Osteogenesis Imperfecta, Type Xix (OI19)

Alias:
Oi19
Osteogenesis Imperfecta Type Xix
Osteogenesis Imperfecta, Type 19
Osteogenesis Imperfecta Type 19
Osteogenesis Imperfecta 19
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osteogenesis Imperfecta, Type Xix, also known as oi19, is related to osteogenesis imperfecta, type xi and craniolenticulosutural dysplasia. An important gene associated with Osteogenesis Imperfecta, Type Xix is MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2), and among its related pathways/superpathways are Collagen chain trimerization and Extracellular matrix organization. Affiliated tissues include bone and skin, and related phenotypes are osteopenia and recurrent fractures
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Unknown
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9
48
1

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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