TANGO2 Research Foundation
Cycle 1
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 04/30/2025
Clinical
Disease Class
Genetic diseases
Neurological diseases
Body Systems
Digestive
Endocrine
Metabolic
Muscular / Skeletal
Nervous / Sensory
Reproductive
Organs
Brain
Eyes
Heart
Intestines
Thyroid
Known Genetic Link
Yes, there are both genes that cause the condition and genetic factors that contribute
causative_genes
TANGO2
contributory_genes
TANGO2
Type of Inheritance
Autosomal recessive
Newborn Screening
No
Disease Mechanism(s)
Unknown
Age of Onset
Early childhood (age 1+-5)
Average Age at Diagnosis
Early childhood (age 1+-5)
Middle childhood (6-11)
Life Expectancy
Adulthood (age 18-64)
Affected Sex(es)
Female
Male
National Prevalence
101-1000
Global Prevalence
1001-10000
National Incidence
Less than 10
Global Incidence
11-50
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) Increased prevalence in the Other category was due to the TANGO2 variant called GLY154Arg variant
Symptoms / Phenotypes
balance problems
cardiac abnormalities
developmental delay
hyperammonemia
hyperlacticacidemia / lactic acidosis
hypoglycemia
hypothyroidism
seizures / epilepsy
transaminitis / elevated hepatic transaminase
Biomarkers
None
Existing Therapies
Complementary and Alternative treatments
· B5 (Pantothenic Acid): Crucial for preventing metabolic crises, improving energy, and reducing TDD spells. B9: Corrects heart arrhythmias in TANGO2 models. Other B vitamins’ roles are still under investigation. TDD Clinical Advisory Board Recommendation: Multivitamin/B complex with all 8 B vitamins at least at the RDA levels.
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
Cell Lines, Institution
Baylor College of Medicine
Texas Childrens Hospital
Cell Lines, Involvement
Funded
Cell Lines, share
All our cell lines are freely available
Disease Model
C. elegans
Drosophila/fly
Mouse
Zebrafish
Disease Model, Involvement
Funded
Disease Model, share
All our disease models are freely available
Clinical Trial Role
Not involved
Biobank, Institution
Baylor College of Medicine
Biobank, Involvement
Funded
Center of Excellence, Institution
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
Yes, we have guidance available on our website
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
North America