Timothy Syndrome Alliance (TSA)
Cycle 3
Timothy Syndrome (TS) is a rare, genetic condition caused by specific changes to a gene called CACNA1C.
Last updated 04/30/2025
Clinical
Disease Class
Channelopathies
Body Systems
Cardiovascular / Circulatory
Digestive
Endocrine
Hematopoietic / Lymphatic / Immune
Integumentary / Exocrine
Metabolic
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Respiratory
Organs
Arteries
Brain
Ears
Eyes
Heart
Intestines
Kidneys
Mouth / teeth
Muscles
Nerves
Pancreas
Pituitary glands
Stomach
Known Genetic Link
Yes, one or more genes directly cause the condition
causative_genes
CACNA1C
contributory_genes
None specified / unknown
Type of Inheritance
Autosomal dominant
De novo
Newborn Screening
No
Disease Mechanism(s)
Abnormal channel conductance
Abnormal channel regulation
Altered channel kinetics
Pathogenic mutation
Age of Onset
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Elderly (age 65+)
Infancy (age 0-1)
Middle childhood (6-11)
Prebirth
Average Age at Diagnosis
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Infancy (age 0-1)
Middle childhood (6-11)
Life Expectancy
Early childhood (age 1+-5)
Middle childhood (6-11)
Affected Sex(es)
Female
Male
National Prevalence
11-50
Global Prevalence
101-1000
National Incidence
Unknown
Global Incidence
Unknown
Symptoms / Phenotypes
abnormal heart morphology
anxiety
attention disorders / ADHD
autism
behavioral changes
cardiac abnormalities
craniofacial abnormalities
developmental delay
dysphagia
fainting / syncope
gastrointestinal disorders
hip dysplasia
hypoglycemia
hypotonia
immune deficiency / immunodeficiency
intellectual delay / global developmental delay
movement disorders / ataxia / tremor
obsessive compulsive disorder (OCD)
seizures / epilepsy
self-injurious behavior
speech problems / apraxia
sudden cardiac death
syndactyly
temperature instability
vision problems
Biomarkers
Diagnostic
· Clinical diagnosis Neurological exam Genetic test Electrophysiological test
Existing Therapies
None
Organizational & Research
Cell Lines
iPSCs
Cell Lines, Institution
Cardiff University
Stanford University
Cell Lines, Involvement
Consulted
Cell Lines, share
Unsure
Disease Model
None
Disease Model, share
N/A
Clinical Trial Role
Not involved
Biobank, Institution
None
Center of Excellence, Institution
None
Registry
Yes, we have a registry that we created
Data Collected, Registry
Genetic data
Longitudinal natural history data
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
Pulse InfoFrame
Natural History Study
No, we do not have a natural history study, but we plan to create or collaborate on one
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
We are working on obtaining an ICD-11 code
Diagnostic Guidelines
In the process of developing accredited guidelines
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN but no policies
Research Roadmap
We don't have a Research Roadmap
International Chapters
None
International Partners
None