Timothy syndrome


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Timothy syndrome

rare congenital disorder of calcium channel (MIM #601005) characterized by multiorgan abnormalities, long QT intervals, digital webbing, immune deficiency, cognitive deficiencies, autism, and death usually before age 3.

Timothy syndrome

rare congenital disorder of calcium channel (MIM #601005) characterized by multiorgan abnormalities, long QT intervals, digital webbing, immune deficiency, cognitive deficiencies, autism, and death usually before age 3.

Timothy syndrome

A disorder (OMIM:601005) characterised by multiorgan dysfunction including lethal cardiac arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycaemia, cognitive abnormalities and autism.

Molecular pathology
Defects of CACNA1C on chromosome 12p13.3, which encodes the alpha-1C subunit of a voltage-dependent N-type calcium channel, cause Timothy syndrome.
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References in periodicals archive ?
Compared to those from controls, fewer neurons from Timothy syndrome patients became neurons of the lower layers of the cortex and more became upper layer neurons.
Many of these defects were also seen in parallel studies of mice with the same genetic mutation found in Timothy syndrome patients.
Cardiac manifestations of Timothy syndrome include QT prolongation, torsades de pointes, and VF [10].