TANGO2-related metabolic encephalopathy and arrythmias

Term ID

DOID:0081386

Synonyms

• metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
• TANGO2 deficiency

Definition

A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11. (2)

References

• GARD:13423
• MIM:616878
• ORDO:480864

Ontology

Human Disease   ( DOID:0081386 )