Amelogenesis Imperfecta (AI)

Alias:
Ai - [amelogenesis Imperfecta]
Congenital Enamel Hypoplasia
Ai
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Amelogenesis Imperfecta, also known as ai - [amelogenesis imperfecta], is related to amelogenesis imperfecta, type iiia and amelogenesis imperfecta, type ie. An important gene associated with Amelogenesis Imperfecta is AMELX (Amelogenin X-Linked), and among its related pathways/superpathways is Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). The drug Salicylic acid has been mentioned in the context of this disorder. Affiliated tissues include Tooth, bone and kidney, and related phenotypes are abnormality of dental color and yellow-brown discoloration of the teeth
Related ID:
MESH:D000567
ICD11:1923123066

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLR
AR
AD
XL
Newborn
1-9/100000
115
1259
2

Medical Symptom

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

Gene & Mutation

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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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