Osteogenesis Imperfecta, Type Iii (OI3)

Alias:
Osteogenesis Imperfecta Type Iii
Osteogenesis Imperfecta Type 3
Oi, Type Iii
Oi3
Progressive Deforming Osteogenesis Imperfecta
Severe Osteogenesis Imperfecta
Oi Type 3
Osteogenesis Imperfecta, Progressively Deforming, with Normal Sclerae
Progressively Deforming Osteogenesis Imperfecta with Normal Sclerae
Progressively Deforming Osteogenesis Imperfecta with Normal Sclera
Osteogenesis Imperfecta 3
Oi Type Iii
Oi-Iii
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osteogenesis Imperfecta, Type Iii, also known as osteogenesis imperfecta type iii, is related to osteogenesis imperfecta, type vi and osteogenesis imperfecta, type xiv. An important gene associated with Osteogenesis Imperfecta, Type Iii is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Extracellular matrix organization. The drugs Zoledronic acid and Cholecalciferol have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are frontal bossing and scoliosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
1-9/1000000
39
478
59

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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