MCID: DNT011
MIFTS: 47

Dentinogenesis Imperfecta malady

Categories: Rare diseases, Oral diseases, Bone diseases

Aliases & Classifications for Dentinogenesis Imperfecta

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Sources:
32LifeMap Discovery®, 10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Dentinogenesis Imperfecta:

Name: Dentinogenesis Imperfecta 32 10 45 23 47 12 51 36 65
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta 45 51 65
Hereditary Opalescent Dentin 23 47 65
Dgi 23 51
Opalescent Teeth Without Osteogenesis Imperfecta 51
Non-Syndromic Dentinogenesis Imperfecta 51
 
Opalescent Teeth Without Oi 51
Non-Syndromic Dgi 51
Capdepont Teeth 45
Dgi Without Oi 51
Di 51

Characteristics:

Orphanet epidemiological data:

51
dentinogenesis imperfecta:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood

Classifications:



External Ids:

Disease Ontology10 DOID:4154
ICD1027 K00.5
MeSH36 D003811
NCIt42 C84667
Orphanet51 49042
ICD10 via Orphanet28 K00.5
MESH via Orphanet37 D003811
UMLS via Orphanet66 C0011436
UMLS65 C0011436, C2973527, C0205730

Summaries for Dentinogenesis Imperfecta

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NIH Rare Diseases:45 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 iii. An important gene associated with Dentinogenesis Imperfecta is DSPP (Dentin Sialophosphoprotein), and among its related pathways are Platelet Aggregation Inhibitor Pathway, Pharmacodynamics and Cell adhesion_ECM remodeling. Affiliated tissues include bone, lung and breast, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Genetics Home Reference:23 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:68 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 67)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type iv31.2COL1A1, COL1A2
2osteogenesis imperfecta, type iii29.1COL1A1, COL1A2, CRTAP, DSPP, FKBP10
3osteogenesis imperfecta, type ii28.6COL1A1, COL1A2, CRTAP, FKBP10, SERPINH1
4dentinogenesis imperfecta, shields type ii12.5
5dentinogenesis imperfecta type 312.4
6dentinogenesis imperfecta, shields type iii12.4
7dentinogenesis imperfecta type 212.3
8spondylometaphyseal dysplasia with dentinogenesis imperfecta12.1
9cortical defects wormian bones and dentinogenesis imperfecta12.1
10skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta12.1
11dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome12.1
12deafness, autosomal dominant 39, with dentinogenesis11.7
13osteogenesis imperfecta11.1
14dentin dysplasia10.9
15congenital trigeminal anesthesia10.5COL1A1, COL1A2
16col4a1-related disorders10.5COL1A1, COL1A2
17idiopathic linear interstitial keratitis10.5COL1A1, COL1A2
18eif4g1-related parkinson disease10.5COL1A1, COL1A2
19spinocerebellar ataxia, autosomal recessive 1810.4DMP1, DSPP
20anodontia10.4COL1A2, DSPP
21huriez syndrome10.4DMP1, DSPP
22caffey disease10.4COL1A1, COL1A2
23mental retardation, autosomal recessive 3510.4COL1A1, COL1A2
24amelogenesis imperfecta10.3
25lymph node adenoid cystic carcinoma10.3COL1A1, COL1A2
26osteogenesis imperfecta, type x10.3
27osteogenesis imperfecta, type xii10.3
28ehlers-danlos syndrome, classic type10.3COL1A1, COL1A2
29trigeminal nerve disease10.3DSPP, SPP1
30skin amelanotic melanoma10.3DSPP, SERPINH1
31anterior cruciate ligament tears10.2COL1A1, COL1A2
32optic neuritis10.2DSPP, SERPINH1
33osteogenesis imperfecta, type vii10.2
34osteogenesis imperfecta, type i10.2
35dicrocoeliasis10.2COL1A1, COL1A2
36autosomal dominant microcephaly10.2COL1A1, COL1A2, DSPP
37yellow fever10.2CRTAP, SERPINH1
38darier disease10.1COL1A1, COL1A2
39ankylosis10.1COL1A1, COL1A2
40osteogenesis imperfecta, type viii10.1
41bruck syndrome 210.1
42osteogenesis imperfecta, type xvii10.1
43osteogenesis imperfecta, type xiii10.1
44osteogenesis imperfecta, type xiv10.1
45osteogenesis imperfecta, type v10.1
46osteogenesis imperfecta, type xvi10.1
47osteogenesis imperfecta, type xv10.1
48osteogenesis imperfecta, type ix10.1
49osteogenesis imperfecta, type vi10.1
50osteogenesis imperfecta, type xi10.1

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
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

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Anatomical Context for Dentinogenesis Imperfecta

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MalaCards organs/tissues related to Dentinogenesis Imperfecta:

33
Bone, Lung, Breast, Heart, Prostate, Myeloid, Testes

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053827.8COL1A1, DMP1, FKBP10, IFITM5, SERPINH1
2MP:00053717.7COL1A1, COL1A2, DMP1, FKBP10, IFITM5, SERPINH1
3MP:00053857.4COL1A1, COL1A2, DMP1, FKBP10, SERPINH1, SPP1
4MP:00053787.1COL1A1, COL1A2, CRTAP, DMP1, FKBP10, SERPINH1
5MP:00053906.4COL1A1, COL1A2, CRTAP, DMP1, FKBP10, IFITM5

Publications for Dentinogenesis Imperfecta

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Articles related to Dentinogenesis Imperfecta:

(show top 50)    (show all 184)
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
Multiple teeth fractures in dentinogenesis imperfecta: a case report. (25571690)
2014
4
Diagnostic discussion. Dentinogenesis imperfecta. (23691614)
2013
5
Dentinogenesis imperfecta associated with osteogenesis imperfecta. (23162594)
2012
6
Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. (21323831)
2011
7
Commentary. Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. (21323832)
2011
8
Case report: Rehabilitation of a child with dentinogenesis imperfecta and congenitally missing lateral incisors. (20932402)
2010
9
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family. (20146806)
2010
10
Dentinogenesis imperfecta: a review and case report of a family over four generations. (19075443)
2008
11
An integrated treatment approach: a case report for dentinogenesis imperfecta type II. (18604025)
2007
12
A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family. (17686168)
2007
13
Dentinogenesis imperfecta. (17802895)
2007
14
Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II. (17026502)
2006
15
Esthetic reconstruction of teeth in patient with dentinogenesis imperfecta--a case report. (16617603)
2006
16
A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse. (16025116)
2005
17
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. (15592686)
2005
18
All-ceramic restorations for complete-mouth rehabilitation in dentinogenesis imperfecta: a case report. (12666889)
2002
19
Diagnostic features and pedodontic-orthodontic management in dentinogenesis imperfecta type II: a case report. (12199890)
2002
20
The non-collagenous dentin matrix proteins are involved in dentinogenesis imperfecta type II (DGI-II). (10765957)
2000
21
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. (9541230)
1998
22
Familial tarda type osteogenesis imperfecta with dentinogenesis imperfecta Type I. Case report. (9241928)
1997
23
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
24
Dentinogenesis imperfecta: influence of an overdenture on gingival tissues and tooth mobility. (9151619)
1996
25
Carbamide peroxide bleaching of teeth with dentinogenesis imperfecta discoloration: report of a case. (8935109)
1995
26
Presence of dentin phosphoprotein in molars of a patient with dentinogenesis imperfecta type II. (8006116)
1994
27
Hyperfibers and vesicles in dentin matrix in dentinogenesis imperfecta (DI) associated with osteogenesis imperfecta (OI). (7823299)
1994
28
Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity. (1481841)
1992
29
Restoration of a dentition affected by dentinogenesis imperfecta using In-Ceram: a case report. (1300134)
1992
30
Unusual dentinal changes in dentinogenesis imperfecta associated with osteogenesis imperfecta. A case report. (1574308)
1992
31
Dentinogenesis imperfecta: a case report. (1305296)
1992
32
Study of the fine structure of human deciduous dentin with dentinogenesis imperfecta, with special reference to the mantle dentin]. (2133941)
1990
33
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. (3150442)
1988
34
Quantitative histological analysis of the human coronal dentine in dentinogenesis imperfecta types I and II. (3530219)
1986
35
Dentinogenesis imperfecta type III with enamel and cementum defects. (2989751)
1985
36
The ultrastructure of the dental tissues in dentinogenesis imperfecta in man. (3857040)
1985
37
Calvarial doughnut lesions with osteoporosis, multiple fractures, dentinogenesis imperfecta and tumorous changes in the jaws. (Report of a case). (6517811)
1984
38
Relation of mineralization defects in collagen matrices to noncollagenous protein components. Identification of a molecular defect in dentinogenesis imperfecta. (6851336)
1983
39
Dentinogenesis imperfecta. An integrated conservative approach to treatment. (7041928)
1982
40
Removable overdentures in the oral rehabilitation of patients with dentinogenesis imperfecta. (296268)
1978
41
The management of children and adolescents suffering from amelogenesis imperfecta and dentinogenesis imperfecta. (4280388)
1974
42
Dentinogenesis imperfecta traceable through five generations of a part American Indian family. (4513064)
1973
43
The amino-acid composition of human hard tissue collagens in osteogenesis imperfecta and dentinogenesis imperfecta. (4710795)
1973
44
Dentinogenesis imperfecta. (4512282)
1973
45
Dentinogenesis imperfecta. (5173239)
1971
46
Classical and atypical dentinogenesis imperfecta in a four year old male. (4893599)
1969
47
Dentinogenesis imperfecta. (13366567)
1956
48
Hereditary dentinogenesis imperfecta (opalescent dentine). (18132147)
1949
49
Dentinogenesis imperfecta. (21012953)
1946
50

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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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:00055849.8COL1A1, COL1A2
2endoplasmic reticulumGO:00057838.8COL1A1, CRTAP, SERPINH1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1ossificationGO:000150310.1COL1A1, DSPP
2biomineral tissue developmentGO:003121410.1DMP1, SPP1
3response to steroid hormoneGO:004854510.0COL1A1, SPP1
4collagen biosynthetic processGO:00329649.9COL1A1, SERPINH1
5collagen catabolic processGO:00305749.9COL1A1, COL1A2
6cellular response to amino acid stimulusGO:00712309.8COL1A1, COL1A2
7leukocyte migrationGO:00509009.7COL1A1, COL1A2
8skin morphogenesisGO:00435899.5COL1A1, COL1A2
9extracellular matrix disassemblyGO:00226179.3COL1A1, COL1A2, SPP1

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

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:00055189.6DSPP, SERPINH1

Sources for Dentinogenesis Imperfecta

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet