Proteasome-Associated Autoinflammatory Syndrome 3 (PRAAS3)

Alias:
Proteasome-Associated Autoinflammatory Syndrome 3, Digenic
Praas3
Proteasome-Associated Autoinflammatory Syndrome 3 and Digenic Forms
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Proteasome-Associated Autoinflammatory Syndrome 3, also known as praas3, is related to proteasome-associated autoinflammatory syndrome 1 and proteasome-associated autoinflammatory syndrome. An important gene associated with Proteasome-Associated Autoinflammatory Syndrome 3 is PSMB4 (Proteasome 20S Subunit Beta 4), and among its related pathways/superpathways are Assembly of the pre-replicative complex and PIP3 activates AKT signaling. Affiliated tissues include bone marrow and skin, and related phenotypes are failure to thrive and splenomegaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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2
8
2

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
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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MGI
Related Gene
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Publications
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References Literature

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IF
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