Hyper Ige Syndrome

Alias:
Hyper-Ige Syndrome
Hyper Immunoglobulin E Syndrome
Hartnup Disease
Job Syndrome
Hyper Ige
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hyper Ige Syndrome, also known as hyper-ige syndrome, is related to combined immunodeficiency due to dock8 deficiency and immunodeficiency 35, and has symptoms including seizures An important gene associated with Hyper Ige Syndrome is STAT3 (Signal Transducer And Activator Of Transcription 3), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Posaconazole and Cytochrome P-450 Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin and lung, and related phenotypes are homeostasis/metabolism and growth/size/body region
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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45
599
12

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
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References Literature

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IF
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