DI
MCID: DNT011
MIFTS: 44

Dentinogenesis Imperfecta (DI) malady

Categories: Rare diseases, Oral diseases, Bone diseases

Aliases & Classifications for Dentinogenesis Imperfecta

About this section
Sources:
11Disease Ontology, 13DISEASES, 25Genetics Home Reference, 30ICD10, 31ICD10 via Orphanet, 35LifeMap Discovery®, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Dentinogenesis Imperfecta:

Name: Dentinogenesis Imperfecta 35 11 48 25 54 50 39 13 68
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta 48 54 68
Hereditary Opalescent Dentin 25 50 68
Dgi 25 54
Opalescent Teeth Without Osteogenesis Imperfecta 54
Non-Syndromic Dentinogenesis Imperfecta 54
 
Opalescent Teeth Without Oi 54
Opalescent Dentin 68
Non-Syndromic Dgi 54
Capdepont Teeth 48
Dgi Without Oi 54
Di 54

Characteristics:

Orphanet epidemiological data:

54
dentinogenesis imperfecta:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood

Classifications:



External Ids:

Disease Ontology11 DOID:4154
ICD1030 K00.5
MeSH39 D003811
NCIt45 C84667
Orphanet54 ORPHA49042
ICD10 via Orphanet31 K00.5
MESH via Orphanet40 D003811
UMLS via Orphanet69 C0011436

Summaries for Dentinogenesis Imperfecta

About this section
NIH Rare Diseases:48 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 are Transcription_Role of VDR in regulation of genes involved in osteoporosis and Cell adhesion_Endothelial cell contacts by non-junctional mechanisms. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and growth/size/body region.

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

About this section

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)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type iii31.9COL1A1, COL1A2
2osteogenesis imperfecta, type ii30.7COL1A1, COL1A2, CRTAP, DSPP, FKBP10
3dentinogenesis imperfecta, shields type ii12.5
4dentinogenesis imperfecta, shields type iii12.4
5dentinogenesis imperfecta type 212.4
6dentinogenesis imperfecta type 312.3
7spondylometaphyseal dysplasia with dentinogenesis imperfecta12.1
8cortical defects, wormian bones, and dentinogenesis imperfecta12.0
9dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome11.9
10deafness, autosomal dominant 39, with dentinogenesis11.8
11osteogenesis imperfecta11.4
12dentin dysplasia11.3
13osteogenesis imperfecta, type iv11.2
14osteogenesis imperfecta, type x11.2
15osteogenesis imperfecta, type xii11.2
16osteogenesis imperfecta, type vii11.1
17osteogenesis imperfecta, type i11.1
18osteogenesis imperfecta, type viii10.9
19bruck syndrome 210.9
20osteogenesis imperfecta, type xvii10.9
21osteogenesis imperfecta, type xiii10.9
22osteogenesis imperfecta, type xiv10.9
23osteogenesis imperfecta, type v10.9
24osteogenesis imperfecta, type xvi10.9
25osteogenesis imperfecta, type xv10.9
26osteogenesis imperfecta, type ix10.9
27osteogenesis imperfecta, type vi10.9
28osteogenesis imperfecta, type xi10.9
29cngb3-related stargardt disease 110.2COL1A1, COL1A2
30isolated lissencephaly type 1 without known genetic defects10.2COL1A1, COL1A2
31charcot-marie-tooth neuropathy type 2a10.2COL1A1, COL1A2
32prph2-related retinitis pigmentosa10.2COL1A1, COL1A2
3320p13 microdeletion syndrome10.2COL1A1, COL1A2
34phyh-related refsum disease10.2COL1A1, COL1A2
35amelogenesis imperfecta10.2
36epileptic encephalopathy, early infantile, 3610.2COL1A1, COL1A2
37hip dysplasia, beukes type10.2DMP1, DSPP
38factor xiiia deficiency10.2COL1A1, COL1A2
39cerebellar ataxia, mental retardation, and dysequilibrium syndrome 210.2COL1A1, COL1A2
40long qt syndrome 110.2COL1A1, COL1A2
41neuroschistosomiasis10.2COL1A2, DSPP
42adenosquamous breast carcinoma10.2DSPP, SPP1
43ceroid lipofuscinosis, neuronal, 1110.1COL1A1, COL1A2
44acute frontal sinusitis10.1DSPP, SPP1
45agraphia10.1COL1A1, COL1A2
46muscle hypertrophy10.1COL1A1, COL1A2, DSPP
47x-linked hereditary ataxia10.1DMP1, IBSP
48glossitis10.1DSPP, SPP1
49neuropathy, distal hereditary motor, type iia10.1COL1A1, COL1A2
50opportunistic bacterial infectious disease10.1DMP1, DSPP

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



Diseases related to dentinogenesis imperfecta

Symptoms & Phenotypes for Dentinogenesis Imperfecta

About this section

MGI Mouse Phenotypes related to Dentinogenesis Imperfecta according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.2COL1A1, COL1A2, DMP1, FKBP10, IBSP, P3H1
2MP:00053787.2COL1A1, COL1A2, CRTAP, DMP1, FKBP10, IBSP
3MP:00053906.4COL1A1, COL1A2, CRTAP, DMP1, FKBP10, IBSP

Drugs & Therapeutics for Dentinogenesis Imperfecta

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1ImmunoglobulinsPhase 16394
2Antibodies, MonoclonalPhase 14039
3AntibodiesPhase 16394

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety of Fresolimumab in the Treatment of Osteogenesis ImperfectaNot yet recruitingNCT03064074Phase 1
2Dental Malocclusion and Craniofacial Development in OIRecruitingNCT02934451
3BBD Longitudinal Study of Osteogenesis ImperfectaRecruitingNCT02432625
4Orodental Manifestations of Rare DiseasesRecruitingNCT02397824

Search NIH Clinical Center for Dentinogenesis Imperfecta


Cochrane evidence based reviews: dentinogenesis imperfecta

Genetic Tests for Dentinogenesis Imperfecta

About this section

Anatomical Context for Dentinogenesis Imperfecta

About this section

MalaCards organs/tissues related to Dentinogenesis Imperfecta:

36
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 TissueAnatomical CompartmentCell Relevance
1 ToothDentinOdontoblasts Affected by disease

Publications for Dentinogenesis Imperfecta

About this section

Articles related to Dentinogenesis Imperfecta:

(show top 50)    (show all 185)
idTitleAuthorsYear
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

About this section

Expression for genes affiliated with Dentinogenesis Imperfecta

About this section
Search GEO for disease gene expression data for Dentinogenesis Imperfecta.

Pathways for genes affiliated with Dentinogenesis Imperfecta

About this section

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

(show all 15)
idSuper pathwaysScoreTop Affiliating Genes
19.7COL1A1, SPP1
29.7COL1A1, COL1A2
39.7COL1A1, COL1A2
49.7COL1A1, COL1A2
59.7COL1A1, COL1A2
69.7COL1A1, COL1A2
79.7COL1A1, COL1A2
89.6COL1A1, IBSP
99.3DMP1, DSPP, IBSP
10
Show member pathways
8.7COL1A1, COL1A2, IBSP, SPP1
118.7COL1A1, COL1A2, IBSP, SPP1
128.7COL1A1, COL1A2, IBSP, SPP1
13
Show member pathways
8.7COL1A1, COL1A2, IBSP, SPP1
14
Show member pathways
8.5COL1A1, COL1A2, CRTAP, P3H1
15
Show member pathways
6.9COL1A1, COL1A2, CRTAP, DMP1, DSPP, IBSP

GO Terms for genes affiliated with Dentinogenesis Imperfecta

About this section

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

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:000558410.5COL1A1, COL1A2
2macromolecular complexGO:003299110.0CRTAP, P3H1
3extracellular matrixGO:00310129.9COL1A1, COL1A2, IBSP
4extracellular spaceGO:00056158.7COL1A1, COL1A2, CRTAP, IBSP, SPP1
5endoplasmic reticulumGO:00057838.5COL1A1, COL1A2, CRTAP, FKBP10, P3H1
6extracellular regionGO:00055768.3COL1A1, COL1A2, DMP1, DSPP, IBSP, P3H1
7proteinaceous extracellular matrixGO:00055787.8COL1A1, COL1A2, CRTAP, DMP1, DSPP, P3H1
8endoplasmic reticulum lumenGO:00057887.7COL1A1, COL1A2, CRTAP, DMP1, FKBP10, P3H1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1blood vessel developmentGO:000156810.4COL1A1, COL1A2
2cellular response to amino acid stimulusGO:007123010.4COL1A1, COL1A2
3collagen catabolic processGO:003057410.3COL1A1, COL1A2
4collagen fibril organizationGO:003019910.3COL1A1, COL1A2
5response to steroid hormoneGO:004854510.3COL1A1, SPP1
6protein heterotrimerizationGO:007020810.3COL1A1, COL1A2
7ossificationGO:000150310.1COL1A1, DMP1, DSPP
8negative regulation of post-translational protein modificationGO:190187410.0CRTAP, P3H1
9osteoblast differentiationGO:00016499.8COL1A1, IBSP, SPP1
10skin morphogenesisGO:00435899.7COL1A1, COL1A2
11skeletal system developmentGO:00015019.6COL1A1, COL1A2, DSPP
12biomineral tissue developmentGO:00312149.5DMP1, DSPP, IBSP, SPP1
13chaperone-mediated protein foldingGO:00610779.2CRTAP, FKBP10, P3H1
14extracellular matrix organizationGO:00301988.7COL1A1, COL1A2, DMP1, DSPP, IBSP, SPP1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:005084010.2DMP1, SPP1
2collagen bindingGO:000551810.2DSPP, P3H1
3platelet-derived growth factor bindingGO:00484079.7COL1A1, COL1A2
4extracellular matrix structural constituentGO:00052019.6COL1A1, COL1A2, DSPP

Sources for Dentinogenesis Imperfecta

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet