MCID: DNT048
MIFTS: 15

Dentinogenesis Imperfecta Type 3

Categories: Bone diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Dentinogenesis Imperfecta Type 3

MalaCards integrated aliases for Dentinogenesis Imperfecta Type 3:

Name: Dentinogenesis Imperfecta Type 3 53
Dentinogenesis Imperfecta - Shield's Type Iii 29 6
Brandywine Type Dentinogenesis Imperfecta 53
Dentinogenesis Imperfecta, Shields Type 3 53
Dentinogenesis Imperfecta Shields Type 3 53
Dentinogenesis Imperfecta Type Iii 53

Classifications:



Summaries for Dentinogenesis Imperfecta Type 3

NIH Rare Diseases : 53 Dentinogenesis imperfecta type 3 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development. People affected by this condition generally have discolored (most often a blue-gray or yellow-brown color) and translucent teeth. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth. Dentinogenesis imperfecta type 3 is caused by changes (mutations) in the DSPP gene which are inherited in an autosomal dominant manner. Treatment is usually focused on protecting primary (baby) and then permanent teeth with preformed pediatric crowns and other interventions. The replacement of teeth might be considered in the future with dentures and/or implants.

MalaCards based summary : Dentinogenesis Imperfecta Type 3, also known as dentinogenesis imperfecta - shield's type iii, is related to dentinogenesis imperfecta and dentinogenesis imperfecta, shields type iii. An important gene associated with Dentinogenesis Imperfecta Type 3 is DSPP (Dentin Sialophosphoprotein). Affiliated tissues include bone.

Related Diseases for Dentinogenesis Imperfecta Type 3

Diseases in the Dentinogenesis Imperfecta family:

Dentinogenesis Imperfecta 1 Dentinogenesis Imperfecta Type 2
Dentinogenesis Imperfecta Type 3

Diseases related to Dentinogenesis Imperfecta Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dentinogenesis imperfecta 11.7
2 dentinogenesis imperfecta, shields type iii 11.3

Symptoms & Phenotypes for Dentinogenesis Imperfecta Type 3

Drugs & Therapeutics for Dentinogenesis Imperfecta Type 3

Search Clinical Trials , NIH Clinical Center for Dentinogenesis Imperfecta Type 3

Genetic Tests for Dentinogenesis Imperfecta Type 3

Genetic tests related to Dentinogenesis Imperfecta Type 3:

# Genetic test Affiliating Genes
1 Dentinogenesis Imperfecta - Shield's Type Iii 29 DSPP

Anatomical Context for Dentinogenesis Imperfecta Type 3

MalaCards organs/tissues related to Dentinogenesis Imperfecta Type 3:

41
Bone

Publications for Dentinogenesis Imperfecta Type 3

Articles related to Dentinogenesis Imperfecta Type 3:

# Title Authors Year
1
Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III. ( 15690376 )
2005
2
Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III. ( 12721295 )
2003
3
Genetic linkage of the dentinogenesis imperfecta type III locus to chromosome 4q. ( 10371253 )
1999
4
Dentinogenesis imperfecta type III with enamel and cementum defects. ( 2989751 )
1985

Variations for Dentinogenesis Imperfecta Type 3

ClinVar genetic disease variations for Dentinogenesis Imperfecta Type 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DSPP NM_014208.3(DSPP): c.52G> T (p.Val18Phe) single nucleotide variant Pathogenic rs121912987 GRCh37 Chromosome 4, 88533257: 88533257
2 DSPP NM_014208.3(DSPP): c.52G> T (p.Val18Phe) single nucleotide variant Pathogenic rs121912987 GRCh38 Chromosome 4, 87612105: 87612105

Expression for Dentinogenesis Imperfecta Type 3

Search GEO for disease gene expression data for Dentinogenesis Imperfecta Type 3.

Pathways for Dentinogenesis Imperfecta Type 3

GO Terms for Dentinogenesis Imperfecta Type 3

Sources for Dentinogenesis Imperfecta Type 3

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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