosis

Garrocho-Rangel A, Dávila-Zapata I, Martínez-Rider R, Ruiz-Rodríguez S, Pozos-Guillén A
J Clin Pediatr Dent 2019;43(3):147-154. Epub 2019 Apr 9 doi: 10.17796/1053-4625-43.3.1. PMID: 30964718
Bilge NH, Yeşiltepe S, Törenek Ağırman K, Çağlayan F, Bilge OM
Folia Morphol (Warsz) 2018;77(2):323-328. Epub 2017 Sep 21 doi: 10.5603/FM.a2017.0087. PMID: 28933802
Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O
Nat Rev Dis Primers 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. PMID: 28820180
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
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article

Therapy

Pantoja LLQ, Lustosa M, Yamaguti PM, Rosa LS, Leite AF, Figueiredo PTS, Castro LC, Acevedo AC
Calcif Tissue Int 2022 Mar;110(3):303-312. Epub 2021 Oct 22 doi: 10.1007/s00223-021-00915-3. PMID: 34677656
Blouin S, Fratzl-Zelman N, Glorieux FH, Roschger P, Klaushofer K, Marini JC, Rauch F
J Bone Miner Res 2017 Sep;32(9):1884-1892. Epub 2017 Jun 26 doi: 10.1002/jbmr.3180. PMID: 28548288Free PMC Article
Huber MA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Mar;103(3):314-20. Epub 2007 Jan 12 doi: 10.1016/j.tripleo.2006.10.003. PMID: 17223585
Shapiro JR, McCarthy EF, Rossiter K, Ernest K, Gelman R, Fedarko N, Santiago HT, Bober M
Calcif Tissue Int 2003 Feb;72(2):103-12. Epub 2002 Dec 4 doi: 10.1007/s00223-001-1055-5. PMID: 12457260
Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, Lalic L, Glorieux DF, Fassier F, Bishop NJ
J Bone Miner Res 2000 Sep;15(9):1650-8. doi: 10.1359/jbmr.2000.15.9.1650. PMID: 10976985

Prognosis

Zhang Y, Jin X, Zhang Z, Hu S, Jiang W, Pan H, Zhang L, Fu B
Medicine (Baltimore) 2024 Jan 26;103(4):e36882. doi: 10.1097/MD.0000000000036882. PMID: 38277536Free PMC Article
Yamaguti PM, de La Dure-Molla M, Monnot S, Cardozo-Amaya YJ, Baujat G, Michot C, Fournier BPJ, Riou MC, Caldas Rosa ECC, Soares de Lima Y, Dos Santos PAC, Alcaraz G, Guerra ENS, Castro LC, de Oliveira SF, Pogue R, Berdal A, de Paula LM, Mazzeu JF, Cormier-Daire V, Acevedo AC
J Dent Res 2023 Jun;102(6):616-625. Epub 2023 Mar 23 doi: 10.1177/00220345231154569. PMID: 36951356
Taqi D, Moussa H, Schwinghamer T, Ducret M, Dagdeviren D, Retrouvey JM, Rauch F, Tamimi F; Members of the BBDC
Bone 2021 Jun;147:115917. Epub 2021 Mar 16 doi: 10.1016/j.bone.2021.115917. PMID: 33741542Free PMC Article
Harsevoort AGJ, Gooijer K, van Dijk FS, van der Grijn DAFM, Franken AAM, Dommisse AMV, Janus GJM
BMC Musculoskelet Disord 2020 Jan 3;21(1):6. doi: 10.1186/s12891-019-3000-7. PMID: 31900144Free PMC Article
Kurisu K, Tabata MJ
Oral Dis 1997 Dec;3(4):223-8. doi: 10.1111/j.1601-0825.1997.tb00045.x. PMID: 9643216

Clinical prediction guides

Yamaguti PM, de La Dure-Molla M, Monnot S, Cardozo-Amaya YJ, Baujat G, Michot C, Fournier BPJ, Riou MC, Caldas Rosa ECC, Soares de Lima Y, Dos Santos PAC, Alcaraz G, Guerra ENS, Castro LC, de Oliveira SF, Pogue R, Berdal A, de Paula LM, Mazzeu JF, Cormier-Daire V, Acevedo AC
J Dent Res 2023 Jun;102(6):616-625. Epub 2023 Mar 23 doi: 10.1177/00220345231154569. PMID: 36951356
Nutchoey O, Intarak N, Theerapanon T, Thaweesapphithak S, Boonprakong L, Srijunbarl A, Porntaveetus T, Shotelersuk V
Oral Surg Oral Med Oral Pathol Oral Radiol 2021 Jun;131(6):694-701. Epub 2021 Jan 9 doi: 10.1016/j.oooo.2021.01.003. PMID: 33737018
Harsevoort AGJ, Gooijer K, van Dijk FS, van der Grijn DAFM, Franken AAM, Dommisse AMV, Janus GJM
BMC Musculoskelet Disord 2020 Jan 3;21(1):6. doi: 10.1186/s12891-019-3000-7. PMID: 31900144Free PMC Article
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
Huber MA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Mar;103(3):314-20. Epub 2007 Jan 12 doi: 10.1016/j.tripleo.2006.10.003. PMID: 17223585

Recent systematic reviews

Prado HV, Soares ECB, Carneiro NCR, Vilar ICO, Abreu LG, Borges-Oliveira AC
J Appl Oral Sci 2023;31:e20230040. Epub 2023 Sep 4 doi: 10.1590/1678-7757-2023-0040. PMID: 37672427Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...