MCID: DNT027
MIFTS: 35

Dentin Dysplasia, Type Ii

Categories: Genetic diseases, Rare diseases, Oral diseases

Aliases & Classifications for Dentin Dysplasia, Type Ii

MalaCards integrated aliases for Dentin Dysplasia, Type Ii:

Name: Dentin Dysplasia, Type Ii 54 24 13
Dtdp2 50 24 56 71
Pulp Stones 50 71 29
Coronal Dentin Dysplasia 50 71
Dentin Dysplasia Type Ii 50 56
Pulpal Dysplasia 50 71
Dd-Ii 50 56
Dentin Dysplasia, Shields Type Ii 24
Dentin Dyspalsia, Shields Type 2 50
Dentin Dysplasia Shields Type Ii 71
Anomalous Dysplasia of Dentin 71
Dentin Dysplasia, Coronal 50
Dentin Dysplasia 2 71
Dental Pulp Stone 69

Characteristics:

Orphanet epidemiological data:

56
dentin dysplasia type ii
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

54
Miscellaneous:
allelic to dentinogenesis imperfecta 1

Inheritance:
autosomal dominant


HPO:

32
dentin dysplasia, type ii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare odontological diseases


External Ids:

OMIM 54 125420
Orphanet 56 ORPHA99791
UMLS via Orphanet 70 C0399380
ICD10 via Orphanet 34 K00.5

Summaries for Dentin Dysplasia, Type Ii

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 99791disease definitiondentin dysplasia type ii (dd-ii) is a rare mild form of dentin dysplasia (dd, see this term) characterized by normal tooth roots but abnormal primary dentition.epidemiologyprevalence of dd-ii is not known.clinical descriptionin dd-ii, features of primary dentition resemble those observed in dentinogenesis imperfecta type 2 (dgi-2, see this term) and include amber translucent coloration, bulbous crowns, cervical constriction, tooth attrition, and short constricted roots. pulp obliteration is also observed. the permanent dentition seems either unaffected (normal teeth morphology and color) or mild radiographic abnormalities are found (thistle tube-shaped pulp chambers and multiple pulp calcifications).etiologydd-ii is caused by mutations in the dspp gene (4q21.3) coding for dentin sialophosphoprotein, a precursor for dentin sialoprotein and dentin phosphoprotein which are involved in dentinogenesis.diagnostic methodsdiagnosis is based on history, clinical examination and radiographic features. molecular genetic testing can be used to confirm the diagnosis.differential diagnosisdifferential diagnoses include conditions that have similar clinical or radiographic features to dd such as osteogenesis imperfecta or dentinogenesis imperfecta (see these terms).genetic counselingdd-2 follows an autosomal dominant pattern of inheritance. there is therefore a 50% chance that a child born to an affected parent will have the condition.management and treatmentin the primary dentition, preformed stainless steel crowns on molars may be used to prevent tooth wear and maintain the occlusal vertical dimension. appropriate care makes it possible to achieve good esthetic appearance and functional performance.prognosisprognosis depends primarily on the age of diagnosis and the quality of management.visit the orphanet disease page for more resources. last updated: 9/1/2012

MalaCards based summary : Dentin Dysplasia, Type Ii, also known as dtdp2, is related to symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch and dentinogenesis imperfecta, and has symptoms including pulp stones and dentinogenesis imperfecta limited to primary teeth. An important gene associated with Dentin Dysplasia, Type Ii is DSPP (Dentin Sialophosphoprotein), and among its related pathways/superpathways are Degradation of the extracellular matrix and ECM-receptor interaction. Affiliated tissues include testes.

UniProtKB/Swiss-Prot : 71 Dentin dysplasia 2: A dental defect in which the deciduous teeth are opalescent. The permanent teeth are of normal shape, form, and color in most cases. The root length is normal. On radiographs, the pulp chambers of permanent teeth are obliterated, have a thistle-tube deformity and contain pulp stones.

OMIM : 54
Dentin dysplasia type II is a defect of dentin formation in which the clinical appearance of the secondary teeth is normal, but the primary teeth may appear opalescent, similar to teeth affected by dentinogeneesis imperfecta. The roots of the teeth are of normal shape and morphologic character. The pulp chambers and root canals of the anterior teeth and the premolars are shaped like thistle tubes because of the radicular extension of the pulp chamber. Most teeth show accumulations of pulp stones in these unusually shaped pulp chambers (summary by Kalk et al., 1998). Also see dentin dysplasia type I (DTDP1; 125400). (125420)

Related Diseases for Dentin Dysplasia, Type Ii

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



Diseases related to Dentin Dysplasia, Type Ii

Symptoms & Phenotypes for Dentin Dysplasia, Type Ii

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Teeth:
normal-shaped roots (secondary teeth)
multiple pulp stones (secondary teeth)
normal coloration (secondary teeth)
thistle-shaped pulp chambers (secondary teeth)
normal-shaped roots (primary teeth)
more

Clinical features from OMIM:

125420

Human phenotypes related to Dentin Dysplasia, Type Ii:

32
id Description HPO Frequency HPO Source Accession
1 pulp stones 32 HP:0003771
2 dentinogenesis imperfecta limited to primary teeth 32 HP:0011060

Drugs & Therapeutics for Dentin Dysplasia, Type Ii

Search Clinical Trials , NIH Clinical Center for Dentin Dysplasia, Type Ii

Genetic Tests for Dentin Dysplasia, Type Ii

Genetic tests related to Dentin Dysplasia, Type Ii:

id Genetic test Affiliating Genes
1 Pulp Stones 29
2 Dentin Dysplasia, Type Ii 24 DSPP

Anatomical Context for Dentin Dysplasia, Type Ii

MalaCards organs/tissues related to Dentin Dysplasia, Type Ii:

39
Testes

Publications for Dentin Dysplasia, Type Ii

Articles related to Dentin Dysplasia, Type Ii:

id Title Authors Year
1
Dentin dysplasia, type II: report of 2 new families and review of the literature. ( 10397672 )
1999
2
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. ( 9541230 )
1998
3
Dentin dysplasia, type II linkage to chromosome 4q. ( 9493074 )
1997
4
Dentin dysplasia type II: absence of type III collagen in dentin. ( 2195160 )
1990
5
Dentin dysplasia type II: report of case. ( 2760319 )
1989
6
Diagnostic challenge. Dentin dysplasia, type II. ( 3456914 )
1986
7
A scanning electron microscopic study of dentin dysplasia type II in primary dentition. ( 6589579 )
1984
8
Dentin dysplasia type II: review of the literature and report of a family. ( 6580302 )
1983
9
Dentin dysplasia, type II: a rare autosomal dominant disorder. ( 269353 )
1977
10
Dentin dysplasia, type II, or dentin dysplasia, coronal type. ( 4531620 )
1974

Variations for Dentin Dysplasia, Type Ii

UniProtKB/Swiss-Prot genetic disease variations for Dentin Dysplasia, Type Ii:

71
id Symbol AA change Variation ID SNP ID
1 DSPP p.Tyr6Asp VAR_036861 rs121912988

ClinVar genetic disease variations for Dentin Dysplasia, Type Ii:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DSPP DSPP, 1-BP DEL, 2040C deletion Pathogenic
2 DSPP NM_014208.3(DSPP): c.16T> G (p.Tyr6Asp) single nucleotide variant Pathogenic rs121912988 GRCh37 Chromosome 4, 88532076: 88532076

Expression for Dentin Dysplasia, Type Ii

Search GEO for disease gene expression data for Dentin Dysplasia, Type Ii.

Pathways for Dentin Dysplasia, Type Ii

Pathways related to Dentin Dysplasia, Type Ii according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.91 DMP1 DSPP IBSP SPP1
2
Show member pathways
11.43 IBSP SPP1
3 10.75 IBSP SPP1
4 10.56 DMP1 DSPP IBSP

GO Terms for Dentin Dysplasia, Type Ii

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.16 DMP1 SPP1
2 vesicle GO:0031982 8.96 IBSP SPP1
3 extracellular region GO:0005576 8.92 DMP1 DSPP IBSP SPP1

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

id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.32 DMP1 SPP1
2 osteoblast differentiation GO:0001649 9.26 IBSP SPP1
3 extracellular matrix organization GO:0030198 9.26 DMP1 DSPP IBSP SPP1
4 ossification GO:0001503 9.16 DMP1 DSPP
5 biomineral tissue development GO:0031214 8.92 DMP1 DSPP IBSP SPP1

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

id Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.96 DMP1 IBSP
2 extracellular matrix binding GO:0050840 8.62 DMP1 SPP1

Sources for Dentin Dysplasia, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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