Osteogenesis Imperfecta, Type Iv (OI4)

Alias:
Osteogenesis Imperfecta Type 4
Osteogenesis Imperfecta Type Iv
Oi, Type Iv
Oi4
Osteogenesis Imperfecta with Normal Sclerae
Oi Type 4
Osteogenesis Imperfecta with Normal Sclerae, Dominant Form
Osteogenesis Imperfecta with Normal Sclera
Osteogenesis Imperfecta 4
Oi Type Iv
Oi-Iv
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osteogenesis Imperfecta, Type Iv, also known as osteogenesis imperfecta type 4, is related to osteogenesis imperfecta, type viii and osteogenesis imperfecta, type v. An important gene associated with Osteogenesis Imperfecta, Type Iv is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Extracellular matrix organization and ECM proteoglycans. 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 blue sclerae and scoliosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
1-9/100000
33
442
62

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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