Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy (IBDIMDE)

Alias:
Ibdimde
Infantile Inflammatory Bowel Disease with Neurological Involvement
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy, also known as ibdimde, is related to immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome and inflammatory bowel disease 25, autosomal recessive. An important gene associated with Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy is TGFB1 (Transforming Growth Factor Beta 1). Affiliated tissues include t cells and brain, and related phenotypes are cerebral atrophy and bloody diarrhea
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
1
16
1

Medical Symptom

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

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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

References Literature

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PMID
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IF
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