MCID: DNT009
MIFTS: 46

Dentin Dysplasia malady

Genetic diseases, Oral diseases, Rare diseases categories
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Summaries for Dentin Dysplasia

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Wikipedia:65 Dentin dysplasia is a genetic disorder of teeth, commonly exhibiting an autosomal dominant inheritance.... more...

MalaCards based summary: Dentin Dysplasia, also known as dentinal dysplasia, is related to dentinogenesis imperfecta 1 and dental fluorosis, and has symptoms including 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 alizarin have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and immune system.

Description from OMIM:46 125420

Aliases & Classifications for Dentin Dysplasia

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Dentin Dysplasia, Aliases & Descriptions:

Name: Dentin Dysplasia 30 8 10 44 62
 
Dentinal Dysplasia 8 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:701
OMIM46 125420
SNOMED-CT57 45742009, 109492001
MeSH34 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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Clinical features from OMIM:

125420

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:

32
Bone

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

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:

36
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 60)
idTitleAuthorsYear
1
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification. (25118030)
2014
2
Interradicular dentin dysplasia associated with amelogenesis imperfecta with taurodontism or trichodentoosseous syndrome: a diagnostic dilemma. (24992867)
2014
3
Rootless teeth: Dentin dysplasia type I. (24403801)
2013
4
Dentin dysplasia type I. (23814198)
2013
5
Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family. (23712319)
2013
6
Orthodontic treatment of a patient with dentin dysplasia type I. (23452977)
2013
7
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
8
Variation of dentin dysplasia type I: report of atypical findings in the permanent dentition. (21519653)
2011
9
Dentin dysplasia type I: a case report and review of the literature. (20205797)
2010
10
Dentin dysplasia: single-tooth involvement? (19417880)
2009
11
Dentin dysplasia type I with pyogenic granuloma in a 12-year-old girl. (19736509)
2009
12
Periodontal status of patients with dentin dysplasia type I: report of three cases within a family. (18597615)
2008
13
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. (19029076)
2008
14
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. (19021896)
2008
15
Dentin dysplasia type I: a challenge for treatment with dental implants. (17714586)
2007
16
General practitioner's radiology case 55. Dentin dysplasia. (18019125)
2007
17
Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. (16567553)
2006
18
Dentin dysplasia type I: report of atypical cases in the permanent and mixed dentitions. (15243476)
2004
19
Oral and maxillofacial pathology case of the month. Dentin dysplasia type I. (12592741)
2002
20
Dentin dysplasia, type II: report of 2 new families and review of the literature. (10397672)
1999
21
Case study. Dentin dysplasia. (10895705)
1999
22
Dentin dysplasia type I--a case report. (10081578)
1999
23
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. (9541230)
1998
24
Dentin dysplasia type I. Report of case and ultrastructural study. (9866969)
1998
25
Dentin dysplasia type I: five cases within one family. (9720092)
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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Expression patterns in normal tissues for genes affiliated with Dentin Dysplasia

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/GeneDecks:

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/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1fibroin4410.1IBSP, SPP1
2alizarin4410.1IBSP, SPP1
3grgds4410.1IBSP, SPP1
4calcium oxalate4410.1SPP1, IBSP
5grgdsp4410.0IBSP, SPP1
6chitosan4410.0IBSP, SPP1
7methylmethacrylate449.9SPP1, IBSP, DSPP
8miltefosine449.9IBSP, DMP1, SPP1
9titanium449.9IBSP, SPP1
10tripeptide449.9IBSP, SPP1
11fluoride449.6SPP1, DSPP, MMP20
12vitamin d449.6SPP1, DMP1, IBSP, DSPP
13matrigel449.5SPP1, DMP1, IBSP
14hydroxyapatite449.3ENAM, DSPP, IBSP, DMP1, SPP1
15ascorbic acid44 2410.3DSPP, IBSP, SPP1
16calcitriol44 61 24 1112.2SPP1, DSPP, MEPE
17calcium44 50 24 1111.3SPP1, DMP1, IBSP, DSPP, MMP20, MSX2

GO Terms for genes affiliated with Dentin Dysplasia

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Cellular components related to Dentin Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.7SPP1, DMP1, IBSP, DSPP, MMP20
2proteinaceous extracellular matrixGO:0055787.4DMP1, AMBN, DSPP, MMP20, MEPE, ENAM

Biological processes related to Dentin Dysplasia according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1activation of meiosisGO:09042710.0MSX1, MSX2
2BMP signaling pathway involved in heart developmentGO:06131210.0MSX1, MSX2
3embryonic nail plate morphogenesisGO:03588010.0MSX1, MSX2
4positive regulation of mesenchymal cell apoptotic processGO:200105510.0MSX2, MSX1
5positive regulation of cell-substrate adhesionGO:01081110.0SPP1, DMP1, SMOC2
6epithelial to mesenchymal transition involved in endocardial cushion formationGO:0031989.9MSX1, MSX2
7negative regulation of transcription regulatory region DNA bindingGO:20006789.9MSX2, MSX1
8signal transduction involved in regulation of gene expressionGO:0230199.9MSX2, MSX1
9positive regulation of BMP signaling pathwayGO:0305139.9MSX1, MSX2
10ossificationGO:0015039.8DSPP, IBSP, DMP1
11embryonic hindlimb morphogenesisGO:0351169.8MSX2, MSX1
12amelogenesisGO:0971869.8ENAM, MMP20
13regulation of odontogenesisGO:0424819.8PAX9, MSX1
14embryonic forelimb morphogenesisGO:0351159.7MSX1, MSX2
15osteoblast differentiationGO:0016499.6MSX2, SPP1
16cellular response to growth factor stimulusGO:0713639.6MSX2, PAX9, IBSP
17digestionGO:0075869.6MEP1A, MEP1B
18face morphogenesisGO:0603259.6MSX1, PAX9
19odontogenesis of dentin-containing toothGO:0424759.5MSX1, AMBN
20extracellular matrix organizationGO:0301988.8SPP1, DMP1, IBSP, SMOC2, DSPP, MMP20
21biomineral tissue developmentGO:0312148.0ENAM, SPP1, DMP1, IBSP, AMBN, DSPP

Molecular functions related to Dentin Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:0508409.8SPP1, DMP1
2RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activityGO:0009829.8MSX2, MSX1
3extracellular matrix structural constituentGO:0052019.4MEPE, DSPP
4metalloendopeptidase activityGO:0042229.1MEP1A, MEP1B, MMP20
5calcium ion bindingGO:0055098.8MMP20, 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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet