Rare Pediatrics News

Disease Profile

TANGO2-Related Metabolic Encephalopathy and Arrhythmias

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration; TANGO2; Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome;

Categories

Congenital and Genetic Diseases; Heart Diseases; Nervous System Diseases

Summary

TANGO2related metabolic encephalopathy and arrhythmias is a disease that can cause episodes of metabolic crises and abnormal heart rhythms (arrhythmia). A metabolic crisis is caused by having low blood sugar (hypoglycemia) and the buildup of toxic products in the blood. A metabolic crisis can occur in any person with a metabolic disorder, and they are more likely to occur after a person has gone long periods without eating or during an illness. Most people with TANGO2-related metabolic encephalopathy and arrhythmias present with symptoms of a breakdown of muscle tissue (rhabdomyolysis). This can cause kidney damage and symptoms include fatigue, muscle weakness, and having a dark color of the urine. Other symptoms of TANGO2-related metabolic encephalopathy and arrhythmias include developmental delay, intellectual disability, seizures, hearing loss, low thyroid function (hypothyroidism) and trouble coordinating movements (ataxia).[1] Signs and symptoms of the disease are most likely to first occur during infancy or early childhood.[2] The disease is most common in people who are of Caucasian or Hispanic/Latino descent.[3]

TANGO2-related metabolic encephalopathy and arrhythmias is caused by a genetic change (mutation or pathogenic variant) in the TANGO2 gene. The disease is inherited in an autosomal recessive manner. The disease may be suspected in people who have a metabolic crisis, episodes of rhabdomyolysis, and arrhythmias. The diagnosis can be confirmed with genetic testing. Treatment of the disease is focused on avoiding metabolic crisis by avoiding fasting or illness. If a metabolic crisis does occur, it is important to have a plan in place so that proper treatment can occur. Other symptoms of the disease may be managed with therapies and medications.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase

[ more ]

0003236
EMG: myopathic abnormalities
0003458
Increased serum lactate
0002151
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Ketonuria
0002919
30%-79% of people have these symptoms
Abnormality of extrapyramidal motor function
0002071
Acute rhabdomyolysis
0008942
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat

[ more ]

0011675
Ataxia
0001251
Compensated hypothyroidism
0008223
Delayed ability to walk
0031936
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay

[ more ]

0000750
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Elevated hepatic transaminase
High liver enzymes
0002910
Feeding difficulties in infancy
0008872
Gastrointestinal dysmotility
0002579
Global brain atrophy
Generalized brain degeneration
0002283
Hyperammonemia
High blood ammonia levels
0001987
Incoordination
Difficulties in coordination
Incoordination of limb movements
Limb incoordination

[ more ]

0002311
Lactic acidosis
Increased lactate in body
0003128
Moderate global developmental delay
0011343
Prolonged QT interval
0001657
5%-29% of people have these symptoms
Amblyopia
Lazy eye
Wandering eye

[ more ]

0000646
Babinski sign
0003487
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Cerebral visual impairment
0100704
Clonus
0002169
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Dystonia
0001332
Elevated plasma acylcarnitine levels
0045045
Focal impaired awareness seizure
0002384
Generalized myoclonic seizure
0002123
Generalized tonic seizure
0010818
Hypertonia
0001276
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Hypoglycemic seizures
0002173
Infantile spasms
0012469
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Mild global developmental delay
0011342
Multifocal seizures
0031165
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic atrophy
0000648
Premature pubarche
Premature pubic hair growth
0012411
Premature thelarche
Premature breast development
0010314
Sensorineural hearing impairment
0000407
Severe global developmental delay
0011344
Spastic diplegia
0001264
Spastic tetraplegia
0002510
Stroke
0001297
Supranuclear gaze palsy
0000605
1%-4% of people have these symptoms
Global developmental delay
0001263
Hypoglycemia
Low blood sugar
0001943
Prolonged QTc interval
0005184
Seizure
0001250
Torsade de pointes
0001664
Ventricular tachycardia
0004756
Percent of people who have these symptoms is not available through HPO
Absent speech
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal

[ more ]

0001344
Autosomal recessive inheritance
0000007
Cardiac arrest
Heart stops beating

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

    Selected Full-Text Journal Articles

      References

      1. Lalani SR, Graham B, Burrage L, Lai YC, Scaglia F, Miyake C, and Yang Y. TANGO2-Related Metabolic Encephalopathy and Arrhythmias. GeneReviews. January 25, 2018; https://www.ncbi.nlm.nih.gov/books/NBK476443/.
      2. Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome. Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864. Accessed 3/16/2018.
      3. Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, et al. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. American Journal of Human Genetics. February 4, 2016; 98(2):347-357. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746334/.

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