Incontinentia Pigmenti
Incontinentia Pigmenti
About the Disease
Incontinentia Pigmenti, also known as bloch-sulzberger syndrome, is related to skin disease and anodontia, and has symptoms including muscle spasticity and seizures. An important gene associated with Incontinentia Pigmenti is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma), and among its related pathways/superpathways are Innate Immune System and Signal Transduction. Affiliated tissues include skin, eye and cortex, and related phenotypes are telangiectasia of the skin and hypopigmented skin patches
Common Targets
MTHFR | MTRR | IKBKG | MMAB | CPT2 | ACACB | G2475 | CUBN | MED13L
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