Dentinogenesis Imperfecta 1 (DGI1)

Alias:
Dentinogenesis Imperfecta Type 2
Capdepont Teeth
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta
Dentinogenesis Imperfecta, Shields Type 2
Opalescent Dentin
Dgi-Ii
Opalescent Teeth Without Osteogenesis Imperfecta
Dentinogenesis Imperfecta, Shields Type Ii
Dgi-2
Dgi1
Di-2
Dentinogenesis Imperfecta Shields Type Ii
Dentinogenesis Imperfecta, Shields Type I
Non-Syndromic Dentinogenesis Imperfecta
Non-Syndromic Dgi
Dgi2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dentinogenesis Imperfecta 1, also known as dentinogenesis imperfecta type 2, is related to dentin dysplasia and brittle bone disorder. An important gene associated with Dentinogenesis Imperfecta 1 is DSPP (Dentin Sialophosphoprotein), and among its related pathways/superpathways are Extracellular matrix organization and ECM proteoglycans. Affiliated tissues include bone and liver, and related phenotypes are dentinogenesis imperfecta and yellow-brown discoloration of the teeth
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
1-5/10000
2
19
21

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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