Autosomal Dominant Wolfram Syndrome

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Autosomal Dominant Wolfram Syndrome is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and wolfram syndrome. An important gene associated with Autosomal Dominant Wolfram Syndrome is SPTBN5 (Spectrin Beta, Non-Erythrocytic 5), and among its related pathways/superpathways are RAF/MAP kinase cascade and Vesicle-mediated transport. Related phenotypes are Negative genetic interaction between MUS81-/- and MUS81+/+ and Increased epidermal growth factor receptor (EGFR) surface abundance

Related ID：

MALACARDS：ATS423