DGI3
MCID: DNT044
MIFTS: 19

Dentinogenesis Imperfecta, Shields Type Iii (DGI3)

Categories: Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Dentinogenesis Imperfecta, Shields Type Iii

MalaCards integrated aliases for Dentinogenesis Imperfecta, Shields Type Iii:

Name: Dentinogenesis Imperfecta, Shields Type Iii 58 13 41
Dentinogenesis Imperfecta - Shield's Type Iii 30 6
Brandywine Type Dentinogenesis Imperfecta 58 76
Dentinogenesis Imperfecta, Shields Type 3 60 76
Dgi-Iii 58 56
Dentinogenesis Imperfecta Type 3 60
Dgi3 76

Characteristics:

Orphanet epidemiological data:

60
dentinogenesis imperfecta type 3
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
shields classification -
type 1 - associated with osteogenesis imperfecta
type 2 - hereditary opalescent dentin, not associated with bone defect
type 3 - brandywine isolate opalescent dentin
occurs in a southern maryland tri-racial inbred population known as the "brandywine isolate"


HPO:

33
dentinogenesis imperfecta, shields type iii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare odontological diseases


External Ids:

OMIM 58 125500
MeSH 45 D003811
ICD10 via Orphanet 35 K00.5
UMLS via Orphanet 75 C0399378
Orphanet 60 ORPHA166265
MedGen 43 C0399378

Summaries for Dentinogenesis Imperfecta, Shields Type Iii

UniProtKB/Swiss-Prot : 76 Dentinogenesis imperfecta, Shields type 3: 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. DGI3 teeth typically manifest multiple periapical radiolucencies. DGI3 is not associated with osteogenesis imperfecta.

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

Description from OMIM: 125500

Related Diseases for Dentinogenesis Imperfecta, Shields Type Iii

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

# Related Disease Score Top Affiliating Genes
1 dentinogenesis imperfecta type 3 11.5

Symptoms & Phenotypes for Dentinogenesis Imperfecta, Shields Type Iii

Human phenotypes related to Dentinogenesis Imperfecta, Shields Type Iii:

33
# Description HPO Frequency HPO Source Accession
1 dentinogenesis imperfecta 33 HP:0000703
2 shell teeth 33 HP:0000694
3 periapical bone loss 33 HP:0000700

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
periapical radiolucencies
primary and secondary teeth affected
amber-opalescent colored teeth (primary and secondary)
marked attrition (primary and secondary)
enamel pitting (secondary)
more
Head And Neck Mouth:
anterior openbite

Clinical features from OMIM:

125500

Drugs & Therapeutics for Dentinogenesis Imperfecta, Shields Type Iii

Search Clinical Trials , NIH Clinical Center for Dentinogenesis Imperfecta, Shields Type Iii

Genetic Tests for Dentinogenesis Imperfecta, Shields Type Iii

Genetic tests related to Dentinogenesis Imperfecta, Shields Type Iii:

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

Anatomical Context for Dentinogenesis Imperfecta, Shields Type Iii

MalaCards organs/tissues related to Dentinogenesis Imperfecta, Shields Type Iii:

42
Bone

Publications for Dentinogenesis Imperfecta, Shields Type Iii

Variations for Dentinogenesis Imperfecta, Shields Type Iii

UniProtKB/Swiss-Prot genetic disease variations for Dentinogenesis Imperfecta, Shields Type Iii:

76
# Symbol AA change Variation ID SNP ID
1 DSPP p.Val18Phe VAR_012281 rs121912987
2 DSPP p.Pro17Leu VAR_070252

ClinVar genetic disease variations for Dentinogenesis Imperfecta, Shields Type Iii:

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, Shields Type Iii

Search GEO for disease gene expression data for Dentinogenesis Imperfecta, Shields Type Iii.

Pathways for Dentinogenesis Imperfecta, Shields Type Iii

GO Terms for Dentinogenesis Imperfecta, Shields Type Iii

Sources for Dentinogenesis Imperfecta, Shields Type Iii

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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