MCID: DNT011
MIFTS: 46

Dentinogenesis Imperfecta

Categories: Rare diseases, Oral diseases, Bone diseases, Genetic 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
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 Collagen chain trimerization and Degradation of the extracellular matrix. The drugs Antibodies 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 craniofacial

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 59)
# Related Disease Score Top Affiliating Genes
1 dentinogenesis imperfecta 1 34.6 DMP1 DSPP
2 dentin dysplasia, type ii 32.4 DMP1 DSPP SPP1
3 osteogenesis imperfecta, type i 31.9 COL1A1 COL1A2
4 osteogenesis imperfecta, type vii 31.7 COL1A1 COL1A2 CRTAP
5 osteogenesis imperfecta, type v 31.4 COL1A1 COL1A2 IFITM5
6 osteogenesis imperfecta, type xi 31.2 CRTAP FKBP10
7 dentin dysplasia 30.6 DMP1 DSPP SPP1
8 osteogenesis imperfecta, type viii 30.5 COL1A1 COL1A2 CRTAP P3H1
9 osteogenesis imperfecta, type ii 30.5 COL1A1 COL1A2 CRTAP P3H1
10 osteogenesis imperfecta, type iv 29.9 COL1A1 COL1A2 CRTAP DSPP FKBP10
11 osteogenesis imperfecta, type iii 29.3 COL1A1 COL1A2 CRTAP FKBP10 P3H1
12 osteogenesis imperfecta, type vi 28.6 COL1A1 CRTAP FKBP10 IFITM5 P3H1
13 brittle bone disorder 28.1 COL1A1 COL1A2 CRTAP DSPP FKBP10 IFITM5
14 dentinogenesis imperfecta type 2 12.6
15 dentinogenesis imperfecta type 3 12.6
16 dentinogenesis imperfecta, shields type iii 12.5
17 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 12.4
18 spondylometaphyseal dysplasia with dentinogenesis imperfecta 12.3
19 cortical defects, wormian bones, and dentinogenesis imperfecta 12.2
20 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 12.1
21 osteogenesis imperfecta, type x 11.3
22 osteogenesis imperfecta, type xii 11.3
23 osteogenesis imperfecta, type ix 11.0
24 bruck syndrome 2 11.0
25 osteogenesis imperfecta, type xiii 11.0
26 osteogenesis imperfecta, type xiv 11.0
27 osteogenesis imperfecta, type xv 11.0
28 osteogenesis imperfecta, type xvi 11.0
29 osteogenesis imperfecta, type xvii 11.0
30 ehlers-danlos/osteogenesis imperfecta syndrome 10.5 COL1A1 COL1A2
31 high bone mass osteogenesis imperfecta 10.5 COL1A1 COL1A2
32 larsen-like syndrome 10.5 COL1A1 COL1A2
33 type i 10.4
34 dental fluorosis 10.4 COL1A2 DSPP
35 scleroderma, familial progressive 10.4 COL1A1 COL1A2
36 ehlers-danlos syndrome, classic type 10.4 COL1A1 COL1A2
37 dental pulp calcification 10.4 DSPP SPP1
38 caffey disease 10.3 COL1A1 COL1A2
39 tympanosclerosis 10.3 COL1A1 SPP1
40 hypercementosis 10.3 DSPP SPP1
41 hypophosphatemic rickets, x-linked recessive 10.3 DMP1 DSPP
42 amelogenesis imperfecta 10.3
43 spondyloepiphyseal dysplasia congenita 10.3 COL1A1 COL1A2
44 root resorption 10.2 DSPP SPP1
45 collagen disease 10.2 COL1A1 COL1A2
46 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
47 ehlers-danlos syndrome, classic type, 1 10.1 COL1A1 COL1A2 DSPP
48 bone resorption disease 10.1 COL1A1 SPP1
49 cervical incompetence 10.1 CRTAP P3H1
50 osteoporosis 10.0

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 9.7 COL1A1 COL1A2 CRTAP DMP1 FKBP10 P3H1
2 craniofacial MP:0005382 9.65 COL1A1 DMP1 FKBP10 IFITM5 SPP1
3 limbs/digits/tail MP:0005371 9.43 COL1A2 DMP1 FKBP10 IFITM5 P3H1 COL1A1
4 skeleton MP:0005390 9.23 COL1A2 CRTAP DMP1 FKBP10 IFITM5 P3H1

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 Antibodies, Monoclonal Phase 1
3 Immunoglobulins 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

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 192)
# 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
Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families. ( 29512331 )
2018
4
Prevalence of Dentinogenesis Imperfecta in a French Population. ( 28462180 )
2017
5
Complete Overlay Denture for Pedodontic Patient with Severe Dentinogenesis Imperfecta. ( 29403236 )
2017
6
Dentinogenesis imperfecta type II: A case report with 17 years of follow-up. ( 28680850 )
2017
7
Early Rehabilitation of Incisors with Dentinogenesis Imperfecta Type II - Case Report. ( 28288297 )
2017
8
Minimally invasive orthodontics: elastodontic therapy in a growing patient affected by Dentinogenesis Imperfecta. ( 28736605 )
2017
9
Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia. ( 27973701 )
2016
10
Dental Management of a Child with Dentinogenesis Imperfecta: A Case Report. ( 27928242 )
2016
11
[Identification of a novel mutation of DSPP gene in a Chinese family affected with dentinogenesis imperfecta shields type II]. ( 26829730 )
2016
12
Adhesive Restorations as An Esthetic Solution in Dentinogenesis Imperfecta. ( 26731255 )
2015
13
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
14
A Case of Dentinogenesis Imperfecta Treated with Submerged Root Technique. ( 26501025 )
2015
15
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification. ( 25118030 )
2014
16
Immunocytochemical detection of dentin matrix proteins in primary teeth from patients with dentinogenesis imperfecta associated with osteogenesis imperfecta. ( 25578972 )
2014
17
Dentinogenesis imperfecta: a case report of comprehensive treatment for a teenager. ( 24983179 )
2014
18
Dentinogenesis imperfecta type I: A case report with literature review on nomenclature system. ( 25364163 )
2014
19
Multiple teeth fractures in dentinogenesis imperfecta: a case report. ( 25571690 )
2014
20
Combined treatment with laser sintering and zirconium: a case report of dentinogenesis imperfecta. ( 23533828 )
2013
21
Diagnostic discussion. Dentinogenesis imperfecta. ( 23691614 )
2013
22
Osteogenesis imperfecta/lobstein syndrome associated with dentinogenesis imperfecta. ( 23579912 )
2013
23
Full mouth rehabilitation for a patient with dentinogenesis imperfecta: A clinical report. ( 23289878 )
2013
24
Management of dentinogenesis imperfecta: a review of two case reports. ( 23649579 )
2013
25
Dentinogenesis Imperfecta : A Family which was Affected for Over Three Generations. ( 24086922 )
2013
26
Dentinogenesis imperfecta - hardness and Young's modulus of teeth. ( 24215476 )
2013
27
Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta. ( 24228495 )
2013
28
Clinical manifestations and dental management of dentinogenesis imperfecta associated with osteogenesis imperfecta: Case report. ( 24371383 )
2013
29
Dentinogenesis imperfecta type II: ultrastructure of teeth in sagittal sections. ( 24203632 )
2013
30
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
31
Dentinogenesis imperfecta: full-mouth rehabilitation using implants and sinus grafts--a case report. ( 23094570 )
2012
32
Dentinogenesis imperfecta associated with osteogenesis imperfecta. ( 23162594 )
2012
33
Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice. ( 22508542 )
2012
34
General practitioner's radiology case 89. Dentinogenesis imperfecta. ( 21510175 )
2011
35
Commentary. Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. ( 21323832 )
2011
36
Prosthodontic rehabilitation of dentinogenesis imperfecta. ( 21957394 )
2011
37
Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. ( 21323831 )
2011
38
A Novel Splicing Mutation Alters DSPP Transcription and Leads to Dentinogenesis Imperfecta Type II. ( 22125647 )
2011
39
Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II. ( 20618350 )
2011
40
Dentinogenesis imperfecta in children with osteogenesis imperfecta: a clinical and ultrastructural study. ( 20384825 )
2010
41
Case report: Rehabilitation of a child with dentinogenesis imperfecta and congenitally missing lateral incisors. ( 20932402 )
2010
42
Multidisciplinary approach for a patient with dentinogenesis imperfecta and anterior trauma. ( 20816307 )
2010
43
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family. ( 20146806 )
2010
44
Case report: Clinical, histological and ultrastructural characterization of type II dentinogenesis imperfecta. ( 21108924 )
2010
45
Dentinogenesis imperfecta--clinical presentation and management. ( 20929150 )
2010
46
[Mutation analysis of a Chinese family with genetic dentinogenesis imperfecta]. ( 19806576 )
2009
47
[Pedigree analysis and prosthodontic treatment of patients with dentinogenesis imperfecta type II]. ( 19760002 )
2009
48
A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II. ( 19103209 )
2009
49
De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family. ( 20121932 )
2009
50
A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II. ( 19131317 )
2009

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

Expression for Dentinogenesis Imperfecta

Search GEO for disease gene expression data for Dentinogenesis Imperfecta.

Pathways for Dentinogenesis Imperfecta

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 9.7 COL1A1 COL1A2 CRTAP DMP1 DSPP P3H1
2 endoplasmic reticulum GO:0005783 9.65 COL1A1 COL1A2 CRTAP FKBP10 P3H1
3 endoplasmic reticulum lumen GO:0005788 9.17 COL1A1 COL1A2 CRTAP DMP1 FKBP10 P3H1
4 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 skeletal system development GO:0001501 9.61 COL1A1 COL1A2 DSPP
2 collagen catabolic process GO:0030574 9.52 COL1A1 COL1A2
3 blood vessel development GO:0001568 9.51 COL1A1 COL1A2
4 ossification GO:0001503 9.5 COL1A1 DMP1 DSPP
5 cellular response to amino acid stimulus GO:0071230 9.49 COL1A1 COL1A2
6 collagen fibril organization GO:0030199 9.48 COL1A1 COL1A2
7 response to steroid hormone GO:0048545 9.46 COL1A1 SPP1
8 chaperone-mediated protein folding GO:0061077 9.43 CRTAP FKBP10 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 9.16 CRTAP P3H1
12 biomineral tissue development GO:0031214 9.13 DMP1 DSPP SPP1
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 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
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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