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 57 13 40
Dentinogenesis Imperfecta - Shield's Type Iii 29 6
Brandywine Type Dentinogenesis Imperfecta 57 75
Dentinogenesis Imperfecta, Shields Type 3 59 75
Dgi-Iii 57 55
Dentinogenesis Imperfecta Type 3 59
Dgi3 75

Characteristics:

Orphanet epidemiological data:

59
dentinogenesis imperfecta type 3
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
occurs in a southern maryland tri-racial inbred population known as the "brandywine isolate"
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, shields type iii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare odontological diseases


External Ids:

OMIM 57 125500
Orphanet 59 ORPHA166265
UMLS via Orphanet 74 C0399378
ICD10 via Orphanet 34 K00.5
MedGen 42 C0399378
MeSH 44 D003811

Summaries for Dentinogenesis Imperfecta, Shields Type Iii

UniProtKB/Swiss-Prot : 75 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 shell teeth and periapical bone loss

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 11.3

Symptoms & Phenotypes for Dentinogenesis Imperfecta, Shields Type Iii

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
anterior openbite

Head And Neck Teeth:
primary and secondary teeth affected
amber-opalescent colored teeth (primary and secondary)
marked attrition (primary and secondary)
enamel pitting (secondary)
normal-to-enlarged pulp chamber (primary)
more

Clinical features from OMIM:

125500

Human phenotypes related to Dentinogenesis Imperfecta, Shields Type Iii:

32
# Description HPO Frequency HPO Source Accession
1 shell teeth 32 HP:0000694
2 periapical bone loss 32 HP:0000700
3 dentinogenesis imperfecta 32 HP:0000703

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 29 DSPP

Anatomical Context for Dentinogenesis Imperfecta, Shields Type Iii

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

41
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:

75
# 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 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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