DD
MCID: DNT009
MIFTS: 49

Dentin Dysplasia (DD) malady

Summaries for Dentin Dysplasia

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Dentin dysplasia is a genetic disorder of teeth, commonly exhibiting an autosomal dominant inheritance.... more...

MalaCards: Dentin Dysplasia, also known as dentinal dysplasia, is related to dentinogenesis imperfecta and amelogenesis imperfecta, and has symptoms including tooth shape anomaly, dentine anomaly and osteosclerosis/osteopetrosis/bone condensation. An important gene associated with Dentin Dysplasia is DSPP (dentin sialophosphoprotein), and among its related pathways are Osteoblast Signaling and Crosslinking of collagen fibrils. The compounds fibroin and alizarin have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are muscle and limbs/digits/tail.

Description from OMIM:46 125420

Aliases & Classifications for Dentin Dysplasia

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8Disease Ontology, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 46OMIM, 34MeSH, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
dentin dysplasia:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

dentin dysplasia 8 10 44 48 60
dentinal dysplasia 8
dd 48


External Ids:

Disease Ontology8 DOID:701
OMIM46 125420
MeSH34 D003805
MESH via Orphanet35 D003805
SNOMED-CT56 45742009, 109492001
ICD10 via Orphanet26 K00.5
SNOMED-CT via Orphanet57 109492001
UMLS via Orphanet61 C0011430

Related Diseases for Dentin Dysplasia

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17GeneCards, 18GeneDecks
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Diseases in the Dentin Dysplasia family:

Dentin Sensitivity Dentin Dysplasia, Type 1
Dentin Dysplasia, Type Ii

Diseases related to Dentin Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1dentinogenesis imperfecta30.6MMP20, DSPP, MEP1B, MEPE, DMP1, IBSP
2amelogenesis imperfecta30.2KLK4, ENAM, MMP25, MMP20, DSPP, AMBN
3dentinogenesis imperfecta 130.0DMP1, DSPP
4dental fluorosis30.0MMP25, MMP20
5prostate cancer29.8KLK4, IBSP, DSPP, SPP1
6osteoarthritis29.8COL1A2, COL1A1, IBSP, DSPP, SPP1
7dentin dysplasia sclerotic bones10.4
8dentin dysplasia, type i, with microdontia and misshapen teeth10.4
9dentin dysplasia, type 110.4
10dentin dysplasia, type ii10.3
11dentin dysplasia, coronal10.3
12coronary artery disease10.3
13hypertension10.3
14diabetic nephropathy10.2
15denys-drash syndrome10.2
16myocardial infarction10.2
17leprosy10.1
18hypervitaminosis d10.0
19arthritis10.0
20periodontitis10.0
21rheumatoid arthritis10.0
22lepromatous leprosy10.0
23end stage renal failure10.0
24coronary restenosis10.0
25acute myocardial infarction10.0
26diabetes mellitus10.0
27obesity10.0
28sarcoidosis10.0
29primary hyperoxaluria10.0SPP1
30calcinosis10.0SPP1
31dental enamel hypoplasia10.0DSPP
32fibrous dysplasia10.0IBSP, MSX2
33cleft lip10.0MSX1, PAX9
34hypophosphatemia10.0DMP1, MEPE, DSPP
35x-linked hypophosphatemia10.0MEPE, DMP1
36tooth agenesis10.0MSX1, PAX9
37rickets10.0DSPP, MEPE, DMP1
38cleft palate10.0DSPP, MSX1, PAX9
39periodontal disease10.0SPP1, DSPP, IBSP
40aortic valve stenosis10.0SPP1, IBSP
41adenoameloblastoma10.0MMP20, DSPP, AMBN, IBSP
42osteogenesis imperfecta type 410.0COL1A1, COL1A2
43col1a1/2-related osteogenesis imperfecta10.0COL1A2, COL1A1
44osteogenesis imperfecta, type ii10.0COL1A1, COL1A2
45osteogenesis imperfecta type iii10.0COL1A1, COL1A2
46osteogenesis imperfecta type i10.0COL1A1, COL1A2
47breast cancer10.0IBSP, MSX2, SPP1
48ehlers-danlos syndrome, classic type10.0DSPP, COL1A1, COL1A2
49connective tissue disease10.0COL1A2, COL1A1, DSPP
50ehlers-danlos syndrome10.0COL1A2, COL1A1, DSPP

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



Diseases related to dentin dysplasia

Clinical Features for Dentin Dysplasia

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

125420

Symptoms:

48
  • tooth shape anomaly
  • dentine anomaly
  • osteosclerosis/osteopetrosis/bone condensation
  • autosomal dominant inheritance
  • exostoses

Drugs & Therapeutics for Dentin Dysplasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Dentin Dysplasia

Drug clinical trials:

Search ClinicalTrials for Dentin Dysplasia

Search NIH Clinical Center for Dentin Dysplasia

Search CenterWatch for Dentin Dysplasia

Genetic Tests for Dentin Dysplasia

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Anatomical Context for Dentin Dysplasia

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30LifeMap Discovery™, 32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Dentin Dysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6SPP1, PAX9, MSX2, MSX1, COL1A1, COL1A2
2MP:00053718.3COL1A2, COL1A1, IBSP, DMP1, MSX1, MSX2
3MP:00053817.6COL1A1, MEP1A, PRDM16, MSX1, MSX2, PAX9
4MP:00053787.2KLK4, COL1A2, COL1A1, IBSP, MEP1B, PRDM16
5MP:00053827.0ENAM, KLK4, COL1A1, AMBN, DMP1, PRDM16
6MP:00053906.6AMBN, IBSP, COL1A1, COL1A2, DMP1, MEPE

Publications for Dentin Dysplasia

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Sources:
50PubMed
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Articles related to Dentin Dysplasia:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
Rootless teeth: Dentin dysplasia type I. (24403801)
2013
2
Dentin dysplasia type I. (23814198)
2013
3
Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family. (23712319)
2013
4
Orthodontic treatment of a patient with dentin dysplasia type I. (23452977)
2013
5
Typical radiographic findings of dentin dysplasia type 1b with dental fluorosis. (24367729)
2013
6
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
7
Variation of dentin dysplasia type I: report of atypical findings in the permanent dentition. (21519653)
2011
8
Dentin dysplasia type I: a case report and review of the literature. (20205797)
2010
9
Dentin dysplasia: single-tooth involvement? (19417880)
2009
10
Dentin dysplasia type I with pyogenic granuloma in a 12-year-old girl. (19736509)
2009
11
Periodontal status of patients with dentin dysplasia type I: report of three cases within a family. (18597615)
2008
12
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. (19029076)
2008
13
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. (19021896)
2008
14
A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. (19026876)
2008
15
General practitioner's radiology case 55. Dentin dysplasia. (18019125)
2007
16
Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. (16567553)
2006
17
Dentin dysplasia type I treated with onlay bone grafting, sinus augmentation, and osseointegrated implants. (16966898)
2006
18
Mandibular phenotype of p20C/EBPbeta transgenic mice: Reduced alveolar bone mass and site-specific dentin dysplasia. (16682266)
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
Dentin dysplasia. (11507509)
1999
25
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. (9541230)
1998
26
Dentin dysplasia type I. Report of case and ultrastructural study. (9866969)
1998
27
Dentin dysplasia type I: five cases within one family. (9720092)
1998
28
Dentin dysplasia, type II linkage to chromosome 4q. (9493074)
1997
29
Dentin dysplasia--a case report. (9522734)
1995
30
Dentin dysplasia type I. Radiologic and genetic perspectives in a six-generation family. (7970601)
1994
31
Spectrum of dentin dysplasia in a family: case report and literature review. (7854952)
1994
32
Transmission electron microscopic appearance of dentin matrix in type II dentin dysplasia. (1754835)
1991
33
Palmoplantar epidermal atrophy with hypokeratosis, dys- and hypotrichosis, hypodontia, enamel and dentin hypoplasia, isolated cleft palate with cleft uvula, strabismus cryptorchism and other anomalies--an undescribed ecto-mesodermal dysplasia?]. (1677642)
1991
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
Dentin dysplasia type II: absence of type III collagen in dentin. (2195160)
1990
37
Dentin dysplasia type II: report of case. (2760319)
1989
38
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. (3150442)
1988
39
Diagnostic challenge. Dentin dysplasia, type II. (3456914)
1986
40
Interradicular dentin dysplasia associated with amelogenesis imperfecta. (3862024)
1985
41
A scanning electron microscopic study of dentin dysplasia type II in primary dentition. (6589579)
1984
42
Management of dentin dysplasia and facial disharmony. (6574606)
1983
43
Interrupted root development--a new form of dentin dysplasia. (6603951)
1983
44
Dentin dysplasia type I: a clinical report. (6947011)
1981
45
Dentin dysplasia type I: a scanning electron microscopic analysis of the primary dentition. (6935585)
1980
46
Radiographic manifestations of an unusual combination Types I and Type II dentin dysplasia. (272613)
1978
47
Focal odontoblastic dysplasia: dentin dysplasia type III? (271928)
1977
48
Dentin dysplasia type I. Clinical, morphologic, and genetic studies of a case. (1063351)
1976
49
Polarized light study of enamel and dentin dysplasia. (5240796)
1968
50
Dentine dysplasia associated with rheumatoid arthritis and hypervitaminosis D. (13224191)
1955

Genetic Variations for Dentin Dysplasia

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Expression for genes affiliated with Dentin Dysplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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37NCBI BioSystems Database, 53Reactome, 29KEGG, 12EMD Millipore, 51QIAGEN
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Pathways related to Dentin Dysplasia according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7IBSP, COL1A1
29.7COL1A1, COL1A2
39.7COL1A1, COL1A2
49.7COL1A1, COL1A2
59.7COL1A2, COL1A1
69.7COL1A2, COL1A1
79.7COL1A2, COL1A1
8
Hide members
9.5SPP1, IBSP, COL1A1
99.2SPP1, IBSP, COL1A1, COL1A2
10
Hide members
9.2COL1A2, COL1A1, IBSP, SPP1
11
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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9.2COL1A2, COL1A1, IBSP, SPP1
12
Hide members
8.9COL1A2, COL1A1, MMP20, MMP25
13
Cell adhesion ECM remodeling
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8.9COL1A2, COL1A1, MMP20, MMP25
14
Hide members
8.7COL1A2, COL1A1, MEPE, MMP20, SPP1
158.6MEP1B, MEP1A, COL1A1, COL1A2
16
Hide members
8.4SPP1, MMP25, MMP20, COL1A1, COL1A2, KLK4

Compounds for genes affiliated with Dentin Dysplasia

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44Novoseek, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB, 24HMDB
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Compounds related to Dentin Dysplasia according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1fibroin4410.3SPP1, IBSP
2alizarin4410.2IBSP, SPP1
3grgds4410.2IBSP, SPP1
4calcium oxalate4410.2SPP1, IBSP
5grgdsp4410.2IBSP, SPP1
6methylmethacrylate4410.1IBSP, DSPP, SPP1
7miltefosine4410.1SPP1, DMP1, IBSP
8fluoride4410.1SPP1, MMP20, DSPP
9chitosan4410.0SPP1, IBSP
10Collagenase1110.0COL1A2, COL1A1
11nppa4410.0COL1A2, COL1A1
12carbodiimide449.8SPP1, COL1A1, COL1A2
13nppb44 59 2811.8COL1A2, COL1A1
141,25 dihydroxy vitamin d3449.7SPP1, IBSP, COL1A1
15xbai449.7COL1A1, COL1A2
16gm 6001599.7MMP20, MMP25
17hydroxyapatite449.6SPP1, ENAM, DSPP, DMP1, IBSP
18uk 383367599.6MMP25, MMP20
19procollagen449.5COL1A2, COL1A1, IBSP, SPP1
20gi 254023x599.4MMP20, MMP25
21vitamin d449.1COL1A2, COL1A1, IBSP, DMP1, DSPP, SPP1
22oligonucleotide449.1COL1A2, COL1A1, IBSP, MSX2, SPP1
23estrogen449.0SPP1, DSPP, IBSP, COL1A1, COL1A2, KLK4
24serine448.7KLK4, COL1A2, COL1A1, IBSP, DSPP, MMP20
25calcium44 49 11 2410.8COL1A2, COL1A1, IBSP, DMP1, DSPP, MMP20

GO Terms for genes affiliated with Dentin Dysplasia

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16Gene Ontology
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Cellular components related to Dentin Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:0055849.4COL1A2, COL1A1
2extracellular spaceGO:0056158.1SPP1, MMP20, MEP1B, MEP1A, COL1A1, COL1A2
3proteinaceous extracellular matrixGO:0055787.8ENAM, MMP25, MMP20, DSPP, MEPE, DMP1

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1embryonic nail plate morphogenesisGO:03588010.3MSX2, MSX1
2positive regulation of cell-substrate adhesionGO:01081110.1DMP1, SPP1, SMOC2
3amelogenesisGO:09718610.0KLK4, MMP20, ENAM
4bone trabecula formationGO:0603469.9MSX2, COL1A1
5skin morphogenesisGO:0435899.8COL1A1, COL1A2
6osteoblast differentiationGO:0016499.8COL1A1, MSX2, SPP1
7cellular response to growth factor stimulusGO:0713639.8PAX9, MSX2, IBSP
8odontogenesisGO:0424769.8ENAM, PAX9, COL1A2
9ossificationGO:0015039.8DSPP, DMP1, IBSP
10protein heterotrimerizationGO:0702089.7COL1A1, COL1A2
11face morphogenesisGO:0603259.7PAX9, MSX1, COL1A1
12biomineral tissue developmentGO:0312149.4SPP1, DSPP, MEPE, DMP1, IBSP
13collagen catabolic processGO:0305749.3COL1A2, COL1A1, MMP20
14skeletal system developmentGO:0015019.3COL1A2, COL1A1, MEPE, DSPP
15extracellular matrix disassemblyGO:0226179.1MMP20, COL1A1, COL1A2
16extracellular matrix organizationGO:0301988.7COL1A2, COL1A1, IBSP, DMP1, MMP20, SPP1
17proteolysisGO:0065088.4KLK4, MEP1A, MEP1B, MMP20, MMP25

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:05084010.1SPP1, DMP1
2platelet-derived growth factor bindingGO:0484079.6COL1A1, COL1A2
3structural constituent of tooth enamelGO:0303459.6AMBN, ENAM
4extracellular matrix structural constituentGO:0052019.2DSPP, MEPE, COL1A1, COL1A2
5calcium ion bindingGO:0055098.7DMP1, DSPP, MMP20, MMP25, SMOC2
6metalloendopeptidase activityGO:0042228.6MMP25, MMP20, MEP1B, MEP1A

Products for genes affiliated with Dentin Dysplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet