MECRCN
MCID: MTB008
MIFTS: 44

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

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases
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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 73
Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 57 73 5 38
Mecrcn 57 73
Rhabdomyolysis 71

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
metabolic encephalomyopathic crises often triggered by infection


Classifications:



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 08-Dec-2022)

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 childhood type dermatomyositis, 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 skeletal muscle, liver and kidney, and related phenotypes are microcephaly and sensorineural hearing impairment

UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by metabolic encephalomyopathic crises, hypoglycemia, hyperammonemia, episodic rhabdomyolysis, susceptibility to life-threatening cardiac tachyarrhythmias, developmental delay, intellectual disability, 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:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 tango2-related metabolic encephalopathy and arrhythmias 11.8
2 childhood type dermatomyositis 10.0 PIK3C2A HMGCR
3 anterior compartment syndrome 9.9 PIK3C2A MB
4 anteroseptal myocardial infarction 9.9 PIK3C2A MB
5 pyomyositis 9.9 PIK3C2A MB
6 critical illness polyneuropathy 9.9 PIK3C2A MB
7 ornithosis 9.9 PIK3C2A MB
8 coronary artery vasospasm 9.9 PIK3C2A MB
9 anuria 9.9 PIK3C2A MB
10 acute kidney tubular necrosis 9.9 PIK3C2A MB
11 angina pectoris 9.9 PIK3C2A MB
12 pericardium disease 9.9 PIK3C2A MB
13 pericardial effusion 9.9 PIK3C2A MB
14 acute kidney failure 9.9 PIK3C2A MB
15 myoglobinuria 9.9 PIK3C2A MB
16 extrinsic cardiomyopathy 9.9 PIK3C2A MB
17 ectopic pregnancy 9.9 PIK3C2A MB
18 polymyositis 9.8 PIK3C2A MB
19 disseminated intravascular coagulation 9.8 PIK3C2A MB
20 toxoplasmosis 9.8 PIK3C2A MB
21 hypokalemia 9.8 PIK3C2A MB
22 malignant hyperthermia 9.8 PIK3C2A MB
23 muscular disease 9.8 PIK3C2A MB
24 glycogen storage disease v 9.7 MB CHKB
25 gas gangrene 9.7 PIK3C2A MB HMGCR
26 isolated elevated serum creatine phosphokinase levels 9.7 PIK3C2A MB HMGCR
27 muscle tissue disease 9.7 PIK3C2A MB HMGCR
28 myocardial infarction 9.7 PIK3C2A MB HMGCR
29 acute myocardial infarction 9.7 PIK3C2A MB HMGCR
30 myocarditis 9.6 PIK3C2A MB
31 compartment syndrome 9.5 PIK3C2A MB CHKB
32 neuroleptic malignant syndrome 9.5 PIK3C2A MB CHKB
33 myositis 9.5 PIK3C2A MB CHKB
34 muscular dystrophy, duchenne type 9.5 PIK3C2A MB CHKB
35 muscular dystrophy 9.5 PIK3C2A MB CHKB
36 kidney disease 9.4 PIK3C2A MB HMGCR
37 dilated cardiomyopathy 9.3 PIK3C2A MB CHKB
38 creatine phosphokinase, elevated serum 9.3 PIK3C2A MB HMGCR CHKB
39 lipoprotein quantitative trait locus 9.2 PIK3C2A MB HMGCR CHKB
40 myopathy 9.2 PIK3C2A MB HMGCR CHKB

Graphical network of the top 20 diseases related to Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:



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

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

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

30 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 30 Occasional (7.5%) HP:0000252
2 sensorineural hearing impairment 30 Occasional (7.5%) HP:0000407
3 optic atrophy 30 Occasional (7.5%) HP:0000648
4 spastic tetraplegia 30 Occasional (7.5%) HP:0002510
5 hypertrophic cardiomyopathy 30 Occasional (7.5%) HP:0001639
6 dystonia 30 Occasional (7.5%) HP:0001332
7 spastic diplegia 30 Occasional (7.5%) HP:0001264
8 premature thelarche 30 Occasional (7.5%) HP:0010314
9 premature pubarche 30 Occasional (7.5%) HP:0012411
10 seizure 30 Very rare (1%) HP:0001250
11 global developmental delay 30 Very rare (1%) HP:0001263
12 hypoglycemia 30 Very rare (1%) HP:0001943
13 increased serum lactate 30 Very rare (1%) HP:0002151
14 hyperammonemia 30 Very rare (1%) HP:0001987
15 ventricular tachycardia 30 Very rare (1%) HP:0004756
16 prolonged qtc interval 30 Very rare (1%) HP:0005184
17 torsade de pointes 30 Very rare (1%) HP:0001664
18 intellectual disability 30 HP:0001249
19 clonus 30 HP:0002169
20 ataxia 30 HP:0001251
21 dysarthria 30 HP:0001260
22 gait disturbance 30 HP:0001288
23 hypothyroidism 30 HP:0000821
24 muscle weakness 30 HP:0001324
25 absent speech 30 HP:0001344
26 elevated hepatic transaminase 30 HP:0002910
27 elevated circulating creatine kinase concentration 30 HP:0003236
28 gait ataxia 30 HP:0002066
29 lactic acidosis 30 HP:0003128
30 metabolic acidosis 30 HP:0001942
31 myopathic facies 30 HP:0002058
32 cerebral atrophy 30 HP:0002059
33 hyperactive deep tendon reflexes 30 HP:0006801
34 generalized hypotonia 30 HP:0001290
35 oral-pharyngeal dysphagia 30 HP:0200136
36 ketonuria 30 HP:0002919
37 acute rhabdomyolysis 30 HP:0008942
38 cardiac arrest 30 HP:0001695
39 poor coordination 30 HP:0002370
40 drooling 30 HP:0002307
41 ventricular fibrillation 30 HP:0001663
42 neurodegeneration 30 HP:0002180
43 myoglobinuria 30 HP:0002913
44 elevated circulating acylcarnitine concentration 30 HP:0045045

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
clonus
hypotonia
global developmental delay
seizures
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
Head And Neck Face:
myopathic facies

Cardiovascular Heart:
ventricular tachycardia
cardiac arrest
ventricular fibrillation
torsade de pointes
premature ventricular contraction
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

Laboratory Abnormalities:
ketonuria
myoglobinuria
elevated serum transaminases
hypoglycemia, intermittent severe
elevated serum creatine phosphokinase (cpk) levels
more
Head And Neck Mouth:
drooling
oropharyngeal dysphagia

Skeletal Skull:
microcephaly (in some patients)

Head And Neck Eyes:
optic atrophy (rare)

Clinical features from OMIM®:

616878 (Updated 08-Dec-2022)

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

GenomeRNAi Phenotypes related to Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection GR00234-A-1 8.62 CHKB PIK3C2A

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 33)
# 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 Platelet Aggregation Inhibitors Phase 4
5 Anesthetics, Intravenous Phase 4
6 Anesthetics, Inhalation Phase 4
7 Anesthetics, General Phase 4
8 Hypnotics and Sedatives Phase 4
9
Acetylcysteine Approved, Investigational Phase 2 616-91-1 581 12035
10
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
11 Antiviral Agents Phase 2
12 Expectorants Phase 2
13 Antidotes Phase 2
14 N-monoacetylcystine Phase 2
15 Respiratory System Agents Phase 2
16 Antioxidants Phase 2
17 Protective Agents Phase 2
18 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
19 L 647318 Phase 2
20 Dihydromevinolin Phase 2
21 Antimetabolites Phase 2
22 Hypolipidemic Agents Phase 2
23 Anticholesteremic Agents Phase 2
24 Lipid Regulating Agents Phase 2
25
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
26
Lecithin Approved, Experimental, Investigational, Nutraceutical 8002-43-5, 1446756-47-3, 18656-38-7 26197 9547096 6323481
27
Choline Approved, Nutraceutical 62-49-7 305
28 Antipsychotic Agents
29
Clofibric Acid 882-09-7 2797
30 Dialysis Solutions
31 Nootropic Agents
32 Gastrointestinal Agents
33 Liver Extracts

Interventional clinical trials:

(show all 25)
# 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 The Neuromuscular and Multisystem Features of RYR1-related Malignant Hyperthermia and Rhabdomyolysis - a Study Protocol Unknown status NCT04610619
6 Rhabdomyolysis - A Retrospective Study in Hospitalized Patients Unknown status NCT01022450
7 The Effect of Remote Ischemic Preconditioning (RIPC) on Physical Performance and Exertional Rhabdomyolysis Unknown status NCT02518724
8 Exertional Rhabdomyolysis- Characterization of Prediction Tests for Return to Duty Unknown status NCT02498366
9 Association Analysis Between Single Nucleotide Polymorphisms in Statin-Related Genes and The Incidence of Myopathy Among Statin-Treated Patients Unknown status NCT00549029
10 Exercise-induced Collective Rhabdomyolysis Completed NCT03737513
11 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 Completed NCT03802279
12 Is Rhabdomyolysis an Anesthetic Complication in Patients Undergoing Robot-assisted Radical Prostatectomy? Completed NCT02671604
13 Rhabdomyolysis in Basic Training Completed NCT00601029
14 Incidence of Rhabdomyolysis Among Pediatric and Adolescent Patients Admitted for Jimsonweed (Datura Stramonium) Ingestions Completed NCT00592657
15 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
16 Plasma Neutrophil Gelatinase Associated Lipocalin (NGAL) Levels During Emergency Management of Rhabdomyolysis: Predicting Renal Failure Completed NCT01544231
17 Pharmacoepidemiology and Pharmacogenetics of a Statin Adverse Event Completed NCT00241748
18 Nutritional Prevention of Exertional Muscle Dysfunction Completed NCT01722448
19 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
20 Rhabdomyolysis - a Study of Patient Characteristics and Laboratory Values to Guide Treatment Recruiting NCT04118608
21 Prospective Quality Assurance Study for the Application of Cytosorb® in Patients With Cytokine Storm, Rhabdomyolysis and Acute Liver Failure Recruiting NCT04913298
22 Markers of Tissue Injury and Rhabdomyolysis in Patients With Major Trauma Recruiting NCT03986736
23 CytOSorb TreatMent Of Critically Ill PatientS Registry: International Registry on the Use of CytoSorb in the Critical Care Setting Recruiting NCT05146336
24 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 Withdrawn NCT04007562 Hydroxychloroquine Sulfate
25 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...

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

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

MalaCards : Skeletal Muscle, Liver, Kidney, Neutrophil, Heart, Brain, Colon

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 256)
# Title Authors PMID Year
1
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. 57 5
26805782 2016
2
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 57 5
26805781 2016
3
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect. 5
32929747 2021
4
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 5
32576985 2020
5
Clinical presentation and proteomic signature of patients with TANGO2 mutations. 5
31339582 2020
6
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. 5
30245509 2019
7
Increasing the sensitivity of clinical exome sequencing through improved filtration strategy. 5
27711071 2017
8
Elevations of creatine kinase in patients treated with imatinib mesylate (Gleevec). 53
19963273 2010
9
The genetics of statin-induced myopathy. 53
20042189 2010
10
Perioperative cardiac arrest in a patient with previously undiagnosed Becker's muscular dystrophy after isoflurane anaesthesia for elective surgery. 53
20190256 2010
11
Muscle toxicity with statins. 53
20014178 2010
12
Community acquired methicillin-resistant Staphylococcus aureus pneumonia leading to rhabdomyolysis: a case report. 53
20205915 2010
13
The risk for significant creatine kinase elevation with statins. 53
20524720 2010
14
Utility of urine myoglobin for the prediction of acute renal failure in patients with suspected rhabdomyolysis: a systematic review. 53
19797717 2009
15
Neuroleptic malignant syndrome or a statin drug reaction? A case report. 53
19952877 2009
16
Genetic variation in RYR1 and malignant hyperthermia phenotypes. 53
19648156 2009
17
The modern spectrum of rhabdomyolysis: drug toxicity revealed by creatine kinase screening. 53
19534642 2009
18
Short term treatment with clarithromycin resulting in colchicine-induced rhabdomyolysis. 53
19734738 2009
19
Myoglobin causes oxidative stress, increase of NO production and dysfunction of kidney's mitochondria. 53
19545623 2009
20
Sertraline-induced rhabdomyolysis in an elderly patient with dementia and comorbidities. 53
19567656 2009
21
Rhabdomyolysis and acute renal failure associated with the co-administration of daptomycin and an HMG-CoA reductase inhibitor. 53
19346518 2009
22
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. 53
19327992 2009
23
Genetic analysis of ryanodine receptor 1 gene and carnitine palmitoyltransferase II gene: an autopsy case of neuroleptic malignant syndrome related to vegetamin. 53
19269221 2009
24
Managing statin myopathy. 53
19217515 2009
25
Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy. 53
19156135 2009
26
Should high creatine kinase discourage the initiation or continuance of statins for the treatment of hypercholesterolemia? 53
19154957 2009
27
[Rhabdomyolysis due to muscle enzyme deficiencies]. 53
19240776 2009
28
In-vitro myoglobin clearance by a novel sorbent system. 53
19132637 2009
29
Crush syndrome due to drug-induced compartment syndrome: a rare condition not to be overlooked. 53
19562441 2009
30
Increased creatinine kinase and rhabdomyolysis in anorexia nervosa. 53
18521917 2008
31
[Severe hypokalemia after holidays return]. 53
19055123 2008
32
Excellent outcome using "impaired" standard criteria donors with elevated serum creatinine. 53
18492072 2008
33
Acute kidney injury due to rhabdomyolysis. 53
18711286 2008
34
The creatine kinase response to eccentric exercise with atorvastatin 10 mg or 80 mg. 53
18261731 2008
35
Rhabdomyolysis and pancreatitis associated with coadministration of danazol 600 mg/d and lovastatin 40 mg/d. 53
18691993 2008
36
Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy. 53
18645163 2008
37
No carnitine palmitoyltransferase deficiency in skeletal muscle in 18 malignant hyperthermia susceptible individuals. 53
18430572 2008
38
Severe rhabdomyolysis with hypoglycemia in an adult patient with carnitine palmitoyltransferase II deficiency. 53
18471680 2008
39
Daptomycin-induced acute renal and hepatic toxicity without rhabdomyolysis. 53
18381844 2008
40
Complications of heroin abuse. 53
18446076 2008
41
Rhabdomyolysis, renal failure, pericardial effusion, and acquired von Willebrand disease resulting from hypothyroidism in a 10-year-old girl. 53
18341381 2008
42
Influence of regulatory measures on the rate of spontaneous adverse drug reaction reporting in Italy. 53
18558794 2008
43
Mitochondria, PPARs, and Cancer: Is Receptor-Independent Action of PPAR Agonists a Key? 53
18645611 2008
44
On the mechanisms underlying poisoning-induced rhabdomyolysis and acute renal failure. 53
20020858 2008
45
The safety of statins in clinical practice. 53
17559928 2007
46
Rhabdomyolysis. 53
17909702 2007
47
[Is every case of muscle damage during hypolipemic therapy the side effect of this therapy? A case report]. 53
18320790 2007
48
Effect of rosuvastatin 5-20mg on triglycerides and other lipid parameters in Japanese patients with hypertriglyceridemia. 53
17223112 2007
49
Rhabdomyolysis among acute human poisoning cases. 53
17884958 2007
50
[Case of hemoglobinuria following glycerin enema]. 53
17571610 2007

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

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

5 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TANGO2 NM_152906.5(TANGO2):c.57-1743_*10769del DEL Pathogenic
224770 GRCh37: 22:20029135-20062954
GRCh38: 22:20041612-20075431
2 TANGO2 NM_152906.7(TANGO2):c.4del (p.Cys2fs) DEL Pathogenic
224773 rs869320693 GRCh37: 22:20024325-20024325
GRCh38: 22:20036802-20036802
3 TANGO2 NM_152906.7(TANGO2):c.418C>T (p.Arg140Ter) SNV Pathogenic
224774 rs764883927 GRCh37: 22:20043503-20043503
GRCh38: 22:20055980-20055980
4 TANGO2 NM_152906.7(TANGO2):c.146-3605_451+2245del DEL Pathogenic
224772 GRCh37: 22:20036383-20045781
GRCh38: 22:20048860-20058258
5 TANGO2 NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter) SNV Pathogenic
378700 rs199801224 GRCh37: 22:20030915-20030915
GRCh38: 22:20043392-20043392
6 TANGO2 GRCh37/hg19 22q11.21(chr22:20029135-20062954) CN LOSS Pathogenic
915958 GRCh37: 22:20029135-20062954
GRCh38:
7 TANGO2 GRCh37/hg19 22q11.21(chr22:20036384-20045784) CN LOSS Pathogenic
915959 GRCh37: 22:20036384-20045784
GRCh38:
8 TANGO2 NC_000022.11:g.20039637_20075714del DEL Pathogenic
984372 GRCh37:
GRCh38: 22:20039637-20075714
9 TANGO2 NC_000022.11:g.20041469_20075432del DEL Pathogenic
984373 GRCh37:
GRCh38: 22:20041469-20075432
10 TANGO2 NM_152906.7(TANGO2):c.262C>T (p.Arg88Ter) SNV Pathogenic
1312508 GRCh37: 22:20040104-20040104
GRCh38: 22:20052581-20052581
11 TANGO2 NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg) SNV Pathogenic/Likely Pathogenic
208823 rs752298579 GRCh37: 22:20049061-20049061
GRCh38: 22:20061538-20061538
12 TANGO2 NM_152906.7(TANGO2):c.605+1G>A SNV Pathogenic/Likely Pathogenic
208824 rs372949028 GRCh37: 22:20049207-20049207
GRCh38: 22:20061684-20061684
13 TANGO2 NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter) SNV Pathogenic/Likely Pathogenic
617515 rs1162037663 GRCh37: 22:20040098-20040098
GRCh38: 22:20052575-20052575
14 TANGO2 NM_152906.7(TANGO2):c.569_592del (p.Ile190_Leu197del) DEL Likely Pathogenic
984648 rs2048401628 GRCh37: 22:20049159-20049182
GRCh38: 22:20061636-20061659
15 TANGO2 NM_152906.7(TANGO2):c.711-3C>G SNV Likely Pathogenic
432207 rs367912276 GRCh37: 22:20052062-20052062
GRCh38: 22:20064539-20064539
16 TANGO2 NM_152906.7(TANGO2):c.380+1G>A SNV Likely Pathogenic
813936 rs1602255030 GRCh37: 22:20041075-20041075
GRCh38: 22:20053552-20053552
17 TANGO2 NM_152906.7(TANGO2):c.280del (p.His94fs) DEL Likely Pathogenic
1710052 GRCh37: 22:20040972-20040972
GRCh38: 22:20053449-20053449
18 TANGO2 NM_152906.7(TANGO2):c.95G>A (p.Arg32Gln) SNV Conflicting Interpretations Of Pathogenicity
803644 rs896249235 GRCh37: 22:20030916-20030916
GRCh38: 22:20043393-20043393
19 TANGO2 NM_152906.7(TANGO2):c.57-3C>T SNV Uncertain Significance
1027803 rs750814833 GRCh37: 22:20030875-20030875
GRCh38: 22:20043352-20043352
20 TANGO2 NM_152906.7(TANGO2):c.703G>A (p.Gly235Ser) SNV Uncertain Significance
1301615 GRCh37: 22:20050958-20050958
GRCh38: 22:20063435-20063435
21 TANGO2 NM_152906.7(TANGO2):c.59T>G (p.Leu20Arg) SNV Uncertain Significance
1312497 GRCh37: 22:20030880-20030880
GRCh38: 22:20043357-20043357
22 TANGO2 NM_152906.7(TANGO2):c.265G>T (p.Gly89Cys) SNV Uncertain Significance
1312498 GRCh37: 22:20040107-20040107
GRCh38: 22:20052584-20052584
23 TANGO2 NM_152906.7(TANGO2):c.12CTT[1] (p.Phe6del) MICROSAT Uncertain Significance
1312505 GRCh37: 22:20024332-20024334
GRCh38: 22:20036809-20036811
24 BICD2 NM_001003800.2(BICD2):c.2383C>T (p.Arg795Trp) SNV Uncertain Significance
644642 rs756421767 GRCh37: 9:95477621-95477621
GRCh38: 9:92715339-92715339
25 TANGO2 NM_152906.7(TANGO2):c.359A>G (p.Asn120Ser) SNV Uncertain Significance
1709923 GRCh37: 22:20041053-20041053
GRCh38: 22:20053530-20053530
26 TANGO2 NM_152906.7(TANGO2):c.263G>A (p.Arg88Gln) SNV Uncertain Significance
1339009 GRCh37: 22:20040105-20040105
GRCh38: 22:20052582-20052582
27 TANGO2 NM_152906.7(TANGO2):c.430G>A (p.Asp144Asn) SNV Uncertain Significance
1696470 GRCh37: 22:20043515-20043515
GRCh38: 22:20055992-20055992
28 TANGO2 NM_152906.7(TANGO2):c.56+219C>G SNV Likely Benign
1208775 GRCh37: 22:20024596-20024596
GRCh38: 22:20037073-20037073

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

73
# Symbol AA change Variation ID SNP ID
1 TANGO2 p.Gly154Arg VAR_076912 rs752298579
2 TANGO2 p.Leu20Pro VAR_085628
3 TANGO2 p.Leu20Arg VAR_085629 rs1191958022

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...

Biological processes related to Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 8.8 PIK3C2A HMGCR CHKB

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

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72 UMLS via Orphanet
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