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MCID: INF173
MIFTS: 11
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Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy
Categories:
Genetic diseases, Immune diseases
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Aliases & Classifications for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy
MalaCards integrated aliases for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:
Name: Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy
58
6
Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
onset in early infancy early death may occur three patients from 2 unrelated families have been reported (last curated december 2018) Classifications: |
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MalaCards based summary
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Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy, is also known as ibdimde. An important gene associated with Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy is TGFB1 (Transforming Growth Factor Beta 1). Affiliated tissues include t cells.
Description from OMIM:
618213
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Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:618213 |
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MalaCards organs/tissues related to Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:42
T Cells
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Genes related to Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:6
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Search
GEO
for disease gene expression data for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy.
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