Overlap of symptoms

A table displaying associations between CACNA genes and medical conditions. The first column lists CACNA genes: CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I, and CACNA1S. The top row lists medical conditions: Attention Deficit Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD), Cardiac conditions, Developmental delay/Intellectual disability, Epilepsy, Eye conditions and diseases, Hemiplegic Migraine, Hypertension, Hypoglycemia, Hypotonia, Immune dysfunction, and Movement disorders. Each cell in the table represents whether a gene is associated with a specific condition. A purple checkmark (✔) indicates an association, while an empty cell indicates no known association. CACNA1A is associated with Autism Spectrum Disorder, Epilepsy, Hemiplegic Migraine, and Hypotonia. CACNA1B is associated with Autism Spectrum Disorder and Epilepsy. CACNA1C is associated with Autism Spectrum Disorder, Developmental delay/Intellectual disability, and Epilepsy. CACNA1D is associated with Autism Spectrum Disorder, Developmental delay/Intellectual disability, Epilepsy, and Hypertension. CACNA1E is associated with Autism Spectrum Disorder and Epilepsy. CACNA1F is associated with Eye conditions and diseases. CACNA1G is associated with ADHD, Autism Spectrum Disorder, Epilepsy, and Movement disorders. CACNA1H is associated with ADHD, Autism Spectrum Disorder, Epilepsy, and Hypertension. CACNA1I is associated with Autism Spectrum Disorder and ADHD. CACNA1S is associated with Hypotonia and Immune dysfunction. This table visually presents the link between specific CACNA genes and various medical conditions to aid in understanding genetic associations.

State of play

A structured table displaying information about patient groups associated with CACNA genes. The table contains columns for: Gene name – Lists CACNA genes: CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I, and CACNA1S. Patient group status – Describes whether the group is a formal registered charity, a community group, or a non-profit organization. Geographic focus – Indicates whether the group has an international or USA-specific presence. Registry (participants) – Specifies whether the group maintains a patient registry (Yes/No). Scientific Advisory Board – Notes whether the group has an official scientific advisory board (Yes/No). Individuals in Support Group – Provides the number of individuals in the support community. If unavailable, it is marked "N". ClinVar P/LP (Pathogenic/Likely Pathogenic Variants) – Lists the number of pathogenic and likely pathogenic variants recorded in ClinVar. ClinVar VUS (Variants of Uncertain Significance) – Displays the number of variants of uncertain significance reported in ClinVar. This table provides a comprehensive look at patient-led and organizational support structures for CACNA-related conditions, highlighting differences in formal registration, scientific involvement, community size, and genetic research data.

Data current as at November 2024

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