IBDIMDE
MCID: INF173
MIFTS: 21
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Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy (IBDIMDE)
Categories:
Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy
MalaCards integrated aliases for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:
Characteristics:OMIM:56
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) HPO:31
inflammatory bowel disease, immunodeficiency, and encephalopathy:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Immune diseases |
UniProtKB/Swiss-Prot :
73
Inflammatory bowel disease, immunodeficiency, and encephalopathy: An autosomal recessive disorder characterized by severe infantile inflammatory bowel disease manifesting as bloody diarrhea and failure to thrive, global developmental delay, epilepsy, brain atrophy and encephalopathy. Affected individuals suffer from recurrent infections associated with impaired T-cell response to stimulation and decreased T-cell subsets, including regulatory and helper T cells.
MalaCards based summary : 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, brain and skin, and related phenotypes are global developmental delay and recurrent respiratory infections
More information from OMIM:
618213
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Human phenotypes related to Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:31 (show all 13)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618213 |
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MalaCards organs/tissues related to Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:40
T Cells,
Brain,
Skin
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Articles related to Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:
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ClinVar genetic disease variations for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:6
UniProtKB/Swiss-Prot genetic disease variations for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:73
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Search
GEO
for disease gene expression data for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy.
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