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, 30ICD10, 31ICD10 via Orphanet, 35LifeMap Discovery®, 39MeSH, 40MESH via Orphanet, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Dentin Dysplasia:

Name: Dentin Dysplasia 35 11 54 50 39 13 68
Dentinal Dysplasia 11
 
Dd 54

Characteristics:

Orphanet epidemiological data:

54
dentin dysplasia:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:701
ICD1030 K00.5
MeSH39 D003805
Orphanet54 ORPHA1653
SNOMED-CT62 109492001, 45742009
MESH via Orphanet40 D003805
UMLS via Orphanet69 C0011430
ICD10 via Orphanet31 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:71 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 & Phenotypes for Dentin Dysplasia

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Human phenotypes related to Dentin Dysplasia:

 64 54
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of dental morphology64 54 hallmark (90%) Very frequent (99-80%) HP:0006482
2 abnormality of dentin64 hallmark (90%) HP:0010299
3 increased bone mineral density64 54 hallmark (90%) Very frequent (99-80%) HP:0011001
4 exostoses64 54 typical (50%) Frequent (79-30%) HP:0100777
5 abnormality of dental enamel54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Dentin Dysplasia according to GeneCards Suite gene sharing:

41
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

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:

36
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

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
Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). (26337219)
2015
10
Dentin dysplasia type 1d: a rare case. (25728124)
2014
11
A Case of Dentin Dysplasia with Full Mouth Rehabilitation: A 3-year Longitudinal Study. (25356011)
2014
12
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification. (25118030)
2014
13
Interradicular dentin dysplasia associated with amelogenesis imperfecta with taurodontism or trichodentoosseous syndrome: a diagnostic dilemma. (24992867)
2014
14
Orthodontic treatment of a patient with dentin dysplasia type I. (23452977)
2013
15
Typical radiographic findings of dentin dysplasia type 1b with dental fluorosis. (24367729)
2013
16
Rootless teeth: Dentin dysplasia type I. (24403801)
2013
17
Dentin dysplasia type I. (23814198)
2013
18
Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family. (23712319)
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: single-tooth involvement? (19417880)
2009
23
Dentin dysplasia type I with pyogenic granuloma in a 12-year-old girl. (19736509)
2009
24
Periodontal status of patients with dentin dysplasia type I: report of three cases within a family. (18597615)
2008
25
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. (19029076)
2008
26
A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. (19026876)
2008
27
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. (19021896)
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
Dentin dysplasia type I treated with onlay bone grafting, sinus augmentation, and osseointegrated implants. (16966898)
2006
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: 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
Case study. Dentin dysplasia. (10895705)
1999
37
Dentin dysplasia type I--a case report. (10081578)
1999
38
Dentin dysplasia. (11507509)
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
Spectrum of dentin dysplasia in a family: case report and literature review. (7854952)
1994
45
Dentin dysplasia type I. Radiologic and genetic perspectives in a six-generation family. (7970601)
1994
46
Dentin dysplasia: review of the literature and a proposed subclassification based on radiographic findings. (1891231)
1991
47
Type I dentin dysplasia: report of two cases. (1785908)
1991
48
Transmission electron microscopic appearance of dentin matrix in type II dentin dysplasia. (1754835)
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

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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
1odontogenesisGO:00424769.7MSX2, PAX9
2osteoblast differentiationGO:00016499.5IBSP, MSX2, SPP1
3ossificationGO:00015039.5DMP1, DSPP, MSX2
4positive regulation of cell-substrate adhesionGO:00108119.4DMP1, SMOC2
5cellular response to growth factor stimulusGO:00713639.3IBSP, MSX2, PAX9
6biomineral tissue developmentGO:00312149.3DMP1, DSPP, ENAM, SPP1
7extracellular matrix organizationGO:00301988.9DMP1, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet