DTDP1
MCID: DNT051
MIFTS: 33

Dentin Dysplasia, Type I (DTDP1)

Categories: Genetic diseases, Rare diseases, Oral diseases

Aliases & Classifications for Dentin Dysplasia, Type I

MalaCards integrated aliases for Dentin Dysplasia, Type I:

Name: Dentin Dysplasia, Type I 57 29 40
Radicular Dentin Dysplasia 57 53 59 75
Dtdp1 57 53 59 75
Rootless Teeth 57 53 75
Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth 57 13
Dentin Dysplasia Type I 53 59
Dd-I 53 59
Dentin Dysplasia, Type I, with Extreme Microdontia and Misshapen Teeth 6
Dentin Dysplasia 1, with Extreme Microdontia and Misshapen Teeth 75
Dentin Dysplasia Type 1 with Microdontia and Shape Anomalies 59
Atypical Dentin Dysplasia Due to Smoc2 Deficiency 59
Dentin Dysplasia, Shields Type I 57
Dentin Dysplasia Shields Type I 75
Dentin Dysplasia, Radicular 76
Dentin Dysplasia, Type 1 53
Dentin Dysplasia 1 75
Dtdp1-Mmt 75

Characteristics:

Orphanet epidemiological data:

59
atypical dentin dysplasia due to smoc2 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
dentin dysplasia type i
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
dentin dysplasia, type i:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare odontological diseases


External Ids:

OMIM 57 125400
ICD10 via Orphanet 34 K00.5
MESH via Orphanet 45 C538215
UMLS via Orphanet 74 C0399379

Summaries for Dentin Dysplasia, Type I

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 99789Disease definitionDentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth.EpidemiologyPrevalence of DD-I is reported to be 1/100,000.Clinical descriptionThe condition affects both primary and permanent dentition. Signs of the condition are variable. In patients with DD-I, the teeth are generally unremarkable clinically with a normal shape and color. However, the roots appear sharp with conical, apical constrictions on radiography. The teeth are generally mobile, with frequent abscess formation and can be lost prematurely. Aberrant dentin formation can lead to partial or total pulp obliteration.EtiologyDD-I 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 methodsSince teeth in DD-I appear clinically normal, diagnosis is based on radiographic features (abnormal roots, pulp obliteration, partially obliterated crescent shaped pulp chamber and occasionally pulp stones). Molecular genetic testing can be used to confirm the diagnosis.Differential diagnosisDifferential diagnoses include conditions that have overlapping clinical or radiographic features with DD such as those leading to early tooth loss: Kostmann syndrome, cyclic neutropenia, Chediak-Hegashi syndrome, Langerhans cell histiocytosis, Papillon-Lefèvre syndrome, hypophosphatasia, and vitamin D-resistant rickets (see these terms).Genetic counselingDD-I 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 treatmentAppropriate 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.

MalaCards based summary : Dentin Dysplasia, Type I, also known as radicular dentin dysplasia, is related to dentin dysplasia and elsahy-waters syndrome. An important gene associated with Dentin Dysplasia, Type I is SMOC2 (SPARC Related Modular Calcium Binding 2). Affiliated tissues include bone and testes, and related phenotypes are taurodontia and microdontia

OMIM : 57 In dentin dysplasia type I, both primary and secondary dentitions are affected. The color and general morphology of the teeth are usually normal, although they may be slightly opalescent and blue or brown. Teeth may be very mobile and exfoliate spontaneously because of inadequate root formation. On radiographs, the roots are short and may be more pointed than normal. Pulp chambers are usually absent except for a chevron-shaped remnant in the crown (Witkop, 1975). Root canals are usually absent. Periapical radiolucencies may be present at the apices of affected teeth, for reasons unknown. On light microscopic examination of the permanent teeth, the coronal dentin is normal, but further apically becomes irregular, fills the pulp chamber, and has a 'sand-dune' morphology. Scanning electron microscopic studies of the deciduous and permanent teeth have been reported (Sauk et al., 1972; Melnick et al., 1980). (125400)

UniProtKB/Swiss-Prot : 75 Dentin dysplasia 1: A dental defect in which both primary and secondary dentitions are affected. The clinical crowns of both permanent and deciduous teeth are of normal shape, form and color in most cases, although they may be slightly opalescent and blue or brown. Teeth may be very mobile and exfoliate spontaneously because of inadequate root formation. On radiographs, the roots are short and may be more pointed than normal. Pulp chambers are usually absent except for a chevron-shaped remnant in the crown. Root canals are usually absent. Dentin dysplasia 1, with extreme microdontia and misshapen teeth: A complex dental malformation characterized by extreme microdontia, oligodontia, dental shape anomalies affecting both primary and permanent teeth, double permanent-tooth formation, thin enamel, and very short roots with a thin associated alveolar bone, as seen in the spectrum of dentin dysplasia type 1.

Wikipedia : 76 Dentin dysplasia (DD) is a rare genetic developmental disorder dentine production of the teeth, commonly... more...

Related Diseases for Dentin Dysplasia, Type I

Diseases in the Dentin Dysplasia family:

Dentin Dysplasia, Type I Dentin Dysplasia, Type Ii

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

# Related Disease Score Top Affiliating Genes
1 dentin dysplasia 27.3 DSPP SMOC2 SSUH2 VPS4B
2 elsahy-waters syndrome 11.2
3 dentin dysplasia, type ii 11.1
4 type i 10.6
5 periodontitis 9.9
6 pyogenic granuloma 9.9

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



Diseases related to Dentin Dysplasia, Type I

Symptoms & Phenotypes for Dentin Dysplasia, Type I

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
tooth coloration normal to bluish/brownish/opalescent
malalignment
exfoliate easily with minor trauma
absent to short roots
absent pulp chambers (primary teeth)
more

Clinical features from OMIM:

125400

Human phenotypes related to Dentin Dysplasia, Type I:

32
# Description HPO Frequency HPO Source Accession
1 taurodontia 32 occasional (7.5%) HP:0000679
2 microdontia 32 occasional (7.5%) HP:0000691
3 periapical bone loss 32 HP:0000700
4 obliteration of the pulp chamber 32 HP:0006350
5 dentinogenesis imperfecta limited to primary teeth 32 HP:0011060

Drugs & Therapeutics for Dentin Dysplasia, Type I

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

Genetic Tests for Dentin Dysplasia, Type I

Genetic tests related to Dentin Dysplasia, Type I:

# Genetic test Affiliating Genes
1 Dentin Dysplasia, Type I 29 SMOC2

Anatomical Context for Dentin Dysplasia, Type I

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

41
Bone, Testes

Publications for Dentin Dysplasia, Type I

Articles related to Dentin Dysplasia, Type I:

(show all 25)
# Title Authors Year
1
Dentin dysplasia type I-A dental disease with genetic heterogeneity. ( 29575674 )
2018
2
Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I. ( 27680507 )
2017
3
Histological and Ultrastructure Analysis of Dentin Dysplasia Type I in Primary Teeth: A Case Report. ( 25855887 )
2015
4
Dentin dysplasia type I-novel findings in deciduous and permanent teeth. ( 26693824 )
2015
5
Dentin dysplasia type I - A rare entity. ( 26097326 )
2015
6
Orthodontic treatment of a patient with dentin dysplasia type I. ( 23452977 )
2013
7
Dentin dysplasia type I. ( 23814198 )
2013
8
Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family. ( 23712319 )
2013
9
Rootless teeth: Dentin dysplasia type I. ( 24403801 )
2013
10
Variation of dentin dysplasia type I: report of atypical findings in the permanent dentition. ( 21519653 )
2011
11
Dentin dysplasia type I: a case report and review of the literature. ( 20205797 )
2010
12
Dentin dysplasia type I with pyogenic granuloma in a 12-year-old girl. ( 19736509 )
2009
13
Periodontal status of patients with dentin dysplasia type I: report of three cases within a family. ( 18597615 )
2008
14
Dentin dysplasia type I: a challenge for treatment with dental implants. ( 17714586 )
2007
15
Dentin dysplasia type I treated with onlay bone grafting, sinus augmentation, and osseointegrated implants. ( 16966898 )
2006
16
Dentin dysplasia type I: report of atypical cases in the permanent and mixed dentitions. ( 15243476 )
2004
17
Oral and maxillofacial pathology case of the month. Dentin dysplasia type I. ( 12592741 )
2002
18
Dentin dysplasia type I--a case report. ( 10081578 )
1999
19
Dentin dysplasia type I. Report of case and ultrastructural study. ( 9866969 )
1998
20
Dentin dysplasia type I: five cases within one family. ( 9720092 )
1998
21
Dentin dysplasia type I. Radiologic and genetic perspectives in a six-generation family. ( 7970601 )
1994
22
Clinical, radiographic, and histological manifestations of dentin dysplasia, type I: Report of case. ( 2592698 )
1989
23
Dentin dysplasia type I: a clinical report. ( 6947011 )
1981
24
Dentin dysplasia type I: a scanning electron microscopic analysis of the primary dentition. ( 6935585 )
1980
25
Dentin dysplasia type I. Clinical, morphologic, and genetic studies of a case. ( 1063351 )
1976

Variations for Dentin Dysplasia, Type I

ClinVar genetic disease variations for Dentin Dysplasia, Type I:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SMOC2 NM_022138.2(SMOC2): c.84+1G> T single nucleotide variant Pathogenic rs786200927 GRCh38 Chromosome 6, 168441455: 168441455
2 SMOC2 NM_022138.2(SMOC2): c.84+1G> T single nucleotide variant Pathogenic rs786200927 GRCh37 Chromosome 6, 168842135: 168842135
3 SMOC2 NM_022138.2(SMOC2): c.681T> A (p.Cys227Ter) single nucleotide variant Pathogenic rs875989843 GRCh37 Chromosome 6, 168999508: 168999508
4 SMOC2 NM_022138.2(SMOC2): c.681T> A (p.Cys227Ter) single nucleotide variant Pathogenic rs875989843 GRCh38 Chromosome 6, 168598828: 168598828

Expression for Dentin Dysplasia, Type I

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

Pathways for Dentin Dysplasia, Type I

GO Terms for Dentin Dysplasia, Type I

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.62 DSPP SMOC2

Sources for Dentin Dysplasia, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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