DGI1
MCID: DNT025
MIFTS: 33

Dentinogenesis Imperfecta 1 (DGI1)

Categories: Bone diseases, Ear diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Dentinogenesis Imperfecta 1

MalaCards integrated aliases for Dentinogenesis Imperfecta 1:

Name: Dentinogenesis Imperfecta 1 57 72
Opalescent Dentin 57 72 6 70
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta 57 72 70
Dgi-Ii 57 72 54
Opalescent Teeth Without Osteogenesis Imperfecta 57 72
Dentinogenesis Imperfecta, Shields Type Ii 57 13
Capdepont Teeth 57 72
Dgi1 57 72
Dentinogenesis Imperfecta - Shield's Type Ii 29
Dentinogenesis Imperfecta, Shields Type 2 72
Dentinogenesis Imperfecta Shields Type Ii 72
Non-Syndromic Dentinogenesis Imperfecta 72
Non-Syndromic Dgi 72
Dgi2 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
primary teeth affected greater than secondary teeth
allelic to dentin dysplasia, type 2
shields classification -
type 1 - associated with osteogenesis imperfecta
type 2 - hereditary opalescent dentin, not associated with bone defect
type 3 - brandywine isolate opalescent dentin


HPO:

31
dentinogenesis imperfecta 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 125490
MeSH 44 D003811
SNOMED-CT via HPO 68 196286005 263681008
UMLS 70 C2973527 C4049050

Summaries for Dentinogenesis Imperfecta 1

UniProtKB/Swiss-Prot : 72 Dentinogenesis imperfecta, Shields type 2: 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. DGI2 is not associated with osteogenesis imperfecta.

MalaCards based summary : Dentinogenesis Imperfecta 1, also known as opalescent dentin, is related to dentinogenesis imperfecta and deafness, autosomal dominant 39, with dentinogenesis imperfecta 1. An important gene associated with Dentinogenesis Imperfecta 1 is DSPP (Dentin Sialophosphoprotein), and among its related pathways/superpathways are Degradation of the extracellular matrix and ECM-receptor interaction. Affiliated tissues include bone, and related phenotype is dentinogenesis imperfecta.

More information from OMIM: 125490

Related Diseases for Dentinogenesis Imperfecta 1

Graphical network of the top 20 diseases related to Dentinogenesis Imperfecta 1:



Diseases related to Dentinogenesis Imperfecta 1

Symptoms & Phenotypes for Dentinogenesis Imperfecta 1

Human phenotypes related to Dentinogenesis Imperfecta 1:

31
# Description HPO Frequency HPO Source Accession
1 dentinogenesis imperfecta 31 HP:0000703

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
dentinogenesis imperfecta
brown-blue or opalescent brown teeth
bulbous shaped crown
narrow roots
root canals are small or obliterated
more

Clinical features from OMIM®:

125490 (Updated 20-May-2021)

Drugs & Therapeutics for Dentinogenesis Imperfecta 1

Search Clinical Trials , NIH Clinical Center for Dentinogenesis Imperfecta 1

Genetic Tests for Dentinogenesis Imperfecta 1

Genetic tests related to Dentinogenesis Imperfecta 1:

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

Anatomical Context for Dentinogenesis Imperfecta 1

MalaCards organs/tissues related to Dentinogenesis Imperfecta 1:

40
Bone

Publications for Dentinogenesis Imperfecta 1

Articles related to Dentinogenesis Imperfecta 1:

(show top 50) (show all 66)
# Title Authors PMID Year
1
DSPP mutation in dentinogenesis imperfecta Shields type II. 54 57 6
11175779 2001
2
Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population. 6 57
18456718 2008
3
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. 6 61
15592686 2005
4
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. 61 6
11175790 2001
5
Genetic mapping of the dentinogenesis imperfecta type II locus. 57 54
7573043 1995
6
Six generations of hereditary opalescent dentin: report of case. 61 57
1053785 1975
7
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
8
A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II. 6
19131317 2009
9
Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. 6
14758537 2004
10
Genomic organization of the human osteopontin gene: exclusion of the locus from a causative role in the pathogenesis of dentinogenesis imperfecta type II. 57
7665163 1995
11
A probable common disturbance in the early stage of odontoblast differentiation in Dentinogenesis imperfecta type I and type II. 57
2462619 1988
12
Linkage between dentinogenesis imperfecta and Gc. 57
7103411 1982
13
Glycosaminoglycans of EDTA soluble and insoluble dentin in dentinogenesis imperfecta type I. 57
131920 1976
14
Dentinogenesis imperfecta. Report of a 5-generation family. 57
1062216 1976
15
Hereditary defects of dentin. 57
162890 1975
16
A proposed classification for heritable human dentine defects with a description of a new entity. 57
4516067 1973
17
Dentinogenesis imperfecta: severe expression in a probable homozygote. 57
4650865 1972
18
Dentinogenesis imperfecta: genetic variations in a six-generation family. 57
5262382 1969
19
Hereditary dentinogenesis imperfecta. 57
13655173 1959
20
Hereditary defects in enamel and dentin. 57
13469154 1957
21
Dentinogenesis imperfecta in a racial isolate with multiple hereditary defects. 57
13322427 1956
22
[Pedigree analysis and prosthodontic treatment of patients with dentinogenesis imperfecta type II]. 61 54
19760002 2009
23
Dentinogenesis imperfecta: a case report. 61 54
18603736 2008
24
Dentinogenesis Imperfecta Type II in Children: A Scoping Review. 61
30964718 2019
25
[Genetic variants analysis and histological observation of teeth in a patient with hereditary opalescent dentin]. 61
30122769 2018
26
Complete overdenture fabrication for a 12-year-old child with dentinogenesis imperfecta type 2. 61
29964251 2018
27
N-terminal Dentin Sialoprotein fragment induces type I collagen production and upregulates dentinogenesis marker expression in osteoblasts. 61
27158678 2016
28
An unusual case of atrophic mandible fracture in a patient with osteogenesis imperfecta and on oral bisphosphonate therapy: Case report. 61
25408599 2014
29
Dentinogenesis Imperfecta : A Family which was Affected for Over Three Generations. 61
24086922 2013
30
Hereditary opalescent dentin. 61
23559659 2013
31
Hereditary opalescent dentin: a report of two cases. 61
20953564 2010
32
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family. 54
20146806 2010
33
[Family tree and restoration method of hereditary opalescent dentin: a case report]. 61
19927739 2009
34
Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families. 54
18797159 2009
35
[A case report of fixed restoration of hereditary opalescent dentin]. 61
19186872 2008
36
Dentinogenesis imperfecta: the importance of early treatment. 61
18618042 2008
37
Dentinogenesis imperfecta type II: an affected family saga. 61
17928732 2007
38
Hereditary dentin defects. 54
17452557 2007
39
An integrated treatment approach: a case report for dentinogenesis imperfecta type II. 54
18604025 2007
40
Phenotypes and genotypes in 2 DGI families with different DSPP mutations. 54
16920545 2006
41
Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III. 54
15690376 2005
42
Hereditary opalescent dentin--a case report. 61
15573663 2004
43
Diagnostic features and pedodontic-orthodontic management in dentinogenesis imperfecta type II: a case report. 61
12199890 2002
44
The non-collagenous dentin matrix proteins are involved in dentinogenesis imperfecta type II (DGI-II). 54
10765957 2000
45
[Hereditary pathology of the enamel and dentin. A review of molecular genetic research]. 61
10693338 2000
46
Genetic linkage of the dentinogenesis imperfecta type III locus to chromosome 4q. 54
10371253 1999
47
Radiological features of hereditary opalescent dentin. 61
9780905 1998
48
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. 54
9541230 1998
49
Dentin dysplasia, type II linkage to chromosome 4q. 54
9493074 1997
50
Presence of dentin phosphoprotein in molars of a patient with dentinogenesis imperfecta type II. 54
8006116 1994

Variations for Dentinogenesis Imperfecta 1

ClinVar genetic disease variations for Dentinogenesis Imperfecta 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DSPP NM_014208.3(DSPP):c.133C>T (p.Gln45Ter) SNV Pathogenic 16853 rs121912985 GRCh37: 4:88533338-88533338
GRCh38: 4:87612186-87612186
2 DSPP NM_014208.3(DSPP):c.135+1G>A SNV Pathogenic 16854 rs1560477489 GRCh37: 4:88533341-88533341
GRCh38: 4:87612189-87612189
3 DSPP NM_014208.3(DSPP):c.52G>T (p.Val18Phe) SNV Pathogenic 16856 rs121912987 GRCh37: 4:88533257-88533257
GRCh38: 4:87612105-87612105
4 DSPP NM_014208.3(DSPP):c.44C>T (p.Ala15Val) SNV Pathogenic 16859 rs121912989 GRCh37: 4:88532104-88532104
GRCh38: 4:87610952-87610952
5 DSPP NM_014208.3(DSPP):c.3438del (p.Asp1146fs) Deletion Pathogenic 16861 rs1560480632 GRCh37: 4:88537252-88537252
GRCh38: 4:87616100-87616100
6 DSPP NM_014208.3(DSPP):c.53T>G (p.Val18Gly) SNV Pathogenic 996079 GRCh37: 4:88533258-88533258
GRCh38: 4:87612106-87612106
7 DSPP NM_014208.3(DSPP):c.3003C>G (p.Ser1001Arg) SNV Uncertain significance 930250 GRCh37: 4:88536817-88536817
GRCh38: 4:87615665-87615665
8 DSPP NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) SNV Benign 16858 rs36094464 GRCh37: 4:88533540-88533540
GRCh38: 4:87612388-87612388

UniProtKB/Swiss-Prot genetic disease variations for Dentinogenesis Imperfecta 1:

72
# Symbol AA change Variation ID SNP ID
1 DSPP p.Arg68Trp VAR_030661 rs36094464
2 DSPP p.Ala15Val VAR_036862 rs121912989
3 DSPP p.Val18Asp VAR_070253

Expression for Dentinogenesis Imperfecta 1

Search GEO for disease gene expression data for Dentinogenesis Imperfecta 1.

Pathways for Dentinogenesis Imperfecta 1

Pathways related to Dentinogenesis Imperfecta 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.81 DSPP DMP1
2
Show member pathways
11.15 DSPP DMP1
3 10.38 DSPP DMP1

GO Terms for Dentinogenesis Imperfecta 1

Cellular components related to Dentinogenesis Imperfecta 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.62 DSPP DMP1

Biological processes related to Dentinogenesis Imperfecta 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.16 DSPP DMP1
2 ossification GO:0001503 8.96 DSPP DMP1
3 biomineral tissue development GO:0031214 8.62 DSPP DMP1

Molecular functions related to Dentinogenesis Imperfecta 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.62 DSPP DMP1

Sources for Dentinogenesis Imperfecta 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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