DD
MCID: DNT009
MIFTS: 38

Dentin Dysplasia (DD) malady

Categories: Oral diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Dentin Dysplasia

Aliases & Descriptions for Dentin Dysplasia:

Name: Dentin Dysplasia 38 12 56 52 42 14 69
Dentinal Dysplasia 12
Dd 56

Characteristics:

Orphanet epidemiological data:

56
dentin dysplasia
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:701
ICD10 33 K00.5
MeSH 42 D003805
SNOMED-CT 64 109492001 45742009
Orphanet 56 ORPHA1653
MESH via Orphanet 43 D003805
UMLS via Orphanet 70 C0011430
ICD10 via Orphanet 34 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 ii and dentin dysplasia, type i, with microdontia and misshapen teeth, and has symptoms including exostoses, abnormality of dental enamel and abnormality of dental morphology. 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 growth/size/body region and craniofacial

Wikipedia : 71 Dentin dysplasia is a genetic disorder of teeth, commonly exhibiting an autosomal dominant inheritance.... more...

Related Diseases for Dentin Dysplasia

Diseases in the Dentin Dysplasia family:

Dentin Dysplasia, Type Ii

Diseases related to Dentin Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
id Related Disease Score Top Affiliating Genes
1 dentin dysplasia, type ii 12.4
2 dentin dysplasia, type i, with microdontia and misshapen teeth 12.4
3 dentin dysplasia with sclerotic bones 12.0
4 denys-drash syndrome 11.7
5 dentinogenesis imperfecta 11.4
6 diastrophic dysplasia 10.9
7 mohr-tranebjaerg syndrome 10.9
8 hip dysplasia, beukes type 10.2 DMP1 DSPP
9 hypophosphatasia, childhood 10.1 DSPP SPP1
10 acute frontal sinusitis 10.1 DSPP SPP1
11 spinocerebellar ataxia 17 10.1 DSPP SMOC2
12 x-linked hereditary ataxia 10.1 DMP1 IBSP
13 glossitis 10.1 DSPP SPP1
14 reticular perineurioma 10.1 DSPP ENAM
15 corneal staphyloma 10.1 DSPP ENAM
16 opportunistic bacterial infectious disease 10.1 DMP1 DSPP
17 ovarian malignant mesothelioma 10.1 DSPP ENAM
18 arterial calcification, generalized, of infancy, 2 10.0 IBSP SPP1
19 vaginitis 10.0 DSPP ENAM
20 adenosquamous breast carcinoma 10.0 DSPP ENAM SPP1
21 amelogenesis imperfecta 9.9
22 robinow-sorauf syndrome 9.9 IBSP MSX2
23 ceroid lipofuscinosis, neuronal, kufs type, adult onset 9.9 IBSP SPP1
24 adermatoglyphia 9.9 DMP1 DSPP IBSP SPP1
25 diabetic neuropathy 9.9 DMP1 DSPP IBSP SPP1
26 fungal gastritis 9.8 DSPP ENAM PAX9
27 dental fluorosis 9.7
28 calcinosis 9.7
29 periodontitis 9.7
30 hypervitaminosis d 9.7
31 rheumatoid arthritis 9.7
32 familial tumoral calcinosis 9.7
33 pyogenic granuloma 9.7
34 taurodontism 9.7
35 arthritis 9.7
36 osteogenesis imperfecta 9.7
37 diabetic foot ulcers 8.9 DMP1 DSPP ENAM IBSP MSX2 PAX9

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:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 exostoses 56 32 Frequent (79-30%) HP:0100777
2 abnormality of dental enamel 56 32 Very frequent (99-80%) HP:0000682
3 abnormality of dental morphology 56 32 Very frequent (99-80%) HP:0006482
4 increased bone mineral density 56 32 Very frequent (99-80%) HP:0011001

MGI Mouse Phenotypes related to Dentin Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.73 DMP1 ENAM IBSP MSX2 PAX9 SPP1
2 craniofacial MP:0005382 9.72 DMP1 ENAM MSX2 PAX9 SPP1
3 hematopoietic system MP:0005397 9.63 DMP1 ENAM IBSP MSX2 PAX9 SPP1
4 limbs/digits/tail MP:0005371 9.26 DMP1 IBSP MSX2 PAX9
5 skeleton MP:0005390 9.1 IBSP MSX2 PAX9 SPP1 DMP1 ENAM

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:

39
Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Dentin Dysplasia:
id 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)
id Title Authors Year
1
Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I. ( 27680507 )
2017
2
A splicing mutation in VPS4B causes dentin dysplasia I. ( 27247351 )
2016
3
Hereditary dentine dysplasias: terminology in the context of osteogenesis imperfecta. ( 27932823 )
2016
4
Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia. ( 27973701 )
2016
5
Dentin Dysplasia in Notum Knockout Mice. ( 26926082 )
2016
6
Histological and Ultrastructure Analysis of Dentin Dysplasia Type I in Primary Teeth: A Case Report. ( 25855887 )
2015
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
A Case of Dentin Dysplasia with Full Mouth Rehabilitation: A 3-year Longitudinal Study. ( 25356011 )
2014
11
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification. ( 25118030 )
2014
12
Dentin dysplasia type 1d: a rare case. ( 25728124 )
2014
13
Interradicular dentin dysplasia associated with amelogenesis imperfecta with taurodontism or trichodentoosseous syndrome: a diagnostic dilemma. ( 24992867 )
2014
14
Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family. ( 23712319 )
2013
15
Orthodontic treatment of a patient with dentin dysplasia type I. ( 23452977 )
2013
16
Dentin dysplasia type I. ( 23814198 )
2013
17
Rootless teeth: Dentin dysplasia type I. ( 24403801 )
2013
18
Typical radiographic findings of dentin dysplasia type 1b with dental fluorosis. ( 24367729 )
2013
19
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
20
Variation of dentin dysplasia type I: report of atypical findings in the permanent dentition. ( 21519653 )
2011
21
Dentin dysplasia type I: a case report and review of the literature. ( 20205797 )
2010
22
Dentin dysplasia type I with pyogenic granuloma in a 12-year-old girl. ( 19736509 )
2009
23
Dentin dysplasia: single-tooth involvement? ( 19417880 )
2009
24
A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. ( 19026876 )
2008
25
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. ( 19021896 )
2008
26
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. ( 19029076 )
2008
27
Periodontal status of patients with dentin dysplasia type I: report of three cases within a family. ( 18597615 )
2008
28
Dentin dysplasia type I: a challenge for treatment with dental implants. ( 17714586 )
2007
29
General practitioner's radiology case 55. Dentin dysplasia. ( 18019125 )
2007
30
Mandibular phenotype of p20C/EBPbeta transgenic mice: Reduced alveolar bone mass and site-specific dentin dysplasia. ( 16682266 )
2006
31
Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. ( 16567553 )
2006
32
Dentin dysplasia type I treated with onlay bone grafting, sinus augmentation, and osseointegrated implants. ( 16966898 )
2006
33
Dentin dysplasia type I: report of atypical cases in the permanent and mixed dentitions. ( 15243476 )
2004
34
Oral and maxillofacial pathology case of the month. Dentin dysplasia type I. ( 12592741 )
2002
35
Dentin dysplasia, type II: report of 2 new families and review of the literature. ( 10397672 )
1999
36
Dentin dysplasia. ( 11507509 )
1999
37
Case study. Dentin dysplasia. ( 10895705 )
1999
38
Dentin dysplasia type I--a case report. ( 10081578 )
1999
39
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. ( 9541230 )
1998
40
Dentin dysplasia type I. Report of case and ultrastructural study. ( 9866969 )
1998
41
Dentin dysplasia type I: five cases within one family. ( 9720092 )
1998
42
Dentin dysplasia, type II linkage to chromosome 4q. ( 9493074 )
1997
43
Dentin dysplasia--a case report. ( 9522734 )
1995
44
Dentin dysplasia type I. Radiologic and genetic perspectives in a six-generation family. ( 7970601 )
1994
45
Spectrum of dentin dysplasia in a family: case report and literature review. ( 7854952 )
1994
46
Type I dentin dysplasia: report of two cases. ( 1785908 )
1991
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
Dentin dysplasia type II: absence of type III collagen in dentin. ( 2195160 )
1990
50
Dentin dysplasia type II: report of case. ( 2760319 )
1989

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:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 DMP1 DSPP ENAM IBSP SMOC2 SPP1
2 endoplasmic reticulum lumen GO:0005788 9.33 DMP1 ENAM SPP1
3 proteinaceous extracellular matrix GO:0005578 8.92 DMP1 DSPP ENAM SMOC2

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

id Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.63 DMP1 ENAM SPP1
2 cellular protein metabolic process GO:0044267 9.54 DMP1 ENAM SPP1
3 osteoblast differentiation GO:0001649 9.5 IBSP MSX2 SPP1
4 positive regulation of cell-substrate adhesion GO:0010811 9.43 DMP1 SMOC2
5 ossification GO:0001503 9.43 DMP1 DSPP MSX2
6 odontogenesis GO:0042476 9.4 MSX2 PAX9
7 extracellular matrix organization GO:0030198 9.35 DMP1 DSPP IBSP SMOC2 SPP1
8 cellular response to growth factor stimulus GO:0071363 9.33 IBSP MSX2 PAX9
9 biomineral tissue development GO:0031214 9.02 DMP1 DSPP ENAM IBSP SPP1

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

id Name GO ID Score Top Affiliating Genes
1 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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