MCID: TNG012
MIFTS: 24

Tango2-Related Metabolic Encephalopathy and Arrhythmias

Categories: Metabolic diseases, Nephrological 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 25 20
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome 20
Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 20
Tango2-Related Disorder 6
Tango2 Related Disease 20
Tango2 20

Characteristics:

GeneReviews:

25
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

GARD : 20 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 cardiac arrhythmia and disease of mental health. An important gene associated with Tango2-Related Metabolic Encephalopathy and Arrhythmias is TANGO2 (Transport And Golgi Organization 2 Homolog). Affiliated tissues include brain, and related phenotypes are intellectual disability and elevated serum creatine kinase

Wikipedia : 73 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

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

Human phenotypes related to Tango2-Related Metabolic Encephalopathy and Arrhythmias:

31 (show all 45)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 hallmark (90%) HP:0001249
2 elevated serum creatine kinase 31 hallmark (90%) HP:0003236
3 emg: myopathic abnormalities 31 hallmark (90%) HP:0003458
4 increased serum lactate 31 hallmark (90%) HP:0002151
5 ketonuria 31 hallmark (90%) HP:0002919
6 ataxia 31 frequent (33%) HP:0001251
7 developmental regression 31 frequent (33%) HP:0002376
8 delayed speech and language development 31 frequent (33%) HP:0000750
9 feeding difficulties in infancy 31 frequent (33%) HP:0008872
10 elevated hepatic transaminase 31 frequent (33%) HP:0002910
11 prolonged qt interval 31 frequent (33%) HP:0001657
12 arrhythmia 31 frequent (33%) HP:0011675
13 abnormality of extrapyramidal motor function 31 frequent (33%) HP:0002071
14 hyperammonemia 31 frequent (33%) HP:0001987
15 moderate global developmental delay 31 frequent (33%) HP:0011343
16 lactic acidosis 31 frequent (33%) HP:0003128
17 gastrointestinal dysmotility 31 frequent (33%) HP:0002579
18 acute rhabdomyolysis 31 frequent (33%) HP:0008942
19 incoordination 31 frequent (33%) HP:0002311
20 global brain atrophy 31 frequent (33%) HP:0002283
21 delayed ability to walk 31 frequent (33%) HP:0031936
22 compensated hypothyroidism 31 frequent (33%) HP:0008223
23 clonus 31 occasional (7.5%) HP:0002169
24 nystagmus 31 occasional (7.5%) HP:0000639
25 dysphagia 31 occasional (7.5%) HP:0002015
26 optic atrophy 31 occasional (7.5%) HP:0000648
27 hypertonia 31 occasional (7.5%) HP:0001276
28 amblyopia 31 occasional (7.5%) HP:0000646
29 stroke 31 occasional (7.5%) HP:0001297
30 dystonia 31 occasional (7.5%) HP:0001332
31 severe global developmental delay 31 occasional (7.5%) HP:0011344
32 infantile spasms 31 occasional (7.5%) HP:0012469
33 babinski sign 31 occasional (7.5%) HP:0003487
34 focal impaired awareness seizure 31 occasional (7.5%) HP:0002384
35 mild global developmental delay 31 occasional (7.5%) HP:0011342
36 cerebral visual impairment 31 occasional (7.5%) HP:0100704
37 supranuclear gaze palsy 31 occasional (7.5%) HP:0000605
38 hypoglycemic seizures 31 occasional (7.5%) HP:0002173
39 multifocal seizures 31 occasional (7.5%) HP:0031165
40 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
41 generalized tonic seizure 31 occasional (7.5%) HP:0010818
42 generalized myoclonic seizure 31 occasional (7.5%) HP:0002123
43 elevated circulating acylcarnitine concentration 31 occasional (7.5%) HP:0045045
44 microcephaly 31 very rare (1%) HP:0000252
45 sensorineural hearing impairment 31 very rare (1%) HP:0000407

Drugs & Therapeutics for Tango2-Related Metabolic Encephalopathy and Arrhythmias

Search Clinical Trials , 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:

40
Brain

Publications for Tango2-Related Metabolic Encephalopathy and Arrhythmias

Articles related to Tango2-Related Metabolic Encephalopathy and Arrhythmias:

# Title Authors PMID Year
1
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. 61 25
30245509 2019
2
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 25
26805781 2016
3
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. 25
26805782 2016
4
Rhabdomyolysis: a review, with emphasis on the pediatric population. 25
19529963 2010
5
TANGO2-Related Metabolic Encephalopathy and Arrhythmias 61
29369572 2018

Variations for Tango2-Related Metabolic Encephalopathy and Arrhythmias

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TANGO2 GRCh37/hg19 22q11.21(chr22:20030782-20052415)x0 copy number loss not provided 441071 GRCh37: 22:20030782-20052415
GRCh38:

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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