MCID: DNT009
MIFTS: 39

Dentin Dysplasia

Categories: Oral diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Dentin Dysplasia

MalaCards integrated aliases for Dentin Dysplasia:

Name: Dentin Dysplasia 38 12 59 55 44 15 73
Dentinal Dysplasia 12
Dd 59

Characteristics:

Orphanet epidemiological data:

59
dentin dysplasia
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:701
ICD10 33 K00.5
MeSH 44 D003805
SNOMED-CT 68 109492001 45742009
Orphanet 59 ORPHA1653
MESH via Orphanet 45 D003805
UMLS via Orphanet 74 C0011430
ICD10 via Orphanet 34 K00.5
UMLS 73 C0011430

Summaries for Dentin Dysplasia

Disease Ontology : 12 A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology.

MalaCards based summary : Dentin Dysplasia, also known as dentinal dysplasia, is related to dentin dysplasia, type i and dentin dysplasia, type ii. An important gene associated with Dentin Dysplasia is DSPP (Dentin Sialophosphoprotein), and among its related pathways/superpathways are Degradation of the extracellular matrix and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include Tooth and bone, and related phenotypes are abnormality of dental enamel and abnormality of dental morphology

Wikipedia : 76 Dentin dysplasia (DD) is a rare genetic developmental disorder dentine production of the teeth, commonly... more...

Related Diseases for Dentin Dysplasia

Graphical network of the top 20 diseases related to Dentin Dysplasia:



Diseases related to Dentin Dysplasia

Symptoms & Phenotypes for Dentin Dysplasia

Human phenotypes related to Dentin Dysplasia:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0000682
2 abnormality of dental morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0006482
3 increased bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0011001
4 exostoses 59 32 frequent (33%) Frequent (79-30%) HP:0100777

MGI Mouse Phenotypes related to Dentin Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.63 DMP1 IBSP MSX2 SMOC2 SPP1 SSUH2
2 growth/size/body region MP:0005378 9.43 DMP1 IBSP MSX2 SMOC2 SPP1 SSUH2
3 skeleton MP:0005390 9.1 DMP1 IBSP MSX2 SMOC2 SPP1 SSUH2

Drugs & Therapeutics for Dentin Dysplasia

Search Clinical Trials , NIH Clinical Center for Dentin Dysplasia

Cochrane evidence based reviews: dentin dysplasia

Genetic Tests for Dentin Dysplasia

Anatomical Context for Dentin Dysplasia

MalaCards organs/tissues related to Dentin Dysplasia:

41
Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Dentin Dysplasia:
# Tissue Anatomical CompartmentCell Relevance
1 Tooth Dentin Odontoblasts Affected by disease

Publications for Dentin Dysplasia

Articles related to Dentin Dysplasia:

(show top 50) (show all 76)
# Title Authors Year
1
Dentin dysplasia type I-A dental disease with genetic heterogeneity. ( 29575674 )
2018
2
Dentin dysplasia type 1 - clinical management dilemmas: A case report of first-generation sufferers. ( 29970641 )
2018
3
Dentin dysplasia: diagnostic challenges. ( 29895546 )
2018
4
A rare case diagnosed as dentin dysplasia type II. ( 29940650 )
2018
5
Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I. ( 27680507 )
2017
6
Symmetric multiquadrant isolated dentin dysplasia (SMIDD), a unique presentation mimicking dentin dysplasia type 1b. ( 28215628 )
2017
7
Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia. ( 27973701 )
2016
8
A splicing mutation in VPS4B causes dentin dysplasia I. ( 27247351 )
2016
9
Hereditary dentine dysplasias: terminology in the context of osteogenesis imperfecta. ( 27932823 )
2016
10
Dentin Dysplasia in Notum Knockout Mice. ( 26926082 )
2016
11
Histological and Ultrastructure Analysis of Dentin Dysplasia Type I in Primary Teeth: A Case Report. ( 25855887 )
2015
12
Dentin dysplasia type I-novel findings in deciduous and permanent teeth. ( 26693824 )
2015
13
Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). ( 26337219 )
2015
14
Dentin dysplasia type I - A rare entity. ( 26097326 )
2015
15
Interradicular dentin dysplasia associated with amelogenesis imperfecta with taurodontism or trichodentoosseous syndrome: a diagnostic dilemma. ( 24992867 )
2014
16
A Case of Dentin Dysplasia with Full Mouth Rehabilitation: A 3-year Longitudinal Study. ( 25356011 )
2014
17
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification. ( 25118030 )
2014
18
Implant-based oral rehabilitation of a variant model of type I dentinal dysplasia: A rare case report. ( 25225567 )
2014
19
Dentin dysplasia type 1d: a rare case. ( 25728124 )
2014
20
Orthodontic treatment of a patient with dentin dysplasia type I. ( 23452977 )
2013
21
Typical radiographic findings of dentin dysplasia type 1b with dental fluorosis. ( 24367729 )
2013
22
Dentin dysplasia type I. ( 23814198 )
2013
23
Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family. ( 23712319 )
2013
24
Rootless teeth: Dentin dysplasia type I. ( 24403801 )
2013
25
Rough endoplasmic reticulum trafficking errors by different classes of mutant dentin sialophosphoprotein (DSPP) cause dominant negative effects in both dentinogenesis imperfecta and dentin dysplasia by entrapping normal DSPP. ( 22392858 )
2012
26
Variation of dentin dysplasia type I: report of atypical findings in the permanent dentition. ( 21519653 )
2011
27
Dentin dysplasia type I: a case report and review of the literature. ( 20205797 )
2010
28
Dentin dysplasia: single-tooth involvement? ( 19417880 )
2009
29
Dentin dysplasia type I with pyogenic granuloma in a 12-year-old girl. ( 19736509 )
2009
30
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. ( 19029076 )
2008
31
A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. ( 19026876 )
2008
32
Periodontal status of patients with dentin dysplasia type I: report of three cases within a family. ( 18597615 )
2008
33
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. ( 19021896 )
2008
34
Dentin dysplasia type I: a challenge for treatment with dental implants. ( 17714586 )
2007
35
General practitioner's radiology case 55. Dentin dysplasia. ( 18019125 )
2007
36
Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. ( 16567553 )
2006
37
Dentin dysplasia type I treated with onlay bone grafting, sinus augmentation, and osseointegrated implants. ( 16966898 )
2006
38
Mandibular phenotype of p20C/EBPbeta transgenic mice: Reduced alveolar bone mass and site-specific dentin dysplasia. ( 16682266 )
2006
39
Dentin dysplasia type I: report of atypical cases in the permanent and mixed dentitions. ( 15243476 )
2004
40
Oral and maxillofacial pathology case of the month. Dentin dysplasia type I. ( 12592741 )
2002
41
Dentin dysplasia. ( 11507509 )
1999
42
Case study. Dentin dysplasia. ( 10895705 )
1999
43
Dentin dysplasia, type II: report of 2 new families and review of the literature. ( 10397672 )
1999
44
Dentin dysplasia type I--a case report. ( 10081578 )
1999
45
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. ( 9541230 )
1998
46
Dentin dysplasia type I. Report of case and ultrastructural study. ( 9866969 )
1998
47
Dentin dysplasia type I: five cases within one family. ( 9720092 )
1998
48
Dentin dysplasia, type II linkage to chromosome 4q. ( 9493074 )
1997
49
Dentin dysplasia--a case report. ( 9522734 )
1995
50
Spectrum of dentin dysplasia in a family: case report and literature review. ( 7854952 )
1994

Variations for Dentin Dysplasia

Expression for Dentin Dysplasia

Search GEO for disease gene expression data for Dentin Dysplasia.

Pathways for Dentin Dysplasia

Pathways related to Dentin Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.91 DMP1 DSPP IBSP SPP1
2 10.75 IBSP SPP1
3 10.56 DMP1 DSPP IBSP

GO Terms for Dentin Dysplasia

Cellular components related to Dentin Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.02 DMP1 DSPP IBSP SMOC2 SPP1

Biological processes related to Dentin Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 osteoblast differentiation GO:0001649 9.43 IBSP MSX2 SPP1
2 cellular response to growth factor stimulus GO:0071363 9.4 IBSP MSX2
3 positive regulation of cell-substrate adhesion GO:0010811 9.37 DMP1 SMOC2
4 extracellular matrix organization GO:0030198 9.35 DMP1 DSPP IBSP SMOC2 SPP1
5 ossification GO:0001503 9.33 DMP1 DSPP MSX2
6 odontogenesis GO:0042476 9.32 MSX2 SSUH2
7 biomineral tissue development GO:0031214 8.92 DMP1 DSPP IBSP SPP1

Molecular functions related to Dentin Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.96 DMP1 IBSP
2 extracellular matrix binding GO:0050840 8.62 DMP1 SPP1

Sources for Dentin Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....