MCID: DNT041
MIFTS: 28

Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth

Categories: Genetic diseases, Rare diseases, Oral diseases

Aliases & Classifications for Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth

MalaCards integrated aliases for Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth:

Name: Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth 54 13
Radicular Dentin Dysplasia 50 24 56 71
Rootless Teeth 50 24 71
Dtdp1 50 56 71
Dentin Dysplasia, Type I 24 29
Dentin Dysplasia Type I 50 56
Dd-I 50 56
Dentin Dysplasia 1, with Extreme Microdontia and Misshapen Teeth 71
Dentin Dysplasia Type 1 with Microdontia and Shape Anomalies 56
Atypical Dentin Dysplasia Due to Smoc2 Deficiency 56
Dentin Dysplasia Shields Type I 71
Dentin Dysplasia, Type 1 50
Dentin Dysplasia 1 71
Dtdp1-Mmt 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal recessive


HPO:

32
dentin dysplasia, type i, with microdontia and misshapen teeth:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare odontological diseases


External Ids:

OMIM 54 125400
ICD10 via Orphanet 34 K00.5
MESH via Orphanet 43 C538215
UMLS via Orphanet 70 C0399379

Summaries for Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth

NIH Rare Diseases : 50 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. last updated: 9/1/2012

MalaCards based summary : Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth, also known as radicular dentin dysplasia, is related to dentin dysplasia, type ii and dentin dysplasia, and has symptoms including microdontia, taurodontia and periapical bone loss. An important gene associated with Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth is SMOC2 (SPARC Related Modular Calcium Binding 2). Affiliated tissues include bone and testes.

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

Related Diseases for Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth

Diseases related to Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 dentin dysplasia, type ii 11.0
2 dentin dysplasia 10.5
3 periodontitis 9.8
4 pyogenic granuloma 9.8
5 depressed scar 8.4 DSPP SMOC2 SSUH2 VPS4B
6 sacral agenesis with vertebral anomalies 8.0 DSPP SMOC2 SSUH2 VPS4B

Graphical network of the top 20 diseases related to Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth:



Diseases related to Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth

Symptoms & Phenotypes for Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Teeth:
taurodontism (in some patients)
misshapen teeth (in some patients)
microdontia (in some patients)
periapical radiolucencies
absent root canals
more

Clinical features from OMIM:

125400

Human phenotypes related to Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth:

32
id Description HPO Frequency HPO Source Accession
1 microdontia 32 occasional (7.5%) HP:0000691
2 taurodontia 32 occasional (7.5%) HP:0000679
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, with Microdontia and Misshapen Teeth

Search Clinical Trials , NIH Clinical Center for Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth

Genetic Tests for Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth

Genetic tests related to Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth:

id Genetic test Affiliating Genes
1 Dentin Dysplasia, Type I 29 24 SMOC2

Anatomical Context for Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth

MalaCards organs/tissues related to Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth:

39
Bone, Testes

Publications for Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth

Variations for Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth

ClinVar genetic disease variations for Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth:

6
id 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.681T> A (p.Cys227Ter) single nucleotide variant Pathogenic rs875989843 GRCh37 Chromosome 6, 168999508: 168999508

Expression for Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth

Search GEO for disease gene expression data for Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth.

Pathways for Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth

GO Terms for Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth

Cellular components related to Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 8.62 DSPP SMOC2

Biological processes related to Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth according to GeneCards Suite gene sharing:

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

Sources for Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth

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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