Dentin Dysplasia, Type Ii (DTDP2)

Categories: Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Dentin Dysplasia, Type Ii

MalaCards integrated aliases for Dentin Dysplasia, Type Ii:

Name: Dentin Dysplasia, Type Ii 57 13
Dtdp2 57 20 58 72
Anomalous Dysplasia of Dentin 57 72 6
Coronal Dentin Dysplasia 57 20 72
Pulpal Dysplasia 57 20 72
Pulp Stones 57 20 72
Dentin Dysplasia, Coronal 73 20
Dentin Dysplasia Type Ii 20 58
Dd-Ii 20 58
Dentin Dysplasia, Shields Type Ii 57
Dentin Dyspalsia, Shields Type 2 20
Dentin Dysplasia Shields Type Ii 72
Dysplasia, Dentin, Type 2 39
Dentin Dysplasia 2 72
Dental Pulp Stone 70


Orphanet epidemiological data:

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


57 (Updated 20-May-2021)
autosomal dominant

allelic to dentinogenesis imperfecta 1


dentin dysplasia, type ii:
Inheritance autosomal dominant inheritance


Orphanet: 58  
Rare odontological diseases

External Ids:

OMIM® 57 125420
ICD10 via Orphanet 33 K00.5
UMLS via Orphanet 71 C0399380
Orphanet 58 ORPHA99791
SNOMED-CT via HPO 68 109492001 263681008 57602001
UMLS 70 C1527284

Summaries for Dentin Dysplasia, Type Ii

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99791 Definition Dentin 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. Epidemiology Prevalence of DD-II is not known. Clinical description In 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). Etiology DD-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 methods Diagnosis is based on history, clinical examination and radiographic features. Molecular genetic testing can be used to confirm the diagnosis. Differential diagnosis Differential diagnoses include conditions that have similar clinical or radiographic features to DD such as osteogenesis imperfecta or dentinogenesis imperfecta (see these terms). Genetic counseling DD-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 treatment In 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. Prognosis Prognosis depends primarily on the age of diagnosis and the quality of management.

MalaCards based summary : Dentin Dysplasia, Type Ii, also known as dtdp2, is related to dentinogenesis imperfecta and dentinogenesis imperfecta 1. 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 bone, and related phenotypes are pulp stones and dentinogenesis imperfecta limited to primary teeth

OMIM® : 57 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 dentinogenesis 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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.

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

Related Diseases for Dentin Dysplasia, Type Ii

Diseases in the Dentin Dysplasia family:

Dentin Dysplasia, Type I Dentin Dysplasia, Type Ii

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

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 dentinogenesis imperfecta 31.2 SPP1 IBSP DSPP DMP1
2 dentinogenesis imperfecta 1 30.2 DSPP DMP1
3 dentin dysplasia 29.8 SPP1 IBSP DSPP DMP1
4 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch 11.5
5 amelogenesis imperfecta, type ig 11.1
6 dental pulp calcification 10.3
7 dentinogenesis imperfecta, shields type iii 10.2
8 nephrolithiasis, calcium oxalate 10.2
9 taurodontism 10.1
10 brachydactyly 10.1
11 nephrolithiasis 10.1
12 dentin dysplasia, type i 10.1
13 hair whorl 10.1
14 hypophosphatasia 10.0 SPP1 DSPP
15 ankyloglossia with or without tooth anomalies 9.9
16 arteries, anomalies of 9.9
17 brachydactyly, type b1 9.9
18 van der woude syndrome 1 9.9
19 dens evaginatus 9.9
20 arterial calcification, generalized, of infancy, 1 9.9
21 schopf-schulz-passarge syndrome 9.9
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
23 lipoprotein quantitative trait locus 9.9
24 proximal symphalangism 9.9
25 sensorineural hearing loss 9.9
26 cholelithiasis 9.9
27 pulpitis 9.9
28 gout 9.9
29 gastritis 9.9
30 coronary stenosis 9.9
31 hyperphalangy 9.9
32 hypophosphatemic rickets, x-linked recessive 9.9 DSPP DMP1
33 microvascular complications of diabetes 3 9.9
34 microvascular complications of diabetes 4 9.9
35 microvascular complications of diabetes 6 9.9
36 microvascular complications of diabetes 7 9.9
37 uveitis 9.9
38 calcinosis 9.8 SPP1 DMP1
39 periapical periodontitis 9.8 IBSP DSPP
40 ischemic bone disease 9.8 SPP1 IBSP
41 bone disease 9.8 SPP1 IBSP
42 craniometaphyseal dysplasia, autosomal dominant 9.8 SPP1 IBSP
43 fibrous dysplasia 9.8 SPP1 IBSP
44 cleidocranial dysplasia 9.7 SPP1 IBSP
45 bone resorption disease 9.7 SPP1 IBSP
46 bone remodeling disease 9.7 SPP1 IBSP
47 aortic valve disease 2 9.7 SPP1 IBSP
48 root resorption 9.6 SPP1 DSPP DMP1
49 hypophosphatemia 9.6 SPP1 DSPP DMP1
50 pseudoxanthoma elasticum 9.6 SPP1 IBSP

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

Human phenotypes related to Dentin Dysplasia, Type Ii:

# Description HPO Frequency HPO Source Accession
1 pulp stones 31 HP:0003771
2 dentinogenesis imperfecta limited to primary teeth 31 HP:0011060

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
amber, translucent coloration (primary teeth)
obliteration of pulp chambers following eruption (primary teeth)
normal-shaped roots (primary teeth)
normal coloration (secondary teeth)
thistle-shaped pulp chambers (secondary teeth)

Clinical features from OMIM®:

125420 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Dentin Dysplasia, Type Ii:

# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.8 DMP1 IBSP SPP1

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

Anatomical Context for Dentin Dysplasia, Type Ii

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


Publications for Dentin Dysplasia, Type Ii

Articles related to Dentin Dysplasia, Type Ii:

(show all 34)
# Title Authors PMID Year
Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population. 6 57
18456718 2008
Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization. 57 6
12354781 2002
Dentin dysplasia, type II linkage to chromosome 4q. 57 61
9493074 1997
Dentin dysplasia, type II: a rare autosomal dominant disorder. 57 61
269353 1977
Dentin dysplasia, type II, or dentin dysplasia, coronal type. 57 61
4531620 1974
The dentin phosphoprotein repeat region and inherited defects of dentin. 6
26788535 2016
Dentin dysplasia type I: five cases within one family. 57
9720092 1998
Amelogenesis imperfecta--towards a new classification. 57
7553375 1995
Dysplasia of the dental pulp: report of a case. 57
4597245 1974
A proposed classification for heritable human dentine defects with a description of a new entity. 57
4516067 1973
Pulpal dysplasia. 57
5273848 1970
Anomalous dysplasia of dentine: report of case. 57
5268141 1970
Haploinsufficiency of Dspp Gene Causes Dentin Dysplasia Type II in Mice. 61
33240110 2020
Novel frameshift mutations in DSPP cause dentin dysplasia type II. 61
31454439 2019
A rare case diagnosed as dentin dysplasia type II. 61
29940650 2018
Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families. 61
22243242 2011
Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location. 61
20949630 2011
Porcine dentin sialoprotein glycosylation and glycosaminoglycan attachments. 61
21291557 2011
Astacin proteases cleave dentin sialophosphoprotein (Dspp) to generate dentin phosphoprotein (Dpp). 61
20687161 2011
Dentin dysplasia: single-tooth involvement? 61
19417880 2009
A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. 61
19026876 2008
Dentin Sialophophoprotein (DSPP) and Dentin. 61
20037676 2008
Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II. 61
17026502 2006
Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III. 61
15690376 2005
MEPE/OF45, a new dentin/bone matrix protein and candidate gene for dentin diseases mapping to chromosome 4q21. 61
12489176 2002
Dentin dysplasia, type II: report of 2 new families and review of the literature. 61
10397672 1999
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. 61
9541230 1998
Dentin dysplasia: review of the literature and a proposed subclassification based on radiographic findings. 61
1891231 1991
Dentin dysplasia type II: absence of type III collagen in dentin. 61
2195160 1990
Dentin dysplasia type II: report of case. 61
2760319 1989
[Dentin dysplasia type II]. 61
3459045 1986
Diagnostic challenge. Dentin dysplasia, type II. 61
3456914 1986
A scanning electron microscopic study of dentin dysplasia type II in primary dentition. 61
6589579 1984
Dentin dysplasia type II: review of the literature and report of a family. 61
6580302 1983

Variations for Dentin Dysplasia, Type Ii

ClinVar genetic disease variations for Dentin Dysplasia, Type Ii:

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

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

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

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:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
3 10.89 IBSP DSPP DMP1
4 10.85 SPP1 IBSP

GO Terms for Dentin Dysplasia, Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 vesicle GO:0031982 8.96 SPP1 IBSP
2 extracellular region GO:0005576 8.92 SPP1 IBSP DSPP DMP1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.46 SPP1 IBSP DSPP DMP1
2 cellular protein metabolic process GO:0044267 9.32 SPP1 DMP1
3 osteoblast differentiation GO:0001649 9.26 SPP1 IBSP
4 ossification GO:0001503 9.26 SPP1 IBSP DSPP DMP1
5 biomineral tissue development GO:0031214 8.92 SPP1 IBSP DSPP DMP1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix binding GO:0050840 8.96 SPP1 DMP1
2 integrin binding GO:0005178 8.8 SPP1 IBSP DMP1

Sources for Dentin Dysplasia, Type Ii

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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