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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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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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, ENAM
2MP:00053719.2COL1A2, COL1A1, DMP1, FKBP10, SP7, SMPD3
3MP:00053908.7SMPD3, COL1A2, COL1A1, AMELX, PPIB, DMP1
4MP:00107688.7COL1A2, COL1A1, PPIB, MEP1B, CD36, DLX3
5MP:00053788.5KLK4, COL1A2, COL1A1, PPIB, MEP1B, CD36

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
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
2
Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice. (22508542)
2012
3
Commentary. Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. (21323832)
2011
4
Prosthodontic rehabilitation of dentinogenesis imperfecta. (21957394)
2011
5
Multidisciplinary approach for a patient with dentinogenesis imperfecta and anterior trauma. (20816307)
2010
6
Case report: Clinical, histological and ultrastructural characterization of type II dentinogenesis imperfecta. (21108924)
2010
7
A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II. (19131317)
2009
8
Dentinogenesis imperfecta: a review and case report of a family over four generations. (19075443)
2008
9
The role of dentists in diagnosing osteogenesis imperfecta in patients with dentinogenesis imperfecta. (18594076)
2008
10
Dentinogenesis imperfecta: the importance of early treatment. (18618042)
2008
11
An integrated treatment approach: a case report for dentinogenesis imperfecta type II. (18604025)
2007
12
A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family. (17686168)
2007
13
Dentinogenesis imperfecta. (17802895)
2007
14
Msx2 -/- transgenic mice develop compound amelogenesis imperfecta, dentinogenesis imperfecta and periodental osteopetrosis. (17878071)
2007
15
Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance? (16011615)
2005
16
Assessment of dysplastic dentin in osteogenesis imperfecta and dentinogenesis imperfecta. (12790503)
2003
17
Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III. (12721295)
2003
18
Diagnostic features and pedodontic-orthodontic management in dentinogenesis imperfecta type II: a case report. (12199890)
2002
19
Intrafibrillar mineral may be absent in dentinogenesis imperfecta type II (DI-II). (11499512)
2001
20
DSPP mutation in dentinogenesis imperfecta Shields type II. (11175779)
2001
21
Occlusal rehabilitation of a patient with dentinogenesis imperfecta: a clinical report. (10220651)
1999
22
Refinement of the dentinogenesis imperfecta type II locus to an interval of less than 2 centiMorgans at chromosome 4q21 and the creation of a yeast artificial chromosome contig of the critical region. (10371252)
1999
23
Oral rehabilitation in dentinogenesis imperfecta with overdentures: case report. (9643180)
1998
24
Familial tarda type osteogenesis imperfecta with dentinogenesis imperfecta Type I. Case report. (9241928)
1997
25
Dentinogenesis imperfecta: influence of an overdenture on gingival tissues and tooth mobility. (9151619)
1996
26
Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta. (8829655)
1996
27
Genomic organization of the human osteopontin gene: exclusion of the locus from a causative role in the pathogenesis of dentinogenesis imperfecta type II. (7665163)
1995
28
ED-A region-containing isoform of cellular fibronectin is present in dentin matrix in dentinogenesis imperfecta associated with osteogenesis imperfecta. (8046108)
1994
29
Hereditary dentinogenesis imperfecta: a treatment program using an overdenture. (1430497)
1992
30
A microradiographic and histological study of a case of dentinogenesis imperfecta type I]. (1820815)
1991
31
Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta. (2063920)
1991
32
Studies of vertebrate tooth mineralization. Insights from studies of dentinogenesis imperfecta type II. (2640136)
1989
33
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. (3150442)
1988
34
A probable common disturbance in the early stage of odontoblast differentiation in Dentinogenesis imperfecta type I and type II. (2462619)
1988
35
The ultrastructure of the dental tissues in dentinogenesis imperfecta in man. (3857040)
1985
36
Restorative treatment of dentinogenesis imperfecta in a young adult. (3864583)
1985
37
Dentinogenesis imperfecta. A new perspective. (3866531)
1985
38
Prosthetic treatment of dentinogenesis imperfecta. A case report. (7014802)
1981
39
Glycosaminoglycans of EDTA soluble and insoluble dentin in dentinogenesis imperfecta type I. (131920)
1976
40
Uninherited dentinogenesis imperfecta. (1056579)
1975
41
What's your diagnosis? Dentinogenesis imperfecta. (4524160)
1974
42
The management of children and adolescents suffering from amelogenesis imperfecta and dentinogenesis imperfecta. (4530057)
1974
43
Dentinogenesis imperfecta traceable through five generations of a part American Indian family. (4513064)
1973
44
Dentinogenesis imperfecta: severe expression in a probable homozygote. (4650865)
1972
45
Genetic aspects of dentinogenesis imperfecta. (5283495)
1971
46
Classical and atypical dentinogenesis imperfecta in a four year old male. (4893599)
1969
47
Typical roentgenographic appearance in an atypical case of dentinogenesis imperfecta (opalescent dentine). (5259029)
1969
48
Dentinogenesis imperfecta. (13194305)
1954
49
Radicular invagination (Dens in Dente) and dentinogenesis imperfecta in a rat incisor. (15410606)
1950
50
Dentinogenesis imperfecta. (21012953)
1946

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