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DD
MCID: DNT009
MIFTS: 40

Dentin Dysplasia (DD)

Categories: Genetic diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Dentin Dysplasia

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MalaCards integrated aliases for Dentin Dysplasia:

Name: Dentin Dysplasia 12 58 36 54 44 15 70
Dentinal Dysplasia 12
Dd 58

Characteristics:

Orphanet epidemiological data:

58
dentin dysplasia
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Oral diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:701
KEGG 36 H02348
MeSH 44 D003805
SNOMED-CT 67 109492001
ICD10 32 K00.5
MESH via Orphanet 45 D003805
ICD10 via Orphanet 33 K00.5
UMLS via Orphanet 71 C0011430
Orphanet 58 ORPHA1653
UMLS 70 C0011430
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Summaries for Dentin Dysplasia

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KEGG : 36 Dentin dysplasia (DD/DTDP) is a rare hereditary disturbance of dentin formation. Dentin dysplasia is divided into two main classes based on the clinical and radiographic appearance, type I (DD1/DTDP1) and type II (DD2/DTDP2). Type 1 is referred to as radicular dentin dysplasia and type 2 as coronal dentin dysplasia.

MalaCards based summary : Dentin Dysplasia, also known as dentinal dysplasia, is related to dentin dysplasia, type i and dentin dysplasia, type ii. An important gene associated with Dentin Dysplasia is DSPP (Dentin Sialophosphoprotein), and among its related pathways/superpathways are Degradation of the extracellular matrix and ECM-receptor interaction. Affiliated tissues include Tooth and bone, and related phenotypes are abnormality of dental enamel and abnormality of dental morphology

Disease Ontology : 12 A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology.

Wikipedia : 73 Dentin dysplasia (DD) is a rare genetic developmental disorder affecting dentine production of the... more...

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Related Diseases for Dentin Dysplasia

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Diseases in the Dentin Dysplasia family:

Dentin Dysplasia, Type I Dentin Dysplasia, Type Ii

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

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 dentin dysplasia, type i 33.0 VPS4B SSUH2 SMOC2 DSPP
2 dentin dysplasia, type ii 32.7 SPP1 IBSP DSPP DMP1
3 dentinogenesis imperfecta 31.8 SPP1 MEPE IBSP DSPP DMP1
4 dentinogenesis imperfecta 1 30.6 DSPP DMP1
5 suppurative periapical periodontitis 30.2 DSPP AMBN
6 hypophosphatemic rickets, x-linked recessive 30.0 MEPE DSPP DMP1
7 calcinosis 29.9 SPP1 MEPE DMP1
8 hypoplastic amelogenesis imperfecta 29.7 ENAM AMBN
9 rickets 29.7 MEPE IBSP DSPP DMP1
10 amelogenesis imperfecta, type ie 29.5 AMELX AMBN
11 dental pulp necrosis 29.3 MEPE IBSP DSPP DMP1 AMELX
12 tooth disease 29.1 ENAM DSPP AMELX AMBN
13 dental fluorosis 28.6 MMP20 ENAM DSPP AMELX AMBN
14 brittle bone disorder 28.6 SPP1 MSX2 MIA2 MEPE IBSP ENAM
15 amelogenesis imperfecta 28.6 MSX2 MMP20 ENAM DSPP AMELX AMBN
16 dental caries 28.5 SPP1 IBSP ENAM DSPP DMP1 AMELX
17 trichodentoosseous syndrome 28.3 MSX2 MMP20 ENAM DSPP AMELX AMBN
18 dentin dysplasia with sclerotic bones 11.6
19 elsahy-waters syndrome 11.3
20 hereditary dentin defect 11.1
21 hair whorl 10.3
22 dentinogenesis imperfecta, shields type iii 10.2
23 dental abscess 10.2 MEPE DSPP
24 periapical periodontitis 10.2 IBSP DSPP
25 oncogenic osteomalacia 10.2 MEPE DMP1
26 syndromic craniosynostosis 10.2 SPP1 MSX2
27 osteoblastoma 10.2 MEPE CDH11
28 osteoglophonic dysplasia 10.1 MEPE DMP1
29 osteogenesis imperfecta, type vi 10.1 MEPE IBSP
30 root caries 10.1 DSPP AMELX
31 root resorption 10.1 SPP1 DSPP DMP1
32 phosphorus metabolism disease 10.1 SPP1 MEPE
33 hypophosphatasia 10.1 SPP1 DSPP
34 gingival recession 10.0 DSPP AMBN
35 periodontitis 10.0
36 bone remodeling disease 10.0 SPP1 MEPE IBSP
37 arterial calcification of infancy 10.0 SPP1 MSX2
38 cleidocranial dysplasia 10.0 SPP1 MSX2 IBSP
39 periapical granuloma 10.0
40 amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 10.0 AMELX AMBN
41 hypophosphatemia 9.9 SPP1 MEPE DSPP DMP1
42 dental pulp calcification 9.9 ENAM DSPP AMELX
43 ischemic bone disease 9.9 SPP1 IBSP
44 autosomal recessive hypophosphatemic rickets 9.9 MEPE IBSP DSPP DMP1
45 amelogenesis imperfecta, type ia 9.9
46 polycystic liver disease 1 with or without kidney cysts 9.9
47 renal hypodysplasia/aplasia 1 9.9
48 amelogenesis imperfecta, type ig 9.9
49 amelogenesis imperfecta, hypomaturation type, iia1 9.9
50 tumoral calcinosis, hyperphosphatemic, familial, 1 9.9

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



Diseases related to Dentin Dysplasia
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Symptoms & Phenotypes for Dentin Dysplasia

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Human phenotypes related to Dentin Dysplasia:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
2 abnormality of dental morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0006482
3 increased bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0011001
4 exostoses 58 31 frequent (33%) Frequent (79-30%) HP:0100777

MGI Mouse Phenotypes related to Dentin Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.61 AMBN DMP1 ENAM IBSP MMP20 MSX2
2 skeleton MP:0005390 9.28 AMBN DMP1 ENAM IBSP MEPE MSX2
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Drugs & Therapeutics for Dentin Dysplasia

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Search Clinical Trials , NIH Clinical Center for Dentin Dysplasia

Cochrane evidence based reviews: dentin dysplasia

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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:

40
Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Dentin Dysplasia:
# Tissue Anatomical CompartmentCell Relevance
1 Tooth Dentin Odontoblasts Affected by disease
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Publications for Dentin Dysplasia

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Articles related to Dentin Dysplasia:

(show top 50) (show all 202)
# Title Authors PMID Year
1
The dentin phosphoprotein repeat region and inherited defects of dentin. 6 61
26788535 2016
2
Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population. 6
18456718 2008
3
Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization. 6
12354781 2002
4
Dentin dysplasia type I: a case report and review of the literature. 54 61
20205797 2010
5
Dentin dysplasia type I with pyogenic granuloma in a 12-year-old girl. 54 61
19736509 2009
6
Dentin dysplasia: single-tooth involvement? 61 54
19417880 2009
7
A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II. 61 54
19131317 2009
8
A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. 54 61
19026876 2008
9
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. 54 61
19029076 2008
10
A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. 61 54
18521831 2008
11
Periodontal status of patients with dentin dysplasia type I: report of three cases within a family. 54 61
18597615 2008
12
Cranial suture biology and dental development: genetic and clinical perspectives. 54 61
17686002 2007
13
General practitioner's radiology case 55. Dentin dysplasia. 54 61
18019125 2007
14
Dentin dysplasia type I: a challenge for treatment with dental implants. 54 61
17714586 2007
15
A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family. 61 54
17686168 2007
16
Hereditary dentin defects. 54 61
17452557 2007
17
Developmental biology and genetics of dental malformations. 61 54
17552940 2007
18
[Genetic studies of a Chilean family with three different dental anomalies]. 54 61
17277871 2006
19
Molecular basis of human dentin diseases. 54 61
16955410 2006
20
Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II. 54 61
17026502 2006
21
Dentin dysplasia type I treated with onlay bone grafting, sinus augmentation, and osseointegrated implants. 61 54
16966898 2006
22
Overexpression of transforming growth factor-beta1 in teeth results in detachment of ameloblasts and enamel defects. 61 54
16674659 2006
23
Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. 54 61
16567553 2006
24
Multiple developmental dental anomalies and hypermobility type Ehlers-Danlos syndrome. 54 61
16937863 2006
25
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. 54 61
15592686 2005
26
Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III. 61 54
15690376 2005
27
A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. 61 54
15241678 2004
28
Dentin dysplasia type I: report of atypical cases in the permanent and mixed dentitions. 61 54
15243476 2004
29
Dental structural diseases mapping to human chromosome 4q21. 61 54
12952210 2003
30
MEPE/OF45, a new dentin/bone matrix protein and candidate gene for dentin diseases mapping to chromosome 4q21. 61 54
12489176 2002
31
Reduced expression of dentin sialophosphoprotein is associated with dysplastic dentin in mice overexpressing transforming growth factor-beta 1 in teeth. 54 61
11116156 2001
32
[Hereditary pathology of the enamel and dentin. A review of molecular genetic research]. 61 54
10693338 2000
33
Dentin dysplasia, type II: report of 2 new families and review of the literature. 54 61
10397672 1999
34
Localized deficient root development associated with taurodontism: case report. 54 61
10355016 1999
35
Case study. Dentin dysplasia. 54 61
10895705 1999
36
Dentin dysplasia type I. Report of case and ultrastructural study. 61 54
9866969 1998
37
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. 54 61
9541230 1998
38
Dentin dysplasia, type II linkage to chromosome 4q. 61 54
9493074 1997
39
Dentin dysplasia--a case report. 61 54
9522734 1995
40
Spectrum of dentin dysplasia in a family: case report and literature review. 61 54
7854952 1994
41
Root agenesis associated with chronic infection and traumatic curettage of the maxillary sinus. 61 54
8058549 1994
42
Heritable dentin defects: nosology, pathology, and treatment. 61 54
8456802 1993
43
Ehlers Danlos syndrome type I with novel dental features. 61 54
1432737 1992
44
Transmission electron microscopic appearance of dentin matrix in type II dentin dysplasia. 54 61
1754835 1991
45
Dentin dysplasia: review of the literature and a proposed subclassification based on radiographic findings. 61 54
1891231 1991
46
Dental lesions in tumoral calcinosis. 61 54
2066872 1991
47
Type I dentin dysplasia: report of two cases. 61 54
1785908 1991
48
Dentin dysplasia type II: absence of type III collagen in dentin. 54 61
2195160 1990
49
VPS4B deficiency causes early embryonic lethality and induces signal transduction disorders of cell endocytosis. 61
33682352 2021
50
Guided endodontic treatment of multiple teeth with dentin dysplasia: a case report. 61
33203420 2020
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Variations for Dentin Dysplasia

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ClinVar genetic disease variations for Dentin Dysplasia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DSPP NM_014208.3(DSPP):c.16T>G (p.Tyr6Asp) SNV Pathogenic 16857 rs121912988 GRCh37: 4:88532076-88532076
GRCh38: 4:87610924-87610924
2 DSPP NM_014208.3(DSPP):c.2040del (p.Ser680fs) Deletion Pathogenic 16860 rs1560478758 GRCh37: 4:88535854-88535854
GRCh38: 4:87614702-87614702
3 DSPP NM_014208.3(DSPP):c.3135del (p.Ser1045fs) Deletion Likely pathogenic 548664 rs1553904372 GRCh37: 4:88536949-88536949
GRCh38: 4:87615797-87615797
4 DSPP NM_014208.3(DSPP):c.3504_3508dup (p.Asp1170fs) Duplication Likely pathogenic 548665 rs1553904512 GRCh37: 4:88537316-88537317
GRCh38: 4:87616164-87616165
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Expression for Dentin Dysplasia

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Search GEO for disease gene expression data for Dentin Dysplasia.
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Pathways for Dentin Dysplasia

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

# Super pathways Score Top Affiliating Genes
1
Degradation of the extracellular matrix 65
Show member pathways
 12.01 SPP1 MMP20 IBSP DSPP DMP1
2
ECM-receptor interaction 36
Show member pathways
 11.12 SPP1 IBSP DSPP DMP1
3
ECM proteoglycans 65
11.09 IBSP DSPP DMP1
4
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
10.85 SPP1 IBSP
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GO Terms for Dentin Dysplasia

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Cellular components related to Dentin Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.85 SPP1 SMOC2 MMP20 MEPE IBSP ENAM
2 endoplasmic reticulum lumen GO:0005788 9.43 SPP1 MEPE ENAM DMP1 AMELX AMBN
3 extracellular matrix GO:0031012 9.1 MMP20 MEPE ENAM DSPP DMP1 AMELX

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.85 SPP1 IBSP CDH11 AMELX AMBN
2 post-translational protein modification GO:0043687 9.8 SPP1 MEPE ENAM DMP1 AMELX AMBN
3 extracellular matrix organization GO:0030198 9.73 SPP1 SMOC2 MMP20 IBSP DSPP DMP1
4 osteoblast differentiation GO:0001649 9.67 SPP1 MSX2 IBSP AMELX
5 skeletal system development GO:0001501 9.65 MEPE DSPP CDH11
6 cellular protein metabolic process GO:0044267 9.63 SPP1 MEPE ENAM DMP1 AMELX AMBN
7 amelogenesis GO:0097186 9.43 MMP20 ENAM
8 ossification GO:0001503 9.43 SPP1 MSX2 IBSP DSPP DMP1 CDH11
9 regulation of enamel mineralization GO:0070173 9.4 MMP20 DMP1
10 biomineral tissue development GO:0031214 9.23 SPP1 MEPE IBSP ENAM DSPP DMP1

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.33 SPP1 IBSP DMP1
2 extracellular matrix binding GO:0050840 9.13 SPP1 SMOC2 DMP1
3 structural constituent of tooth enamel GO:0030345 8.8 ENAM AMELX AMBN
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Sources for Dentin Dysplasia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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