CACNA1C-related disorders
id:
cacna1c-related-disorders-318-11784616
title:
CACNA1C-related disorders
text:
CACNA1C-related disorders are a group of rare diseases caused by variants in the CACNA1C gene, which encodes a subunit of the L-type voltage-dependent calcium channel. Genomic sequencing has linked a number of heterogenous phenotypes to pathogenic variants in the CACNA1C gene: Timothy syndrome, which may or may not occur with syndactyly
Short QT syndrome or Brugada syndrome
Long QT syndrome or other arrhythmia without additional symptoms. CACNA1C-related disorders are inherited in an autosomal d
brand slug:
wiki
category slug:
encyclopedia
description:
Genetic disorders
original url:
https://en.wikipedia.org/wiki/CACNA1C-related_disorders
date created:
date modified:
2023-10-30T01:21:07Z
main entity:
{"identifier":"Q115879957","url":"https://www.wikidata.org/entity/Q115879957"}
image:
fields total:
13
integrity:
14