DTDP1
MCID: DNT051
MIFTS: 34

Dentin Dysplasia, Type I (DTDP1)

Categories: Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Dentin Dysplasia, Type I

MalaCards integrated aliases for Dentin Dysplasia, Type I:

Name: Dentin Dysplasia, Type I 57 39
Radicular Dentin Dysplasia 57 20 58 72
Dtdp1 57 20 58 72
Dentin Dysplasia, Type 1 20 29 6
Rootless Teeth 57 20 72
Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth 57 13
Dentin Dysplasia Type I 20 58
Dd-I 20 58
Dentin Dysplasia, Type I, with Extreme Microdontia and Misshapen Teeth 6
Dentin Dysplasia 1, with Extreme Microdontia and Misshapen Teeth 72
Dentin Dysplasia Type 1 with Microdontia and Shape Anomalies 58
Atypical Dentin Dysplasia Due to Smoc2 Deficiency 58
Dentin Dysplasia, Shields Type I 57
Dentin Dysplasia Shields Type I 72
Dentin Dysplasia, Radicular 73
Dentin Dysplasia 1 72
Dtdp1-Mmt 72

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
dentin dysplasia, type i:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare odontological diseases


External Ids:

OMIM® 57 125400
MESH via Orphanet 45 C538215
ICD10 via Orphanet 33 K00.5
UMLS via Orphanet 71 C0399379

Summaries for Dentin Dysplasia, Type I

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99789 Definition Dentin 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. Epidemiology Prevalence of DD-I is reported to be 1/100,000. Clinical description The 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. Etiology DD-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 methods Since 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 diagnosis Differential 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-Lefevre syndrome, hypophosphatasia, and vitamin D-resistant rickets (see these terms). Genetic counseling DD-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 treatment 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 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, kidney and liver, and related phenotypes are microdontia and taurodontia

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 Dentin dysplasia (DD) is a rare genetic developmental disorder affecting dentine production of the... 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:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 dentin dysplasia 29.6 VPS4B SSUH2 SMOC2 DSPP
2 elsahy-waters syndrome 11.6
3 dentin dysplasia, type ii 11.3
4 hair whorl 10.2
5 osteochondrodysplasia 10.1
6 dentinogenesis imperfecta, shields type iii 10.1
7 polycystic liver disease 1 with or without kidney cysts 10.1
8 brittle bone disorder 10.1
9 bone resorption disease 10.1
10 pulpitis 10.1
11 dental pulp necrosis 10.1
12 dental caries 10.1
13 dentinogenesis imperfecta 10.1
14 periodontitis 10.1
15 pyogenic granuloma 10.1
16 tooth agenesis 9.6 SMOC2 DSPP

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

Human phenotypes related to Dentin Dysplasia, Type I:

31
# Description HPO Frequency HPO Source Accession
1 microdontia 31 occasional (7.5%) HP:0000691
2 taurodontia 31 occasional (7.5%) HP:0000679
3 obliteration of the pulp chamber 31 HP:0006350
4 periapical bone loss 31 HP:0000700
5 dentinogenesis imperfecta limited to primary teeth 31 HP:0011060

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 1 29 SMOC2

Anatomical Context for Dentin Dysplasia, Type I

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

40
Bone, Kidney, Liver

Publications for Dentin Dysplasia, Type I

Articles related to Dentin Dysplasia, Type I:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene. 57 6
23317772 2013
2
Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects. 6 57
22152679 2011
3
Dentin dysplasia type I: five cases within one family. 57 61
9720092 1998
4
Dentin dysplasia type I. Radiologic and genetic perspectives in a six-generation family. 61 57
7970601 1994
5
Dentin dysplasia: review of the literature and a proposed subclassification based on radiographic findings. 61 57
1891231 1991
6
Dentin dysplasia type I: a scanning electron microscopic analysis of the primary dentition. 57 61
6935585 1980
7
Dentin dysplasia type I. Clinical, morphologic, and genetic studies of a case. 57 61
1063351 1976
8
Type I dentin dysplasia: report of two cases. 57
1785908 1991
9
Dentine dysplasia with sclerotic bone and skeletal anomalies inherited as an autosomal dominant trait. A new syndrome. 57
264650 1977
10
Hereditary defects of dentin. 57
162890 1975
11
An electron optic analysis and explanation for the etiology of dentinal dysplasia. 57
4502151 1972
12
Short root anomaly. 57
4505388 1972
13
VPS4B deficiency causes early embryonic lethality and induces signal transduction disorders of cell endocytosis. 61
33682352 2021
14
Guided endodontic treatment of multiple teeth with dentin dysplasia: a case report. 61
33203420 2020
15
Endodontic treatment of dentin dysplasia type I D. 61
32964546 2020
16
An unusual variation of radicular dentin dysplasia: A rare case report with review of literature. 61
33433525 2020
17
VPS4B mutation impairs the osteogenic differentiation of dental follicle cells derived from a patient with dentin dysplasia type I. 61
32737282 2020
18
Vacuolar protein sorting 4B regulates the proliferation and odontoblastic differentiation of human dental pulp stem cells through the Wnt-β-catenin signalling pathway. 61
31218890 2019
19
Dentin dysplasia Type I: A rare case report. 61
31516254 2019
20
Dentin dysplasia type I-A dental disease with genetic heterogeneity. 61
29575674 2019
21
Vps4b heterozygous mice do not develop tooth defects that replicate human dentin dysplasia I. 61
30634912 2019
22
Dentin dysplasia type I. 61
30687910 2019
23
A rare case diagnosed as dentin dysplasia type II. 61
29940650 2018
24
Pfeiffer syndrome: oral healthcare management and description of new dental findings in a craniosynostosis. 61
28845899 2017
25
Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I. 61
27680507 2017
26
Dentin dysplasia type I-novel findings in deciduous and permanent teeth. 61
26693824 2015
27
Histological and Ultrastructure Analysis of Dentin Dysplasia Type I in Primary Teeth: A Case Report. 61
25855887 2015
28
Dentin dysplasia type I - A rare entity. 61
26097326 2015
29
Malformations of the tooth root in humans. 61
26578979 2015
30
Implant-based oral rehabilitation of a variant model of type I dentinal dysplasia: A rare case report. 61
25225567 2014
31
Orthodontic movement of teeth with short root anomaly: Should it be avoided, faced or ignored? 61
24351153 2013
32
Rootless teeth: Dentin dysplasia type I. 61
24403801 2013
33
Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family. 61
23712319 2013
34
Dentin dysplasia type I. 61
23814198 2013
35
Orthodontic treatment of a patient with dentin dysplasia type I. 61
23452977 2013
36
Variation of dentin dysplasia type I: report of atypical findings in the permanent dentition. 61
21519653 2011
37
Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance. 61
20949527 2010
38
Dentin dysplasia type I: a case report and review of the literature. 61
20205797 2010
39
Role of the transcription factor NFIC in odontoblast gene expression. 61
20066876 2009
40
Dentin dysplasia type I with pyogenic granuloma in a 12-year-old girl. 61
19736509 2009
41
Dentin dysplasia: single-tooth involvement? 61
19417880 2009
42
Periodontal status of patients with dentin dysplasia type I: report of three cases within a family. 61
18597615 2008
43
Dentin dysplasia type I: a challenge for treatment with dental implants. 61
17714586 2007
44
Dentin dysplasia type I treated with onlay bone grafting, sinus augmentation, and osseointegrated implants. 61
16966898 2006
45
Dentin dysplasia type I: report of atypical cases in the permanent and mixed dentitions. 61
15243476 2004
46
Oral and maxillofacial pathology case of the month. Dentin dysplasia type I. 61
12592741 2002
47
Dentin dysplasia type I--a case report. 61
10081578 1999
48
Dentin dysplasia type I. Report of case and ultrastructural study. 61
9866969 1998
49
Dental lesions in tumoral calcinosis. 61
2066872 1991
50
Clinical, radiographic, and histological manifestations of dentin dysplasia, type I: Report of case. 61
2592698 1989

Variations for Dentin Dysplasia, Type I

ClinVar genetic disease variations for Dentin Dysplasia, Type I:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMOC2 NM_022138.3(SMOC2):c.681T>A (p.Cys227Ter) SNV Pathogenic 225685 rs875989843 GRCh37: 6:168999508-168999508
GRCh38: 6:168598828-168598828
2 SMOC2 NM_001166412.2(SMOC2):c.84+1G>T SNV Pathogenic 30657 rs786200927 GRCh37: 6:168842135-168842135
GRCh38: 6:168441455-168441455
3 SMOC2 NM_001166412.2(SMOC2):c.400G>A (p.Val134Ile) SNV Uncertain significance 1027789 GRCh37: 6:168928344-168928344
GRCh38: 6:168527664-168527664

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 SMOC2 DSPP

Sources for Dentin Dysplasia, Type I

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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