ICF Syndrome

About the Disease
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, also known as icf syndrome, is related to immunodeficiency-centromeric instability-facial anomalies syndrome 2 and immunodeficiency-centromeric instability-facial anomalies syndrome 1, and has symptoms including diarrhea An important gene associated with Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome is DNMT3B (DNA Methyltransferase 3 Beta), and among its related pathways/superpathways are One-carbon metabolism and related pathways and Chromatin Regulation / Acetylation. Affiliated tissues include b cells, tongue and bone marrow, and related phenotypes are recurrent respiratory infections and short stature

Common Targets
MAEL | IL7R | REC114 | ADAM2 | ZNF597 | ZBTB24 | DNMT3B | HELLS | MIR521-2 | MIR518D | NDN | TDRD6 | CDCA7 | SPO11 | DRD3 | NRXN3 | SNORD115-14

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