DI
MCID: DNT011
MIFTS: 47

Dentinogenesis Imperfecta (DI)

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

Aliases & Classifications for Dentinogenesis Imperfecta

MalaCards integrated aliases for Dentinogenesis Imperfecta:

Name: Dentinogenesis Imperfecta 38 12 76 53 25 59 55 6 44 15 73
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta 53 59 73
Hereditary Opalescent Dentin 25 55 73
Dgi 25 59
Opalescent Teeth Without Osteogenesis Imperfecta 59
Non-Syndromic Dentinogenesis Imperfecta 59
Opalescent Teeth Without Oi 59
Opalescent Dentin 73
Non-Syndromic Dgi 59
Capdepont Teeth 53
Dgi Without Oi 59
Di 59

Characteristics:

Orphanet epidemiological data:

59
dentinogenesis imperfecta
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:4154
ICD10 33 K00.5
MeSH 44 D003811
NCIt 50 C84667
SNOMED-CT 68 45742009
Orphanet 59 ORPHA49042
ICD10 via Orphanet 34 K00.5
MESH via Orphanet 45 D003811
UMLS via Orphanet 74 C0011436 C2973527

Summaries for Dentinogenesis Imperfecta

NIH Rare Diseases : 53 Dentinogenesis imperfecta is a condition characterized by teeth that are translucent and discolored (most often blue-grey or yellow-brown in color). Individuals with this disorder tend to have teeth that are weaker than normal, which leads to wear, breakage, and loss of teeth. This damage can include teeth fractures or small holes (pitting) in the enamel. Dentinogenesis imperfecta can affect both primary (baby) teeth and permanent teeth. People with this condition may also have speech problems or teeth that are not placed correctly in the mouth. Dentinogenesis imperfecta is caused by mutations in the DSPP gene and is inherited in an autosomal dominant manner. According to the original classification, there are three types of dentinogenesis imperfecta: Type I: occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle, causing them to break easily. People with this type of dentinogenesis imperfecta have mutations in COL1A1 or COL1A2. Type II: usually occurs in people without another inherited disorder. Some families with type II also have progressive hearing loss in older age. Type II is the most common type of dentinogenesis imperfecta. Type III: usually occurs in people without another inherited disorder. Type III was first identified in a group of families in southern Maryland and has also been seen in individuals of Ashkenazi Jewish descent. Some researchers believe that dentinogenesis imperfecta type II and type III, along with a similar condition called dentin dysplasia type II, are actually just different forms of a single disorder. 

MalaCards based summary : Dentinogenesis Imperfecta, also known as dentinogenesis imperfecta without osteogenesis imperfecta, is related to dentinogenesis imperfecta 1 and dentin dysplasia, type ii. An important gene associated with Dentinogenesis Imperfecta is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and Collagen chain trimerization. The drugs Antibodies and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include Tooth and bone, and related phenotypes are growth/size/body region and cardiovascular system

Genetics Home Reference : 25 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.

Wikipedia : 76 Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. This condition is a type of... more...

Related Diseases for Dentinogenesis Imperfecta

Diseases in the Dentinogenesis Imperfecta family:

Dentinogenesis Imperfecta 1 Dentinogenesis Imperfecta Type 2
Dentinogenesis Imperfecta Type 3

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

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 dentinogenesis imperfecta 1 34.4 DMP1 DSPP
2 dentin dysplasia, type ii 32.7 DMP1 DSPP SPP1
3 osteogenesis imperfecta, type i 32.3 COL1A1 COL1A2
4 osteogenesis imperfecta, type vii 32.0 COL1A1 COL1A2 CRTAP
5 osteogenesis imperfecta, type v 32.0 COL1A1 COL1A2 IFITM5
6 osteogenesis imperfecta, type vi 32.0 COL1A1 IFITM5
7 osteogenesis imperfecta, type xi 31.8 CRTAP FKBP10
8 osteogenesis imperfecta, type iv 31.7 COL1A1 COL1A2 CRTAP DSPP FKBP10
9 osteogenesis imperfecta, type ii 31.4 COL1A1 COL1A2 CRTAP P3H1
10 osteogenesis imperfecta, type viii 31.3 COL1A1 COL1A2 CRTAP P3H1
11 brittle bone disorder 31.3 COL1A1 COL1A2 CRTAP DSPP FKBP10 IFITM5
12 dentin dysplasia 31.1 DSPP SPP1
13 osteogenesis imperfecta, type iii 30.9 BMP1 COL1A1 COL1A2 CRTAP FKBP10 P3H1
14 dentinogenesis imperfecta type 3 12.8
15 dentinogenesis imperfecta type 2 12.7
16 dentinogenesis imperfecta, shields type iii 12.6
17 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 12.6
18 spondylometaphyseal dysplasia with dentinogenesis imperfecta 12.5
19 cortical defects, wormian bones, and dentinogenesis imperfecta 12.3
20 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 12.2
21 osteogenesis imperfecta, type x 11.4
22 osteogenesis imperfecta, type xii 11.4
23 osteogenesis imperfecta, type ix 11.2
24 bruck syndrome 2 11.2
25 osteogenesis imperfecta, type xiii 11.2
26 osteogenesis imperfecta, type xiv 11.2
27 osteogenesis imperfecta, type xv 11.2
28 osteogenesis imperfecta, type xvi 11.2
29 osteogenesis imperfecta, type xvii 11.2
30 osteogenesis imperfecta, type xviii 11.2
31 amelogenesis imperfecta 10.5
32 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
33 ehlers-danlos/osteogenesis imperfecta syndrome 10.2 COL1A1 COL1A2
34 larsen-like syndrome 10.2 COL1A1 COL1A2
35 classic ehlers-danlos syndrome 10.2 COL1A1 COL1A2
36 osteoporosis 10.1
37 osteopetrosis 10.1
38 periodontitis 10.1
39 col1a1/2-related osteogenesis imperfecta 10.1
40 scleroderma, familial progressive 10.1 COL1A1 COL1A2
41 dental fluorosis 10.1 COL1A2 DSPP
42 dental pulp calcification 10.1 DSPP SPP1
43 tympanosclerosis 10.1 COL1A1 SPP1
44 caffey disease 10.1 COL1A1 COL1A2
45 hypercementosis 10.1 DSPP SPP1
46 hypophosphatemic rickets, x-linked recessive 10.1 DMP1 DSPP
47 root resorption 10.1 DSPP SPP1
48 spondyloepiphyseal dysplasia congenita 10.1 COL1A1 COL1A2
49 collagen disease 10.1 COL1A1 COL1A2
50 tooth agenesis 10.1

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



Diseases related to Dentinogenesis Imperfecta

Symptoms & Phenotypes for Dentinogenesis Imperfecta

MGI Mouse Phenotypes related to Dentinogenesis Imperfecta:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.91 BMP1 COL1A1 COL1A2 CRTAP DMP1 FKBP10
2 cardiovascular system MP:0005385 9.85 BMP1 COL1A1 COL1A2 DMP1 FKBP10 SPP1
3 craniofacial MP:0005382 9.8 BMP1 COL1A1 DMP1 FKBP10 IFITM5 SPP1
4 limbs/digits/tail MP:0005371 9.7 BMP1 COL1A1 COL1A2 DMP1 FKBP10 IFITM5
5 muscle MP:0005369 9.35 BMP1 COL1A1 COL1A2 P3H1 SPP1
6 skeleton MP:0005390 9.28 BMP1 COL1A1 COL1A2 CRTAP DMP1 FKBP10

Drugs & Therapeutics for Dentinogenesis Imperfecta

Drugs for Dentinogenesis Imperfecta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 1
2 Immunologic Factors Phase 1
3 Immunoglobulins Phase 1
4 Antibodies, Monoclonal Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta Recruiting NCT03064074 Phase 1 Fresolimumab
2 Dental Malocclusion and Craniofacial Development in OI Recruiting NCT02934451
3 BBD Longitudinal Study of Osteogenesis Imperfecta Recruiting NCT02432625
4 Orodental Manifestations of Rare Diseases Recruiting NCT02397824
5 Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants Not yet recruiting NCT03810859 Not Applicable

Search NIH Clinical Center for Dentinogenesis Imperfecta

Cochrane evidence based reviews: dentinogenesis imperfecta

Genetic Tests for Dentinogenesis Imperfecta

Anatomical Context for Dentinogenesis Imperfecta

MalaCards organs/tissues related to Dentinogenesis Imperfecta:

41
Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Dentinogenesis Imperfecta:
# Tissue Anatomical CompartmentCell Relevance
1 Tooth Dentin Odontoblasts Affected by disease

Publications for Dentinogenesis Imperfecta

Articles related to Dentinogenesis Imperfecta:

(show top 50) (show all 199)
# Title Authors Year
1
Complete overdenture fabrication for a 12-year-old child with dentinogenesis imperfecta type 2. ( 29964251 )
2018
2
Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation. ( 29679229 )
2018
3
Parental Perception of Children Affected by Amelogenesis Imperfecta (AI) and Dentinogenesis Imperfecta (DI): A Qualitative Study. ( 30453633 )
2018
4
Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families. ( 29512331 )
2018
5
Dentinogenesis imperfecta type II in Swedish children and adolescents. ( 30134932 )
2018
6
Isolated dentinogenesis imperfecta with glass-like enamel caused by COL1A2 mutation. ( 30152103 )
2018
7
Treatment of an Adolescent Patient with Dentinogenesis Imperfecta Using Indirect Composite Restorations - A Case Report and Literature Review. ( 30206577 )
2018
8
Prevalence of Dentinogenesis Imperfecta in a French Population. ( 28462180 )
2017
9
Complete Overlay Denture for Pedodontic Patient with Severe Dentinogenesis Imperfecta. ( 29403236 )
2017
10
Dentinogenesis imperfecta type II: A case report with 17 years of follow-up. ( 28680850 )
2017
11
Early Rehabilitation of Incisors with Dentinogenesis Imperfecta Type II - Case Report. ( 28288297 )
2017
12
Minimally invasive orthodontics: elastodontic therapy in a growing patient affected by Dentinogenesis Imperfecta. ( 28736605 )
2017
13
Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia. ( 27973701 )
2016
14
Dental Management of a Child with Dentinogenesis Imperfecta: A Case Report. ( 27928242 )
2016
15
[Identification of a novel mutation of DSPP gene in a Chinese family affected with dentinogenesis imperfecta shields type II]. ( 26829730 )
2016
16
Adhesive Restorations as An Esthetic Solution in Dentinogenesis Imperfecta. ( 26731255 )
2015
17
Microscopic study of dental hard tissues in primary teeth with Dentinogenesis Imperfecta Type II: Correlation of 3D imaging using X-ray microtomography and polarising microscopy. ( 25874815 )
2015
18
A Case of Dentinogenesis Imperfecta Treated with Submerged Root Technique. ( 26501025 )
2015
19
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification. ( 25118030 )
2014
20
Immunocytochemical detection of dentin matrix proteins in primary teeth from patients with dentinogenesis imperfecta associated with osteogenesis imperfecta. ( 25578972 )
2014
21
Dentinogenesis imperfecta: a case report of comprehensive treatment for a teenager. ( 24983179 )
2014
22
Dentinogenesis imperfecta type I: A case report with literature review on nomenclature system. ( 25364163 )
2014
23
Multiple teeth fractures in dentinogenesis imperfecta: a case report. ( 25571690 )
2014
24
Combined treatment with laser sintering and zirconium: a case report of dentinogenesis imperfecta. ( 23533828 )
2013
25
Diagnostic discussion. Dentinogenesis imperfecta. ( 23691614 )
2013
26
A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect. ( 23509818 )
2013
27
Osteogenesis imperfecta/lobstein syndrome associated with dentinogenesis imperfecta. ( 23579912 )
2013
28
Full mouth rehabilitation for a patient with dentinogenesis imperfecta: A clinical report. ( 23289878 )
2013
29
Management of dentinogenesis imperfecta: a review of two case reports. ( 23649579 )
2013
30
Dentinogenesis Imperfecta : A Family which was Affected for Over Three Generations. ( 24086922 )
2013
31
Dentinogenesis imperfecta - hardness and Young's modulus of teeth. ( 24215476 )
2013
32
Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta. ( 24228495 )
2013
33
Dentinogenesis imperfecta type II: ultrastructure of teeth in sagittal sections. ( 24203632 )
2013
34
Clinical manifestations and dental management of dentinogenesis imperfecta associated with osteogenesis imperfecta: Case report. ( 24371383 )
2013
35
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. ( 22392858 )
2012
36
Dentinogenesis imperfecta: full-mouth rehabilitation using implants and sinus grafts--a case report. ( 23094570 )
2012
37
Dentinogenesis imperfecta associated with osteogenesis imperfecta. ( 23162594 )
2012
38
Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice. ( 22508542 )
2012
39
General practitioner's radiology case 89. Dentinogenesis imperfecta. ( 21510175 )
2011
40
Commentary. Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. ( 21323832 )
2011
41
Prosthodontic rehabilitation of dentinogenesis imperfecta. ( 21957394 )
2011
42
Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. ( 21323831 )
2011
43
A Novel Splicing Mutation Alters DSPP Transcription and Leads to Dentinogenesis Imperfecta Type II. ( 22125647 )
2011
44
Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II. ( 20618350 )
2011
45
Dentinogenesis imperfecta in children with osteogenesis imperfecta: a clinical and ultrastructural study. ( 20384825 )
2010
46
Case report: Rehabilitation of a child with dentinogenesis imperfecta and congenitally missing lateral incisors. ( 20932402 )
2010
47
Multidisciplinary approach for a patient with dentinogenesis imperfecta and anterior trauma. ( 20816307 )
2010
48
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family. ( 20146806 )
2010
49
Case report: Clinical, histological and ultrastructural characterization of type II dentinogenesis imperfecta. ( 21108924 )
2010
50
Dentinogenesis imperfecta--clinical presentation and management. ( 20929150 )
2010

Variations for Dentinogenesis Imperfecta

ClinVar genetic disease variations for Dentinogenesis Imperfecta:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL1A1 NM_000088.3(COL1A1): c.2155G> A (p.Gly719Ser) single nucleotide variant Pathogenic rs72651645 GRCh37 Chromosome 17, 48268824: 48268824
2 COL1A1 NM_000088.3(COL1A1): c.2155G> A (p.Gly719Ser) single nucleotide variant Pathogenic rs72651645 GRCh38 Chromosome 17, 50191463: 50191463
3 COL1A2 NM_000089.3(COL1A2): c.2027G> A (p.Gly676Asp) single nucleotide variant Likely pathogenic rs66883877 GRCh37 Chromosome 7, 94048811: 94048811
4 COL1A2 NM_000089.3(COL1A2): c.2027G> A (p.Gly676Asp) single nucleotide variant Likely pathogenic rs66883877 GRCh38 Chromosome 7, 94419499: 94419499

Expression for Dentinogenesis Imperfecta

Search GEO for disease gene expression data for Dentinogenesis Imperfecta.

Pathways for Dentinogenesis Imperfecta

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 BMP1 COL1A1 COL1A2 SPP1
2
Show member pathways
12.28 BMP1 COL1A1 COL1A2 CRTAP P3H1
3
Show member pathways
11.88 BMP1 COL1A1 COL1A2 CRTAP DMP1 DSPP
4
Show member pathways
11.61 COL1A1 COL1A2 SPP1
5 11.34 COL1A1 COL1A2
6 11.31 COL1A1 COL1A2
7 11.27 DMP1 DSPP
8 11.2 COL1A1 COL1A2
9 11.11 COL1A1 SPP1
10 11.03 COL1A1 COL1A2
11 10.92 COL1A1 COL1A2
12 10.72 COL1A1 COL1A2 SPP1
13 10.68 COL1A1 COL1A2
14 10.57 BMP1 COL1A1 COL1A2 SPP1

GO Terms for Dentinogenesis Imperfecta

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.8 BMP1 COL1A1 COL1A2 DMP1 DSPP P3H1
2 endoplasmic reticulum GO:0005783 9.72 COL1A1 COL1A2 CRTAP FKBP10 P3H1
3 extracellular matrix GO:0031012 9.46 COL1A1 COL1A2 DMP1 DSPP
4 endoplasmic reticulum lumen GO:0005788 9.17 COL1A1 COL1A2 CRTAP DMP1 FKBP10 P3H1
5 collagen type I trimer GO:0005584 8.96 COL1A1 COL1A2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 response to mechanical stimulus GO:0009612 9.52 COL1A1 DSPP
2 cellular response to amino acid stimulus GO:0071230 9.51 COL1A1 COL1A2
3 biomineral tissue development GO:0031214 9.5 DMP1 DSPP SPP1
4 blood vessel development GO:0001568 9.49 COL1A1 COL1A2
5 collagen fibril organization GO:0030199 9.48 COL1A1 COL1A2
6 response to steroid hormone GO:0048545 9.46 COL1A1 SPP1
7 skeletal system development GO:0001501 9.46 BMP1 COL1A1 COL1A2 DSPP
8 chaperone-mediated protein folding GO:0061077 9.43 CRTAP P3H1
9 protein heterotrimerization GO:0070208 9.4 COL1A1 COL1A2
10 skin morphogenesis GO:0043589 9.37 COL1A1 COL1A2
11 negative regulation of post-translational protein modification GO:1901874 9.26 CRTAP P3H1
12 ossification GO:0001503 9.26 BMP1 COL1A1 DMP1 DSPP
13 extracellular matrix organization GO:0030198 9.02 COL1A1 COL1A2 DMP1 DSPP SPP1

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.62 BMP1 DMP1 DSPP FKBP10
2 collagen binding GO:0005518 9.37 DSPP P3H1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.26 COL1A1 COL1A2
4 extracellular matrix binding GO:0050840 9.16 DMP1 SPP1
5 extracellular matrix structural constituent GO:0005201 9.13 COL1A1 COL1A2 DSPP
6 platelet-derived growth factor binding GO:0048407 8.62 COL1A1 COL1A2

Sources for Dentinogenesis Imperfecta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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