CACNA1C-related disorders

Last updated June 20, 2025

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:^[1]

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.^[2]

CACNA1C-related disorders are inherited in an autosomal dominant manner.^[2] Symptoms of CACNA1C-related disorders are primarily neurological ^[3] and may include developmental delay, autism or autistic features, and seizures.^[1] Facial dysmorphism may also be present.^[4]

References

1 2 Levy, Rebecca J.; Timothy, Katherine W.; Underwood, Jack F.G.; Hall, Jeremy; Bernstein, Jonathan A.; Pașca, Sergiu P. (January 2023). "A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder" . Pediatric Neurology. 138: 101–106. doi:10.1016/j.pediatrneurol.2022.10.013. PMID 36436328.
1 2 Napolitano, Carlo; Timothy, Katherine W.; Bloise, Raffaella; Priori, Silvia G. (1993), Adam, Margaret P.; Everman, David B.; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "CACNA1C-Related Disorders", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301577 , retrieved 2022-12-12
↑ Rodan, Lance H.; Spillmann, Rebecca C.; Kurata, Harley T.; Lamothe, Shawn M.; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E.; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav (October 2021). "Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations". Genetics in Medicine. 23 (10): 1922–1932. doi:10.1038/s41436-021-01232-8. PMC 8488020 . PMID 34163037.
↑ Bauer, Rosemary; Timothy, Katherine W.; Golden, Andy (2021-05-17). "Update on the Molecular Genetics of Timothy Syndrome". Frontiers in Pediatrics. 9: 668546. doi: 10.3389/fped.2021.668546 . ISSN 2296-2360. PMC 8165229 . PMID 34079780.

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[:1-1] 1 2 Levy, Rebecca J.; Timothy, Katherine W.; Underwood, Jack F.G.; Hall, Jeremy; Bernstein, Jonathan A.; Pașca, Sergiu P. (January 2023). "A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder" . Pediatric Neurology. 138: 101–106. doi:10.1016/j.pediatrneurol.2022.10.013. PMID 36436328.

[:0-2] 1 2 Napolitano, Carlo; Timothy, Katherine W.; Bloise, Raffaella; Priori, Silvia G. (1993), Adam, Margaret P.; Everman, David B.; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "CACNA1C-Related Disorders", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301577 , retrieved 2022-12-12

[3] Rodan, Lance H.; Spillmann, Rebecca C.; Kurata, Harley T.; Lamothe, Shawn M.; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E.; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav (October 2021). "Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations". Genetics in Medicine. 23 (10): 1922–1932. doi:10.1038/s41436-021-01232-8. PMC 8488020 . PMID 34163037.

[4] Bauer, Rosemary; Timothy, Katherine W.; Golden, Andy (2021-05-17). "Update on the Molecular Genetics of Timothy Syndrome". Frontiers in Pediatrics. 9: 668546. doi: 10.3389/fped.2021.668546 . ISSN 2296-2360. PMC 8165229 . PMID 34079780.

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