MCID: DNT011
MIFTS: 42

Dentinogenesis Imperfecta malady

Categories: Rare diseases, Oral diseases, Bone diseases

Aliases & Classifications for Dentinogenesis Imperfecta

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Sources:
11Disease Ontology, 13DISEASES, 25Genetics Home Reference, 29ICD10, 30ICD10 via Orphanet, 34LifeMap Discovery®, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Dentinogenesis Imperfecta:

Name: Dentinogenesis Imperfecta 34 11 47 25 53 49 38 13 67
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta 47 53 67
Hereditary Opalescent Dentin 25 49 67
Dgi 25 53
Opalescent Teeth Without Osteogenesis Imperfecta 53
Non-Syndromic Dentinogenesis Imperfecta 53
 
Opalescent Teeth Without Oi 53
Non-Syndromic Dgi 53
Opalescent Dentin 67
Capdepont Teeth 47
Dgi Without Oi 53
Di 53

Characteristics:

Orphanet epidemiological data:

53
dentinogenesis imperfecta:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood

Classifications:



External Ids:

Disease Ontology11 DOID:4154
ICD1029 K00.5
MeSH38 D003811
NCIt44 C84667
Orphanet53 ORPHA49042
ICD10 via Orphanet30 K00.5
MESH via Orphanet39 D003811
UMLS via Orphanet68 C0011436

Summaries for Dentinogenesis Imperfecta

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Genetics Home Reference:25 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 dentinogenesis imperfecta without osteogenesis imperfecta, is related to osteogenesis imperfecta, type iv and osteogenesis imperfecta, type ii. An important gene associated with Dentinogenesis Imperfecta is DSPP (Dentin Sialophosphoprotein), and among its related pathways are Platelet Aggregation Inhibitor Pathway, Pharmacodynamics and Inflammatory Response Pathway. Affiliated tissues include bone, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Wikipedia:70 Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. This condition is a type of... more...

Related Diseases for Dentinogenesis Imperfecta

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Diseases in the Dentinogenesis Imperfecta family:

Dentinogenesis Imperfecta Type 2 Dentinogenesis Imperfecta Type 3

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

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type iv32.4COL1A1, COL1A2
2osteogenesis imperfecta, type ii30.6COL1A1, COL1A2, CRTAP, FKBP10
3osteogenesis imperfecta, type iii30.5COL1A1, COL1A2, CRTAP, DSPP, FKBP10
4dentinogenesis imperfecta, shields type ii12.5
5dentinogenesis imperfecta, shields type iii12.4
6dentinogenesis imperfecta type 212.1
7dentinogenesis imperfecta type 312.1
8spondylometaphyseal dysplasia with dentinogenesis imperfecta12.1
9cortical defects, wormian bones, and dentinogenesis imperfecta12.0
10dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome11.9
11deafness, autosomal dominant 39, with dentinogenesis11.8
12dentin dysplasia11.4
13osteogenesis imperfecta, type x11.2
14osteogenesis imperfecta, type xii11.2
15osteogenesis imperfecta, type vii11.1
16osteogenesis imperfecta, type i11.1
17osteogenesis imperfecta, type viii11.0
18bruck syndrome 211.0
19osteogenesis imperfecta, type xvii11.0
20osteogenesis imperfecta, type xiii11.0
21osteogenesis imperfecta, type xiv11.0
22osteogenesis imperfecta, type v11.0
23osteogenesis imperfecta, type xvi11.0
24osteogenesis imperfecta, type xv11.0
25osteogenesis imperfecta, type ix11.0
26osteogenesis imperfecta, type vi11.0
27osteogenesis imperfecta, type xi11.0
28osteogenesis imperfecta10.6
29infundibulo-neurohypophysitis10.4COL1A1, COL1A2
30contractures-webbed neck-micrognathia-hypoplastic nipples syndrome10.4COL1A1, COL1A2
31pex7-related refsum disease10.4COL1A1, COL1A2
32elliptocytosis 310.4COL1A1, COL1A2
33deafness, autosomal recessive 9110.3COL1A1, COL1A2
34hip dysplasia, beukes type10.3DMP1, DSPP
35mature cataract10.3COL1A2, DSPP
36mental retardation, autosomal recessive 3510.3COL1A1, COL1A2
37ehlers-danlos syndrome, classic type10.2COL1A1, COL1A2
38amelogenesis imperfecta10.2
39spinal cancer10.2DSPP, SPP1
40ceroid lipofuscinosis, neuronal, 1110.2COL1A1, COL1A2
41descending colon cancer10.1COL1A1, COL1A2
42vulvovaginal candidiasis10.1COL1A1, COL1A2
43spastic ataxia10.1DMP1, IBSP
44hodgkin's lymphoma, lymphocytic-histiocytic predominance10.0COL1A1, COL1A2
45ehlers-danlos syndrome, cardiac valvular form10.0COL1A1, COL1A2, CRTAP
46anaerobic meningitis10.0DSPP, SPP1
47dentin dysplasia, type ii9.9
48osteoporosis9.9
49osteopetrosis9.9
50gingivitis9.9

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Dental Malocclusion and Craniofacial Development in OIRecruitingNCT02934451
2BBD Longitudinal Study of Osteogenesis ImperfectaRecruitingNCT02432625
3Orodental Manifestations of Rare DiseasesRecruitingNCT02397824

Search NIH Clinical Center for Dentinogenesis Imperfecta


Cochrane evidence based reviews: 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:

35
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 ToothDentinOdontoblasts Affected by disease

Animal Models for Dentinogenesis Imperfecta or affiliated genes

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MGI Mouse Phenotypes related to Dentinogenesis Imperfecta:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9COL1A1, DMP1, FKBP10, IFITM5, SPP1
2MP:00053718.1COL1A1, COL1A2, DMP1, FKBP10, IBSP, IFITM5
3MP:00053787.7COL1A1, COL1A2, CRTAP, DMP1, FKBP10, IBSP
4MP:00053906.4COL1A1, COL1A2, CRTAP, DMP1, FKBP10, IBSP

Publications for Dentinogenesis Imperfecta

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Articles related to Dentinogenesis Imperfecta:

(show top 50)    (show all 185)
idTitleAuthorsYear
1
Identification of a novel mutation of DSPP gene in a Chinese family affected with dentinogenesis imperfecta shields type II]. (26829730)
2016
2
Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia. (27973701)
2016
3
Dental Management of a Child with Dentinogenesis Imperfecta: A Case Report. (27928242)
2016
4
A Case of Dentinogenesis Imperfecta Treated with Submerged Root Technique. (26501025)
2015
5
Adhesive Restorations as An Esthetic Solution in Dentinogenesis Imperfecta. (26731255)
2015
6
Multiple teeth fractures in dentinogenesis imperfecta: a case report. (25571690)
2014
7
Diagnostic discussion. Dentinogenesis imperfecta. (23691614)
2013
8
Clinical manifestations and dental management of dentinogenesis imperfecta associated with osteogenesis imperfecta: Case report. (24371383)
2013
9
Dentinogenesis imperfecta associated with osteogenesis imperfecta. (23162594)
2012
10
Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. (21323831)
2011
11
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family. (20146806)
2010
12
A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II. (19131317)
2009
13
Dentinogenesis imperfecta: a review and case report of a family over four generations. (19075443)
2008
14
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. (19029076)
2008
15
An integrated treatment approach: a case report for dentinogenesis imperfecta type II. (18604025)
2007
16
Dentinogenesis imperfecta. (17802895)
2007
17
Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II. (17026502)
2006
18
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. (15592686)
2005
19
Assessment of dysplastic dentin in osteogenesis imperfecta and dentinogenesis imperfecta. (12790503)
2003
20
Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III. (12721295)
2003
21
All-ceramic restorations for complete-mouth rehabilitation in dentinogenesis imperfecta: a case report. (12666889)
2002
22
Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta. (11286811)
2001
23
The non-collagenous dentin matrix proteins are involved in dentinogenesis imperfecta type II (DGI-II). (10765957)
2000
24
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. (9541230)
1998
25
Dentinogenesis imperfecta: endodontic implications. Case report. (9868734)
1998
26
Dentinogenesis imperfecta: a case report. (9790319)
1998
27
Familial tarda type osteogenesis imperfecta with dentinogenesis imperfecta Type I. Case report. (9241928)
1997
28
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
29
Dentinogenesis imperfecta: influence of an overdenture on gingival tissues and tooth mobility. (9151619)
1996
30
Strategies for rehabilitation in the treatment of dentinogenesis imperfecta in a child: a clinical report. (8648568)
1996
31
Dentin matrix protein-1, a candidate gene for dentinogenesis imperfecta. (9084665)
1996
32
Carbamide peroxide bleaching of teeth with dentinogenesis imperfecta discoloration: report of a case. (8935109)
1995
33
Hyperfibers and vesicles in dentin matrix in dentinogenesis imperfecta (DI) associated with osteogenesis imperfecta (OI). (7823299)
1994
34
ED-A region-containing isoform of cellular fibronectin is present in dentin matrix in dentinogenesis imperfecta associated with osteogenesis imperfecta. (8046108)
1994
35
Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity. (1481841)
1992
36
Unusual dentinal changes in dentinogenesis imperfecta associated with osteogenesis imperfecta. A case report. (1574308)
1992
37
Dentin phosphoprotein in dentin development: implications in dentinogenesis imperfecta. (1508875)
1992
38
Quantitative histological analysis of the human coronal dentine in dentinogenesis imperfecta types I and II. (3530219)
1986
39
Dentinogenesis imperfecta type III with enamel and cementum defects. (2989751)
1985
40
Restorative treatment of dentinogenesis imperfecta in a young adult. (3864583)
1985
41
Osteogenesis imperfecta with dentinogenesis imperfecta: a mistaken case of child abuse. (6579500)
1983
42
Using laminate veneers to restore teeth affected with dentinogenesis imperfecta. (6953077)
1982
43
Linkage between dentinogenesis imperfecta and Gc. (7103411)
1982
44
Prosthetic treatment of dentinogenesis imperfecta. A case report. (7014802)
1981
45
Dentinogenesis imperfecta--a method of semipermanent restoration. (287697)
1978
46
Dentinogenesis imperfecta. (4512282)
1973
47
Dentinogenesis imperfecta. (5275279)
1970
48
Classical and atypical dentinogenesis imperfecta in a four year old male. (4893599)
1969
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 15)
idSuper pathwaysScoreTop Affiliating Genes
19.8COL1A1, COL1A2
29.8COL1A1, COL1A2
39.8COL1A1, COL1A2
49.8COL1A1, COL1A2
59.8COL1A1, COL1A2
69.8COL1A1, COL1A2
79.7COL1A1, SPP1
89.3COL1A1, IBSP
9
Show member pathways
9.2COL1A1, COL1A2, CRTAP
108.9DMP1, DSPP, IBSP
11
Show member pathways
8.5COL1A1, COL1A2, IBSP, SPP1
128.5COL1A1, COL1A2, IBSP, SPP1
13
Show member pathways
8.5COL1A1, COL1A2, IBSP, SPP1
148.5COL1A1, COL1A2, IBSP, SPP1
15
Show member pathways
7.2COL1A1, COL1A2, CRTAP, DMP1, DSPP, IBSP

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 I trimerGO:000558410.4COL1A1, COL1A2
2collagen trimerGO:000558110.3COL1A1, COL1A2
3extracellular matrixGO:00310129.1COL1A1, COL1A2, IBSP
4proteinaceous extracellular matrixGO:00055789.0COL1A1, CRTAP, DMP1, DSPP
5endoplasmic reticulum lumenGO:00057888.9COL1A1, COL1A2, CRTAP, FKBP10
6extracellular spaceGO:00056158.0COL1A1, COL1A2, CRTAP, IBSP, SPP1
7extracellular regionGO:00055767.4COL1A1, COL1A2, DMP1, DSPP, IBSP, SPP1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:004358910.3COL1A1, COL1A2
2protein heterotrimerizationGO:007020810.2COL1A1, COL1A2
3response to steroid hormoneGO:004854510.2COL1A1, SPP1
4collagen catabolic processGO:003057410.1COL1A1, COL1A2
5blood vessel developmentGO:000156810.1COL1A1, COL1A2
6collagen fibril organizationGO:00301999.8COL1A1, COL1A2
7cellular response to amino acid stimulusGO:00712309.8COL1A1, COL1A2
8ossificationGO:00015039.7COL1A1, DMP1, DSPP
9biomineral tissue developmentGO:00312149.6DMP1, DSPP, SPP1
10skeletal system developmentGO:00015019.6COL1A1, COL1A2, DSPP
11bone mineralizationGO:00302829.5IBSP, IFITM5
12chaperone-mediated protein foldingGO:00610779.3CRTAP, FKBP10
13osteoblast differentiationGO:00016499.0COL1A1, IBSP, SPP1
14extracellular matrix organizationGO:00301987.4COL1A1, COL1A2, DMP1, DSPP, IBSP, SPP1

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:00484079.8COL1A1, COL1A2
2extracellular matrix bindingGO:00508409.6DMP1, SPP1
3extracellular matrix structural constituentGO:00052019.4COL1A1, COL1A2, DSPP

Sources for Dentinogenesis Imperfecta

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet