DI
MCID: DNT011
MIFTS: 54

Dentinogenesis Imperfecta (DI) malady

Bone diseases, Oral diseases categories

Summaries for Dentinogenesis Imperfecta

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 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.

MalaCards: Dentinogenesis Imperfecta, also known as dentinogenesis imperfecta without osteogenesis imperfecta, is related to osteogenesis imperfecta and dentinogenesis imperfecta 1. An important gene associated with Dentinogenesis Imperfecta is DSPP (dentin sialophosphoprotein), and among its related pathways are Anchoring fibril formation and Scavenging by Class A Receptors. The compounds methylmethacrylate and miltefosine have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Wikipedia:63 Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. This condition is a type of... more...

Description from OMIM:46 125500,125490

Aliases & Classifications for Dentinogenesis Imperfecta

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8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 46OMIM, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases, Oral diseases


Characteristics (Orphanet epidemiological data):

48
dentinogenesis imperfecta:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Childhood


Aliases & Descriptions:

dentinogenesis imperfecta 8 21 10 44 48 60
dentinogenesis imperfecta without osteogenesis imperfecta 48 60
hereditary opalescent dentin 21 44
dgi 21 48
opalescent teeth without osteogenesis imperfecta 48
non-syndromic dentinogenesis imperfecta 48
opalescent teeth without oi 48
non-syndromic dgi 48
dgi without oi 48
di 48


External Ids:

Disease Ontology8 DOID:4154
MeSH34 D003811
NCIt39 C84667
MESH via Orphanet35 D003811
ICD10 via Orphanet26 K00.5
SNOMED-CT via Orphanet57 196286005
UMLS via Orphanet61 C0011436

Related Diseases for Dentinogenesis Imperfecta

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17GeneCards, 18GeneDecks
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Diseases in the Dentinogenesis Imperfecta 1 family:

dentinogenesis imperfecta

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

(show top 50)    (show all 246)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta31.3PPIB, FKBP10, DSPP, CD36, SP7, COL1A1
2dentinogenesis imperfecta 131.1DMP1, DSPP
3dentin dysplasia30.8ENAM, SPP1, DSPP, MEP1B, MEPE
4amelogenesis imperfecta30.7ENAM, MMP25, DLX3, DSPP, AMELX, KLK4
5osteogenesis imperfecta type i30.6COL1A2, COL1A1
6gingivitis30.2DSPP
7osteogenesis imperfecta type 430.2COL1A1, COL1A2
8osteoporosis30.2COL1A2, MEPE, CD36, SPP1, SP7, COL1A1
9connective tissue disease30.0DSPP, CD36, COL1A2, COL1A1
10dentinogenesis imperfecta shields type 310.7
11spondylometaphyseal dysplasia with dentinogenesis imperfecta10.6
12cortical defects wormian bones and dentinogenesis imperfecta10.4
13dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit10.3
14diabetes insipidus10.3
15hepatitis10.2
16leukemia10.2
17myocardial infarction10.2
18bone fracture10.2
19osteopetrosis10.2
20periodontitis10.2
21osteogenesis imperfecta type 1a10.2
22osteogenesis imperfecta type x10.2
23osteogenesis imperfecta type xii10.2
24digeorge syndrome10.1
25acute leukemia10.1
26borrone di rocco crovato syndrome10.1
27dermatitis10.1
28hypertension10.1
29pneumonia10.1
30prostatitis10.1
31tuberculosis10.1
32tooth agenesis10.0
33cerebritis10.0
34sudden infant death syndrome10.0
35neuronitis10.0
36lyme disease10.0
37velocardiofacial syndrome10.0
38malaria10.0
39cleft palate10.0DSPP
40root resorption10.0AMELX
41caffey disease10.0COL1A1
42calcinosis10.0SPP1
43primary hyperoxaluria10.0SPP1
44dental fluorosis10.0MMP25, AMELX
45taurodontism10.0DSPP, DLX3
46col1a1/2-related osteogenesis imperfecta10.0COL1A1, COL1A2
47osteogenesis imperfecta, type ii10.0COL1A1, COL1A2
48osteogenesis imperfecta type iii10.0COL1A1, COL1A2
49ehlers-danlos syndrome, classic type10.0COL1A2, COL1A1, DSPP
50hypophosphatemia10.0DMP1, DSPP, MEPE

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



Diseases related to dentinogenesis imperfecta

Clinical Features for Dentinogenesis Imperfecta

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46OMIM
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Clinical features from OMIM:

125500,125490

Drugs & Therapeutics for Dentinogenesis Imperfecta

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Dentinogenesis Imperfecta

Drug clinical trials:

Search ClinicalTrials for Dentinogenesis Imperfecta

Search NIH Clinical Center for Dentinogenesis Imperfecta

Search CenterWatch for Dentinogenesis Imperfecta

Genetic Tests for Dentinogenesis Imperfecta

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Anatomical Context for Dentinogenesis Imperfecta

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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Dentinogenesis Imperfecta:

32
Bone

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Dentinogenesis Imperfecta:
id TissueAnatomical CompartmentCell Relevance
1 ToothDental PulpOdontoblasts Affected by disease

Animal Models for Dentinogenesis Imperfecta or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Dentinogenesis Imperfecta:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.3KLK4, COL1A1, AMELX, DMP1, DSPP, SMPD3
2MP:00053719.2COL1A2, SP7, FKBP10, DMP1, COL1A1, SMPD3
3MP:00053908.7PPIB, AMELX, COL1A1, COL1A2, SMPD3, DMP1
4MP:00107688.7KLK4, COL1A2, COL1A1, PPIB, CD36, DLX3
5MP:00053788.5COL1A1, PPIB, MEP1B, CD36, DLX3, SPP1

Publications for Dentinogenesis Imperfecta

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50PubMed
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Articles related to Dentinogenesis Imperfecta:

(show top 50)    (show all 174)
idTitleAuthorsYear
1
Management of dentinogenesis imperfecta: a review of two case reports. (23649579)
2013
2
Dentinogenesis imperfecta - hardness and Young's modulus of teeth. (24215476)
2013
3
Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta. (24228495)
2013
4
Dentinogenesis imperfecta associated with osteogenesis imperfecta. (23162594)
2012
5
Dentinogenesis imperfecta: full-mouth rehabilitation using implants and sinus grafts--a case report. (23094570)
2012
6
General practitioner's radiology case 89. Dentinogenesis imperfecta. (21510175)
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 in children with osteogenesis imperfecta: a clinical and ultrastructural study. (20384825)
2010
10
A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II. (19103209)
2009
11
Mutation analysis of a Chinese family with genetic dentinogenesis imperfecta]. (19806576)
2009
12
Dentinogenesis imperfecta type II: an affected family saga. (17928732)
2007
13
Pediatric dental management of a patient with osteogenesis imperfecta and dentinogenesis imperfecta. (18683807)
2007
14
Esthetic reconstruction of teeth in patient with dentinogenesis imperfecta--a case report. (16617603)
2006
15
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. (15592686)
2005
16
Osteogenesis imperfecta and dentinogenesis imperfecta: associated disorders. (16163872)
2005
17
Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III. (15690376)
2005
18
Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. (14758537)
2004
19
A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. (15241678)
2004
20
All-ceramic restorations for complete-mouth rehabilitation in dentinogenesis imperfecta: a case report. (12666889)
2002
21
Dentinogenesis imperfecta-associated syndromes. (11746032)
2001
22
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. (11175790)
2001
23
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. (9541230)
1998
24
Dentinogenesis imperfecta: a case report. (9790319)
1998
25
Strategies for rehabilitation in the treatment of dentinogenesis imperfecta in a child: a clinical report. (8648568)
1996
26
Dentin matrix protein-1, a candidate gene for dentinogenesis imperfecta. (9084665)
1996
27
Hyperfibers and vesicles in dentin matrix in dentinogenesis imperfecta (DI) associated with osteogenesis imperfecta (OI). (7823299)
1994
28
Altered collagen expression in human dentin: increased reactivity of type III and presence of type VI in dentinogenesis imperfecta, as revealed by immunoelectron microscopy. (7983359)
1994
29
Restoration of a dentition affected by dentinogenesis imperfecta using In-Ceram: a case report. (1300134)
1992
30
Dentin phosphoprotein in dentin development: implications in dentinogenesis imperfecta. (1508875)
1992
31
Dentin phosphoprotein gene locus is not associated with dentinogenesis imperfecta types II and III. (1729887)
1992
32
Study of the fine structure of human deciduous dentin with dentinogenesis imperfecta, with special reference to the mantle dentin]. (2133941)
1990
33
Dentinogenesis imperfecta in a six-generation family. A clinical, radiographic and histologic comparison of two branches through three generations. (3165569)
1988
34
An autosomal-dominant form of juvenile periodontitis: its localization to chromosome 4 and linkage to dentinogenesis imperfecta and Gc. (3793857)
1986
35
Dentinogenesis imperfecta type III with enamel and cementum defects. (2989751)
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 with dens in dente. (6572881)
1983
39
Using laminate veneers to restore teeth affected with dentinogenesis imperfecta. (6953077)
1982
40
Linkage between dentinogenesis imperfecta and Gc. (7103411)
1982
41
Dentinogenesis imperfecta. (6945620)
1981
42
The teeth in osteogenesis and dentinogenesis imperfecta. (6934786)
1980
43
Dentinogenesis imperfecta--a method of semipermanent restoration. (287697)
1978
44
A case of dentinogenesis imperfecta. A six month evaluation. (266142)
1977
45
The management of children and adolescents suffering from amelogenesis imperfecta and dentinogenesis imperfecta. (4280388)
1974
46
Dentinogenesis imperfecta. (4512282)
1973
47
Prosthetic treatment of hereditary dentinogenesis imperfecta. (5359789)
1969
48
Polarized light and microradiographic study of dental tissues in dentinogenesis imperfecta. (5228077)
1967
49
Treatment of dentitions affected by hereditary amelogenesis and dentinogenesis imperfecta. (4222775)
1966
50
Hereditary dentinogenesis imperfecta. (13655173)
1959

Genetic Variations for Dentinogenesis Imperfecta

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Expression for genes affiliated with Dentinogenesis Imperfecta

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dentinogenesis Imperfecta

Search GEO for disease gene expression data for Dentinogenesis Imperfecta.

Pathways for genes affiliated with Dentinogenesis Imperfecta

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53Reactome, 51QIAGEN, 12EMD Millipore, 49PharmGKB, 29KEGG
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Pathways related to Dentinogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1COL1A1, COL1A2
210.1COL1A1, COL1A2
310.1COL1A1, COL1A2
410.1COL1A1, COL1A2
510.0SMPD3, CD36
6
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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10.0SPP1, COL1A1, COL1A2
710.0CD36, COL1A1, COL1A2
810.0COL1A2, COL1A1, CD36
910.0MEP1B, COL1A1, COL1A2
10
Cell adhesion ECM remodeling
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9.9COL1A2, COL1A1, MMP25
11
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9.9MMP25, COL1A1, COL1A2
12
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9.6COL1A2, COL1A1, MEPE, CD36, SPP1
13
Hide members
9.4SPP1, KLK4, COL1A2, COL1A1, PPIB, MMP25

Compounds for genes affiliated with Dentinogenesis Imperfecta

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44Novoseek, 11DrugBank, 59Tocris Bioscience, 24HMDB, 28IUPHAR, 49PharmGKB
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Compounds related to Dentinogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1methylmethacrylate4410.5DSPP, SPP1
2miltefosine4410.5SPP1, DMP1
3Collagenase1110.4COL1A1, COL1A2
4calcium carbonate4410.4CD36
5rgd peptide4410.4CD36, DMP1
6silver nitrate4410.4DSPP, CD36
7nppa4410.4COL1A1, COL1A2
8grgds4410.3SPP1, CD36
9carbodiimide4410.3COL1A2, COL1A1, SPP1
10alizarin4410.3SP7, SPP1, CD36
11tannins4410.3CD36, DSPP
12tartrate4410.2DSPP, CD36
13procollagen4410.2COL1A2, COL1A1, CD36, SPP1
14calcitriol44 59 11 2413.1MEPE, DSPP, CD36, SPP1
15hydroxyapatite4410.1SPP1, ENAM, CD36, DSPP, DMP1
16ascorbic acid44 2411.1SP7, SPP1, CD36, DSPP
17nppb44 59 2812.0COL1A1, COL1A2
18vitamin d449.9COL1A2, COL1A1, DMP1, DSPP, CD36, SPP1
19polyglycolic acid449.9CD36, DSPP
20estrogen449.7KLK4, COL1A2, COL1A1, DSPP, CD36, SPP1
21dexamethasone44 49 28 1112.7DSPP, CD36, SPP1, SP7, COL1A1
22calcium44 49 11 2412.2COL1A2, COL1A1, DMP1, DSPP, CD36, MMP25

GO Terms for genes affiliated with Dentinogenesis Imperfecta

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16Gene Ontology
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Cellular components related to Dentinogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:00558410.1COL1A1, COL1A2
2proteinaceous extracellular matrixGO:0055789.3ENAM, MMP25, DSPP, MEPE, DMP1, AMELX
3endoplasmic reticulum lumenGO:0057889.2COL1A2, COL1A1, PPIB, FKBP10, DNAJB11

Biological processes related to Dentinogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1tooth mineralizationGO:03450510.3COL1A1, AMELX
2amelogenesisGO:09718610.1KLK4, ENAM
3protein peptidyl-prolyl isomerizationGO:00041310.1FKBP10, PPIB
4osteoblast differentiationGO:00164910.1COL1A1, AMELX, SPP1, SP7
5skin morphogenesisGO:04358910.0COL1A1, COL1A2
6blood vessel developmentGO:00156810.0DLX3, COL1A1, COL1A2
7biomineral tissue developmentGO:0312149.9SPP1, DSPP, MEPE, DMP1, AMELX
8skeletal system developmentGO:0015019.9DSPP, MEPE, COL1A1, COL1A2
9protein heterotrimerizationGO:0702089.8COL1A1, COL1A2
10extracellular matrix organizationGO:0301989.8SPP1, DMP1, PPIB, COL1A1, COL1A2

Molecular functions related to Dentinogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:05084010.2SPP1, DMP1
2structural constituent of tooth enamelGO:03034510.0AMELX, ENAM
3platelet-derived growth factor bindingGO:0484079.8COL1A1, COL1A2
4extracellular matrix structural constituentGO:0052019.8DSPP, MEPE, COL1A1, COL1A2

Products for genes affiliated with Dentinogenesis Imperfecta

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Sources for Dentinogenesis Imperfecta

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet