MCID: DNT009
MIFTS: 39

Dentin Dysplasia

Categories: Genetic diseases, Rare diseases, Oral diseases

Aliases & Classifications for Dentin Dysplasia

MalaCards integrated aliases for Dentin Dysplasia:

Name: Dentin Dysplasia 37 12 55 51 41 14 69
Dentinal Dysplasia 12
Dd 55

Characteristics:

Orphanet epidemiological data:

55
dentin dysplasia
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 55  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:701
ICD10 32 K00.5
MeSH 41 D003805
SNOMED-CT 64 109492001 45742009
Orphanet 55 ORPHA1653
MESH via Orphanet 42 D003805
UMLS via Orphanet 70 C0011430
ICD10 via Orphanet 33 K00.5
UMLS 69 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, and has symptoms including abnormality of dental enamel, abnormality of dental morphology and increased bone mineral density. An important gene associated with Dentin Dysplasia is DSPP (Dentin Sialophosphoprotein), and among its related pathways/superpathways are Degradation of the extracellular matrix and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include Tooth and bone, and related phenotypes are craniofacial and skeleton

Wikipedia : 72 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:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of dental enamel 55 31 hallmark (90%) Very frequent (99-80%) HP:0000682
2 abnormality of dental morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0006482
3 increased bone mineral density 55 31 hallmark (90%) Very frequent (99-80%) HP:0011001
4 exostoses 55 31 frequent (33%) Frequent (79-30%) HP:0100777

MGI Mouse Phenotypes related to Dentin Dysplasia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.35 DMP1 IBSP MSX2 SPP1 SSUH2
2 skeleton MP:0005390 9.02 DMP1 IBSP MSX2 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:

38
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 70)
# Title Authors Year
1
Symmetric multiquadrant isolated dentin dysplasia (SMIDD), a unique presentation mimicking dentin dysplasia type 1b. ( 28215628 )
2017
2
Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I. ( 27680507 )
2017
3
Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia. ( 27973701 )
2016
4
A splicing mutation in VPS4B causes dentin dysplasia I. ( 27247351 )
2016
5
Dentin Dysplasia in Notum Knockout Mice. ( 26926082 )
2016
6
Hereditary dentine dysplasias: terminology in the context of osteogenesis imperfecta. ( 27932823 )
2016
7
Dentin dysplasia type I - A rare entity. ( 26097326 )
2015
8
Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). ( 26337219 )
2015
9
Dentin dysplasia type I-novel findings in deciduous and permanent teeth. ( 26693824 )
2015
10
Histological and Ultrastructure Analysis of Dentin Dysplasia Type I in Primary Teeth: A Case Report. ( 25855887 )
2015
11
Interradicular dentin dysplasia associated with amelogenesis imperfecta with taurodontism or trichodentoosseous syndrome: a diagnostic dilemma. ( 24992867 )
2014
12
A Case of Dentin Dysplasia with Full Mouth Rehabilitation: A 3-year Longitudinal Study. ( 25356011 )
2014
13
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification. ( 25118030 )
2014
14
Dentin dysplasia type 1d: a rare case. ( 25728124 )
2014
15
Dentin dysplasia type I. ( 23814198 )
2013
16
Typical radiographic findings of dentin dysplasia type 1b with dental fluorosis. ( 24367729 )
2013
17
Rootless teeth: Dentin dysplasia type I. ( 24403801 )
2013
18
Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family. ( 23712319 )
2013
19
Orthodontic treatment of a patient with dentin dysplasia type I. ( 23452977 )
2013
20
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
21
Variation of dentin dysplasia type I: report of atypical findings in the permanent dentition. ( 21519653 )
2011
22
Dentin dysplasia type I: a case report and review of the literature. ( 20205797 )
2010
23
Dentin dysplasia type I with pyogenic granuloma in a 12-year-old girl. ( 19736509 )
2009
24
Dentin dysplasia: single-tooth involvement? ( 19417880 )
2009
25
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. ( 19021896 )
2008
26
A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. ( 19026876 )
2008
27
Periodontal status of patients with dentin dysplasia type I: report of three cases within a family. ( 18597615 )
2008
28
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. ( 19029076 )
2008
29
General practitioner's radiology case 55. Dentin dysplasia. ( 18019125 )
2007
30
Dentin dysplasia type I: a challenge for treatment with dental implants. ( 17714586 )
2007
31
Mandibular phenotype of p20C/EBPbeta transgenic mice: Reduced alveolar bone mass and site-specific dentin dysplasia. ( 16682266 )
2006
32
Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. ( 16567553 )
2006
33
Dentin dysplasia type I treated with onlay bone grafting, sinus augmentation, and osseointegrated implants. ( 16966898 )
2006
34
Dentin dysplasia type I: report of atypical cases in the permanent and mixed dentitions. ( 15243476 )
2004
35
Oral and maxillofacial pathology case of the month. Dentin dysplasia type I. ( 12592741 )
2002
36
Dentin dysplasia type I--a case report. ( 10081578 )
1999
37
Dentin dysplasia. ( 11507509 )
1999
38
Case study. Dentin dysplasia. ( 10895705 )
1999
39
Dentin dysplasia, type II: report of 2 new families and review of the literature. ( 10397672 )
1999
40
Dentin dysplasia type I: five cases within one family. ( 9720092 )
1998
41
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. ( 9541230 )
1998
42
Dentin dysplasia type I. Report of case and ultrastructural study. ( 9866969 )
1998
43
Dentin dysplasia, type II linkage to chromosome 4q. ( 9493074 )
1997
44
Dentin dysplasia--a case report. ( 9522734 )
1995
45
Spectrum of dentin dysplasia in a family: case report and literature review. ( 7854952 )
1994
46
Dentin dysplasia type I. Radiologic and genetic perspectives in a six-generation family. ( 7970601 )
1994
47
Transmission electron microscopic appearance of dentin matrix in type II dentin dysplasia. ( 1754835 )
1991
48
Dentin dysplasia: review of the literature and a proposed subclassification based on radiographic findings. ( 1891231 )
1991
49
Type I dentin dysplasia: report of two cases. ( 1785908 )
1991
50
Dentin dysplasia type II: absence of type III collagen in dentin. ( 2195160 )
1990

Variations for Dentin Dysplasia

Expression for Dentin Dysplasia

Search GEO for disease gene expression data for Dentin Dysplasia.

Pathways for Dentin Dysplasia

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 9.35 DMP1 DSPP IBSP SMOC2 SPP1
2 proteinaceous extracellular matrix GO:0005578 8.8 DMP1 DSPP SMOC2

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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