DI
MCID: DNT011
MIFTS: 44

Dentinogenesis Imperfecta (DI) malady

Categories: Rare diseases, Oral diseases, Bone diseases

Aliases & Classifications for Dentinogenesis Imperfecta

Aliases & Descriptions for Dentinogenesis Imperfecta:

Name: Dentinogenesis Imperfecta 38 12 50 25 56 52 42 14 69
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta 50 56 69
Hereditary Opalescent Dentin 25 52 69
Dgi 25 56
Opalescent Teeth Without Osteogenesis Imperfecta 56
Non-Syndromic Dentinogenesis Imperfecta 56
Opalescent Teeth Without Oi 56
Opalescent Dentin 69
Non-Syndromic Dgi 56
Capdepont Teeth 50
Dgi Without Oi 56
Di 56

Characteristics:

Orphanet epidemiological data:

56
dentinogenesis imperfecta
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood;

Classifications:

Orphanet: 56  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:4154
ICD10 33 K00.5
MeSH 42 D003811
NCIt 47 C84667
Orphanet 56 ORPHA49042
ICD10 via Orphanet 34 K00.5
MESH via Orphanet 43 D003811
UMLS via Orphanet 70 C0011436
UMLS 69 C0011436

Summaries for Dentinogenesis Imperfecta

NIH Rare Diseases : 50 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.  last updated: 3/17/2017

MalaCards based summary : Dentinogenesis Imperfecta, also known as dentinogenesis imperfecta without osteogenesis imperfecta, is related to osteogenesis imperfecta, type iii and osteogenesis imperfecta, type ii. An important gene associated with Dentinogenesis Imperfecta is DSPP (Dentin Sialophosphoprotein), and among its related pathways/superpathways are Focal Adhesion and Collagen chain trimerization. The drugs Immunoglobulins and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include Tooth and bone, and related phenotypes are growth/size/body region and limbs/digits/tail

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 : 71 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 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 74)
id Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type iii 31.9 COL1A1 COL1A2
2 osteogenesis imperfecta, type ii 30.7 COL1A1 COL1A2 CRTAP DSPP FKBP10
3 dentinogenesis imperfecta, shields type ii 12.5
4 dentinogenesis imperfecta, shields type iii 12.4
5 dentinogenesis imperfecta type 2 12.4
6 dentinogenesis imperfecta type 3 12.3
7 spondylometaphyseal dysplasia with dentinogenesis imperfecta 12.1
8 cortical defects, wormian bones, and dentinogenesis imperfecta 12.0
9 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 11.9
10 deafness, autosomal dominant 39, with dentinogenesis 11.8
11 osteogenesis imperfecta 11.4
12 dentin dysplasia 11.3
13 osteogenesis imperfecta, type iv 11.2
14 osteogenesis imperfecta, type x 11.2
15 osteogenesis imperfecta, type xii 11.2
16 osteogenesis imperfecta, type vii 11.1
17 osteogenesis imperfecta, type i 11.1
18 osteogenesis imperfecta, type xiv 10.9
19 osteogenesis imperfecta, type v 10.9
20 osteogenesis imperfecta, type xvi 10.9
21 osteogenesis imperfecta, type viii 10.9
22 osteogenesis imperfecta, type xv 10.9
23 bruck syndrome 2 10.9
24 osteogenesis imperfecta, type ix 10.9
25 osteogenesis imperfecta, type vi 10.9
26 osteogenesis imperfecta, type xi 10.9
27 osteogenesis imperfecta, type xvii 10.9
28 osteogenesis imperfecta, type xiii 10.9
29 cngb3-related stargardt disease 1 10.2 COL1A1 COL1A2
30 isolated lissencephaly type 1 without known genetic defects 10.2 COL1A1 COL1A2
31 charcot-marie-tooth neuropathy type 2a 10.2 COL1A1 COL1A2
32 prph2-related retinitis pigmentosa 10.2 COL1A1 COL1A2
33 20p13 microdeletion syndrome 10.2 COL1A1 COL1A2
34 phyh-related refsum disease 10.2 COL1A1 COL1A2
35 amelogenesis imperfecta 10.2
36 epileptic encephalopathy, early infantile, 36 10.2 COL1A1 COL1A2
37 hip dysplasia, beukes type 10.2 DMP1 DSPP
38 factor xiiia deficiency 10.2 COL1A1 COL1A2
39 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 10.2 COL1A1 COL1A2
40 long qt syndrome 1 10.2 COL1A1 COL1A2
41 neuroschistosomiasis 10.2 COL1A2 DSPP
42 adenosquamous breast carcinoma 10.2 DSPP SPP1
43 ceroid lipofuscinosis, neuronal, 11 10.1 COL1A1 COL1A2
44 acute frontal sinusitis 10.1 DSPP SPP1
45 agraphia 10.1 COL1A1 COL1A2
46 muscle hypertrophy 10.1 COL1A1 COL1A2 DSPP
47 x-linked hereditary ataxia 10.1 DMP1 IBSP
48 glossitis 10.1 DSPP SPP1
49 neuropathy, distal hereditary motor, type iia 10.1 COL1A1 COL1A2
50 opportunistic bacterial infectious disease 10.1 DMP1 DSPP

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.76 COL1A1 COL1A2 CRTAP DMP1 FKBP10 IBSP
2 limbs/digits/tail MP:0005371 9.43 COL1A1 COL1A2 DMP1 FKBP10 IBSP P3H1
3 skeleton MP:0005390 9.23 COL1A1 COL1A2 CRTAP DMP1 FKBP10 IBSP

Drugs & Therapeutics for Dentinogenesis Imperfecta

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 1
2 Antibodies, Monoclonal Phase 1
3 Antibodies Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta Not yet recruiting NCT03064074 Phase 1
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

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:

39
Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Dentinogenesis Imperfecta:
id 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 185)
id Title Authors Year
1
Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia. ( 27973701 )
2016
2
Dental Management of a Child with Dentinogenesis Imperfecta: A Case Report. ( 27928242 )
2016
3
[Identification of a novel mutation of DSPP gene in a Chinese family affected with dentinogenesis imperfecta shields type II]. ( 26829730 )
2016
4
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
5
A Case of Dentinogenesis Imperfecta Treated with Submerged Root Technique. ( 26501025 )
2015
6
Adhesive Restorations as An Esthetic Solution in Dentinogenesis Imperfecta. ( 26731255 )
2015
7
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification. ( 25118030 )
2014
8
Immunocytochemical detection of dentin matrix proteins in primary teeth from patients with dentinogenesis imperfecta associated with osteogenesis imperfecta. ( 25578972 )
2014
9
Multiple teeth fractures in dentinogenesis imperfecta: a case report. ( 25571690 )
2014
10
Dentinogenesis imperfecta type I: A case report with literature review on nomenclature system. ( 25364163 )
2014
11
Dentinogenesis imperfecta: a case report of comprehensive treatment for a teenager. ( 24983179 )
2014
12
Dentinogenesis imperfecta - hardness and Young's modulus of teeth. ( 24215476 )
2013
13
Dentinogenesis imperfecta type II: ultrastructure of teeth in sagittal sections. ( 24203632 )
2013
14
Combined treatment with laser sintering and zirconium: a case report of dentinogenesis imperfecta. ( 23533828 )
2013
15
Osteogenesis imperfecta/lobstein syndrome associated with dentinogenesis imperfecta. ( 23579912 )
2013
16
A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect. ( 23509818 )
2013
17
Management of dentinogenesis imperfecta: a review of two case reports. ( 23649579 )
2013
18
Clinical manifestations and dental management of dentinogenesis imperfecta associated with osteogenesis imperfecta: Case report. ( 24371383 )
2013
19
Dentinogenesis Imperfecta : A Family which was Affected for Over Three Generations. ( 24086922 )
2013
20
Full mouth rehabilitation for a patient with dentinogenesis imperfecta: A clinical report. ( 23289878 )
2013
21
Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta. ( 24228495 )
2013
22
Diagnostic discussion. Dentinogenesis imperfecta. ( 23691614 )
2013
23
Dentinogenesis imperfecta associated with osteogenesis imperfecta. ( 23162594 )
2012
24
Dentinogenesis imperfecta: full-mouth rehabilitation using implants and sinus grafts--a case report. ( 23094570 )
2012
25
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
26
Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice. ( 22508542 )
2012
27
Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. ( 21323831 )
2011
28
A Novel Splicing Mutation Alters DSPP Transcription and Leads to Dentinogenesis Imperfecta Type II. ( 22125647 )
2011
29
Commentary. Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. ( 21323832 )
2011
30
General practitioner's radiology case 89. Dentinogenesis imperfecta. ( 21510175 )
2011
31
Prosthodontic rehabilitation of dentinogenesis imperfecta. ( 21957394 )
2011
32
Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II. ( 20618350 )
2011
33
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family. ( 20146806 )
2010
34
Dentinogenesis imperfecta in children with osteogenesis imperfecta: a clinical and ultrastructural study. ( 20384825 )
2010
35
Multidisciplinary approach for a patient with dentinogenesis imperfecta and anterior trauma. ( 20816307 )
2010
36
Case report: Clinical, histological and ultrastructural characterization of type II dentinogenesis imperfecta. ( 21108924 )
2010
37
Case report: Rehabilitation of a child with dentinogenesis imperfecta and congenitally missing lateral incisors. ( 20932402 )
2010
38
Dentinogenesis imperfecta--clinical presentation and management. ( 20929150 )
2010
39
De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family. ( 20121932 )
2009
40
A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II. ( 19131317 )
2009
41
[Mutation analysis of a Chinese family with genetic dentinogenesis imperfecta]. ( 19806576 )
2009
42
A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II. ( 19103209 )
2009
43
Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families. ( 18797159 )
2009
44
[Pedigree analysis and prosthodontic treatment of patients with dentinogenesis imperfecta type II]. ( 19760002 )
2009
45
Dentinogenesis imperfecta: a case report. ( 18603736 )
2008
46
Dentinogenesis imperfecta: a review and case report of a family over four generations. ( 19075443 )
2008
47
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. ( 19021896 )
2008
48
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. ( 19029076 )
2008
49
Dentinogenesis imperfecta: the importance of early treatment. ( 18618042 )
2008
50
Dentinogenesis imperfecta: long-term rehabilitation in a child. ( 18647518 )
2008

Variations for Dentinogenesis Imperfecta

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 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.52 COL1A1 COL1A2 IBSP SPP1
2
Show member pathways
12.43 COL1A1 COL1A2 CRTAP P3H1
3 12.16 COL1A1 COL1A2 IBSP SPP1
4
Show member pathways
11.88 COL1A1 COL1A2 CRTAP DMP1 DSPP IBSP
5
Show member pathways
11.63 COL1A1 COL1A2 IBSP SPP1
6 11.35 COL1A1 COL1A2
7 11.32 COL1A1 COL1A2
8 11.23 COL1A1 COL1A2
9 11.19 DMP1 DSPP IBSP
10 11.16 COL1A1 SPP1
11 11.1 COL1A1 COL1A2
12 11 COL1A1 COL1A2
13 10.85 COL1A1 COL1A2 IBSP SPP1
14 10.79 COL1A1 COL1A2
15 10.51 COL1A1 IBSP

GO Terms for Dentinogenesis Imperfecta

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.87 COL1A1 COL1A2 DMP1 DSPP IBSP P3H1
2 extracellular space GO:0005615 9.8 COL1A1 COL1A2 CRTAP IBSP SPP1
3 endoplasmic reticulum GO:0005783 9.77 COL1A1 COL1A2 CRTAP FKBP10 P3H1
4 extracellular matrix GO:0031012 9.61 COL1A1 COL1A2 IBSP
5 proteinaceous extracellular matrix GO:0005578 9.43 COL1A1 COL1A2 CRTAP DMP1 DSPP P3H1
6 macromolecular complex GO:0032991 9.26 CRTAP P3H1
7 endoplasmic reticulum lumen GO:0005788 9.17 COL1A1 COL1A2 CRTAP DMP1 FKBP10 P3H1
8 collagen type I trimer GO:0005584 9.16 COL1A1 COL1A2

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.63 COL1A1 COL1A2 DSPP
2 osteoblast differentiation GO:0001649 9.58 COL1A1 IBSP SPP1
3 collagen catabolic process GO:0030574 9.54 COL1A1 COL1A2
4 cellular response to amino acid stimulus GO:0071230 9.52 COL1A1 COL1A2
5 blood vessel development GO:0001568 9.51 COL1A1 COL1A2
6 ossification GO:0001503 9.5 COL1A1 DMP1 DSPP
7 collagen fibril organization GO:0030199 9.49 COL1A1 COL1A2
8 response to steroid hormone GO:0048545 9.48 COL1A1 SPP1
9 protein heterotrimerization GO:0070208 9.43 COL1A1 COL1A2
10 chaperone-mediated protein folding GO:0061077 9.43 CRTAP FKBP10 P3H1
11 skin morphogenesis GO:0043589 9.37 COL1A1 COL1A2
12 biomineral tissue development GO:0031214 9.26 DMP1 DSPP IBSP SPP1
13 negative regulation of post-translational protein modification GO:1901874 9.16 CRTAP P3H1
14 extracellular matrix organization GO:0030198 9.1 COL1A1 COL1A2 DMP1 DSPP IBSP SPP1

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

id Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 9.26 DSPP P3H1
2 extracellular matrix binding GO:0050840 9.16 DMP1 SPP1
3 platelet-derived growth factor binding GO:0048407 8.96 COL1A1 COL1A2
4 extracellular matrix structural constituent GO:0005201 8.8 COL1A1 COL1A2 DSPP

Sources for Dentinogenesis Imperfecta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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