Timothy Syndrome (TS)

Timothy Syndrome, also known as long qt syndrome with syndactyly, is related to long qt syndrome 8 and atrioventricular block. An important gene associated with Timothy Syndrome is CACNA1C (Calcium Voltage-Gated Channel Subunit Alpha1 C), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and CREB Pathway. Affiliated tissues include heart and skin, and related phenotypes are pneumonia and bronchitis