MCID: DNT009
MIFTS: 37

Dentin Dysplasia malady

Categories: Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Dentin Dysplasia

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Sources:
11Disease Ontology, 13DISEASES, 29ICD10, 30ICD10 via Orphanet, 34LifeMap Discovery®, 38MeSH, 39MESH via Orphanet, 49Novoseek, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Dentin Dysplasia:

Name: Dentin Dysplasia 34 11 53 49 38 13 67
Dentinal Dysplasia 11
 
Dd 53

Characteristics:

Orphanet epidemiological data:

53
dentin dysplasia:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:701
ICD1029 K00.5
MeSH38 D003805
Orphanet53 ORPHA1653
SNOMED-CT61 109492001, 45742009
MESH via Orphanet39 D003805
UMLS via Orphanet68 C0011430
ICD10 via Orphanet30 K00.5

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 Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Wikipedia:70 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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Human phenotypes related to Dentin Dysplasia:

 63 53
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of dental morphology63 53 hallmark (90%) Very frequent (99-80%) HP:0006482
2 abnormality of dentin63 hallmark (90%) HP:0010299
3 increased bone mineral density63 53 hallmark (90%) Very frequent (99-80%) HP:0011001
4 exostoses63 53 typical (50%) Frequent (79-30%) HP:0100777
5 abnormality of dental enamel53 Very frequent (99-80%)

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:

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.8DMP1, IBSP, MSX2, PAX9
2MP:00053828.4DMP1, ENAM, MSX2, PAX9, SPP1
3MP:00053788.0DMP1, ENAM, IBSP, MSX2, PAX9, SPP1
4MP:00053977.9DMP1, ENAM, IBSP, MSX2, PAX9, SPP1
5MP:00053907.2DMP1, ENAM, IBSP, MSX2, PAX9, SPP1

Publications for Dentin Dysplasia

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Articles related to Dentin Dysplasia:

(show top 50)    (show all 70)
idTitleAuthorsYear
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
Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia. (27973701)
2016
4
Hereditary dentine dysplasias: terminology in the context of osteogenesis imperfecta. (27932823)
2016
5
Dentin Dysplasia in Notum Knockout Mice. (26926082)
2016
6
Dentin dysplasia type I - A rare entity. (26097326)
2015
7
Dentin dysplasia type I-novel findings in deciduous and permanent teeth. (26693824)
2015
8
Histological and Ultrastructure Analysis of Dentin Dysplasia Type I in Primary Teeth: A Case Report. (25855887)
2015
9
Dentin dysplasia type 1d: a rare case. (25728124)
2014
10
A Case of Dentin Dysplasia with Full Mouth Rehabilitation: A 3-year Longitudinal Study. (25356011)
2014
11
Orthodontic treatment of a patient with dentin dysplasia type I. (23452977)
2013
12
Typical radiographic findings of dentin dysplasia type 1b with dental fluorosis. (24367729)
2013
13
Rootless teeth: Dentin dysplasia type I. (24403801)
2013
14
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
15
Variation of dentin dysplasia type I: report of atypical findings in the permanent dentition. (21519653)
2011
16
Dentin dysplasia type I: a case report and review of the literature. (20205797)
2010
17
Dentin dysplasia: single-tooth involvement? (19417880)
2009
18
Periodontal status of patients with dentin dysplasia type I: report of three cases within a family. (18597615)
2008
19
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. (19029076)
2008
20
A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. (19026876)
2008
21
Dentin dysplasia type I: a challenge for treatment with dental implants. (17714586)
2007
22
Dentin dysplasia type I treated with onlay bone grafting, sinus augmentation, and osseointegrated implants. (16966898)
2006
23
Mandibular phenotype of p20C/EBPbeta transgenic mice: Reduced alveolar bone mass and site-specific dentin dysplasia. (16682266)
2006
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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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
1proteinaceous extracellular matrixGO:00055788.6DMP1, DSPP, ENAM, SMOC2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell-substrate adhesionGO:00108119.6DMP1, SMOC2
2odontogenesisGO:00424769.6MSX2, PAX9
3ossificationGO:00015039.0DMP1, DSPP, MSX2
4cellular response to growth factor stimulusGO:00713638.9IBSP, MSX2, PAX9
5osteoblast differentiationGO:00016498.8IBSP, MSX2, SPP1
6biomineral tissue developmentGO:00312148.8DMP1, DSPP, ENAM, SPP1
7extracellular matrix organizationGO:00301988.3DMP1, DSPP, IBSP, SMOC2, SPP1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:00508409.5DMP1, SPP1

Sources for Dentin Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet