MCID: DNT009
MIFTS: 37

Dentin Dysplasia malady

Categories: Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Dentin Dysplasia

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Sources:
33LifeMap Discovery®, 11Disease Ontology, 13DISEASES, 52Orphanet, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Dentin Dysplasia:

Name: Dentin Dysplasia 33 11 13 52 48 37 66
Dentinal Dysplasia 11
 
Dd 52

Characteristics:

Orphanet epidemiological data:

52
dentin dysplasia:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:701
ICD1028 K00.5
MeSH37 D003805
Orphanet52 ORPHA1653
SNOMED-CT60 109492001, 45742009
ICD10 via Orphanet29 K00.5
MESH via Orphanet38 D003805
UMLS via Orphanet67 C0011430

Summaries for Dentin Dysplasia

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Disease Ontology:11 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 abnormality of dental morphology, abnormality of dentin and increased bone mineral density. An important gene associated with Dentin Dysplasia is DSPP (Dentin Sialophosphoprotein), and among its related pathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and ECM proteoglycans. Affiliated tissues include bone, and related mouse phenotypes are craniofacial and skeleton.

Wikipedia:69 Dentin dysplasia is a genetic disorder of teeth, commonly exhibiting an autosomal dominant inheritance.... more...

Related Diseases for Dentin Dysplasia

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



Diseases related to dentin dysplasia

Symptoms for Dentin Dysplasia

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Symptoms:

 52
  • abnormality of dental enamel
  • abnormality of dental morphology
  • increased bone mineral density
  • exostoses

HPO human phenotypes related to Dentin Dysplasia:

id Description Frequency HPO Source Accession
1 abnormality of dental morphology hallmark (90%) HP:0006482
2 abnormality of dentin hallmark (90%) HP:0010299
3 increased bone mineral density hallmark (90%) HP:0011001
4 exostoses typical (50%) HP:0100777

Drugs & Therapeutics for Dentin Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Dentin Dysplasia


Cochrane evidence based reviews: dentin dysplasia

Genetic Tests for Dentin Dysplasia

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Anatomical Context for Dentin Dysplasia

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MalaCards organs/tissues related to Dentin Dysplasia:

34
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 TissueAnatomical CompartmentCell Relevance
1 ToothDentinOdontoblasts Affected by disease

Animal Models for Dentin Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Dentin Dysplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2DMP1, ENAM, PAX9, SPP1
2MP:00053907.5DMP1, ENAM, IBSP, PAX9, SPP1
3MP:00053977.2DMP1, ENAM, IBSP, PAX9, SPP1

Publications for Dentin Dysplasia

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Articles related to Dentin Dysplasia:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
A splicing mutation in VPS4B causes dentin dysplasia I. (27247351)
2016
2
Dentin Dysplasia in Notum Knockout Mice. (26926082)
2016
3
Dentin dysplasia type I - A rare entity. (26097326)
2015
4
Dentin dysplasia type I-novel findings in deciduous and permanent teeth. (26693824)
2015
5
Histological and Ultrastructure Analysis of Dentin Dysplasia Type I in Primary Teeth: A Case Report. (25855887)
2015
6
Dentin dysplasia type 1d: a rare case. (25728124)
2014
7
A Case of Dentin Dysplasia with Full Mouth Rehabilitation: A 3-year Longitudinal Study. (25356011)
2014
8
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification. (25118030)
2014
9
Orthodontic treatment of a patient with dentin dysplasia type I. (23452977)
2013
10
Typical radiographic findings of dentin dysplasia type 1b with dental fluorosis. (24367729)
2013
11
Rootless teeth: Dentin dysplasia type I. (24403801)
2013
12
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
13
Variation of dentin dysplasia type I: report of atypical findings in the permanent dentition. (21519653)
2011
14
Dentin dysplasia type I: a case report and review of the literature. (20205797)
2010
15
Dentin dysplasia: single-tooth involvement? (19417880)
2009
16
Periodontal status of patients with dentin dysplasia type I: report of three cases within a family. (18597615)
2008
17
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. (19029076)
2008
18
A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. (19026876)
2008
19
Dentin dysplasia type I: a challenge for treatment with dental implants. (17714586)
2007
20
Dentin dysplasia type I treated with onlay bone grafting, sinus augmentation, and osseointegrated implants. (16966898)
2006
21
Mandibular phenotype of p20C/EBPbeta transgenic mice: Reduced alveolar bone mass and site-specific dentin dysplasia. (16682266)
2006
22
Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. (16567553)
2006
23
Dentin dysplasia type I: report of atypical cases in the permanent and mixed dentitions. (15243476)
2004
24
Oral and maxillofacial pathology case of the month. Dentin dysplasia type I. (12592741)
2002
25
Dentin dysplasia, type II: report of 2 new families and review of the literature. (10397672)
1999
26
Case study. Dentin dysplasia. (10895705)
1999
27
Dentin dysplasia type I--a case report. (10081578)
1999
28
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. (9541230)
1998
29
Dentin dysplasia type I. Report of case and ultrastructural study. (9866969)
1998
30
Dentin dysplasia type I: five cases within one family. (9720092)
1998
31
Dentin dysplasia, type II linkage to chromosome 4q. (9493074)
1997
32
Dentin dysplasia--a case report. (9522734)
1995
33
Spectrum of dentin dysplasia in a family: case report and literature review. (7854952)
1994
34
Dentin dysplasia: review of the literature and a proposed subclassification based on radiographic findings. (1891231)
1991
35
Type I dentin dysplasia: report of two cases. (1785908)
1991
36
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. (3150442)
1988
37
Diagnostic challenge. Dentin dysplasia, type II. (3456914)
1986
38
Interradicular dentin dysplasia associated with amelogenesis imperfecta. (3862024)
1985
39
Dentin dysplasia: endodontic considerations and report of involvement of three siblings. (6590748)
1984
40
A scanning electron microscopic study of dentin dysplasia type II in primary dentition. (6589579)
1984
41
Management of dentin dysplasia and facial disharmony. (6574606)
1983
42
Dentin dysplasia type II: review of the literature and report of a family. (6580302)
1983
43
Dentin dysplasia type I: a clinical report. (6947011)
1981
44
Dentin dysplasia type I: a scanning electron microscopic analysis of the primary dentition. (6935585)
1980
45
Dentin dysplasia II. (297771)
1979
46
Focal odontoblastic dysplasia: dentin dysplasia type III? (271928)
1977
47
Dentin dysplasia, type II: a rare autosomal dominant disorder. (269353)
1977
48
Radicular (type 1) dentin dysplasia. (266155)
1977
49
Polarized light study of enamel and dentin dysplasia. (5240796)
1968
50
Dentine dysplasia associated with rheumatoid arthritis and hypervitaminosis D. (13224191)
1955

Variations for Dentin Dysplasia

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Expression for genes affiliated with Dentin Dysplasia

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Search GEO for disease gene expression data for Dentin Dysplasia.

Pathways for genes affiliated with Dentin Dysplasia

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

idSuper pathwaysScoreTop Affiliating Genes
19.5IBSP, SPP1
29.0DMP1, DSPP, IBSP
3
Show member pathways
8.5DMP1, DSPP, IBSP, SPP1

GO Terms for genes affiliated with Dentin Dysplasia

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

idNameGO IDScoreTop Affiliating Genes
1membrane-bounded vesicleGO:003198810.1IBSP, SPP1
2extracellular regionGO:00055768.5DMP1, DSPP, IBSP, SPP1
3proteinaceous extracellular matrixGO:00055788.4DMP1, DSPP, ENAM, SMOC2

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

idNameGO IDScoreTop Affiliating Genes
1cellular response to growth factor stimulusGO:00713639.7IBSP, PAX9
2osteoblast differentiationGO:00016499.6IBSP, SPP1
3ossificationGO:00015039.5DMP1, DSPP
4positive regulation of cell-substrate adhesionGO:00108119.4DMP1, SMOC2
5biomineral tissue developmentGO:00312148.0DMP1, DSPP, ENAM, SPP1
6extracellular matrix organizationGO:00301987.8DMP1, DSPP, IBSP, SMOC2, SPP1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:00508409.3DMP1, SPP1

Sources for Dentin Dysplasia

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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