DGI2
MCID: DNT025
MIFTS: 34

Dentinogenesis Imperfecta 1 (DGI2)

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

Aliases & Classifications for Dentinogenesis Imperfecta 1

MalaCards integrated aliases for Dentinogenesis Imperfecta 1:

Name: Dentinogenesis Imperfecta 1 57 75
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta 57 75 73
Opalescent Dentin 57 75 73
Dgi-Ii 57 75 55
Opalescent Teeth Without Osteogenesis Imperfecta 57 75
Dentinogenesis Imperfecta - Shield's Type Ii 29 6
Dentinogenesis Imperfecta, Shields Type Ii 57 13
Capdepont Teeth 57 75
Dgi1 57 75
Dentinogenesis Imperfecta, Shields Type 2 75
Dentinogenesis Imperfecta Shields Type Ii 75
Non-Syndromic Dentinogenesis Imperfecta 75
Non-Syndromic Dgi 75
Dgi2 75

Characteristics:

OMIM:

57
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:

32
dentinogenesis imperfecta 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 125490
MeSH 44 D003811
SNOMED-CT via HPO 69 263681008 196286005

Summaries for Dentinogenesis Imperfecta 1

UniProtKB/Swiss-Prot : 75 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 and Antibodies, Monoclonal 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Dentinogenesis Imperfecta 1:

32
# Description HPO Frequency HPO Source Accession
1 dentinogenesis imperfecta 32 HP:0000703

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 Phase 1
2 Antibodies, Monoclonal Phase 1
3 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 Dental Malocclusion and Craniofacial Development in OI Recruiting NCT02934451
3 BBD Longitudinal Study of Osteogenesis Imperfecta Recruiting NCT02432625
4 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 29 DSPP

Anatomical Context for Dentinogenesis Imperfecta 1

MalaCards organs/tissues related to Dentinogenesis Imperfecta 1:

41
Bone

Publications for Dentinogenesis Imperfecta 1

Articles related to Dentinogenesis Imperfecta 1:

# Title Authors Year
1
[Family tree and restoration method of hereditary opalescent dentin: a case report]. ( 19927739 )
2009
2
[A case report of fixed restoration of hereditary opalescent dentin]. ( 19186872 )
2008
3
Hereditary opalescent dentin--a case report. ( 15573663 )
2004
4
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. ( 11175790 )
2001
5
Radiological features of hereditary opalescent dentin. ( 9780905 )
1998
6
Typical roentgenographic appearance in an atypical case of dentinogenesis imperfecta (opalescent dentine). ( 5259029 )
1969
7
Hereditary dentinogenesis imperfecta (opalescent dentine). ( 18132147 )
1949

Variations for Dentinogenesis Imperfecta 1

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

75
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 DSPP DSPP, 1-BP DEL, 3438C deletion Pathogenic
2 DSPP NM_014208.3(DSPP): c.133C> T (p.Gln45Ter) single nucleotide variant Pathogenic rs121912985 GRCh37 Chromosome 4, 88533338: 88533338
3 DSPP NM_014208.3(DSPP): c.133C> T (p.Gln45Ter) single nucleotide variant Pathogenic rs121912985 GRCh38 Chromosome 4, 87612186: 87612186
4 DSPP DSPP, IVS3DS, G-A, +1 single nucleotide variant Pathogenic
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.44C> T (p.Ala15Val) single nucleotide variant Pathogenic rs121912989 GRCh37 Chromosome 4, 88532104: 88532104
8 DSPP NM_014208.3(DSPP): c.44C> T (p.Ala15Val) single nucleotide variant Pathogenic rs121912989 GRCh38 Chromosome 4, 87610952: 87610952

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

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 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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