MCID: DNT011
MIFTS: 38

Dentinogenesis Imperfecta malady

Rare diseases, Oral diseases, Bone diseases categories

Aliases & Classifications for Dentinogenesis Imperfecta

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Aliases & Descriptions for Dentinogenesis Imperfecta:

Name: Dentinogenesis Imperfecta 32 10 45 23 47 12 65 36
Hereditary Opalescent Dentin 23 47 65
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta 45 65
 
Capdepont Teeth 45
Dgi 23


Classifications:



External Ids:

Disease Ontology10 DOID:4154
MeSH36 D003811
NCIt42 C84667

Summaries for Dentinogenesis Imperfecta

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NIH Rare Diseases:45 Dentinogenesis imperfecta is a disorder of tooth development. this condition causes 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. dentinogenesis imperfecta is caused by mutations in the dspp gene. this condition is inherited in an autosomal dominant fashion.researchers have described three types of dentinogenesis imperfecta with similar dental abnormalities. type i occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. dentinogenesis imperfecta type ii and type iii usually occur in people without other inherited disorders. a few families with type ii have progressive hearing loss in addition to dental abnormalities. type iii was first identified in a population in brandywine, maryland. some researchers believe that dentinogenesis imperfecta type ii and type iii, along with a similar condition called dentin dysplasia type ii, are actually forms of a single disorder. last updated: 4/29/2011

MalaCards based summary: Dentinogenesis Imperfecta, also known as hereditary opalescent dentin, is related to dentinogenesis imperfecta type 3 and osteogenesis imperfecta, type ii. An important gene associated with Dentinogenesis Imperfecta is DSPP (Dentin Sialophosphoprotein), and among its related pathways are Cell adhesion_Endothelial cell contacts by non-junctional mechanisms and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and skeleton.

Genetics Home Reference:23 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.

Related Diseases for Dentinogenesis Imperfecta

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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 73)
idRelated DiseaseScoreTop Affiliating Genes
1dentinogenesis imperfecta type 331.4DMP1, DSPP
2osteogenesis imperfecta, type ii30.4COL1A1, COL1A2, CRTAP
3dentin dysplasia, type ii30.2DMP1, DSPP, IBSP, SPP1
4osteogenesis imperfecta, type iv30.2COL1A1, COL1A2, CRTAP, DSPP, FKBP10
5osteogenesis imperfecta, type iii29.9COL1A1, COL1A2, CRTAP, FKBP10, SERPINH1
6osteoporosis29.9COL1A1, COL1A2, IBSP, SPP1
7osteogenesis imperfecta10.9
8dentinogenesis imperfecta, shields type ii10.9
9dentinogenesis imperfecta, shields type iii10.7
10spondylometaphyseal dysplasia with dentinogenesis imperfecta10.7
11dentinogenesis imperfecta type 210.7
12dentin dysplasia10.7
13deafness, autosomal dominant 39, with dentinogenesis10.6
14cortical defects wormian bones and dentinogenesis imperfecta10.6
15osteogenesis imperfecta, type x10.5
16amelogenesis imperfecta10.5
17osteogenesis imperfecta, type xii10.5
18osteogenesis imperfecta, type i10.5
19dentinogenesis imperfecta - short stature - hearing loss - intellectual disability10.5
20osteogenesis imperfecta, type vii10.4
21osteogenesis imperfecta, type v10.4
22osteogenesis imperfecta, type ix10.4
23osteogenesis imperfecta, type xi10.4
24osteogenesis imperfecta, type viii10.2
25bruck syndrome 210.2
26osteogenesis imperfecta, type xvii10.2
27dentin dysplasia, type i, with microdontia and misshapen teeth10.2
28osteogenesis imperfecta, type xiii10.2
29osteogenesis imperfecta, type xiv10.2
30osteogenesis imperfecta, type xvi10.2
31osteogenesis imperfecta, type xv10.2
32brittle cornea syndrome 110.2
33osteogenesis imperfecta, type vi10.2
34osteopetrosis10.2
35gingivitis10.2
36periodontitis10.2
37dentin dysplasia sclerotic bones10.2
38osteogenesis imperfecta type 1a10.2
39skeletal dysplasias10.2
40skeletal dysplasia10.2
41osteolysis syndrome recessive10.2COL1A1, COL1A2
42classic rett syndrome10.2COL1A1, COL1A2
43congenital trigeminal anesthesia10.2COL1A1, COL1A2
44idiopathic linear interstitial keratitis10.2COL1A1, COL1A2
45pervasive developmental disorder not otherwise specified10.2COL1A1, COL1A2
46col4a1-related disorders10.2COL1A1, COL1A2
47eif4g1-related parkinson disease10.2COL1A1, COL1A2
48larsen-like syndrome10.2COL1A1, COL1A2
49ehlers-danlos syndrome, type viib10.2COL1A1, COL1A2
50anodontia10.2COL1A2, DSPP

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



Diseases related to dentinogenesis imperfecta

Symptoms for Dentinogenesis Imperfecta

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Drugs & Therapeutics for Dentinogenesis Imperfecta

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Interventional clinical trials:

idNameStatusNCT IDPhase
1BBD Longitudinal Study of Osteogenesis ImperfectaRecruitingNCT02432625
2Orodental Manifestations of Rare DiseasesRecruitingNCT02397824

Search NIH Clinical Center for Dentinogenesis Imperfecta


Cochrane evidence based reviews: Dentinogenesis Imperfecta

Genetic Tests for Dentinogenesis Imperfecta

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Anatomical Context for Dentinogenesis Imperfecta

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MalaCards organs/tissues related to Dentinogenesis Imperfecta:

33
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

Animal Models for Dentinogenesis Imperfecta or affiliated genes

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MGI Mouse Phenotypes related to Dentinogenesis Imperfecta:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053717.4COL1A1, COL1A2, DMP1, FKBP10, IBSP, SERPINH1
2MP:00053906.7COL1A1, COL1A2, CRTAP, DMP1, IBSP, SERPINH1

Publications for Dentinogenesis Imperfecta

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Articles related to Dentinogenesis Imperfecta:

(show top 50)    (show all 181)
idTitleAuthorsYear
1
A Case of Dentinogenesis Imperfecta Treated with Submerged Root Technique. (26501025)
2015
2
Multiple teeth fractures in dentinogenesis imperfecta: a case report. (25571690)
2014
3
Diagnostic discussion. Dentinogenesis imperfecta. (23691614)
2013
4
Dentinogenesis imperfecta associated with osteogenesis imperfecta. (23162594)
2012
5
Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. (21323831)
2011
6
Commentary. Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. (21323832)
2011
7
Case report: Rehabilitation of a child with dentinogenesis imperfecta and congenitally missing lateral incisors. (20932402)
2010
8
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family. (20146806)
2010
9
Dentinogenesis imperfecta: a review and case report of a family over four generations. (19075443)
2008
10
An integrated treatment approach: a case report for dentinogenesis imperfecta type II. (18604025)
2007
11
A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family. (17686168)
2007
12
Dentinogenesis imperfecta. (17802895)
2007
13
Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II. (17026502)
2006
14
Esthetic reconstruction of teeth in patient with dentinogenesis imperfecta--a case report. (16617603)
2006
15
A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse. (16025116)
2005
16
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. (15592686)
2005
17
All-ceramic restorations for complete-mouth rehabilitation in dentinogenesis imperfecta: a case report. (12666889)
2002
18
Diagnostic features and pedodontic-orthodontic management in dentinogenesis imperfecta type II: a case report. (12199890)
2002
19
The non-collagenous dentin matrix proteins are involved in dentinogenesis imperfecta type II (DGI-II). (10765957)
2000
20
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. (9541230)
1998
21
Familial tarda type osteogenesis imperfecta with dentinogenesis imperfecta Type I. Case report. (9241928)
1997
22
Elucidation of the sequence and the genomic organization of the human dentin matrix acidic phosphoprotein 1 (DMP1) gene: exclusion of the locus from a causative role in the pathogenesis of dentinogenesis imperfecta type II. (9177774)
1997
23
Dentinogenesis imperfecta: influence of an overdenture on gingival tissues and tooth mobility. (9151619)
1996
24
Carbamide peroxide bleaching of teeth with dentinogenesis imperfecta discoloration: report of a case. (8935109)
1995
25
Presence of dentin phosphoprotein in molars of a patient with dentinogenesis imperfecta type II. (8006116)
1994
26
Hyperfibers and vesicles in dentin matrix in dentinogenesis imperfecta (DI) associated with osteogenesis imperfecta (OI). (7823299)
1994
27
Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity. (1481841)
1992
28
Restoration of a dentition affected by dentinogenesis imperfecta using In-Ceram: a case report. (1300134)
1992
29
Unusual dentinal changes in dentinogenesis imperfecta associated with osteogenesis imperfecta. A case report. (1574308)
1992
30
Dentinogenesis imperfecta: a case report. (1305296)
1992
31
Study of the fine structure of human deciduous dentin with dentinogenesis imperfecta, with special reference to the mantle dentin]. (2133941)
1990
32
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. (3150442)
1988
33
Quantitative histological analysis of the human coronal dentine in dentinogenesis imperfecta types I and II. (3530219)
1986
34
Dentinogenesis imperfecta type III with enamel and cementum defects. (2989751)
1985
35
The ultrastructure of the dental tissues in dentinogenesis imperfecta in man. (3857040)
1985
36
Calvarial doughnut lesions with osteoporosis, multiple fractures, dentinogenesis imperfecta and tumorous changes in the jaws. (Report of a case). (6517811)
1984
37
Relation of mineralization defects in collagen matrices to noncollagenous protein components. Identification of a molecular defect in dentinogenesis imperfecta. (6851336)
1983
38
Dentinogenesis imperfecta. An integrated conservative approach to treatment. (7041928)
1982
39
Removable overdentures in the oral rehabilitation of patients with dentinogenesis imperfecta. (296268)
1978
40
Glycosaminoglycans of EDTA soluble and insoluble dentin in dentinogenesis imperfecta type I. (131920)
1976
41
The management of children and adolescents suffering from amelogenesis imperfecta and dentinogenesis imperfecta. (4280388)
1974
42
What's your diagnosis? Dentinogenesis imperfecta. (4524160)
1974
43
Dentinogenesis imperfecta traceable through five generations of a part American Indian family. (4513064)
1973
44
The amino-acid composition of human hard tissue collagens in osteogenesis imperfecta and dentinogenesis imperfecta. (4710795)
1973
45
Dentinogenesis imperfecta. (4512282)
1973
46
Dentinogenesis imperfecta. (5173239)
1971
47
Classical and atypical dentinogenesis imperfecta in a four year old male. (4893599)
1969
48
Dentinogenesis imperfecta. (13366567)
1956
49
Hereditary dentinogenesis imperfecta (opalescent dentine). (18132147)
1949
50
Dentinogenesis imperfecta. (21012953)
1946

Variations for Dentinogenesis Imperfecta

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Expression for genes affiliated with Dentinogenesis Imperfecta

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Search GEO for disease gene expression data for Dentinogenesis Imperfecta.

Pathways for genes affiliated with Dentinogenesis Imperfecta

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

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8COL1A1, COL1A2
29.8COL1A1, COL1A2
39.8COL1A1, COL1A2
49.8COL1A1, COL1A2
59.8COL1A1, COL1A2
69.8COL1A1, COL1A2
79.7COL1A1, SPP1
89.5SERPINH1, SPP1
99.3COL1A1, IBSP
109.2IBSP, SPP1
118.9DMP1, DSPP, IBSP
12
Show member pathways
8.7COL1A1, COL1A2, CRTAP, SERPINH1
138.5COL1A1, COL1A2, IBSP, SPP1
148.5COL1A1, COL1A2, IBSP, SPP1
15
Show member pathways
8.5COL1A1, COL1A2, IBSP, SPP1
16
Show member pathways
6.7COL1A1, COL1A2, CRTAP, DMP1, DSPP, IBSP

GO Terms for genes affiliated with Dentinogenesis Imperfecta

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

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:000558410.5COL1A1, COL1A2
2membrane-bounded vesicleGO:00319889.7IBSP, SPP1
3proteinaceous extracellular matrixGO:00055789.1COL1A1, CRTAP, DMP1, DSPP
4extracellular matrixGO:00310128.8COL1A1, COL1A2, IBSP
5endoplasmic reticulum lumenGO:00057888.1COL1A1, COL1A2, CRTAP, FKBP10, SERPINH1
6extracellular regionGO:00055767.4COL1A1, COL1A2, DMP1, DSPP, IBSP, SPP1
7extracellular spaceGO:00056157.4COL1A1, COL1A2, CRTAP, IBSP, SERPINH1, SPP1

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:004358910.4COL1A1, COL1A2
2protein heterotrimerizationGO:007020810.2COL1A1, COL1A2
3collagen biosynthetic processGO:003296410.2COL1A1, SERPINH1
4response to steroid hormoneGO:004854510.1COL1A1, SPP1
5positive regulation of cell-substrate adhesionGO:001081110.0DMP1, SPP1
6blood vessel developmentGO:000156810.0COL1A1, COL1A2
7chaperone-mediated protein foldingGO:00610779.8CRTAP, FKBP10
8skeletal system developmentGO:00015019.7COL1A1, COL1A2, DSPP
9cellular response to amino acid stimulusGO:00712309.5COL1A1, COL1A2
10collagen fibril organizationGO:00301999.3COL1A1, COL1A2, SERPINH1
11extracellular matrix disassemblyGO:00226179.3COL1A1, COL1A2, SPP1
12osteoblast differentiationGO:00016499.2COL1A1, IBSP, SPP1
13biomineral tissue developmentGO:00312149.0DMP1, DSPP, IBSP, SPP1
14ossificationGO:00015038.4COL1A1, DMP1, DSPP, IBSP, SPP1
15extracellular matrix organizationGO:00301986.7COL1A1, COL1A2, CRTAP, DMP1, DSPP, IBSP

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:00508409.8DMP1, SPP1
2collagen bindingGO:00055189.8DSPP, SERPINH1
3platelet-derived growth factor bindingGO:00484079.8COL1A1, COL1A2
4extracellular matrix structural constituentGO:00052019.1COL1A1, COL1A2, DSPP

Sources for Dentinogenesis Imperfecta

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet