DD
MCID: DNT009
MIFTS: 51

Dentin Dysplasia (DD) malady

Genetic diseases, Oral diseases, Rare diseases categories

Summaries for Dentin Dysplasia

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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 autosomal dominant inheritance, exostoses and osteosclerosis/osteopetrosis/bone condensation. 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:48 125420

Aliases & Classifications for Dentin Dysplasia

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9Disease Ontology, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 36MeSH, 59SNOMED-CT, 48OMIM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
dentin dysplasia:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

dentin dysplasia 9 11 46 50 63
dentinal dysplasia 9
dd 50


External Ids:

Disease Ontology9 DOID:701
MeSH36 D003805
OMIM48 125420
MESH via Orphanet37 D003805
SNOMED-CT59 45742009, 109492001
ICD10 via Orphanet27 K00.5
SNOMED-CT via Orphanet60 109492001
UMLS via Orphanet64 C0011430

Related Diseases for Dentin Dysplasia

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Dentin Dysplasia, Type Ii family:

Dentin Sensitivity dentin dysplasia
Dentin Dysplasia, Type 1

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

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1dentinogenesis imperfecta30.4ENAM, MEP1B, MEPE, MSX1, MMP20, DSPP
2amelogenesis imperfecta30.3ENAM, MMP20, DSPP, AMBN
3dentinogenesis imperfecta 130.2DSPP, DMP1
4dental fluorosis30.2MMP20
5osteoarthritis29.9DSPP, IBSP, SPP1
6dentin dysplasia, type ii10.7
7dentin dysplasia sclerotic bones10.5
8dentin dysplasia, type i, with microdontia and misshapen teeth10.5
9dentin dysplasia, coronal10.4
10dentin dysplasia, type 110.4
11coronary artery disease10.3
12artery disease10.3
13endotheliitis10.3
14diabetic nephropathy10.3
15hypertension10.3
16denys-drash syndrome10.2
17myocardial infarction10.2
18leprosy10.2
19hypervitaminosis d10.1
20arthritis10.1
21periodontitis10.1
22rheumatoid arthritis10.1
23pyogenic granuloma10.1
24lepromatous leprosy10.1
25end stage renal failure10.1
26acute myocardial infarction10.1
27diabetes mellitus10.1
28obesity10.1
29sarcoidosis10.1
30x-linked hypophosphatemia10.1MEPE, DMP1
31aortic valve stenosis10.1IBSP, SPP1
32osteomalacia10.1MEPE, DMP1
33fibrous dysplasia10.1MSX2, IBSP
34osteogenesis imperfecta10.1DSPP, IBSP
35hypophosphatemia10.1MEPE, DSPP, DMP1
36rickets10.1DMP1, DSPP, MEPE
37bone carcinoma10.0IBSP, SPP1
38periodontal disease10.0DSPP, IBSP, SPP1
39secondary syphilis10.0IBSP, SPP1
40synostosis10.0MSX1, MSX2
41osteoporosis10.0MEPE, IBSP, SPP1
42lung cancer10.0SPP1, DMP1, IBSP, DSPP
43tooth agenesis10.0MSX1, PAX9
44adenoameloblastoma10.0IBSP, AMBN, DSPP, MMP20
45osteosarcoma10.0MEPE, IBSP, SPP1
46cleft palate10.0MSX1, DSPP, PAX9
47cleft lip9.9PAX9, MSX1
48acute pancreatitis9.9
49cervical dystonia9.9
50rheumatic heart disease9.9

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



Diseases related to dentin dysplasia

Symptoms for Dentin Dysplasia

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Sources:
48OMIM, 50Orphanet
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Clinical features from OMIM:

125420

Symptoms:

50
  • autosomal dominant inheritance
  • exostoses
  • osteosclerosis/osteopetrosis/bone condensation
  • dentine anomaly
  • tooth shape anomaly

Drugs & Therapeutics for Dentin Dysplasia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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Sources:
32LifeMap Discoveryā„¢, 34MalaCards
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MalaCards organs/tissues related to Dentin Dysplasia:

34
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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Sources:
38MGI
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MGI Mouse Phenotypes related to Dentin Dysplasia:

38
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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Sources:
53PubMed
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Articles related to Dentin Dysplasia:

(show top 50)    (show all 55)
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
Dentin dysplasia type I: a challenge for treatment with dental implants. (17714586)
2007
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
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
Dentin dysplasia. (11507509)
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 I: five cases within one family. (9720092)
1998
27
Dentin dysplasia, type II linkage to chromosome 4q. (9493074)
1997
28
Dentin dysplasia--a case report. (9522734)
1995
29
Dentin dysplasia type I. Radiologic and genetic perspectives in a six-generation family. (7970601)
1994
30
Spectrum of dentin dysplasia in a family: case report and literature review. (7854952)
1994
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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Sources:
2BioGPS, 16Gene 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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Sources:
51PathCards, 61Thomson Reuters, 56Reactome
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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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Sources:
46Novoseek, 25HMDB, 62Tocris Bioscience, 12DrugBank, 52PharmGKB
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Compounds related to Dentin Dysplasia according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1fibroin4610.1IBSP, SPP1
2alizarin4610.1IBSP, SPP1
3grgds4610.1IBSP, SPP1
4calcium oxalate4610.1SPP1, IBSP
5grgdsp4610.0IBSP, SPP1
6chitosan4610.0IBSP, SPP1
7methylmethacrylate469.9SPP1, IBSP, DSPP
8miltefosine469.9IBSP, DMP1, SPP1
9titanium469.9IBSP, SPP1
10tripeptide469.9IBSP, SPP1
11fluoride469.6SPP1, DSPP, MMP20
12vitamin d469.6SPP1, DMP1, IBSP, DSPP
13matrigel469.5SPP1, DMP1, IBSP
14hydroxyapatite469.3ENAM, DSPP, IBSP, DMP1, SPP1
15ascorbic acid46 2510.3DSPP, IBSP, SPP1
16calcitriol46 62 25 1212.2SPP1, DSPP, MEPE
17calcium46 52 25 1211.3SPP1, DMP1, IBSP, DSPP, MMP20, MSX2

GO Terms for genes affiliated with Dentin Dysplasia

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17Gene Ontology
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Cellular components related to Dentin Dysplasia according to GeneCards/GeneDecks:

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

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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dentin Dysplasia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet