MECRCN
MCID: MTB008
MIFTS: 42

Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration (MECRCN)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

MalaCards integrated aliases for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:

Name: Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 57 72 29 6
Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 57 72
Mecrcn 57 72
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome 58
Tango2-Related Metabolic Encephalopathy-Arrhythmia Syndrome 58
Rhabdomyolysis 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
metabolic encephalomyopathic crises often triggered by infection


HPO:

31
metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

OMIM® : 57 Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) is an autosomal recessive disorder characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system. Affected individuals usually present in childhood with acute encephalomyopathic features, including rhabdomyolysis, hypotonia, and neurologic regression, although most patients have delayed psychomotor development before the acute onset. The overall disease course is characterized by progressive neurodegeneration with epilepsy, cognitive impairment, pyramidal and cerebellar signs, and loss of expressive language. Cardiac involvement with severe arrhythmias is a consistent and potentially life-threatening manifestation (summary by Lalani et al., 2016 and Kremer et al., 2016). (616878) (Updated 20-May-2021)

MalaCards based summary : Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration, also known as metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, is related to tango2-related metabolic encephalopathy and arrhythmias, and has symptoms including muscle weakness, myalgia and generalized muscle weakness. An important gene associated with Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration is TANGO2 (Transport And Golgi Organization 2 Homolog). The drugs Sevoflurane and Propofol have been mentioned in the context of this disorder. Affiliated tissues include kidney, skeletal muscle and liver, and related phenotypes are microcephaly and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 72 Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration: An autosomal recessive disorder characterized by metabolic encephalomyopathic crises, hypoglycemia, hyperammonemia, episodic rhabdomyolysis, susceptibility to life-threatening cardiac tachyarrhythmias, developmental delay, mental retardation, and mild diffuse cerebral atrophy.

Related Diseases for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

Diseases related to Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tango2-related metabolic encephalopathy and arrhythmias 11.8

Symptoms & Phenotypes for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

Human phenotypes related to Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:

58 31 (show top 50) (show all 79)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000252
2 sensorineural hearing impairment 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000407
3 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
4 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
5 spastic tetraplegia 31 occasional (7.5%) HP:0002510
6 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
7 spastic diplegia 31 occasional (7.5%) HP:0001264
8 premature thelarche 31 occasional (7.5%) HP:0010314
9 premature pubarche 31 occasional (7.5%) HP:0012411
10 global developmental delay 58 31 very rare (1%) Very frequent (99-80%) HP:0001263
11 hypoglycemia 58 31 very rare (1%) Frequent (79-30%) HP:0001943
12 increased serum lactate 58 31 very rare (1%) Very frequent (99-80%) HP:0002151
13 hyperammonemia 58 31 very rare (1%) Frequent (79-30%) HP:0001987
14 ventricular tachycardia 31 very rare (1%) HP:0004756
15 prolonged qtc interval 31 very rare (1%) HP:0005184
16 torsade de pointes 31 very rare (1%) HP:0001664
17 seizure 31 very rare (1%) HP:0001250
18 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
19 clonus 58 31 Occasional (29-5%) HP:0002169
20 ataxia 58 31 Frequent (79-30%) HP:0001251
21 elevated hepatic transaminase 58 31 Frequent (79-30%) HP:0002910
22 elevated serum creatine kinase 58 31 Very frequent (99-80%) HP:0003236
23 lactic acidosis 58 31 Frequent (79-30%) HP:0003128
24 ketonuria 58 31 Very frequent (99-80%) HP:0002919
25 acute rhabdomyolysis 58 31 Frequent (79-30%) HP:0008942
26 seizures 58 Frequent (79-30%)
27 hyperreflexia 58 Occasional (29-5%)
28 nystagmus 58 Occasional (29-5%)
29 dysarthria 31 HP:0001260
30 gait disturbance 31 HP:0001288
31 dysphagia 58 Occasional (29-5%)
32 hypothyroidism 31 HP:0000821
33 muscle weakness 31 HP:0001324
34 developmental regression 58 Frequent (79-30%)
35 delayed speech and language development 58 Frequent (79-30%)
36 hypertonia 58 Occasional (29-5%)
37 feeding difficulties in infancy 58 Frequent (79-30%)
38 absent speech 31 HP:0001344
39 prolonged qt interval 58 Frequent (79-30%)
40 emg: myopathic abnormalities 58 Very frequent (99-80%)
41 generalized myoclonic seizures 58 Occasional (29-5%)
42 arrhythmia 58 Frequent (79-30%)
43 amblyopia 58 Occasional (29-5%)
44 stroke 58 Occasional (29-5%)
45 abnormality of extrapyramidal motor function 58 Frequent (79-30%)
46 involuntary movements 58 Frequent (79-30%)
47 severe global developmental delay 58 Occasional (29-5%)
48 moderate global developmental delay 58 Frequent (79-30%)
49 infantile spasms 58 Occasional (29-5%)
50 gait ataxia 31 HP:0002066

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
clonus
global developmental delay
hypotonia
mental retardation
more
Muscle Soft Tissue:
muscle weakness
rhabdomyolysis, episodic
normal respiratory chain studies seen on muscle biopsy
normal histopathology seen on muscle biopsy (in some patients)
nonspecific myopathic changes seen on biopsy (in some patients)
more
Laboratory Abnormalities:
ketonuria
myoglobinuria
elevated serum transaminases
hypoglycemia, intermittent severe
elevated serum creatine phosphokinase (cpk) levels
more
Cardiovascular Heart:
ventricular tachycardia
cardiac arrest
ventricular fibrillation
torsade de pointes
cardiomyopathy, hypertrophic (in some patients)
more
Head And Neck Head:
microcephaly (in some patients)

Head And Neck Ears:
hearing loss, sensorineural (in some patients)

Chest Breasts:
premature thelarche (rare)

Endocrine Features:
hypothyroidism
elevated tsh
premature pubarche (rare)

Metabolic Features:
metabolic acidosis
lactic acidemia
hypoglycemia, intermittent severe
excretion of dicarboxylic acids
normalization of metabolic parameters in between crises

Head And Neck Mouth:
drooling
oropharyngeal dysphagia

Head And Neck Face:
myopathic facies

Skeletal Skull:
microcephaly (in some patients)

Head And Neck Eyes:
optic atrophy (rare)

Clinical features from OMIM®:

616878 (Updated 20-May-2021)

UMLS symptoms related to Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:


muscle weakness; myalgia; generalized muscle weakness; muscle cramp; muscle rigidity; muscle spasticity; spasm

Drugs & Therapeutics for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

Drugs for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3 Anesthetics Phase 4
4 Hypnotics and Sedatives Phase 4
5 Anesthetics, General Phase 4
6 Anesthetics, Inhalation Phase 4
7 Anesthetics, Intravenous Phase 4
8 Platelet Aggregation Inhibitors Phase 4
9
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
10
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
11 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
12 Antimetabolites Phase 2
13 Hypolipidemic Agents Phase 2
14 Lipid Regulating Agents Phase 2
15 Respiratory System Agents Phase 2
16 Antidotes Phase 2
17 Antioxidants Phase 2
18 Protective Agents Phase 2
19 Expectorants Phase 2
20 Antiviral Agents Phase 2
21 N-monoacetylcystine Phase 2
22 Anticholesteremic Agents Phase 2
23 Dihydromevinolin Phase 2
24 L 647318 Phase 2
25
Hydroxychloroquine Approved 118-42-3 3652
26
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
27
Choline Approved, Nutraceutical 62-49-7 305
28
Lecithin Experimental 8002-43-5
29 Clofibric Acid 882-09-7
30 Antipsychotic Agents
31 Vaccines
32 Gastrointestinal Agents
33 Nootropic Agents
34 Dialysis Solutions
35 Anti-Infective Agents
36 Antirheumatic Agents
37 Antiparasitic Agents
38 Antimalarials
39 Antiprotozoal Agents

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 Evaluation of Total (Pre and Post) Conditioning on Rhabdomyolysis of Sedation With Sevoflurane Versus Propofol in Vascular Surgery With Clamping Completed NCT03215446 Phase 4 maintenance of anaesthesia with propofol;maintenance of anaesthesia with sevoflurane
2 Extracorporeal Therapy for the Removal of Myoglobin Using the CytoSorb in Patients With Rhabdomyolysis Unknown status NCT02111018 Phase 2
3 A Randomized Factorial Trial of N-Acetylcysteine and Continuous Veno-Venous Hemo(Dia)Filtration for Rhabdomyolysis Completed NCT00391911 Phase 2 N-Acetylcysteine
4 A Phase 2 Safety Study in Which Ischemic Stroke Patients Will be Randomized Within 24 Hours of Symptom Onset to Placebo or Oral Lovastatin 640 mg Per Day for 3 Days. Completed NCT01976936 Phase 2 Low Dose Lovastatin;High Dose Lovastatin
5 Rhabdomyolysis - A Retrospective Study in Hospitalized Patients Unknown status NCT01022450
6 Risk of Muscle Damage in Cancer Patients Exposed to the Influenza Vaccine While Receiving Checkpoint Inhibitor Therapies: A Nested Case Control Study Using Claims Data Unknown status NCT03644498
7 Exertional Rhabdomyolysis- Characterization of Prediction Tests for Return to Duty Unknown status NCT02498366
8 Association Analysis Between Single Nucleotide Polymorphisms in Statin-Related Genes and The Incidence of Myopathy Among Statin-Treated Patients Unknown status NCT00549029
9 The Effect of Remote Ischemic Preconditioning (RIPC) on Physical Performance and Exertional Rhabdomyolysis Unknown status NCT02518724
10 Nutritional Prevention of Exertional Muscle Dysfunction Completed NCT01722448
11 Plasma Neutrophil Gelatinase Associated Lipocalin (NGAL) Levels During Emergency Management of Rhabdomyolysis: Predicting Renal Failure Completed NCT01544231
12 Incidence of Rhabdomyolysis Among Pediatric and Adolescent Patients Admitted for Jimsonweed (Datura Stramonium) Ingestions Completed NCT00592657
13 Myoglobin Reduction by High Cut-off (HCO) Continuous Veno- Venous Hemodialysis (CVVHD) in Patients With Rhabdomyolysis and an Increased Risk for Acute Kidney Injury Completed NCT01467180
14 Exercise-induced Collective Rhabdomyolysis Completed NCT03737513
15 Rhabdomyolysis in Basic Training Completed NCT00601029
16 Is Rhabdomyolysis an Anesthetic Complication in Patients Undergoing Robot-assisted Radical Prostatectomy? Completed NCT02671604
17 Pharmacoepidemiology and Pharmacogenetics of a Statin Adverse Event Completed NCT00241748
18 Markers of Tissue Injury and Rhabdomyolysis in Patients With Major Trauma Recruiting NCT03986736
19 Study of the Neuromuscular and Multisystem Features of Patients With Malignant Hyperthermia or Rhabdomyolysis Related to RYR1 Variants Recruiting NCT04610619
20 Study of the Correlation Between the Effort Test, With the Assessment of Peripheral Oxygen Consumption and Cardiac Output in Patients With Acute Rhabdomyolysis Related to a Hereditary Disease of Metabolism, and the Biochemical Flux on Myoblasts: Evaluate the Effort Test as a Therapeutic Monitoring Tool in Acute Rhabdomyolyses Recruiting NCT03802279
21 Rhabdomyolysis - a Study of Patient Characteristics and Laboratory Values to Guide Treatment Recruiting NCT04118608
22 Biomarkers of Rhabdomyolysis in the Diagnosis of Acute Compartment Syndrome: Study Protocol of a Prospective Multinational, Multicentre Study in Patients With Tibial Fractures. Recruiting NCT04674592
23 Acute Rhabdomyolysis and Muscle Pain Associated With Mutations in the LPIN1 Gene - A Retrospective Study Describing the Safety and Efficacy of Hydroxychloroquine Sulfate Given on a Compassionate Basis to Patients Suffering From Lipin-1 Deficiency Not yet recruiting NCT04007562 Hydroxychloroquine Sulfate
24 Support for the Rhabdomyolysis in an Emergency Department Withdrawn NCT02896517

Search NIH Clinical Center for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration

Genetic Tests for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

Genetic tests related to Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:

# Genetic test Affiliating Genes
1 Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 29 TANGO2

Anatomical Context for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

MalaCards organs/tissues related to Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:

40
Kidney, Skeletal Muscle, Liver, Heart, Bone, Brain, Thyroid

Publications for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

Articles related to Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:

(show top 50) (show all 8156)
# Title Authors PMID Year
1
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 6 57 61
26805781 2016
2
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. 6 57 61
26805782 2016
3
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. 6 61
30245509 2019
4
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
5
Increasing the sensitivity of clinical exome sequencing through improved filtration strategy. 6
27711071 2017
6
Macroscopic hematuria in wasp sting patients: a retrospective study. 61
33706645 2021
7
Aldolase A deficiency: Report of new cases and literature review. 61
33665120 2021
8
Safety outcomes with high-dose daptomycin in patients with acute kidney injury and/or end-stage renal disease. 61
33016513 2021
9
Severe rhabdomyolysis induced by possible drug-drug interaction between Ribociclib and Simvastatin. 61
32727321 2021
10
Myopathy Associated With Statins and SGLT2 - A Review of Literature. 61
33385749 2021
11
Clinical outcomes of high-intensity doses of atorvastatin in patients with acute coronary syndrome: A retrospective cohort study using real-world data. 61
33068036 2021
12
Inpatient burden and mortality of heatstroke in the United States. 61
33202077 2021
13
GNAO1 mutation-related severe involuntary movements treated with gabapentin. 61
33358199 2021
14
MYH1 is a candidate gene for recurrent rhabdomyolysis in humans. 61
33755318 2021
15
Development and validation of a model for the early prediction of the RRT requirement in patients with rhabdomyolysis. 61
33714053 2021
16
Extracorporeal myoglobin removal in severe rhabdomyolysis with high cut-off membranes-intermittent dialysis achieves much greater clearances than continuous methods. 61
33750390 2021
17
Valproate attenuates hypertonic glycerol-induced rhabdomyolysis and acute kidney injury. 61
33781712 2021
18
Phlegmasia Alba Dolens Complicating Rhabdomyolysis. 61
33786250 2021
19
Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency. 61
33457207 2021
20
Rhabdomyolysis as the Initial Presentation of SARS-CoV-2 in an Adolescent. 61
33037123 2021
21
Anaphylaxis and Rhabdomyolysis: A Presentation of a Pediatric Patient With COVID-19. 61
33666107 2021
22
Suspected Drug-Induced Rhabdomyolysis From the Combination of Atorvastatin, Amiodarone, and Ciprofloxacin. 61
32762337 2021
23
Rhabdomyolysis and complement-once again, epithelial cells take center stage. 61
33637198 2021
24
Electrical weapons and rhabdomyolysis. 61
32946064 2021
25
Viability assessment and utilization of declined donor kidneys with rhabdomyolysis using ex vivo normothermic perfusion without preimplantation biopsy. 61
33021059 2021
26
Diclofenac and the Risk of Rhabdomyolysis: Analysis of Publications and the WHO Global Pharmacovigilance Database. 61
33786776 2021
27
Interpretable Machine Learning Model for Early Prediction of Mortality in ICU Patients with Rhabdomyolysis. 61
33787533 2021
28
MBD2 mediates renal cell apoptosis via activation of Tox4 during rhabdomyolysis-induced acute kidney injury. 61
33764669 2021
29
Exercise-induced bilateral upper-arm anterior and posterior compartment syndrome with rhabdomyolysis. 61
33197591 2021
30
Complement activation is a crucial driver of acute kidney injury in rhabdomyolysis. 61
33137339 2021
31
Bilateral rhabdomyolysis of the arms after an extensive horse ride. 61
33725117 2021
32
Acute kidney injury associated with rhabdomyolysis in a patient with COVID-19. 61
33704346 2021
33
Risedronate-induced rhabdomyolysis in a patient with inflammatory myopathy. 61
33147494 2021
34
Clinical Practice Guidelines for Exertional Rhabdomyolysis: A Military Medicine Perspective. 61
33655999 2021
35
Ten Years of National Seasonal Surveillance for Severe Complications of Influenza in Australian Children. 61
33093432 2021
36
The Role of Skeletal Muscles in Exertional Heat Stroke Pathophysiology. 61
33772503 2021
37
Synthetic cathinone poisoning from ingestion of drug-laced "instant coffee packets" in Taiwan. 61
33715482 2021
38
Subcortical Structure Disruption in Diffusion Tensor Tractography of the Patient With the Syndrome of Irreversible Lithium-Effectuated Neurotoxicity Combined With Neuroleptic Malignant Syndrome: A Case Report. 61
33560007 2021
39
An Unusual Case of Candida kefyr Fungemia in an Immunocompromised Patient. 61
33791183 2021
40
Rhabdomyolysis secondary to severe tic fits. 61
33653856 2021
41
Management and outcome of benign acute childhood myositis in pediatric emergency department. 61
33750449 2021
42
MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations. 61
33744096 2021
43
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect. 61
32929747 2021
44
[Neuromuscular complications of SARS-CoV-2 infection-Part 2: muscle disorders]. 61
33779772 2021
45
The Risk of Muscular Events Among New Users of Hydrophilic and Lipophilic Statins: an Observational Cohort Study. 61
33751411 2021
46
Neurological manifestations temporally associated with SARS-CoV-2 infection in pediatric patients in Mexico. 61
33751228 2021
47
Genetic inhibition of FABP4 attenuated endoplasmic reticulum stress and mitochondrial dysfunction in rhabdomyolysis-induced acute kidney injury. 61
33434534 2021
48
Genetic rhabdomyolysis within the spectrum of the Spinocerebellar Ataxia type 2 responsive to pregabalin. 61
33673860 2021
49
[Abnormal urine color assessment: The urine wheel]. 61
33736891 2021
50
Clinical and computed tomographic features of Legionella pneumonia with negative urine antigen test results. 61
33339738 2021

Variations for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

ClinVar genetic disease variations for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TANGO2 NM_152906.7(TANGO2):c.4del (p.Cys2fs) Deletion Pathogenic 224773 rs869320693 GRCh37: 22:20024325-20024325
GRCh38: 22:20036802-20036802
2 TANGO2 NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter) SNV Pathogenic 617515 rs1162037663 GRCh37: 22:20040098-20040098
GRCh38: 22:20052575-20052575
3 TANGO2 GRCh37/hg19 22q11.21(chr22:20029135-20062954) copy number loss Pathogenic 915958 GRCh37: 22:20029135-20062954
GRCh38:
4 TANGO2 GRCh37/hg19 22q11.21(chr22:20036384-20045784) copy number loss Pathogenic 915959 GRCh37: 22:20036384-20045784
GRCh38:
5 TANGO2 NM_152906.7(TANGO2):c.418C>T (p.Arg140Ter) SNV Pathogenic 224774 rs764883927 GRCh37: 22:20043503-20043503
GRCh38: 22:20055980-20055980
6 TANGO2 NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter) SNV Pathogenic 378700 rs199801224 GRCh37: 22:20030915-20030915
GRCh38: 22:20043392-20043392
7 TANGO2 NM_152906.7(TANGO2):c.146-3605_451+2245del Deletion Pathogenic 224772 GRCh37: 22:20036383-20045781
GRCh38: 22:20048860-20058258
8 TANGO2 NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg) SNV Pathogenic 208823 rs752298579 GRCh37: 22:20049061-20049061
GRCh38: 22:20061538-20061538
9 TANGO2 NM_152906.5(TANGO2):c.57-1743_*10769del Deletion Pathogenic 224770 GRCh37: 22:20029135-20062954
GRCh38: 22:20041612-20075431
10 TANGO2 NM_152906.7(TANGO2):c.605+1G>A SNV Pathogenic 208824 rs372949028 GRCh37: 22:20049207-20049207
GRCh38: 22:20061684-20061684
11 TANGO2 NM_152906.7(TANGO2):c.380+1G>A SNV Likely pathogenic 813936 rs1602255030 GRCh37: 22:20041075-20041075
GRCh38: 22:20053552-20053552
12 TANGO2 NM_152906.7(TANGO2):c.95G>A (p.Arg32Gln) SNV Likely pathogenic 803644 rs896249235 GRCh37: 22:20030916-20030916
GRCh38: 22:20043393-20043393
13 TANGO2 NM_152906.7(TANGO2):c.569_592del (p.Ile190_Leu197del) Deletion Likely pathogenic 984648 GRCh37: 22:20049159-20049182
GRCh38: 22:20061636-20061659
14 TANGO2 NM_152906.7(TANGO2):c.57-3C>T SNV Uncertain significance 1027803 GRCh37: 22:20030875-20030875
GRCh38: 22:20043352-20043352

UniProtKB/Swiss-Prot genetic disease variations for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:

72
# Symbol AA change Variation ID SNP ID
1 TANGO2 p.Gly154Arg VAR_076912 rs752298579

Expression for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

Search GEO for disease gene expression data for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration.

Pathways for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

GO Terms for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

Sources for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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19 FMA
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28 GO
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31 HPO
32 ICD10
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45 MESH via Orphanet
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