Sclerosteosis 1 (SOST1)

Alias:
Sost1
Cortical Hyperostosis with Syndactyly
Sclerosteosis
Sost
Cortical Hyperostosis Syndactyly
Sclerosteosis, Type 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Sclerosteosis 1, also known as sost1, is related to van buchem disease and craniodiaphyseal dysplasia, and has symptoms including unspecified visual loss An important gene associated with Sclerosteosis 1 is SOST (Sclerostin), and among its related pathways/superpathways are Vitamin D receptor pathway and RUNX2 regulates bone development. The drug Diphosphonates has been mentioned in the context of this disorder. Affiliated tissues include bone and medulla oblongata, and related phenotypes are frontal bossing and large face
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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12
89
21

Medical Symptom

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Description
HPO Frequency
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No data available

Gene & Mutation

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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