DGI3
MCID: DNT044
MIFTS: 27

Dentinogenesis Imperfecta, Shields Type Iii (DGI3)

Categories: Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Dentinogenesis Imperfecta, Shields Type Iii

MalaCards integrated aliases for Dentinogenesis Imperfecta, Shields Type Iii:

Name: Dentinogenesis Imperfecta, Shields Type Iii 56 13 39
Brandywine Type Dentinogenesis Imperfecta 56 52 73
Dentinogenesis Imperfecta, Shields Type 3 52 58 73
Dentinogenesis Imperfecta - Shield's Type Iii 29 6
Dentinogenesis Imperfecta Type 3 52 58
Dgi-Iii 56 54
Dentinogenesis Imperfecta Shields Type 3 52
Dentinogenesis Imperfecta Type Iii 52
Dgi3 73

Characteristics:

Orphanet epidemiological data:

58
dentinogenesis imperfecta type 3
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
shields classification -
type 1 - associated with osteogenesis imperfecta
type 2 - hereditary opalescent dentin, not associated with bone defect
type 3 - brandywine isolate opalescent dentin
occurs in a southern maryland tri-racial inbred population known as the "brandywine isolate"


HPO:

31
dentinogenesis imperfecta, shields type iii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare odontological diseases


External Ids:

OMIM 56 125500
MeSH 43 D003811
ICD10 via Orphanet 33 K00.5
UMLS via Orphanet 72 C0399378
Orphanet 58 ORPHA166265
MedGen 41 C0399378

Summaries for Dentinogenesis Imperfecta, Shields Type Iii

NIH Rare Diseases : 52 Dentinogenesis imperfecta type 3 is a rare and severe form of dentinogenesis imperfecta , a condition that affects tooth development. People affected by this condition generally have discolored (most often a blue-gray or yellow-brown color) and translucent teeth. 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. Dentinogenesis imperfecta type 3 is caused by changes (mutations ) in the DSPP gene which are inherited in an autosomal dominant manner. Treatment is usually focused on protecting primary (baby) and then permanent teeth with preformed pediatric crowns and other interventions. The replacement of teeth might be considered in the future with dentures and/or implants.

MalaCards based summary : Dentinogenesis Imperfecta, Shields Type Iii, also known as brandywine type dentinogenesis imperfecta, is related to dentinogenesis imperfecta and dentinogenesis imperfecta 1. An important gene associated with Dentinogenesis Imperfecta, Shields Type Iii is DSPP (Dentin Sialophosphoprotein). Affiliated tissues include bone and salivary gland, and related phenotypes are dentinogenesis imperfecta and anterior open-bite malocclusion

UniProtKB/Swiss-Prot : 73 Dentinogenesis imperfecta, Shields type 3: A form of dentinogenesis imperfecta, an autosomal dominant dentin disorder characterized by amber-brown, opalescent teeth that fracture and shed their enamel during mastication, thereby exposing the dentin to rapid wear. Radiographically, the crown appears bulbous and pulpal obliteration is common. The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin. Both primary and permanent teeth are affected. DGI3 teeth typically manifest multiple periapical radiolucencies. DGI3 is not associated with osteogenesis imperfecta.

More information from OMIM: 125500

Related Diseases for Dentinogenesis Imperfecta, Shields Type Iii

Diseases related to Dentinogenesis Imperfecta, Shields Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dentinogenesis imperfecta 11.8
2 dentinogenesis imperfecta 1 10.4
3 dentin dysplasia 10.4
4 dentin dysplasia, type ii 10.2
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
6 periodontitis 10.2
7 regional odontodysplasia 10.2

Graphical network of the top 20 diseases related to Dentinogenesis Imperfecta, Shields Type Iii:



Diseases related to Dentinogenesis Imperfecta, Shields Type Iii

Symptoms & Phenotypes for Dentinogenesis Imperfecta, Shields Type Iii

Human phenotypes related to Dentinogenesis Imperfecta, Shields Type Iii:

31
# Description HPO Frequency HPO Source Accession
1 dentinogenesis imperfecta 31 HP:0000703
2 anterior open-bite malocclusion 31 HP:0009102
3 periapical bone loss 31 HP:0000700
4 shell teeth 31 HP:0000694

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Teeth:
shell teeth
periapical radiolucencies
primary and secondary teeth affected
amber-opalescent colored teeth (primary and secondary)
marked attrition (primary and secondary)
more
Head And Neck Mouth:
anterior openbite

Clinical features from OMIM:

125500

Drugs & Therapeutics for Dentinogenesis Imperfecta, Shields Type Iii

Search Clinical Trials , NIH Clinical Center for Dentinogenesis Imperfecta, Shields Type Iii

Genetic Tests for Dentinogenesis Imperfecta, Shields Type Iii

Genetic tests related to Dentinogenesis Imperfecta, Shields Type Iii:

# Genetic test Affiliating Genes
1 Dentinogenesis Imperfecta - Shield's Type Iii 29 DSPP

Anatomical Context for Dentinogenesis Imperfecta, Shields Type Iii

MalaCards organs/tissues related to Dentinogenesis Imperfecta, Shields Type Iii:

40
Bone, Salivary Gland

Publications for Dentinogenesis Imperfecta, Shields Type Iii

Articles related to Dentinogenesis Imperfecta, Shields Type Iii:

(show all 22)
# Title Authors PMID Year
1
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. 56 6
15592686 2005
2
Genetic linkage of the dentinogenesis imperfecta type III locus to chromosome 4q. 54 61 56
10371253 1999
3
An autosomal-dominant form of juvenile periodontitis: its localization to chromosome 4 and linkage to dentinogenesis imperfecta and Gc. 61 56
3793857 1986
4
Rough endoplasmic reticulum trafficking errors by different classes of mutant dentin sialophosphoprotein (DSPP) cause dominant negative effects in both dentinogenesis imperfecta and dentin dysplasia by entrapping normal DSPP. 6
22392858 2012
5
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. 6
11175790 2001
6
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. 56
9541230 1998
7
Genetic mapping of the dentinogenesis imperfecta type II locus. 56
7573043 1995
8
Dentinogenesis imperfecta in the Brandywine isolate (DI type III): clinical, radiologic, and scanning electron microscopic studies of the dentition. 56
6579461 1983
9
Treatment of dentinogenesis imperfecta in a child: report of case. 56
6946089 1981
10
Genetic aspects of shell teeth: report of case. 56
6929799 1980
11
Hereditary defects of dentin. 56
162890 1975
12
A proposed classification for heritable human dentine defects with a description of a new entity. 56
4516067 1973
13
Manifestations of genetic diseases in the human pulp. 56
4327157 1971
14
Medical and dental findings in the Brandywine isolate. 56
5978170 1966
15
Dentinogenesis imperfecta in a racial isolate with multiple hereditary defects. 56
13322427 1956
16
Enamel and dentine aplasia; report of a case. 56
13120119 1953
17
Hereditary dentin defects. 54 61
17452557 2007
18
Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III. 54 61
15690376 2005
19
Dentin dysplasia type I-A dental disease with genetic heterogeneity. 61
29575674 2019
20
Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia. 61
27973701 2017
21
Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families. 61
22243242 2011
22
A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II. 61
19131317 2009

Variations for Dentinogenesis Imperfecta, Shields Type Iii

ClinVar genetic disease variations for Dentinogenesis Imperfecta, Shields Type Iii:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DSPP NM_014208.3(DSPP):c.52G>T (p.Val18Phe)SNV Pathogenic 16856 rs121912987 4:88533257-88533257 4:87612105-87612105

UniProtKB/Swiss-Prot genetic disease variations for Dentinogenesis Imperfecta, Shields Type Iii:

73
# Symbol AA change Variation ID SNP ID
1 DSPP p.Val18Phe VAR_012281 rs121912987
2 DSPP p.Pro17Leu VAR_070252

Expression for Dentinogenesis Imperfecta, Shields Type Iii

Search GEO for disease gene expression data for Dentinogenesis Imperfecta, Shields Type Iii.

Pathways for Dentinogenesis Imperfecta, Shields Type Iii

GO Terms for Dentinogenesis Imperfecta, Shields Type Iii

Sources for Dentinogenesis Imperfecta, Shields Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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