MCID: DNT011
MIFTS: 44

Dentinogenesis Imperfecta malady

Bone diseases category

Summaries for Dentinogenesis Imperfecta

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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 based summary: Dentinogenesis Imperfecta, also known as hereditary opalescent dentin, is related to dentinogenesis imperfecta, shields type ii and amelogenesis imperfecta. An important gene associated with Dentinogenesis Imperfecta is DSPP (dentin sialophosphoprotein), and among its related pathways are Osteoblast Signaling and VEGFR3 signaling in lymphatic endothelium. The compounds rgd peptide and fibroin have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are hearing/vestibular/ear and integument.

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

Aliases & Classifications for Dentinogenesis Imperfecta

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Dentinogenesis Imperfecta, Aliases & Descriptions:

Name: Dentinogenesis Imperfecta 30 9 21 11 43 60
Hereditary Opalescent Dentin 21 43 60
 
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta 60
Dgi 21


Classifications:

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


External Ids:

Disease Ontology9 DOID:4154
NCIt38 C84667
MeSH33 D003811

Related Diseases for Dentinogenesis Imperfecta

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

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1dentinogenesis imperfecta, shields type ii32.1DSPP, DMP1
2amelogenesis imperfecta31.1DSPP, MMP20, ENAM
3osteogenesis imperfecta, type iv31.1COL1A2, COL1A1
4osteogenesis imperfecta, type iii30.8COL1A1, COL1A2
5osteogenesis imperfecta, type i30.8COL1A2, COL1A1
6osteogenesis imperfecta30.8IBSP, CD36, CRTAP, COL1A2, COL1A1, FKBP10
7tooth agenesis30.6DSPP, MSX1
8osteoporosis30.5CD36, COL1A1, IBSP, VDR
9dentin dysplasia30.4MEPE, MSX1, MMP20, DSPP, IBSP, SPP1
10dentinogenesis imperfecta, shields type iii10.8
11spondylometaphyseal dysplasia with dentinogenesis imperfecta10.7
12cortical defects wormian bones and dentinogenesis imperfecta10.6
13osteogenesis imperfecta, type ii10.5COL1A1
14caffey disease10.5COL1A1
15deafness, autosomal dominant 36, with dentinogenesis10.4
16dentinogenesis imperfecta - short stature - hearing loss - intellectual disability10.4
17dental fluorosis10.4MMP20
18fibrous dysplasia10.4SPP1, CD36
19collagen disease10.4COL1A1, CD36
20osteogenesis imperfecta, type x10.4
21gingival overgrowth10.3CD36, COL1A1, DSPP
22col1a1/2-related osteogenesis imperfecta10.3COL1A2, COL1A1
23idiopathic juvenile osteoporosis10.3CD36, COL1A2
24marfan syndrome10.3CD36, COL1A2
25ehlers-danlos syndrome, type i10.3DSPP, COL1A1, COL1A2
26bone cancer10.3SPP1, IBSP, CD36
27otosclerosis10.3COL1A1, COL1A2, CD36
28systemic scleroderma10.3COL1A2, COL1A1
29rickets10.3CD36, VDR
30intervertebral disc disease10.2COL1A1, VDR
31tendinitis10.2TNC
32glomerulosclerosis10.2CD36, COL1A2, SPP1
33periodontal disease10.2SPP1, IBSP, DSPP, CD36
34renal osteodystrophy10.2CD36, VDR
35dentin dysplasia, type ii10.2
36osteogenesis imperfecta, type xii10.2
37osteogenesis imperfecta, type ix10.2
38brittle cornea syndrome 110.2
39osteogenesis imperfecta, type xi10.2
40osteopetrosis10.2
41gingivitis10.2
42periodontitis10.2
43chondrodysplasia10.2
44osteogenesis imperfecta type 1a10.2
45skeletal dysplasias10.2
46mental retardation10.2
47hypophosphatemic rickets, x-linked dominant10.2MEPE, DMP1, VDR
48hyperphosphatemia10.2SPP1, VDR
49ameloblastoma10.2MMP20, DSPP, IBSP
50ehlers-danlos syndrome10.2DSPP, COL1A1, COL1A2, CD36

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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Drug clinical trials:

Search ClinicalTrials for Dentinogenesis Imperfecta

Search NIH Clinical Center for 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:

31
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 ToothDental PulpOdontoblasts Affected by disease

Animal Models for Dentinogenesis Imperfecta or affiliated genes

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MGI Mouse Phenotypes related to Dentinogenesis Imperfecta:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8COL1A1, MSX1, TNC, VDR
2MP:00107718.3VDR, SPP1, LEPRE1, MSX1, COL1A1, COL1A2
3MP:00053698.2VDR, SPP1, LEPRE1, MSX1, COL1A1, COL1A2
4MP:00053827.8VDR, DMP1, SMPD3, DSPP, MMP20, MSX1
5MP:00053867.6VDR, SPP1, TNC, MSX1, COL1A1, COL1A2
6MP:00053717.5VDR, DMP1, IBSP, SMPD3, LEPRE1, FKBP10
7MP:00053767.2VDR, SPP1, SMPD3, TNC, MSX1, MEP1B
8MP:00053786.7VDR, SPP1, IBSP, SMPD3, LEPRE1, MSX1
9MP:00053906.1CD36, VDR, SPP1, DMP1, IBSP, SMPD3

Publications for Dentinogenesis Imperfecta

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Articles related to Dentinogenesis Imperfecta:

(show top 50)    (show all 178)
idTitleAuthorsYear
1
Multiple teeth fractures in dentinogenesis imperfecta: a case report. (25571690)
2014
2
Diagnostic discussion. Dentinogenesis imperfecta. (23691614)
2013
3
Dentinogenesis imperfecta associated with osteogenesis imperfecta. (23162594)
2012
4
Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. (21323831)
2011
5
Commentary. Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. (21323832)
2011
6
Case report: Rehabilitation of a child with dentinogenesis imperfecta and congenitally missing lateral incisors. (20932402)
2010
7
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family. (20146806)
2010
8
Dentinogenesis imperfecta: a review and case report of a family over four generations. (19075443)
2008
9
An integrated treatment approach: a case report for dentinogenesis imperfecta type II. (18604025)
2007
10
A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family. (17686168)
2007
11
Dentinogenesis imperfecta. (17802895)
2007
12
Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II. (17026502)
2006
13
Esthetic reconstruction of teeth in patient with dentinogenesis imperfecta--a case report. (16617603)
2006
14
A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse. (16025116)
2005
15
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. (15592686)
2005
16
All-ceramic restorations for complete-mouth rehabilitation in dentinogenesis imperfecta: a case report. (12666889)
2002
17
Diagnostic features and pedodontic-orthodontic management in dentinogenesis imperfecta type II: a case report. (12199890)
2002
18
The non-collagenous dentin matrix proteins are involved in dentinogenesis imperfecta type II (DGI-II). (10765957)
2000
19
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. (9541230)
1998
20
Dentinogenesis imperfecta: endodontic implications. Case report. (9868734)
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 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0COL1A1, IBSP
2
Show member pathways
9.9COL1A2, COL1A1
39.9COL1A2, COL1A1
49.7SMPD3, CD36
59.6CD36, COL1A2, COL1A1
6
Show member pathways
9.6COL1A1, COL1A2, CD36
79.6MEP1B, COL1A1, COL1A2
89.5TNC, IBSP, SPP1
99.4COL1A1, SPP1, VDR
109.3DSPP, TNC, IBSP, DMP1
11
Show member pathways
Metalloproteases in connective tissue degradation
8.9TNC, MMP20, COL1A1, COL1A2
128.8COL1A2, COL1A1, TNC, IBSP, SPP1
138.7VDR, SPP1, IBSP, COL1A1, COL1A2
14
Show member pathways
8.7LEPRE1, MMP20, COL1A1, COL1A2, CRTAP
15
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
8.6SPP1, IBSP, TNC, COL1A1, COL1A2, CD36
16
Show member pathways
8.3SPP1, TNC, MEPE, COL1A1, COL1A2
17
Show member pathways
8.3SPP1, TNC, MEPE, COL1A1, COL1A2
18
Show member pathways
7.6SPP1, TNC, MMP20, MEPE, COL1A1, COL1A2
19
Show member pathways
7.3CRTAP, SPP1, DMP1, IBSP, LEPRE1, TNC

Compounds for genes affiliated with Dentinogenesis Imperfecta

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

(show top 50)    (show all 70)
idCompoundScoreTop Affiliating Genes
1rgd peptide4310.3CD36, DMP1
2fibroin4310.3IBSP, SPP1
3silver nitrate4310.2DSPP, CD36
4methylmethacrylate4310.2SPP1, IBSP, DSPP
5miltefosine4310.2IBSP, DMP1, SPP1
6nppa4310.2COL1A2, COL1A1
7grgds4310.1SPP1, IBSP, CD36
8alizarin4310.1SPP1, IBSP, CD36
9chitosan4310.1CD36, IBSP, SPP1
10ibandronate43 1211.1IBSP, CD36
11calcium carbonate4310.1DSPP, CD36
12carbodiimide4310.1SPP1, COL1A1, COL1A2
13hydroxyproline43 24 1212.0IBSP, COL1A1, CD36
14calcium oxalate4310.0SPP1, IBSP
15fluoride4310.0MMP20, DSPP, SPP1
16apai439.9VDR, COL1A1
1722-oxacalcitriol439.9VDR, CD36
18grgdsp439.9SPP1, IBSP
19alendronate43 49 1211.8CD36, DSPP, VDR
2025-hydroxyvitamin d439.8VDR, SPP1, CD36
21tannins439.7DSPP, CD36
22silver439.7DSPP, TNC, IBSP
23deoxypyridinoline439.7CD36, IBSP, VDR
24chondroitin sulfate43 2410.7CD36, TNC, SPP1
25titanium439.7SPP1, IBSP, TNC, CD36
26xbai439.6COL1A2, COL1A1, VDR
27glycosaminoglycan439.6IBSP, TNC, COL1A1, CD36
28hydroxyapatite439.5SPP1, DMP1, IBSP, DSPP, ENAM, CD36
291,25 dihydroxy vitamin d3439.5VDR, SPP1, IBSP, COL1A1
30matrigel439.4SPP1, DMP1, IBSP, TNC, CD36
31paraffin439.4SPP1, IBSP, TNC, DSPP, CD36
32ly294002439.3CD36, COL1A2, TNC, SPP1
33pge2439.3VDR, SPP1, IBSP, COL1A1, CD36
34aspartate439.2VDR, SPP1, DSPP, COL1A1, COL1A2
35vegf439.1SPP1, IBSP, TNC, COL1A1, CD36
36oligonucleotide439.1SPP1, IBSP, TNC, COL1A1, COL1A2
37chloramphenicol43 2 49 1212.1COL1A2, COL1A1, TNC, VDR
38procollagen439.1SPP1, IBSP, TNC, COL1A1, COL1A2, CD36
39creatinine438.9VDR, SPP1, IBSP, TNC, CD36
40cycloheximide438.9VDR, SPP1, IBSP, TNC, CD36
41calcitriol43 59 24 1211.8VDR, SPP1, DSPP, MEPE, CD36
42retinoic acid43 249.6VDR, SPP1, TNC, MSX1, COL1A1, CD36
43glutamate438.6DSPP, TNC, IBSP, SPP1, VDR
44dexamethasone43 49 28 1211.6VDR, SPP1, IBSP, TNC, DSPP, COL1A1
45vitamin d438.5CD36, VDR, SPP1, DMP1, IBSP, DSPP
46ascorbic acid43 249.5VDR, SPP1, IBSP, LEPRE1, TNC, DSPP
47estrogen438.2VDR, SPP1, IBSP, TNC, DSPP, COL1A1
48cysteine438.2VDR, SPP1, IBSP, TNC, DSPP, COL1A1
49serine437.7VDR, SPP1, IBSP, TNC, DSPP, MMP20
50calcium43 49 24 1210.3VDR, SPP1, DMP1, IBSP, TNC, DSPP

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 IGO:00055849.8COL1A2, COL1A1
2macromolecular complexGO:00329919.5LEPRE1, CRTAP
3extracellular matrixGO:00310129.4COL1A2, COL1A1, TNC
4endoplasmic reticulum lumenGO:00057889.0LEPRE1, FKBP10, COL1A1, COL1A2, CRTAP
5extracellular regionGO:00055768.0SPP1, DMP1, IBSP, TNC, DSPP, MMP20
6proteinaceous extracellular matrixGO:00055788.0ENAM, CRTAP, MEPE, MMP20, DSPP, LEPRE1
7extracellular spaceGO:00056157.9SPP1, TNC, MMP20, MEP1B, COL1A1, COL1A2

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:004358910.1COL1A1, COL1A2
2negative regulation of post-translational protein modificationGO:0190187410.1CRTAP, LEPRE1
3protein heterotrimerizationGO:007020810.0COL1A2, COL1A1
4positive regulation of cell-substrate adhesionGO:001081110.0DMP1, SPP1
5ossificationGO:000150310.0DSPP, IBSP, DMP1
6amelogenesisGO:009718610.0MMP20, ENAM
7chaperone-mediated protein foldingGO:00610779.9LEPRE1, CRTAP
8protein localization to nucleusGO:00345049.9MSX1, COL1A1
9collagen fibril organizationGO:00301999.9COL1A2, COL1A1, LEPRE1
10face morphogenesisGO:00603259.8COL1A1, MSX1
11decidualizationGO:00466979.7VDR, SPP1
12collagen catabolic processGO:00305749.7COL1A2, COL1A1, MMP20
13protein stabilizationGO:00508219.6CRTAP, MSX1, LEPRE1
14extracellular matrix disassemblyGO:00226179.5SPP1, MMP20, COL1A1, COL1A2
15platelet activationGO:00301689.3CD36, COL1A2, COL1A1
16cell adhesionGO:00071559.3CD36, TNC, IBSP, SPP1
17biomineral tissue developmentGO:00312148.8SPP1, DMP1, IBSP, DSPP, MEPE, ENAM
18skeletal system developmentGO:00015018.5VDR, DSPP, MEPE, COL1A1, COL1A2
19extracellular matrix organizationGO:00301987.6CRTAP, SPP1, DMP1, IBSP, LEPRE1, TNC

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:005084010.0DMP1, SPP1
2platelet-derived growth factor bindingGO:00484079.6COL1A2, COL1A1
3extracellular matrix structural constituentGO:00052018.7COL1A2, COL1A1, MEPE, DSPP

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet