Osteogenesis Imperfecta, Type Vi (OI6)

Alias:
Osteogenesis Imperfecta Type 6
Oi6
Osteogenesis Imperfecta Type Vi
Osteogenesis Imperfecta 6
Oi Type Vi
Oi-Vi
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osteogenesis Imperfecta, Type Vi, also known as osteogenesis imperfecta type 6, is related to osteogenesis imperfecta, type v and cystinosis. An important gene associated with Osteogenesis Imperfecta, Type Vi is SERPINF1 (Serpin Family F Member 1), and among its related pathways/superpathways are ECM proteoglycans and Clock-controlled autophagy in bone metabolism. Affiliated tissues include bone and endothelial, and related phenotypes are beaking of vertebral bodies and joint laxity
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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18
319
7

Medical Symptom

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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

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
Journal
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IF
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