TANGO2 related disease: systemic features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
TANGO2 related disease: systemic features. Optic atrophy, Cortical visual impairment, Nystagmus, Amblyopia. Fully referenced neurology checklist.
Ophthalmic features
- Optic atrophy
- Cortical visual impairment
- Nystagmus
- Amblyopia
- Dysconjugate gaze
Cardiac features
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Metabolic features
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Other features
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Acronym
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References
- Dines JN, Golden-Grant K, LaCroix A, et al. TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. Genet Med 2019; 21:601-607.
- Milev MP, Saint-Dic D, Zardoui K, et al. The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria. J Inherit Metab Dis 2021; 44:426-437.
- Gomes SA, Laranjo S, Trigo C, Pinto FF. The TANGO2 disease and the therapeutic challenge of acute arrhythmia management: a case report. Eur Heart J Case Rep 2023; 7:ytad044.
- Frey J, Burns MR, Chiu SY, et al. TANGO2 mutation: a genetic cause of multifocal combined dystonia. Mov Disord Clin Pract 2022; 9:380-382.
- Dias JV, Carvalho AA, Freixo JP, et al. TANGO2 deficiency disorder: two cases of developmental delay preceding metabolic crisis. Pediatr Neurol 2023; 147:52-55.
