DI
MCID: DNT011
MIFTS: 50

Dentinogenesis Imperfecta (DI) malady

Bone, Oral categories

Summaries for Dentinogenesis Imperfecta

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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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. Related mouse phenotypes are craniofacial and limbs/digits/tail.

Wikipedia:64 Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. This condition is a type of... more...

Description from OMIM:47 125500,125490

Aliases & Classifications for Dentinogenesis Imperfecta

Sources:
8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 47OMIM, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
dentinogenesis imperfecta:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Childhood


Aliases & Descriptions:

dentinogenesis imperfecta 8 21 10 45 49 61
dentinogenesis imperfecta without osteogenesis imperfecta 49 61
hereditary opalescent dentin 21 45
dgi 21 49
opalescent teeth without osteogenesis imperfecta 49
non-syndromic dentinogenesis imperfecta 49
opalescent teeth without oi 49
non-syndromic dgi 49
dgi without oi 49
di 49


External Ids:

Disease Ontology8 DOID:4154
MeSH35 D003811
NCIt40 C84667
MESH via Orphanet36 D003811
ICD10 via Orphanet26 K00.5
SNOMED-CT via Orphanet58 196286005
UMLS via Orphanet62 C0011436

Related Diseases for Dentinogenesis Imperfecta

Sources:
17GeneCards, 18GeneDecks
See all sources

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 221)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta31.3COL1A2, SP7, CD36, FKBP10, DSPP, PPIB
2dentinogenesis imperfecta 131.1DMP1, DSPP
3dentin dysplasia30.9DSPP, MEP1B, MEPE, ENAM, SPP1
4amelogenesis imperfecta30.8KLK4, AMELX, DSPP, DLX3, MMP25, ENAM
5osteogenesis imperfecta type i30.7COL1A2, COL1A1
6osteogenesis imperfecta type 430.2COL1A1, COL1A2
7short stature30.2CD36, DSPP, COL1A2
8osteoporosis30.2COL1A2, COL1A1, MEPE, CD36, SPP1, SP7
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 deficit10.3
13diabetes insipidus10.3
14bone fracture10.2
15osteopetrosis10.2
16short syndrome10.2
17chondrodysplasia10.2
18osteogenesis imperfecta type 1a10.2
19mental retardation10.2
20osteogenesis imperfecta type x10.2
21osteogenesis imperfecta type xii10.2
22acute leukemia10.2
23borrone di rocco crovato syndrome10.2
24hepatitis c10.1
25hepatitis d10.1
26tuberculosis10.1
27digeorge syndrome10.1
28sudden infant death syndrome10.1
29lyme disease10.1
30velocardiofacial syndrome10.1
31di guglielmo's syndrome10.1
32hypoxia10.1
33hepatitis c virus10.1
34tooth agenesis10.0
35cleft palate10.0DSPP
36root resorption10.0AMELX
37caffey disease10.0COL1A1
38calcinosis10.0SPP1
39primary hyperoxaluria10.0SPP1
40gingivitis10.0DSPP
41dental fluorosis10.0MMP25, AMELX
42taurodontism10.0DSPP, DLX3
43osteogenesis imperfecta, type ii10.0COL1A2, COL1A1
44osteogenesis imperfecta type iii10.0COL1A1, COL1A2
45col1a1/2-related osteogenesis imperfecta10.0COL1A2, COL1A1
46ehlers-danlos syndrome, classic type10.0DSPP, COL1A1, COL1A2
47hypophosphatemia10.0DMP1, MEPE, DSPP
48idiopathic juvenile osteoporosis10.0COL1A2, CD36
49osteofibrous dysplasia10.0CD36, SPP1
50osteomalacia10.0DMP1, MEPE, CD36

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



Diseases related to dentinogenesis imperfecta

Clinical Features for Dentinogenesis Imperfecta

Sources:
47OMIM
See all sources

Clinical features from OMIM:

125500,125490

Drugs & Therapeutics for Dentinogenesis Imperfecta

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Dentinogenesis Imperfecta

Sources:
31LifeMap Discovery™
See all sources

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Dentinogenesis Imperfecta:

37
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

Sources:
51PubMed
See all sources

Articles related to Dentinogenesis Imperfecta:

(show top 50)    (show all 174)
idTitleAuthorsYear
1
Diagnostic discussion. Dentinogenesis imperfecta. (23691614)
2013
2
Dentinogenesis Imperfecta : A Family which was Affected for Over Three Generations. (24086922)
2013
3
Dentinogenesis imperfecta: full-mouth rehabilitation using implants and sinus grafts--a case report. (23094570)
2012
4
Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. (21323831)
2011
5
General practitioner's radiology case 89. Dentinogenesis imperfecta. (21510175)
2011
6
Dentinogenesis imperfecta--clinical presentation and management. (20929150)
2010
7
Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families. (18797159)
2009
8
Pedigree analysis and prosthodontic treatment of patients with dentinogenesis imperfecta type II]. (19760002)
2009
9
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. (19029076)
2008
10
Dentinogenesis imperfecta: a case report. (18603736)
2008
11
Dentinogenesis imperfecta type II: an affected family saga. (17928732)
2007
12
SEM-morphology in dentinogenesis imperfecta type II: microscopic anatomy and efficacy of a dentine bonding system. (16646639)
2006
13
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. (15592686)
2005
14
Osteogenesis imperfecta and dentinogenesis imperfecta: associated disorders. (16163872)
2005
15
A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. (15241678)
2004
16
Dentinogenesis imperfecta associated with osteogenesis imperfecta: report of two cases. (12718392)
2003
17
Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta. (11286811)
2001
18
Dentinogenesis imperfecta-associated syndromes. (11746032)
2001
19
Dentinogenesis imperfecta: an early treatment strategy. (11447953)
2001
20
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. (9541230)
1998
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
Dentin matrix protein-1, a candidate gene for dentinogenesis imperfecta. (9084665)
1996
23
Mild forms of dentinogenesis imperfecta in association with osteogenesis imperfecta as characterized by light and transmission electron microscopy. (8835824)
1996
24
Mapping of the human dentin matrix acidic phosphoprotein gene (DMP1) to the dentinogenesis imperfecta type II critical region at chromosome 4q21. (8586437)
1995
25
Genetic mapping of the dentinogenesis imperfecta type II locus. (7573043)
1995
26
Hyperfibers and vesicles in dentin matrix in dentinogenesis imperfecta (DI) associated with osteogenesis imperfecta (OI). (7823299)
1994
27
Unusual dentinal changes in dentinogenesis imperfecta associated with osteogenesis imperfecta. A case report. (1574308)
1992
28
Dentinogenesis imperfecta: a case report. (1305296)
1992
29
Genetic marker study of dentinogenesis imperfecta. (1508884)
1992
30
The use of overdentures in patients with dentinogenesis imperfecta. (3268644)
1988
31
Dentinogenesis imperfecta type III with enamel and cementum defects. (2989751)
1985
32
Relation of mineralization defects in collagen matrices to noncollagenous protein components. Identification of a molecular defect in dentinogenesis imperfecta. (6851336)
1983
33
Dentinogenesis imperfecta in the Brandywine isolate (DI type III): clinical, radiologic, and scanning electron microscopic studies of the dentition. (6579461)
1983
34
Using laminate veneers to restore teeth affected with dentinogenesis imperfecta. (6953077)
1982
35
Linkage between dentinogenesis imperfecta and Gc. (7103411)
1982
36
Thirteen-year-old boy with dentinogenesis imperfecta - pedodontic and orthodontic treatment. (6949329)
1981
37
The inorganic phase in dentinogenesis imperfecta. (6943158)
1981
38
Removable overdentures in the oral rehabilitation of patients with dentinogenesis imperfecta. (296268)
1978
39
A case of dentinogenesis imperfecta. A six month evaluation. (266142)
1977
40
Dentinogenesis imperfecta. Report of a 5-generation family. (1062216)
1976
41
Composite technic for fracture related to dentinogenesis imperfecta. (1058810)
1975
42
The management of children and adolescents suffering from amelogenesis imperfecta and dentinogenesis imperfecta. (4280388)
1974
43
The amino-acid composition of human hard tissue collagens in osteogenesis imperfecta and dentinogenesis imperfecta. (4710795)
1973
44
Dentinogenesis imperfecta. (5173239)
1971
45
Dentinogenesis imperfecta. A clinical topic treated didactically. (5287711)
1971
46
Dentinogenesis imperfecta. (5275279)
1970
47
A case of osteogenesis imperfecta, associated with dentinogenesis imperfecta, dating from antiquity. (5417242)
1970
48
Dentinogenesis imperfecta: genetic variations in a six-generation family. (5262382)
1969
49
Hereditary dentinogenesis imperfecta. (13655173)
1959
50
Hereditary dentinogenesis imperfecta (opalescent dentine). (18132147)
1949

Genetic Variations for Dentinogenesis Imperfecta

Expression for genes affiliated with Dentinogenesis Imperfecta

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 52QIAGEN, 12EMD Millipore, 50PharmGKB, 30KEGG
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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
Hide members
10.0SPP1, COL1A1, COL1A2
710.0CD36, COL1A1, COL1A2
810.0COL1A2, COL1A1, CD36
910.0MEP1B, COL1A1, COL1A2
10
Cell adhesion ECM remodeling
Hide members
9.9COL1A2, COL1A1, MMP25
11
Hide members
9.9MMP25, COL1A1, COL1A2
12
Hide members
9.6COL1A2, COL1A1, MEPE, CD36, SPP1
13
Hide members
9.4SPP1, KLK4, COL1A2, COL1A1, PPIB, MMP25

Compounds for genes affiliated with Dentinogenesis Imperfecta

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 24HMDB, 29IUPHAR, 50PharmGKB
See all sources

Compounds related to Dentinogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1methylmethacrylate4510.5DSPP, SPP1
2miltefosine4510.5SPP1, DMP1
3Collagenase1110.4COL1A1, COL1A2
4calcium carbonate4510.4CD36
5rgd peptide4510.4CD36, DMP1
6silver nitrate4510.4DSPP, CD36
7nppa4510.4COL1A1, COL1A2
8grgds4510.3SPP1, CD36
9carbodiimide4510.3COL1A2, COL1A1, SPP1
10alizarin4510.3SP7, SPP1, CD36
11tannins4510.3CD36, DSPP
12tartrate4510.2DSPP, CD36
13procollagen4510.2COL1A2, COL1A1, CD36, SPP1
14calcitriol45 60 11 2413.1MEPE, DSPP, CD36, SPP1
15hydroxyapatite4510.1SPP1, ENAM, CD36, DSPP, DMP1
16ascorbic acid45 2411.1SP7, SPP1, CD36, DSPP
17nppb45 60 2912.0COL1A1, COL1A2
18vitamin d459.9COL1A2, COL1A1, DMP1, DSPP, CD36, SPP1
19polyglycolic acid459.9CD36, DSPP
20estrogen459.7KLK4, COL1A2, COL1A1, DSPP, CD36, SPP1
21dexamethasone45 50 29 1112.7DSPP, CD36, SPP1, SP7, COL1A1
22calcium45 50 11 2412.2COL1A2, COL1A1, DMP1, DSPP, CD36, MMP25

GO Terms for genes affiliated with Dentinogenesis Imperfecta

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet