DI
MCID: DNT011
MIFTS: 56

Dentinogenesis Imperfecta (DI) malady

Genetic diseases, Oral diseases, Rare diseases, Bone diseases categories

Summaries for Dentinogenesis Imperfecta

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22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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 dentinogenesis imperfecta 1 and osteogenesis 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:66 Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. This condition is a type of... more...

Description from OMIM:48 125500,125490

Aliases & Classifications for Dentinogenesis Imperfecta

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9Disease Ontology, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt, 48OMIM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
dentinogenesis imperfecta:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Childhood


Aliases & Descriptions:

dentinogenesis imperfecta 9 22 11 46 50 63
dentinogenesis imperfecta without osteogenesis imperfecta 50 63
hereditary opalescent dentin 22 46
dgi 22 50
opalescent teeth without osteogenesis imperfecta 50
non-syndromic dentinogenesis imperfecta 50
opalescent teeth without oi 50
non-syndromic dgi 50
dgi without oi 50
di 50


External Ids:

Disease Ontology9 DOID:4154
MeSH36 D003811
NCIt41 C84667
MESH via Orphanet37 D003811
ICD10 via Orphanet27 K00.5
SNOMED-CT via Orphanet60 196286005
UMLS via Orphanet64 C0011436

Related Diseases for Dentinogenesis Imperfecta

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18GeneCards, 19GeneDecks
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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 69)
idRelated DiseaseScoreTop Affiliating Genes
1dentinogenesis imperfecta 131.4DMP1, DSPP
2osteogenesis imperfecta31.2CRTAP, COL1A2, FKBP10, DSPP, CD36, COL1A1
3amelogenesis imperfecta30.8ENAM, DSPP, MMP20
4dentin dysplasia30.8ENAM, MEP1B, MEPE, MSX1, MMP20, DSPP
5osteogenesis imperfecta type 430.4COL1A1, COL1A2
6short stature30.4COL1A2, DSPP, CD36
7osteoporosis30.2COL1A1, VDR, SPP1, IBSP, MEPE, CD36
8tooth agenesis30.2MSX1, MMP20, DSPP
9dentinogenesis imperfecta shields type 310.7
10spondylometaphyseal dysplasia with dentinogenesis imperfecta10.7
11cortical defects wormian bones and dentinogenesis imperfecta10.4
12dentinogenesis imperfecta - short stature - hearing loss - intellectual disability10.4
13osteopetrosis10.2
14gingivitis10.2
15periodontitis10.2
16chondrodysplasia10.2
17osteogenesis imperfecta type 1a10.2
18skeletal dysplasias10.2
19dentin dysplasia, type ii10.2
20mental retardation10.2
21osteogenesis imperfecta type x10.2
22osteogenesis imperfecta type xii10.2
23osteogenesis imperfecta, type ii10.1COL1A1
24caffey disease10.1COL1A1
25dental fluorosis10.1MMP20
26osteofibrous dysplasia10.1CD36, SPP1
27collagen disease10.1CD36, COL1A1
28col1a1/2-related osteogenesis imperfecta10.1COL1A1, COL1A2
29gingival overgrowth10.1CD36, COL1A1, DSPP
30osteogenesis imperfecta type iii10.1COL1A1, COL1A2
31osteogenesis imperfecta type i10.1COL1A1, COL1A2
32idiopathic juvenile osteoporosis10.1CD36, COL1A2
33marfan syndrome10.1CD36, COL1A2
34ehlers–danlos syndrome classical type10.1DSPP, COL1A1, COL1A2
35bone carcinoma10.1SPP1, IBSP, CD36
36systemic scleroderma10.1COL1A2, COL1A1
37otosclerosis10.1CD36, COL1A2, COL1A1
38rickets10.1VDR, CD36
39lumbar disc disease10.1COL1A1, VDR
40tendinitis10.1TNC
41glomerulosclerosis10.1CD36, COL1A2, SPP1
42periodontal disease10.1CD36, DSPP, IBSP, SPP1
43renal osteodystrophy10.0VDR, CD36
44x-linked hypophosphatemia10.0VDR, MEPE, DMP1
45hyperphosphatemia10.0SPP1, VDR
46adenoameloblastoma10.0IBSP, DSPP, MMP20
47ehlers-danlos syndrome10.0DSPP, COL1A1, COL1A2, CD36
48connective tissue disease10.0COL1A1, DSPP, COL1A2, CD36
49primary hyperparathyroidism10.0VDR, IBSP, CD36
50nephrolithiasis10.0VDR, SPP1

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



Diseases related to dentinogenesis imperfecta

Symptoms for Dentinogenesis Imperfecta

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48OMIM
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Clinical features from OMIM:

125500,125490

Drugs & Therapeutics for Dentinogenesis Imperfecta

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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32LifeMap Discovery™, 34MalaCards
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MalaCards organs/tissues related to Dentinogenesis Imperfecta:

34
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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38MGI
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MGI Mouse Phenotypes related to Dentinogenesis Imperfecta:

38
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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53PubMed
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Articles related to Dentinogenesis Imperfecta:

(show top 50)    (show all 174)
idTitleAuthorsYear
1
Diagnostic discussion. Dentinogenesis imperfecta. (23691614)
2013
2
Dentinogenesis imperfecta associated with osteogenesis imperfecta. (23162594)
2012
3
Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. (21323831)
2011
4
Commentary. Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. (21323832)
2011
5
Case report: Rehabilitation of a child with dentinogenesis imperfecta and congenitally missing lateral incisors. (20932402)
2010
6
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family. (20146806)
2010
7
Dentinogenesis imperfecta: a review and case report of a family over four generations. (19075443)
2008
8
An integrated treatment approach: a case report for dentinogenesis imperfecta type II. (18604025)
2007
9
A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family. (17686168)
2007
10
Dentinogenesis imperfecta. (17802895)
2007
11
Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II. (17026502)
2006
12
Esthetic reconstruction of teeth in patient with dentinogenesis imperfecta--a case report. (16617603)
2006
13
A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse. (16025116)
2005
14
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. (15592686)
2005
15
All-ceramic restorations for complete-mouth rehabilitation in dentinogenesis imperfecta: a case report. (12666889)
2002
16
Diagnostic features and pedodontic-orthodontic management in dentinogenesis imperfecta type II: a case report. (12199890)
2002
17
The non-collagenous dentin matrix proteins are involved in dentinogenesis imperfecta type II (DGI-II). (10765957)
2000
18
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. (9541230)
1998
19
Dentinogenesis imperfecta: endodontic implications. Case report. (9868734)
1998
20
Familial tarda type osteogenesis imperfecta with dentinogenesis imperfecta Type I. Case report. (9241928)
1997
21
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
22
Dentinogenesis imperfecta: influence of an overdenture on gingival tissues and tooth mobility. (9151619)
1996
23
Carbamide peroxide bleaching of teeth with dentinogenesis imperfecta discoloration: report of a case. (8935109)
1995
24
Presence of dentin phosphoprotein in molars of a patient with dentinogenesis imperfecta type II. (8006116)
1994
25
Hyperfibers and vesicles in dentin matrix in dentinogenesis imperfecta (DI) associated with osteogenesis imperfecta (OI). (7823299)
1994
26
Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity. (1481841)
1992
27
Restoration of a dentition affected by dentinogenesis imperfecta using In-Ceram: a case report. (1300134)
1992
28
Unusual dentinal changes in dentinogenesis imperfecta associated with osteogenesis imperfecta. A case report. (1574308)
1992
29
Dentinogenesis imperfecta: a case report. (1305296)
1992
30
Study of the fine structure of human deciduous dentin with dentinogenesis imperfecta, with special reference to the mantle dentin]. (2133941)
1990
31
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. (3150442)
1988
32
Quantitative histological analysis of the human coronal dentine in dentinogenesis imperfecta types I and II. (3530219)
1986
33
Dentinogenesis imperfecta type III with enamel and cementum defects. (2989751)
1985
34
The ultrastructure of the dental tissues in dentinogenesis imperfecta in man. (3857040)
1985
35
Calvarial doughnut lesions with osteoporosis, multiple fractures, dentinogenesis imperfecta and tumorous changes in the jaws. (Report of a case). (6517811)
1984
36
Relation of mineralization defects in collagen matrices to noncollagenous protein components. Identification of a molecular defect in dentinogenesis imperfecta. (6851336)
1983
37
Osteogenesis imperfecta with dentinogenesis imperfecta: a mistaken case of child abuse. (6579500)
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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2BioGPS, 16Gene 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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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 52PharmGKB, 31KEGG, 61Thomson Reuters, 13EMD Millipore
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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
9.9COL1A2, 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
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 adhesion39
Focal Adhesion39
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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46Novoseek, 12DrugBank, 25HMDB, 52PharmGKB, 3BitterDB, 62Tocris Bioscience, 30IUPHAR
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Compounds related to Dentinogenesis Imperfecta according to GeneCards/GeneDecks:

(show top 50)    (show all 70)
idCompoundScoreTop Affiliating Genes
1rgd peptide4610.3CD36, DMP1
2fibroin4610.3IBSP, SPP1
3silver nitrate4610.2DSPP, CD36
4methylmethacrylate4610.2SPP1, IBSP, DSPP
5miltefosine4610.2IBSP, DMP1, SPP1
6nppa4610.2COL1A2, COL1A1
7grgds4610.1SPP1, IBSP, CD36
8alizarin4610.1SPP1, IBSP, CD36
9chitosan4610.1CD36, IBSP, SPP1
10ibandronate46 1211.1IBSP, CD36
11calcium carbonate4610.1DSPP, CD36
12carbodiimide4610.1SPP1, COL1A1, COL1A2
13hydroxyproline46 25 1212.0IBSP, COL1A1, CD36
14calcium oxalate4610.0SPP1, IBSP
15fluoride4610.0MMP20, DSPP, SPP1
16apai469.9VDR, COL1A1
1722-oxacalcitriol469.9VDR, CD36
18grgdsp469.9SPP1, IBSP
19alendronate46 52 1211.8CD36, DSPP, VDR
2025-hydroxyvitamin d469.8VDR, SPP1, CD36
21tannins469.7DSPP, CD36
22silver469.7DSPP, TNC, IBSP
23deoxypyridinoline469.7CD36, IBSP, VDR
24chondroitin sulfate46 2510.7CD36, TNC, SPP1
25titanium469.7SPP1, IBSP, TNC, CD36
26xbai469.6COL1A2, COL1A1, VDR
27glycosaminoglycan469.6IBSP, TNC, COL1A1, CD36
28hydroxyapatite469.5SPP1, DMP1, IBSP, DSPP, ENAM, CD36
291,25 dihydroxy vitamin d3469.5VDR, SPP1, IBSP, COL1A1
30matrigel469.4SPP1, DMP1, IBSP, TNC, CD36
31paraffin469.4SPP1, IBSP, TNC, DSPP, CD36
32ly294002469.3CD36, COL1A2, TNC, SPP1
33pge2469.3VDR, SPP1, IBSP, COL1A1, CD36
34aspartate469.2VDR, SPP1, DSPP, COL1A1, COL1A2
35vegf469.1SPP1, IBSP, TNC, COL1A1, CD36
36oligonucleotide469.1SPP1, IBSP, TNC, COL1A1, COL1A2
37chloramphenicol46 3 52 1212.1COL1A2, COL1A1, TNC, VDR
38procollagen469.1SPP1, IBSP, TNC, COL1A1, COL1A2, CD36
39creatinine468.9VDR, SPP1, IBSP, TNC, CD36
40cycloheximide468.9VDR, SPP1, IBSP, TNC, CD36
41calcitriol46 62 25 1211.8VDR, SPP1, DSPP, MEPE, CD36
42retinoic acid46 259.6VDR, SPP1, TNC, MSX1, COL1A1, CD36
43glutamate468.6DSPP, TNC, IBSP, SPP1, VDR
44dexamethasone46 52 30 1211.6VDR, SPP1, IBSP, TNC, DSPP, COL1A1
45vitamin d468.5CD36, VDR, SPP1, DMP1, IBSP, DSPP
46ascorbic acid46 259.5VDR, SPP1, IBSP, LEPRE1, TNC, DSPP
47estrogen468.2VDR, SPP1, IBSP, TNC, DSPP, COL1A1
48cysteine468.2VDR, SPP1, IBSP, TNC, DSPP, COL1A1
49serine467.7VDR, SPP1, IBSP, TNC, DSPP, MMP20
50calcium46 52 25 1210.3VDR, SPP1, DMP1, IBSP, TNC, DSPP

GO Terms for genes affiliated with Dentinogenesis Imperfecta

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17Gene Ontology
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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:0329919.5LEPRE1, CRTAP
3extracellular matrixGO:0310129.4COL1A2, COL1A1, TNC
4endoplasmic reticulum lumenGO:0057889.0LEPRE1, FKBP10, COL1A1, COL1A2, CRTAP
5extracellular regionGO:0055768.0SPP1, DMP1, IBSP, TNC, DSPP, MMP20
6proteinaceous extracellular matrixGO:0055788.0ENAM, CRTAP, MEPE, MMP20, DSPP, LEPRE1
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:190187410.1CRTAP, LEPRE1
3protein heterotrimerizationGO:07020810.0COL1A2, COL1A1
4positive regulation of cell-substrate adhesionGO:01081110.0DMP1, SPP1
5ossificationGO:00150310.0DSPP, IBSP, DMP1
6amelogenesisGO:09718610.0MMP20, ENAM
7chaperone-mediated protein foldingGO:0610779.9LEPRE1, CRTAP
8protein localization to nucleusGO:0345049.9MSX1, COL1A1
9collagen fibril organizationGO:0301999.9COL1A2, COL1A1, LEPRE1
10face morphogenesisGO:0603259.8COL1A1, MSX1
11decidualizationGO:0466979.7VDR, SPP1
12collagen catabolic processGO:0305749.7COL1A2, COL1A1, MMP20
13protein stabilizationGO:0508219.6CRTAP, MSX1, LEPRE1
14extracellular matrix disassemblyGO:0226179.5SPP1, MMP20, COL1A1, COL1A2
15platelet activationGO:0301689.3CD36, COL1A2, COL1A1
16cell adhesionGO:0071559.3CD36, TNC, IBSP, SPP1
17biomineral tissue developmentGO:0312148.8SPP1, DMP1, IBSP, DSPP, MEPE, ENAM
18skeletal system developmentGO:0015018.5VDR, DSPP, MEPE, COL1A1, COL1A2
19extracellular matrix organizationGO:0301987.6CRTAP, SPP1, DMP1, IBSP, LEPRE1, TNC

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
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Sources for Dentinogenesis Imperfecta

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet