Cardiology · Cardiology / Cardiac electrophysiology
Timothy syndrome
also: Long QT syndrome type 8 (syndromic)
Multisystem disorder with severe QT prolongation, syndactyly, congenital heart disease and autism.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Cardiac electrophysiology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, onset in infancy
- Gene(s) involved
- CACNA1C
- Alternative names & eponyms
- Long QT syndrome type 8 (syndromic)
Etiology & mechanism
Gain-of-function CACNA1C variants cause loss of voltage-dependent inactivation of the L-type calcium channel.
Gene(s) involved (1)
Symptoms & signs (10)
In plain terms, someone with Timothy syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Fetal valproate syndrome
developmental delay, facial dysmorphism
2 shared
Folate malabsorption syndrome
developmental delay, seizures
2 shared
Galloway–Mowat syndrome
developmental delay, seizures
2 shared
Hyperinsulinism–hyperammonemia syndrome
developmental delay, seizures
2 shared
Insulinoma-associated neurological syndrome
hypoglycemia, seizures
2 shared
NARP syndrome
developmental delay, seizures
2 shared
Phelan–McDermid syndrome
autism, developmental delay
2 shared
Reye syndrome
hypoglycemia, seizures
2 shared
Sotos syndrome
developmental delay, seizures
2 shared
Sturge–Weber syndrome
developmental delay, seizures
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