LQT16
MCID: LNG114
MIFTS: 22
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Long Qt Syndrome 16 (LQT16)
Categories:
Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
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MalaCards integrated aliases for Long Qt Syndrome 16:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
sudden death may occur cpvt6 is based on report of 1 family (last curated february 2020) fetal bradycardia may be detected (in lqt16 patients) onset at birth or neonatal period (in lqt16 patients) onset in childhood (in cpvt6 patients) structural cardiac defects have been reported in some lqt16 patients de novo mutation (in most lqt16 patients) somatic mosaicism in unaffected parents seen of some lqt16 patients has been reported HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Cardiovascular diseases Ear diseases Muscle diseases Blood diseases |
UniProtKB/Swiss-Prot :
73
Long QT syndrome 16: An autosomal dominant form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.
Ventricular tachycardia, catecholaminergic polymorphic, 6: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT6 inheritance is autosomal dominant. MalaCards based summary : Long Qt Syndrome 16, also known as ventricular tachycardia, catecholaminergic polymorphic, 6, is related to long qt syndrome 14 and long qt syndrome 15. An important gene associated with Long Qt Syndrome 16 is CALM3 (Calmodulin 3). Related phenotypes are perimembranous ventricular septal defect and bradycardia |
Diseases in the Long Qt Syndrome family:Diseases related to Long Qt Syndrome 16 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Long Qt Syndrome 16:31 (show all 6)
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Articles related to Long Qt Syndrome 16:
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ClinVar genetic disease variations for Long Qt Syndrome 16:6
UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 16:73
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Search
GEO
for disease gene expression data for Long Qt Syndrome 16.
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