Disease Information for Timothy Calcium channel anomaly

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Clinical Manifestations
Signs & Symptoms
Webbed fingers
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Mental Deficiency Child
Slow Motor Development
Sudden death of an infant
Clinical Presentation & Variations
Presentation/Child Autism Syndactyly Arrhythmias
Diagnostic Test Results
EKG (ECG)
EKG/Prolonged QT interval (ECG)
Associated Diseases & Rule outs
Associated Disease & Complications
Autism
Cardiac arrest
Cardiac arrhythmias
Congenital anomalies
Congenital heart disease
Hypoglycemia
Hypoglycemia, infantile
Limb deformities/anomalies
Mental retardation
Sudden death/Child
Syndactyly/Webbing
Hand anomalies
Disease Mechanism & Classification
Pathophysiology
Pathophysiology/Calcium channel gate defect all cells
Pathophysiology/Maternal Chromosome mutation
Pathophysiology/Immune physiology/defective
Pathophysiology/Mutation CACNA1C Calcium channel gene
Process
PROCESS/Congenital/developmental (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary Multiple anomalies syndrome [EX]
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/INCIDENCE/Rare disease (ex)
Definition

Timothy syndrome: A childhood disorder characterized by severe cardiac arrhythmia, syndactyly (webbing) of the fingers and toes, congenital heart disease, intermittent hypoglycemia (low blood sugar), cognitive abnormalities and autism; The syndrome is due to spontaneous mutation in the gene for the CaV1-2 calcium channel, a pore-like protein that nestles in the cell membrane and controls the flow of calcium into and out of the cell;

---------- [medicineNet-com website 2005]-------------------Timothy syndrome (TS) is a rare genetic disorder characterized by a spectrum of problems that include an abnormally prolonged cardiac "repolarization" time (long QT interval); The prolonged repolarization time predisposes individuals to abnormal heart rhythms (arrhythmias), cardiac arrest and sudden death; Other problems included in the TS spectrum are webbing of fingers and/or toes (syndactyly); structural heart abnormalities present at birth (congenital); a weakened immune system; developmental delays and autism; Despite the complexity of health concerns, this syndrome arises from a single, spontaneous mutation in the Ca(v)1-2 Calcium Channel gene called CACNA1C; Multiple body systems are affected by this mutation due to impairment of a very fundamental cell ion channel, found in most tissues and organs, which controls the amount of calcium entering a cell; As a result of this mutation, the ion channel gating closure is affected and cells are overwhelmed by a continuous influx of calcium; The affected gene is active (expressed) in cardiac muscle cells as well as tissues of the gastrointestinal system, lungs, immune system, smooth muscle, testes, and brain, including regions of the brain that are associated with abnormalities observed in autism-----[NORD website 2005]---------

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External Links Related to Timothy Calcium channel anomaly
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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