Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome

Alias:
Nfat5 Haploinsufficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome, also known as nfat5 haploinsufficiency, is related to immune deficiency disease and autoimmune disease. An important gene associated with Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome is NFAT5 (Nuclear Factor Of Activated T Cells 5). Affiliated tissues include bone marrow and bone.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Infant
<1/1000000
1
11
--

Medical Symptom

#
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

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
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