Osteogenesis Imperfecta, Type I (OI1)

Alias:
Osteogenesis Imperfecta Type 1
Osteogenesis Imperfecta Type I
Oi, Type I
Oi1
Osteogenesis Imperfecta with Blue Sclerae
Non-Deforming Osteogenesis Imperfecta
Osteogenesis Imperfecta Tarda
Mild Osteogenesis Imperfecta
Adair-Dighton Syndrome
Van Der Hoeve Syndrome
Oi Type 1
Osteopenic Non-Fracture Syndrome
Osteogenesis Imperfecta, Mild
Osteogenesis Imperfecta 1
Osteogenesis Imperfecta
Lobstein's Disease
Oi-I
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osteogenesis Imperfecta, Type I, also known as osteogenesis imperfecta type 1, is related to osteogenesis imperfecta, type vi and osteogenesis imperfecta, type xi. An important gene associated with Osteogenesis Imperfecta, Type I is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Extracellular matrix organization. The drugs Pamidronic acid and Alendronic acid have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are dentinogenesis imperfecta and hip dysplasia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
1-9/100000
32
387
337

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
No Data Found!
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