MCID: DNT011
MIFTS: 42

Dentinogenesis Imperfecta malady

Categories: Rare diseases, Oral diseases, Bone diseases

Aliases & Classifications for Dentinogenesis Imperfecta

About this section
Sources:
33LifeMap Discovery®, 11Disease Ontology, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Dentinogenesis Imperfecta:

Name: Dentinogenesis Imperfecta 33 11 46 24 13 52 48 37 66
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta 46 52 66
Hereditary Opalescent Dentin 24 48 66
Dgi 24 52
Opalescent Teeth Without Osteogenesis Imperfecta 52
Non-Syndromic Dentinogenesis Imperfecta 52
 
Opalescent Teeth Without Oi 52
Non-Syndromic Dgi 52
Capdepont Teeth 46
Dgi Without Oi 52
Di 52

Characteristics:

Orphanet epidemiological data:

52
dentinogenesis imperfecta:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood

Classifications:



External Ids:

Disease Ontology11 DOID:4154
ICD1028 K00.5
MeSH37 D003811
NCIt43 C84667
Orphanet52 ORPHA49042
ICD10 via Orphanet29 K00.5
MESH via Orphanet38 D003811
UMLS via Orphanet67 C0011436

Summaries for Dentinogenesis Imperfecta

About this section
NIH Rare Diseases:46 Dentinogenesis imperfecta is a condition that results in issues with tooth development, causing the teeth to be translucent and discolored (most often a blue-gray or yellow-brown in color). individuals with this disorder tend to have teeth that are weaker than normal which leads to increased wear, breakage, and loss of the teeth. this can affect both primary (baby) and permanent teeth. dentinogenesis imperfecta is caused by mutations in the dspp gene and is inherited in an autosomal dominant manner.there are three types of dentinogenesis imperfecta. type i: occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle, causing them to break easily. type ii and type iii: usually occur in people without another inherited disorder. some families with type ii also have progressive hearing loss. type iii was first identified in a population in brandywine, maryland. some researchers believe that dentinogenesis imperfecta type ii and type iii, along with a similar condition called dentin dysplasia type ii, are actually just different forms of a single disorder. last updated: 12/3/2015

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.

Genetics Home Reference:24 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.

Wikipedia:69 Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. This condition is a type of... more...

Related Diseases for Dentinogenesis Imperfecta

About this section

Diseases in the Dentinogenesis Imperfecta family:

Dentinogenesis Imperfecta Type 3 Dentinogenesis Imperfecta Type 2

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

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type iv31.1COL1A1, COL1A2
2osteogenesis imperfecta, type ii29.1COL1A1, COL1A2, CRTAP, FKBP10
3osteogenesis imperfecta, type iii28.9COL1A1, COL1A2, CRTAP, DSPP, FKBP10
4dentinogenesis imperfecta, shields type ii12.6
5dentinogenesis imperfecta, shields type iii12.4
6dentinogenesis imperfecta type 212.3
7dentinogenesis imperfecta type 312.3
8spondylometaphyseal dysplasia with dentinogenesis imperfecta12.2
9cortical defects, wormian bones, and dentinogenesis imperfecta12.1
10dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome12.1
11deafness, autosomal dominant 39, with dentinogenesis11.6
12osteogenesis imperfecta11.1
13dentin dysplasia10.9
14infundibulo-neurohypophysitis10.5COL1A1, COL1A2
15contractures-webbed neck-micrognathia-hypoplastic nipples syndrome10.4COL1A1, COL1A2
16pex7-related refsum disease10.4COL1A1, COL1A2
17elliptocytosis 310.4COL1A1, COL1A2
18deafness, autosomal recessive 9110.4COL1A1, COL1A2
19hip dysplasia, beukes type10.4DMP1, DSPP
20mature cataract10.4COL1A2, DSPP
21amelogenesis imperfecta10.3
22mental retardation, autosomal recessive 3510.3COL1A1, COL1A2
23spinal cancer10.3DSPP, SPP1
24osteogenesis imperfecta, type x10.3
25osteogenesis imperfecta, type xii10.3
26ehlers-danlos syndrome, classic type10.3COL1A1, COL1A2
27ceroid lipofuscinosis, neuronal, 1110.2COL1A1, COL1A2
28osteogenesis imperfecta, type vii10.2
29osteogenesis imperfecta, type i10.2
30descending colon cancer10.2COL1A1, COL1A2
31vulvovaginal candidiasis10.1COL1A1, COL1A2
32spastic ataxia10.1DMP1, IBSP
33anaerobic meningitis10.1DSPP, SPP1
34osteogenesis imperfecta, type viii10.1
35bruck syndrome 210.1
36osteogenesis imperfecta, type xvii10.1
37osteogenesis imperfecta, type xiii10.1
38osteogenesis imperfecta, type xiv10.1
39osteogenesis imperfecta, type v10.1
40osteogenesis imperfecta, type xvi10.1
41osteogenesis imperfecta, type xv10.1
42osteogenesis imperfecta, type ix10.1
43osteogenesis imperfecta, type vi10.1
44osteogenesis imperfecta, type xi10.1
45dentin dysplasia, type ii10.0
46osteoporosis10.0
47osteopetrosis10.0
48gingivitis10.0
49periodontitis10.0
50skeletal dysplasias10.0

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



Diseases related to dentinogenesis imperfecta

Symptoms for Dentinogenesis Imperfecta

About this section

Drugs & Therapeutics for Dentinogenesis Imperfecta

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1BBD Longitudinal Study of Osteogenesis ImperfectaRecruitingNCT02432625
2Orodental Manifestations of Rare DiseasesRecruitingNCT02397824

Search NIH Clinical Center for Dentinogenesis Imperfecta


Cochrane evidence based reviews: dentinogenesis imperfecta

Genetic Tests for Dentinogenesis Imperfecta

About this section

Anatomical Context for Dentinogenesis Imperfecta

About this section

MalaCards organs/tissues related to Dentinogenesis Imperfecta:

34
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

About this section

MGI Mouse Phenotypes related to Dentinogenesis Imperfecta:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.1COL1A1, DMP1, FKBP10, IFITM5, SPP1
2MP:00053717.4COL1A1, COL1A2, DMP1, FKBP10, IBSP, IFITM5
3MP:00053786.8COL1A1, COL1A2, CRTAP, DMP1, FKBP10, IBSP
4MP:00053906.4COL1A1, COL1A2, CRTAP, DMP1, FKBP10, IBSP

Publications for Dentinogenesis Imperfecta

About this section

Articles related to Dentinogenesis Imperfecta:

(show top 50)    (show all 183)
idTitleAuthorsYear
1
Identification of a novel mutation of DSPP gene in a Chinese family affected with dentinogenesis imperfecta shields type II]. (26829730)
2016
2
A Case of Dentinogenesis Imperfecta Treated with Submerged Root Technique. (26501025)
2015
3
Adhesive Restorations as An Esthetic Solution in Dentinogenesis Imperfecta. (26731255)
2015
4
Multiple teeth fractures in dentinogenesis imperfecta: a case report. (25571690)
2014
5
Diagnostic discussion. Dentinogenesis imperfecta. (23691614)
2013
6
Clinical manifestations and dental management of dentinogenesis imperfecta associated with osteogenesis imperfecta: Case report. (24371383)
2013
7
Dentinogenesis imperfecta associated with osteogenesis imperfecta. (23162594)
2012
8
Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. (21323831)
2011
9
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family. (20146806)
2010
10
A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II. (19131317)
2009
11
Dentinogenesis imperfecta: a review and case report of a family over four generations. (19075443)
2008
12
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. (19029076)
2008
13
An integrated treatment approach: a case report for dentinogenesis imperfecta type II. (18604025)
2007
14
Dentinogenesis imperfecta. (17802895)
2007
15
Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II. (17026502)
2006
16
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. (15592686)
2005
17
Assessment of dysplastic dentin in osteogenesis imperfecta and dentinogenesis imperfecta. (12790503)
2003
18
Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III. (12721295)
2003
19
All-ceramic restorations for complete-mouth rehabilitation in dentinogenesis imperfecta: a case report. (12666889)
2002
20
Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta. (11286811)
2001
21
The non-collagenous dentin matrix proteins are involved in dentinogenesis imperfecta type II (DGI-II). (10765957)
2000
22
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. (9541230)
1998
23
Dentinogenesis imperfecta: endodontic implications. Case report. (9868734)
1998
24
Dentinogenesis imperfecta: a case report. (9790319)
1998
25
Familial tarda type osteogenesis imperfecta with dentinogenesis imperfecta Type I. Case report. (9241928)
1997
26
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
27
Dentinogenesis imperfecta: influence of an overdenture on gingival tissues and tooth mobility. (9151619)
1996
28
Strategies for rehabilitation in the treatment of dentinogenesis imperfecta in a child: a clinical report. (8648568)
1996
29
Dentin matrix protein-1, a candidate gene for dentinogenesis imperfecta. (9084665)
1996
30
Carbamide peroxide bleaching of teeth with dentinogenesis imperfecta discoloration: report of a case. (8935109)
1995
31
Hyperfibers and vesicles in dentin matrix in dentinogenesis imperfecta (DI) associated with osteogenesis imperfecta (OI). (7823299)
1994
32
ED-A region-containing isoform of cellular fibronectin is present in dentin matrix in dentinogenesis imperfecta associated with osteogenesis imperfecta. (8046108)
1994
33
Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity. (1481841)
1992
34
Unusual dentinal changes in dentinogenesis imperfecta associated with osteogenesis imperfecta. A case report. (1574308)
1992
35
Dentin phosphoprotein in dentin development: implications in dentinogenesis imperfecta. (1508875)
1992
36
A microradiographic and histological study of a case of dentinogenesis imperfecta type I]. (1820815)
1991
37
Quantitative histological analysis of the human coronal dentine in dentinogenesis imperfecta types I and II. (3530219)
1986
38
Dentinogenesis imperfecta type III with enamel and cementum defects. (2989751)
1985
39
Restorative treatment of dentinogenesis imperfecta in a young adult. (3864583)
1985
40
Osteogenesis imperfecta with dentinogenesis imperfecta: a mistaken case of child abuse. (6579500)
1983
41
Using laminate veneers to restore teeth affected with dentinogenesis imperfecta. (6953077)
1982
42
Linkage between dentinogenesis imperfecta and Gc. (7103411)
1982
43
Prosthetic treatment of dentinogenesis imperfecta. A case report. (7014802)
1981
44
Dentinogenesis imperfecta: evidence of qualitative alteration in the organic dentin matrix. (6777477)
1980
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

About this section

Expression for genes affiliated with Dentinogenesis Imperfecta

About this section
Search GEO for disease gene expression data for Dentinogenesis Imperfecta.

Pathways for genes affiliated with Dentinogenesis Imperfecta

About this section

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
79.5COL1A1, IBSP
8
Show member pathways
9.3COL1A1, COL1A2, CRTAP
99.3COL1A1, SPP1
109.1DMP1, DSPP, IBSP
11
Show member pathways
8.3COL1A1, COL1A2, IBSP, SPP1
128.3COL1A1, COL1A2, IBSP, SPP1
13
Show member pathways
8.3COL1A1, COL1A2, IBSP, SPP1
148.3COL1A1, COL1A2, IBSP, SPP1
15
Show member pathways
7.1COL1A1, COL1A2, CRTAP, DMP1, DSPP, IBSP

GO Terms for genes affiliated with Dentinogenesis Imperfecta

About this section

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
3membrane-bounded vesicleGO:00319889.7IBSP, SPP1
4extracellular matrixGO:00310129.4COL1A1, COL1A2, IBSP
5proteinaceous extracellular matrixGO:00055789.2COL1A1, CRTAP, DMP1, DSPP
6endoplasmic reticulum lumenGO:00057889.0COL1A1, COL1A2, CRTAP, FKBP10
7extracellular spaceGO:00056157.9COL1A1, COL1A2, CRTAP, IBSP, SPP1
8extracellular regionGO:00055767.3COL1A1, 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:007020810.3COL1A1, COL1A2
3collagen catabolic processGO:003057410.2COL1A1, COL1A2
4blood vessel developmentGO:000156810.0COL1A1, COL1A2
5collagen fibril organizationGO:00301999.9COL1A1, COL1A2
6chaperone-mediated protein foldingGO:00610779.7CRTAP, FKBP10
7cellular response to amino acid stimulusGO:00712309.7COL1A1, COL1A2
8bone mineralizationGO:00302829.6IBSP, IFITM5
9skeletal system developmentGO:00015019.6COL1A1, COL1A2, DSPP
10ossificationGO:00015039.4COL1A1, DMP1, DSPP
11response to steroid hormoneGO:00485459.3COL1A1, SPP1
12biomineral tissue developmentGO:00312149.0DMP1, DSPP, SPP1
13osteoblast differentiationGO:00016498.9COL1A1, IBSP, SPP1
14extracellular matrix organizationGO:00301987.6COL1A1, 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:00484079.9COL1A1, COL1A2
2extracellular matrix structural constituentGO:00052019.4COL1A1, COL1A2, DSPP
3extracellular matrix bindingGO:00508409.2DMP1, SPP1

Sources for Dentinogenesis Imperfecta

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet