DGI1
MCID: DNT025
MIFTS: 35

Dentinogenesis Imperfecta 1 (DGI1)

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

Aliases & Classifications for Dentinogenesis Imperfecta 1

MalaCards integrated aliases for Dentinogenesis Imperfecta 1:

Name: Dentinogenesis Imperfecta 1 58 76
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta 58 76 74
Opalescent Dentin 58 76 74
Dgi-Ii 58 76 56
Opalescent Teeth Without Osteogenesis Imperfecta 58 76
Dentinogenesis Imperfecta - Shield's Type Ii 30 6
Dentinogenesis Imperfecta, Shields Type Ii 58 13
Capdepont Teeth 58 76
Dgi1 58 76
Dentinogenesis Imperfecta, Shields Type 2 76
Dentinogenesis Imperfecta Shields Type Ii 76
Non-Syndromic Dentinogenesis Imperfecta 76
Non-Syndromic Dgi 76
Dgi2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
primary teeth affected greater than secondary teeth
allelic to dentin dysplasia, type 2
shields classification -
type 1 - associated with osteogenesis imperfecta
type 2 - hereditary opalescent dentin, not associated with bone defect
type 3 - brandywine isolate opalescent dentin


HPO:

33
dentinogenesis imperfecta 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 125490
MeSH 45 D003811
SNOMED-CT via HPO 70 196286005 263681008

Summaries for Dentinogenesis Imperfecta 1

UniProtKB/Swiss-Prot : 76 Dentinogenesis imperfecta, Shields type 2: A form of dentinogenesis imperfecta, an autosomal dominant dentin disorder characterized by amber-brown, opalescent teeth that fracture and shed their enamel during mastication, thereby exposing the dentin to rapid wear. Radiographically, the crown appears bulbous and pulpal obliteration is common. The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin. Both primary and permanent teeth are affected. DGI2 is not associated with osteogenesis imperfecta.

MalaCards based summary : Dentinogenesis Imperfecta 1, also known as dentinogenesis imperfecta without osteogenesis imperfecta, is related to dentinogenesis imperfecta and deafness, autosomal dominant 39, with dentinogenesis imperfecta 1. An important gene associated with Dentinogenesis Imperfecta 1 is DSPP (Dentin Sialophosphoprotein), and among its related pathways/superpathways are Degradation of the extracellular matrix and ECM proteoglycans. The drugs Antibodies, Monoclonal and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotype is dentinogenesis imperfecta.

Description from OMIM: 125490

Related Diseases for Dentinogenesis Imperfecta 1

Graphical network of the top 20 diseases related to Dentinogenesis Imperfecta 1:



Diseases related to Dentinogenesis Imperfecta 1

Symptoms & Phenotypes for Dentinogenesis Imperfecta 1

Human phenotypes related to Dentinogenesis Imperfecta 1:

33
# Description HPO Frequency HPO Source Accession
1 dentinogenesis imperfecta 33 HP:0000703

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
dentinogenesis imperfecta
brown-blue or opalescent brown teeth
bulbous shaped crown
narrow roots
root canals are small or obliterated
more

Clinical features from OMIM:

125490

Drugs & Therapeutics for Dentinogenesis Imperfecta 1

Drugs for Dentinogenesis Imperfecta 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies, Monoclonal Phase 1
2 Antibodies Phase 1
3 Immunologic Factors Phase 1
4 Immunoglobulins Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta Recruiting NCT03064074 Phase 1 Fresolimumab
2 Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants Recruiting NCT03810859 Not Applicable
3 Dental Malocclusion and Craniofacial Development in OI Recruiting NCT02934451
4 BBD Longitudinal Study of Osteogenesis Imperfecta Recruiting NCT02432625
5 Orodental Manifestations of Rare Diseases Recruiting NCT02397824

Search NIH Clinical Center for Dentinogenesis Imperfecta 1

Genetic Tests for Dentinogenesis Imperfecta 1

Genetic tests related to Dentinogenesis Imperfecta 1:

# Genetic test Affiliating Genes
1 Dentinogenesis Imperfecta - Shield's Type Ii 30 DSPP

Anatomical Context for Dentinogenesis Imperfecta 1

MalaCards organs/tissues related to Dentinogenesis Imperfecta 1:

42
Bone

Publications for Dentinogenesis Imperfecta 1

Articles related to Dentinogenesis Imperfecta 1:

(show all 11)
# Title Authors Year
1
Rough endoplasmic reticulum trafficking errors by different classes of mutant dentin sialophosphoprotein (DSPP) cause dominant negative effects in both dentinogenesis imperfecta and dentin dysplasia by entrapping normal DSPP. ( 22392858 )
2012
2
[Family tree and restoration method of hereditary opalescent dentin: a case report]. ( 19927739 )
2009
3
Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population. ( 18456718 )
2008
4
[A case report of fixed restoration of hereditary opalescent dentin]. ( 19186872 )
2008
5
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. ( 15592686 )
2005
6
Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. ( 14758537 )
2004
7
Hereditary opalescent dentin--a case report. ( 15573663 )
2004
8
DSPP mutation in dentinogenesis imperfecta Shields type II. ( 11175779 )
2001
9
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. ( 11175790 )
2001
10
Radiological features of hereditary opalescent dentin. ( 9780905 )
1998
11
Immunohistochemical localization of Type III collagen in the dentin of patients with osteogenesis imperfecta and hereditary opalescent dentin. ( 6160228 )
1980

Variations for Dentinogenesis Imperfecta 1

UniProtKB/Swiss-Prot genetic disease variations for Dentinogenesis Imperfecta 1:

76
# Symbol AA change Variation ID SNP ID
1 DSPP p.Arg68Trp VAR_030661 rs36094464
2 DSPP p.Ala15Val VAR_036862 rs121912989
3 DSPP p.Val18Asp VAR_070253

ClinVar genetic disease variations for Dentinogenesis Imperfecta 1:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSPP NM_014208.3(DSPP): c.133C> T (p.Gln45Ter) single nucleotide variant Pathogenic rs121912985 GRCh37 Chromosome 4, 88533338: 88533338
2 DSPP NM_014208.3(DSPP): c.133C> T (p.Gln45Ter) single nucleotide variant Pathogenic rs121912985 GRCh38 Chromosome 4, 87612186: 87612186
3 DSPP NM_014208.3(DSPP): c.135+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 4, 88533341: 88533341
4 DSPP NM_014208.3(DSPP): c.135+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 4, 87612189: 87612189
5 DSPP NM_014208.3(DSPP): c.52G> T (p.Val18Phe) single nucleotide variant Pathogenic rs121912987 GRCh37 Chromosome 4, 88533257: 88533257
6 DSPP NM_014208.3(DSPP): c.52G> T (p.Val18Phe) single nucleotide variant Pathogenic rs121912987 GRCh38 Chromosome 4, 87612105: 87612105
7 DSPP NM_014208.3(DSPP): c.202A> T (p.Arg68Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs36094464 GRCh37 Chromosome 4, 88533540: 88533540
8 DSPP NM_014208.3(DSPP): c.202A> T (p.Arg68Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs36094464 GRCh38 Chromosome 4, 87612388: 87612388
9 DSPP NM_014208.3(DSPP): c.44C> T (p.Ala15Val) single nucleotide variant Pathogenic rs121912989 GRCh37 Chromosome 4, 88532104: 88532104
10 DSPP NM_014208.3(DSPP): c.44C> T (p.Ala15Val) single nucleotide variant Pathogenic rs121912989 GRCh38 Chromosome 4, 87610952: 87610952
11 DSPP NM_014208.3(DSPP): c.3438delC (p.Asp1146Glufs) deletion Pathogenic GRCh38 Chromosome 4, 87616100: 87616100
12 DSPP NM_014208.3(DSPP): c.3438delC (p.Asp1146Glufs) deletion Pathogenic GRCh37 Chromosome 4, 88537252: 88537252

Expression for Dentinogenesis Imperfecta 1

Search GEO for disease gene expression data for Dentinogenesis Imperfecta 1.

Pathways for Dentinogenesis Imperfecta 1

Pathways related to Dentinogenesis Imperfecta 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.61 DMP1 DSPP
2 10.38 DMP1 DSPP

GO Terms for Dentinogenesis Imperfecta 1

Cellular components related to Dentinogenesis Imperfecta 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.62 DMP1 DSPP

Biological processes related to Dentinogenesis Imperfecta 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.16 DMP1 DSPP
2 ossification GO:0001503 8.96 DMP1 DSPP
3 biomineral tissue development GO:0031214 8.62 DMP1 DSPP

Molecular functions related to Dentinogenesis Imperfecta 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.62 DMP1 DSPP

Sources for Dentinogenesis Imperfecta 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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