TANGO2 gene related symptoms and diseases

All the information presented here about the TANGO2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TANGO2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Ventricular fibrillation Very Common - Between 80% and 100% cases
Neurodegeneration Very Common - Between 80% and 100% cases
Metabolic acidosis Very Common - Between 80% and 100% cases
Abnormal cerebellum morphology Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TANGO2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Increased serum lactate
  • Spastic tetraplegia
  • Clonus
  • Cardiac arrest
  • Ventricular tachycardia
  • Drooling
  • Hyperammonemia
  • Oral-pharyngeal dysphagia

And 43 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to TANGO2 gene

Here you will find a list of rare diseases related to the TANGO2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME


Description

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.

Most common symptoms of RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


More info about RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for TANGO2 gene

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

TANGO2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TANGO2 gene.

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Metabolic Myopathy and Rhabdomyolysis Panel Panel

Finland.

By Blueprint Genetics Metabolic Myopathy and Rhabdomyolysis Panel that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TWNK TK2 LPIN1 SLC25A20 CAV3 RBCK1

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SLC25A38 CHD8

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more