DGI
MCID: DNT011
MIFTS: 55

Dentinogenesis Imperfecta (DGI) malady

Genetic diseases, Oral diseases, Bone diseases, Rare diseases categories
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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 1 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:65 Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. This condition is a type of... more...

Descriptions from OMIM:46 125500,125490

Aliases & Classifications for Dentinogenesis Imperfecta

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Dentinogenesis Imperfecta, Aliases & Descriptions:

Name: Dentinogenesis Imperfecta 30 8 21 10 44 62
Hereditary Opalescent Dentin 21 44
 
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta 62
Dgi 21


Classifications:

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


External Ids:

Disease Ontology8 DOID:4154
NCIt39 C84667
MeSH34 D003811

Related Diseases for Dentinogenesis Imperfecta

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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 68)
idRelated DiseaseScoreTop Affiliating Genes
1dentinogenesis imperfecta 131.9DSPP, DMP1
2amelogenesis imperfecta31.1DSPP, MMP20, ENAM
3osteogenesis imperfecta type 430.9COL1A2, COL1A1
4osteogenesis imperfecta30.8IBSP, CD36, CRTAP, COL1A2, COL1A1, FKBP10
5tooth agenesis30.7DSPP, MSX1
6dentin dysplasia30.4MEPE, MSX1, MMP20, DSPP, IBSP, SPP1
7osteoporosis29.9VDR, SPP1, IBSP, MEPE, COL1A1, COL1A2
8dentinogenesis imperfecta shields type 310.8
9spondylometaphyseal dysplasia with dentinogenesis imperfecta10.7
10osteogenesis imperfecta, type ii10.5COL1A1
11caffey disease10.5COL1A1
12cortical defects wormian bones and dentinogenesis imperfecta10.5
13dental fluorosis10.4MMP20
14osteofibrous dysplasia10.4SPP1, CD36
15collagen disease10.4COL1A1, CD36
16dentinogenesis imperfecta - short stature - hearing loss - intellectual disability10.4
17osteogenesis imperfecta type iii10.4COL1A1, COL1A2
18gingival overgrowth10.4CD36, COL1A1, DSPP
19col1a1/2-related osteogenesis imperfecta10.4COL1A2, COL1A1
20osteogenesis imperfecta type i10.4COL1A2, COL1A1
21idiopathic juvenile osteoporosis10.3CD36, COL1A2
22marfan syndrome10.3CD36, COL1A2
23ehlers–danlos syndrome classical type10.3DSPP, COL1A1, COL1A2
24bone cancer10.3SPP1, IBSP, CD36
25otosclerosis10.3COL1A1, COL1A2, CD36
26systemic scleroderma10.3COL1A2, COL1A1
27rickets10.3CD36, VDR
28lumbar disc disease10.3COL1A1, VDR
29tendinitis10.3TNC
30glomerulosclerosis10.2CD36, COL1A2, SPP1
31periodontal disease10.2SPP1, IBSP, DSPP, CD36
32short stature10.2DSPP, COL1A2, CD36
33renal osteodystrophy10.2CD36, VDR
34osteopetrosis10.2
35gingivitis10.2
36periodontitis10.2
37chondrodysplasia10.2
38osteogenesis imperfecta type 1a10.2
39skeletal dysplasias10.2
40dentin dysplasia, type ii10.2
41osteogenesis imperfecta type x10.2
42osteogenesis imperfecta type xii10.2
43x-linked hypophosphatemia10.2MEPE, DMP1, VDR
44hyperphosphatemia10.2SPP1, VDR
45ameloblastoma10.2MMP20, DSPP, IBSP
46ehlers-danlos syndrome10.2DSPP, COL1A1, COL1A2, CD36
47connective tissue disease10.2DSPP, COL1A1, COL1A2, CD36
48primary hyperparathyroidism10.2VDR, IBSP, CD36
49hypophosphatemia10.1VDR, DMP1, DSPP, MEPE
50nephrolithiasis10.1SPP1, VDR

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



Diseases related to dentinogenesis imperfecta

Symptoms for Dentinogenesis Imperfecta

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Clinical features from OMIM:

125500,125490

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:

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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MGI Mouse Phenotypes related to Dentinogenesis Imperfecta:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8TNC, MSX1, COL1A1, VDR
2MP:00107718.3VDR, SPP1, MSX1, COL1A1, COL1A2, LEPRE1
3MP:00053698.2MSX1, LEPRE1, SPP1, VDR, COL1A1, CD36
4MP:00053827.8MSX1, MMP20, DSPP, SMPD3, DMP1, COL1A1
5MP:00053867.6SPP1, TNC, VDR, CD36, COL1A2, COL1A1
6MP:00053717.5VDR, FKBP10, MSX1, COL1A1, COL1A2, LEPRE1
7MP:00053767.2ENAM, MSX1, COL1A1, MEP1B, TNC, SMPD3
8MP:00053786.7CRTAP, LEPRE1, CD36, COL1A2, COL1A1, MEP1B
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 175)
idTitleAuthorsYear
1
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification. (25118030)
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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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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Pathways related to Dentinogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0COL1A1, IBSP
2
Show member pathways
9.9COL1A1, COL1A2
39.9COL1A2, COL1A1
49.7CD36, SMPD3
5
Show member pathways
9.6COL1A2, CD36, COL1A1
69.6COL1A2, CD36, COL1A1
79.6COL1A2, COL1A1, MEP1B
89.5TNC, IBSP, SPP1
99.4SPP1, COL1A1, VDR
109.3DMP1, IBSP, TNC, DSPP
11
Show member pathways
8.9TNC, MMP20, COL1A1, COL1A2
128.8COL1A2, SPP1, IBSP, COL1A1, TNC
138.7COL1A2, COL1A1, IBSP, SPP1, VDR
14
Show member pathways
8.7CRTAP, LEPRE1, MMP20, COL1A2, COL1A1
15
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
8.6SPP1, IBSP, COL1A1, CD36, COL1A2, TNC
16
Show member pathways
8.3SPP1, TNC, MEPE, COL1A1, COL1A2
17
Show member pathways
8.3SPP1, TNC, COL1A2, MEPE, COL1A1
18
Show member pathways
7.6MMP20, CD36, COL1A2, COL1A1, MEPE, TNC
19
Show member pathways
7.3COL1A1, SPP1, DMP1, COL1A2, IBSP, LEPRE1

Compounds for genes affiliated with Dentinogenesis Imperfecta

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Compounds related to Dentinogenesis Imperfecta according to GeneCards/GeneDecks:

(show top 50)    (show all 70)
idCompoundScoreTop Affiliating Genes
1rgd peptide4410.3DMP1, CD36
2fibroin4410.3SPP1, IBSP
3silver nitrate4410.2DSPP, CD36
4methylmethacrylate4410.2SPP1, DSPP, IBSP
5miltefosine4410.2DMP1, SPP1, IBSP
6nppa4410.2COL1A1, COL1A2
7ibandronate44 1111.2IBSP, CD36
8grgds4410.1IBSP, SPP1, CD36
9alizarin4410.1CD36, SPP1, IBSP
10chitosan4410.1SPP1, CD36, IBSP
11calcium carbonate4410.1CD36, DSPP
12carbodiimide4410.1COL1A1, SPP1, COL1A2
13hydroxyproline44 24 1112.0CD36, IBSP, COL1A1
14calcium oxalate4410.0SPP1, IBSP
15fluoride4410.0DSPP, SPP1, MMP20
16apai449.9COL1A1, VDR
1722-oxacalcitriol449.9VDR, CD36
18grgdsp449.9IBSP, SPP1
19alendronate44 50 1111.8CD36, DSPP, VDR
2025-hydroxyvitamin d449.8VDR, SPP1, CD36
21tannins449.7DSPP, CD36
22silver449.7TNC, IBSP, DSPP
23deoxypyridinoline449.7IBSP, VDR, CD36
24chondroitin sulfate44 2410.7CD36, TNC, SPP1
25titanium449.7CD36, SPP1, IBSP, TNC
26xbai449.6VDR, COL1A2, COL1A1
27glycosaminoglycan449.6TNC, CD36, COL1A1, IBSP
28hydroxyapatite449.5SPP1, CD36, IBSP, DSPP, DMP1, ENAM
291,25 dihydroxy vitamin d3449.5IBSP, SPP1, VDR, COL1A1
30matrigel449.4TNC, SPP1, DMP1, IBSP, CD36
31paraffin449.4TNC, DSPP, CD36, IBSP, SPP1
32ly294002449.3TNC, COL1A2, SPP1, CD36
33pge2449.3VDR, IBSP, COL1A1, CD36, SPP1
34aspartate449.2VDR, SPP1, COL1A2, COL1A1, DSPP
35vegf449.1SPP1, TNC, COL1A1, IBSP, CD36
36oligonucleotide449.1COL1A2, COL1A1, TNC, IBSP, SPP1
37chloramphenicol44 2 50 1112.1TNC, COL1A2, COL1A1, VDR
38procollagen449.1CD36, COL1A2, COL1A1, TNC, IBSP, SPP1
39creatinine448.9CD36, TNC, IBSP, SPP1, VDR
40cycloheximide448.9CD36, IBSP, SPP1, VDR, TNC
41calcitriol44 61 24 1111.8CD36, MEPE, DSPP, SPP1, VDR
42retinoic acid44 249.6COL1A1, CD36, MSX1, VDR, SPP1, TNC
43glutamate448.6VDR, SPP1, IBSP, TNC, DSPP
44dexamethasone44 50 28 1111.6CD36, COL1A1, DSPP, TNC, IBSP, SPP1
45vitamin d448.5IBSP, VDR, DSPP, SPP1, DMP1, COL1A1
46ascorbic acid44 249.5SPP1, DSPP, TNC, LEPRE1, IBSP, VDR
47estrogen448.2CD36, IBSP, COL1A2, SPP1, VDR, DSPP
48cysteine448.2IBSP, SPP1, VDR, TNC, DSPP, COL1A1
49serine447.7SPP1, IBSP, CD36, COL1A2, COL1A1, MMP20
50calcium44 50 24 1110.3ENAM, VDR, CD36, COL1A2, COL1A1, MMP20

GO Terms for genes affiliated with Dentinogenesis Imperfecta

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Cellular components related to Dentinogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:0055849.8COL1A2, COL1A1
2macromolecular complexGO:0329919.5CRTAP, LEPRE1
3extracellular matrixGO:0310129.4COL1A2, COL1A1, TNC
4endoplasmic reticulum lumenGO:0057889.0LEPRE1, FKBP10, COL1A1, COL1A2, CRTAP
5extracellular regionGO:0055768.0COL1A2, COL1A1, MMP20, DSPP, TNC, IBSP
6proteinaceous extracellular matrixGO:0055788.0MMP20, MEPE, CRTAP, ENAM, LEPRE1, DMP1
7extracellular spaceGO:0056157.9SPP1, TNC, MMP20, MEP1B, COL1A1, COL1A2

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:04358910.1COL1A1, COL1A2
2negative regulation of post-translational protein modificationGO:190187410.1LEPRE1, CRTAP
3protein heterotrimerizationGO:07020810.0COL1A2, COL1A1
4positive regulation of cell-substrate adhesionGO:01081110.0DMP1, SPP1
5ossificationGO:00150310.0DSPP, IBSP, DMP1
6amelogenesisGO:09718610.0ENAM, MMP20
7protein localization to nucleusGO:0345049.9MSX1, COL1A1
8chaperone-mediated protein foldingGO:0610779.9CRTAP, LEPRE1
9collagen fibril organizationGO:0301999.9COL1A1, COL1A2, LEPRE1
10face morphogenesisGO:0603259.8MSX1, COL1A1
11decidualizationGO:0466979.8VDR, SPP1
12collagen catabolic processGO:0305749.7COL1A2, MMP20, COL1A1
13protein stabilizationGO:0508219.6CRTAP, MSX1, LEPRE1
14extracellular matrix disassemblyGO:0226179.5COL1A2, SPP1, MMP20, COL1A1
15platelet activationGO:0301689.3CD36, COL1A2, COL1A1
16cell adhesionGO:0071559.3IBSP, SPP1, CD36, TNC
17biomineral tissue developmentGO:0312148.8DMP1, ENAM, DSPP, SPP1, MEPE, IBSP
18skeletal system developmentGO:0015018.5COL1A2, VDR, DSPP, MEPE, COL1A1
19extracellular matrix organizationGO:0301987.6CRTAP, IBSP, DMP1, SPP1, TNC, LEPRE1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:05084010.0DMP1, SPP1
2platelet-derived growth factor bindingGO:0484079.6COL1A2, COL1A1
3extracellular matrix structural constituentGO:0052018.7COL1A2, COL1A1, MEPE, DSPP

Products for genes affiliated with Dentinogenesis Imperfecta

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet