Tango2 Deficiency Disorder
TANGO2 Deficiency Disorder
TANGO2 deficiency disorder (TDD) is relatively newly identified, first being described in 2016. TANGO2 is a gene that resides in the 22q11.2 area of chromosome 22. TANGO2 stands for ‘transport and Golgi organization 2 homolog’.
Mutations/variations of the TANGO2 gene can result in several different problems in individuals affected, including metabolic crisis (low blood sugar, build-up of toxins in the blood) with rhabdomyolysis (when muscle tissue breaks down and releases fibers into the bloodstream), encephalopathy, intellectual/developmental disability, seizures, cardiac arrhythmias (abnormal heart rhythms), hearing loss, low thyroid function (hypothyroidism) and trouble coordinating movements (ataxia). Early detection and treatment are important as the complications experienced can be life-threatening.
TDD shares some common features of those who have 22q11.2 deletion syndrome, including developmental delay, hypothyroidism and seizures, however, it is a separate disorder.
For further information, you can visit:
NORD entry on TANGO2
TANGO2 Deficiency – GeneReviews® – NCBI Bookshelf
OMIM Entry 616830 TRANSPORT AND GOLGI ORGANIZATION 2 HOMOLOG; TANGO2
Genetic And Rare Diseases Info Center Entry on TANGO2 Deficiency
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Search PUBMED for articles on TANGO2
Select References
Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, J. L., Thies, J., Niyazov, D., Burton, B., Kim, K., Fleming, L., Westman, R., Karachunski, P., Dalton, J., Basinger, A., Ficicioglu, C., Helbig, I., … Mefford, H. C. (2019). TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 21(3), 601–607. https://doi.org/10.1038/s41436-018-0137-y
Meisner, J. and Ames, E. (2022). eP027: Screening for co-incident TANGO2 related metabolic encephalopathy and arrhythmia syndrome in 22q11 deletion syndrome, Genetics in Medicine, 24(3), S18. https://doi.org/10.1016/j.gim.2022.01.065. (https://www.sciencedirect.com/science/article/pii/S1098360022000818)
Owlett, L. D., Zapanta, B., Sandkuhler, S. E., Ames, E. G., Hickey, S. E., Mackenzie, S. J., & Meisner, J. K. (2024). Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome. American Journal of Medical Genetics. Part A, e63778. Advance online publication. https://doi.org/10.1002/ajmg.a.63778
Walters, B., McConkey, N., & Imundo, J. R. (2024). TANGO2: A Rare but Important Mutation. The Journal of Innovations in Cardiac Rhythm Management, 15(5), 5871–5875. https://doi.org/10.19102/icrm.2024.15054