TANGO2 Research Foundation

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TANGO2 deficiency disorder is a rare genetic disorder caused by variants in the TANGO2 gene. TANGO2 deficiency is characterized by developmental delay, intellectual disability, gait incoordination, speech difficulties, seizures, and hypothyroidism. Most individuals have TANGO2 spells, non-life-threatening paroxysmal worsening of baseline symptoms, including sudden onset of hypotonia, ataxia with loss of balance, head and body tilt, increased dysarthria, drooling, lethargy, and disorientation. In addition, life-threatening acute metabolic crises can occur, including rhabdomyolysis with elevated creatine phosphokinase and liver transaminases, hypoglycemia, prolonged QTc on EKG, ventricular arrhythmias, and/or cardiomyopathy.

Last updated May 2024

Clinical
Disease Class
Rare genetic diseases
Rare neurological diseases
Body Systems
Digestive
Endocrine
Metabolic
Muscular / Skeletal
Nervous / Sensory
Reproductive
Organs
Brain
Eyes
Heart
Intestines
Thyroid
Genes
TANGO2
Type of Inheritance
Autosomal recessive
Disease Mechanism(s)
Unknown
Age of Onset
Early childhood (age 1+-5)
Incidence
Less than 10
Prevalence
1001-10000
Populations and/or ancestry with higher prevalence
Notable subpopulation prevalence and carrier rates are as follows: Non-finnish European:1/450,007 (1/335) Other:1/522,069 (1/361) Latino:1/1,508,103 (1/614) African:1/28,72,738 (1/847)
Symptoms / Phenotypes
balance problems
cardiac abnormalities
developmental delay
hyperammonemia
hyperlacticacidemia / lactic acidosis
hypoglycemia
hypothyroidism
seizures / epilepsy
transaminitis / elevated hepatic transaminase
Biomarkers
None
Existing Therapies
Alternative treatments (eg. nutritional supplements)
· All patients with genetically confirmed TDD should take daily multivitamin or B-complex supplementation, inclusive of vitamins B5 and B9.
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
Cell Lines, location
Baylor College of Medicine
Cell Lines, share
Yes
Disease Model
C. elegans
Drosophila/fly
Mouse
Yeast
Zebrafish
Disease Model, location
Baylor College of Medicine
Brigham & Women's Hospital
Concordia University
University of Rochester
Disease Model, share
Yes
Clinical Trial Role
Not involved
Biobank
Baylor College of Medicine
Center of Excellence
None
Registry
Yes, we have collaborated on a registry
Data Collected, Registry
Patient contact info
Data Entered by, Registry
Patients
Platform, Registry
CoRDS
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Electronic health records/electronic medical records
Genetic data
Imaging data
Medication usage
Retrospective data
Platform, Natural History Study
Other
REDCap
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
In the process of creating clinical/treatment guidelines
Organizational Roles
Executive Director
Research/Scientific Director
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN but no policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
Europe
North America