Tatton Brown Rahman Syndrome Community

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Tatton Brown Rahman Syndrome (TBRS) is a rare genetic disease caused by pathogenic variants in the DNMT3A gene (also called DNMT3A Overgrowth Syndrome). Individuals with TBRS have overgrowth—typically, tall stature, increased weight, and large head circumference (also known as macrocephaly)—mild to severe intellectual disability, and subtle but distinctive facial characteristics. The syndrome varies considerably in its severity.

Last updated May 2024

Clinical
Disease Class
Rare genetic diseases
Body Systems
Cardiovascular / Circulatory
Digestive
Endocrine
Hematopoietic / Lymphatic / Immune
Integumentary / Exocrine
Metabolic
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Reproductive
Respiratory
Organs
Bones
Brain
Heart
Muscles
Genes
DNMT3A
Type of Inheritance
Autosomal dominant
Disease Mechanism(s)
Enzyme deficiency
Epigenetic aberration
Pathogenic mutation
Age of Onset
Prebirth
Incidence
Unknown
Prevalence
101-1000
Symptoms / Phenotypes
autism
autistic behavior
behavioral changes
cancer / carcinoma / tumor / malignancy, unspecified
cardiac abnormalities
cryptorchidism
developmental delay
distinctive facial features
hyperlaxity / joint laxity
hypotonia
intellectual disability
macrocephaly
scoliosis / spinal curvature
seizures / epilepsy
tall stature
weight gain
Biomarkers
Diagnostic
· genetic test/DNMT3A variant
Existing Therapies
None
Organizational & Research
Cell Lines
Not specified / unknown
Cell Lines, location
Baylor College of Medicine
University of Montreal
Washington University
Cell Lines, share
No
Disease Model
Mouse
Disease Model, location
Baylor College of Medicine
Washington University
Disease Model, share
No
Clinical Trial Role
Not involved
Biobank
COMBINEDBrain
Center of Excellence
Washington University
Registry
Yes, we have a registry that we created
Data Collected, Registry
Clinical data
Genetic data
Imaging data
Longitudinal natural history data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
IAMRARE
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Genetic data
Imaging data
Medication usage
Prospective data
Retrospective data
Platform, Natural History Study
Ciitizen
IAMRARE
Matrix
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
We are working on obtaining an ICD-10 code
Diagnostic Guidelines
No
Clinical/Treatment Guidelines
No
Organizational Roles
Executive Director
Patient Engagement Manager/Director
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN and willing to share policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
Europe