MCID: TNG012
MIFTS: 14

Tango2-Related Metabolic Encephalopathy and Arrhythmias

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Tango2-Related Metabolic Encephalopathy and Arrhythmias

MalaCards integrated aliases for Tango2-Related Metabolic Encephalopathy and Arrhythmias:

Name: Tango2-Related Metabolic Encephalopathy and Arrhythmias 24 53 6
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome 53
Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 53
Tango2-Related Disorder 6
Tango2 Related Disease 53
Tango2 53

Characteristics:

GeneReviews:

24
Penetrance To date, penetrance in those with tango2 pathogenic variants is 100%. there is known variable expressivity with this disorder...

Classifications:



Summaries for Tango2-Related Metabolic Encephalopathy and Arrhythmias

NIH Rare Diseases : 53 TANGO2-related 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). Signs and symptoms of the disease are most likely to first occur during infancy or early childhood. The disease is most common in people who are of Caucasian or Hispanic/Latino descent.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.

MalaCards based summary : Tango2-Related Metabolic Encephalopathy and Arrhythmias, also known as recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, is related to metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration and cardiac arrhythmia. An important gene associated with Tango2-Related Metabolic Encephalopathy and Arrhythmias is TANGO2 (Transport And Golgi Organization 2 Homolog). Affiliated tissues include kidney, heart and testes.

Wikipedia : 76 Transport and golgi organization 2 homolog (TANGO2) also known as chromosome 22 open reading frame 25... more...

GeneReviews: NBK476443

Related Diseases for Tango2-Related Metabolic Encephalopathy and Arrhythmias

Diseases related to Tango2-Related Metabolic Encephalopathy and Arrhythmias via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 13.1
2 cardiac arrhythmia 11.7
3 visual epilepsy 11.4
4 prostate cancer 10.1
5 polyglucosan body myopathy 1 with or without immunodeficiency 10.1
6 encephalopathy 10.1

Graphical network of the top 20 diseases related to Tango2-Related Metabolic Encephalopathy and Arrhythmias:



Diseases related to Tango2-Related Metabolic Encephalopathy and Arrhythmias

Symptoms & Phenotypes for Tango2-Related Metabolic Encephalopathy and Arrhythmias

Drugs & Therapeutics for Tango2-Related Metabolic Encephalopathy and Arrhythmias

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Compression Only-CPR Versus Standard-CPR - the Pilot Phase Recruiting NCT02401633 Not Applicable

Search NIH Clinical Center for Tango2-Related Metabolic Encephalopathy and Arrhythmias

Genetic Tests for Tango2-Related Metabolic Encephalopathy and Arrhythmias

Anatomical Context for Tango2-Related Metabolic Encephalopathy and Arrhythmias

MalaCards organs/tissues related to Tango2-Related Metabolic Encephalopathy and Arrhythmias:

41
Kidney, Heart, Testes, Thyroid, Prostate

Publications for Tango2-Related Metabolic Encephalopathy and Arrhythmias

Variations for Tango2-Related Metabolic Encephalopathy and Arrhythmias

ClinVar genetic disease variations for Tango2-Related Metabolic Encephalopathy and Arrhythmias:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 TANGO2 NM_152906.6(TANGO2): c.460G> A (p.Gly154Arg) single nucleotide variant Pathogenic rs752298579 GRCh37 Chromosome 22, 20049061: 20049061
2 TANGO2 NM_152906.6(TANGO2): c.460G> A (p.Gly154Arg) single nucleotide variant Pathogenic rs752298579 GRCh38 Chromosome 22, 20061538: 20061538
3 TANGO2 NM_152906.6(TANGO2): c.605+1G> A single nucleotide variant Pathogenic rs372949028 GRCh37 Chromosome 22, 20049207: 20049207
4 TANGO2 NM_152906.6(TANGO2): c.605+1G> A single nucleotide variant Pathogenic rs372949028 GRCh38 Chromosome 22, 20061684: 20061684
5 TANGO2 NM_152906.5(TANGO2): c.57-1743_*10769del deletion Pathogenic GRCh38 Chromosome 22, 20041612: 20075431
6 TANGO2 NM_152906.5(TANGO2): c.146-3605_451+2245del deletion Pathogenic GRCh38 Chromosome 22, 20048857: 20058261
7 TANGO2 NM_001283106.2(TANGO2): c.4delT (p.Cys2Alafs) deletion Pathogenic rs869320693 GRCh37 Chromosome 22, 20024325: 20024325
8 TANGO2 NM_001283106.2(TANGO2): c.4delT (p.Cys2Alafs) deletion Pathogenic rs869320693 GRCh38 Chromosome 22, 20036802: 20036802
9 TANGO2 NM_001283106.2(TANGO2): c.418C> T (p.Arg140Ter) single nucleotide variant Pathogenic rs764883927 GRCh37 Chromosome 22, 20043503: 20043503
10 TANGO2 NM_001283106.2(TANGO2): c.418C> T (p.Arg140Ter) single nucleotide variant Pathogenic rs764883927 GRCh38 Chromosome 22, 20055980: 20055980
11 TANGO2 GRCh37/hg19 22q11.21(chr22: 20030782-20052415)x0 copy number loss not provided GRCh37 Chromosome 22, 20030782: 20052415
12 TANGO2 NC_000022.10: g.20029135_20062954del33820 deletion Pathogenic GRCh37 Chromosome 22, 20029135: 20062954

Expression for Tango2-Related Metabolic Encephalopathy and Arrhythmias

Search GEO for disease gene expression data for Tango2-Related Metabolic Encephalopathy and Arrhythmias.

Pathways for Tango2-Related Metabolic Encephalopathy and Arrhythmias

GO Terms for Tango2-Related Metabolic Encephalopathy and Arrhythmias

Sources for Tango2-Related Metabolic Encephalopathy and Arrhythmias

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