MCID: DNT009
MIFTS: 42

Dentin Dysplasia malady

Genetic diseases, Rare diseases, Oral diseases categories

Summaries for Dentin Dysplasia

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Disease Ontology:9 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 dentinogenesis imperfecta, shields type ii and dental fluorosis, 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. The compounds fibroin and grgds have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and immune system.

Wikipedia:63 Dentin dysplasia is a genetic disorder of teeth, commonly exhibiting an autosomal dominant inheritance.... more...

Aliases & Classifications for Dentin Dysplasia

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Dentin Dysplasia, Aliases & Descriptions:

Name: Dentin Dysplasia 30 9 11 43 60
 
Dentinal Dysplasia 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Oral diseases


External Ids:

Disease Ontology9 DOID:701
ICD9CM27 520.5
SNOMED-CT55 109492001, 45742009
MeSH33 D003805

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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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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Drug clinical trials:

Search ClinicalTrials for Dentin Dysplasia

Search NIH Clinical Center for 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:

31
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 ToothDental PulpOdontoblasts Affected by disease

Animal Models for Dentin Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Dentin Dysplasia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.3DMP1, IBSP, PAX9, MSX1, MSX2
2MP:00053877.8MEP1A, MEP1B, MEPE, MSX2, PAX9, SPP1
3MP:00053827.2ENAM, DMP1, AMBN, PAX9, DSPP, MMP20
4MP:00053906.9SPP1, DMP1, IBSP, AMBN, PAX9, MSX1

Publications for Dentin Dysplasia

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Articles related to Dentin Dysplasia:

(show top 50)    (show all 62)
idTitleAuthorsYear
1
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification. (25118030)
2014
2
Dentin dysplasia type 1d: a rare case. (25728124)
2014
3
Interradicular dentin dysplasia associated with amelogenesis imperfecta with taurodontism or trichodentoosseous syndrome: a diagnostic dilemma. (24992867)
2014
4
Rootless teeth: Dentin dysplasia type I. (24403801)
2013
5
Dentin dysplasia type I. (23814198)
2013
6
Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family. (23712319)
2013
7
Orthodontic treatment of a patient with dentin dysplasia type I. (23452977)
2013
8
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
9
Variation of dentin dysplasia type I: report of atypical findings in the permanent dentition. (21519653)
2011
10
Dentin dysplasia type I: a case report and review of the literature. (20205797)
2010
11
Dentin dysplasia: single-tooth involvement? (19417880)
2009
12
Dentin dysplasia type I with pyogenic granuloma in a 12-year-old girl. (19736509)
2009
13
Periodontal status of patients with dentin dysplasia type I: report of three cases within a family. (18597615)
2008
14
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. (19029076)
2008
15
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. (19021896)
2008
16
Dentin dysplasia type I: a challenge for treatment with dental implants. (17714586)
2007
17
General practitioner's radiology case 55. Dentin dysplasia. (18019125)
2007
18
Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. (16567553)
2006
19
Dentin dysplasia type I: report of atypical cases in the permanent and mixed dentitions. (15243476)
2004
20
Oral and maxillofacial pathology case of the month. Dentin dysplasia type I. (12592741)
2002
21
Dentin dysplasia, type II: report of 2 new families and review of the literature. (10397672)
1999
22
Case study. Dentin dysplasia. (10895705)
1999
23
Dentin dysplasia type I--a case report. (10081578)
1999
24
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. (9541230)
1998
25
Dentin dysplasia type I. Report of case and ultrastructural study. (9866969)
1998
26
Dentin dysplasia, type II linkage to chromosome 4q. (9493074)
1997
27
Dentin dysplasia--a case report. (9522734)
1995
28
Dentin dysplasia type I. Radiologic and genetic perspectives in a six-generation family. (7970601)
1994
29
Spectrum of dentin dysplasia in a family: case report and literature review. (7854952)
1994
30
Transmission electron microscopic appearance of dentin matrix in type II dentin dysplasia. (1754835)
1991
31
Dentin dysplasia: review of the literature and a proposed subclassification based on radiographic findings. (1891231)
1991
32
Type I dentin dysplasia: report of two cases. (1785908)
1991
33
Dentin dysplasia type II: absence of type III collagen in dentin. (2195160)
1990
34
Dentin dysplasia type II: report of case. (2760319)
1989
35
Clinical, radiographic, and histological manifestations of dentin dysplasia, type I: Report of case. (2592698)
1989
36
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. (3150442)
1988
37
A scanning electron microscopic study of dentin dysplasia type II in primary dentition. (6589579)
1984
38
Dentin dysplasia: endodontic considerations and report of involvement of three siblings. (6590748)
1984
39
Management of dentin dysplasia and facial disharmony. (6574606)
1983
40
Interrupted root development--a new form of dentin dysplasia. (6603951)
1983
41
Dentin dysplasia type I: a clinical report. (6947011)
1981
42
Dentin dysplasia type I: a scanning electron microscopic analysis of the primary dentition. (6935585)
1980
43
Dentin dysplasia II. (297771)
1979
44
Radiographic manifestations of an unusual combination Types I and Type II dentin dysplasia. (272613)
1978
45
Focal odontoblastic dysplasia: dentin dysplasia type III? (271928)
1977
46
Dentin dysplasia, type II: a rare autosomal dominant disorder. (269353)
1977
47
Dentin dysplasia type I. Clinical, morphologic, and genetic studies of a case. (1063351)
1976
48
Dentin dysplasia, type II, or dentin dysplasia, coronal type. (4531620)
1974
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 pathways (with members indented)ScoreTop Affiliating Genes
19.9IBSP, SPP1
29.6DMP1, IBSP, DSPP
3
Show member pathways
8.7MMP20, DSPP, IBSP, DMP1, SPP1

Compounds for genes affiliated with Dentin Dysplasia

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

(show all 17)
idCompoundScoreTop Affiliating Genes
1fibroin4310.1IBSP, SPP1
2grgds4310.1IBSP, SPP1
3alizarin4310.1SPP1, IBSP
4calcium oxalate4310.1SPP1, IBSP
5grgdsp4310.0SPP1, IBSP
6chitosan4310.0IBSP, SPP1
7methylmethacrylate439.9DSPP, IBSP, SPP1
8miltefosine439.9SPP1, IBSP, DMP1
9titanium439.9IBSP, SPP1
10tripeptide439.9IBSP, SPP1
11fluoride439.6MMP20, DSPP, SPP1
12vitamin d439.6SPP1, DMP1, IBSP, DSPP
13matrigel439.5SPP1, DMP1, IBSP
14hydroxyapatite439.3SPP1, DMP1, IBSP, DSPP, ENAM
15ascorbic acid43 2410.3DSPP, IBSP, SPP1
16calcitriol43 59 24 1212.2SPP1, MEPE, DSPP
17calcium43 49 24 1211.3DMP1, SPP1, IBSP, MMP20, MSX2, ENAM

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
1extracellular regionGO:00055768.7MMP20, DSPP, IBSP, DMP1, SPP1
2proteinaceous extracellular matrixGO:00055787.4ENAM, DMP1, AMBN, DSPP, MMP20, MEPE

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1activation of meiosisGO:009042710.0MSX1, MSX2
2BMP signaling pathway involved in heart developmentGO:006131210.0MSX1, MSX2
3embryonic nail plate morphogenesisGO:003588010.0MSX1, MSX2
4positive regulation of mesenchymal cell apoptotic processGO:0200105510.0MSX2, MSX1
5positive regulation of cell-substrate adhesionGO:001081110.0SPP1, DMP1, SMOC2
6epithelial to mesenchymal transition involved in endocardial cushion formationGO:00031989.9MSX1, MSX2
7negative regulation of transcription regulatory region DNA bindingGO:020006789.9MSX2, MSX1
8signal transduction involved in regulation of gene expressionGO:00230199.9MSX2, MSX1
9positive regulation of BMP signaling pathwayGO:00305139.9MSX1, MSX2
10ossificationGO:00015039.8DSPP, IBSP, DMP1
11embryonic hindlimb morphogenesisGO:00351169.8MSX2, MSX1
12amelogenesisGO:00971869.8ENAM, MMP20
13regulation of odontogenesisGO:00424819.8PAX9, MSX1
14embryonic forelimb morphogenesisGO:00351159.7MSX1, MSX2
15osteoblast differentiationGO:00016499.6MSX2, SPP1
16cellular response to growth factor stimulusGO:00713639.6MSX2, PAX9, IBSP
17digestionGO:00075869.6MEP1A, MEP1B
18face morphogenesisGO:00603259.6MSX1, PAX9
19odontogenesis of dentin-containing toothGO:00424759.5MSX1, AMBN
20extracellular matrix organizationGO:00301988.8SPP1, DMP1, IBSP, SMOC2, DSPP, MMP20
21biomineral tissue developmentGO:00312148.0ENAM, SPP1, DMP1, IBSP, AMBN, DSPP

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:00508409.8SPP1, DMP1
2RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activityGO:00009829.8MSX2, MSX1
3extracellular matrix structural constituentGO:00052019.4MEPE, DSPP
4metalloendopeptidase activityGO:00042229.1MEP1A, MEP1B, MMP20
5calcium ion bindingGO:00055098.8MMP20, DSPP, SMOC2, DMP1

Products for genes affiliated with Dentin Dysplasia

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Sources for Dentin Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet