MECRCN
MCID: MTB007
MIFTS: 52

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

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

Aliases & Classifications for Metabolic Encephalomyopathic Crises, Recurrent, with...

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

Name: Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 57 75
Rhabdomyolysis 44 73
Mecrcn 57 75
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
metabolic encephalomyopathic crises often triggered by infection


HPO:

32
metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Metabolic Encephalomyopathic Crises, Recurrent, with...

UniProtKB/Swiss-Prot : 75 Metabolic encephalomyopathic 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.

MalaCards based summary : Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration, also known as rhabdomyolysis, is related to acyl-coa dehydrogenase, very long-chain, deficiency of and malignant hyperthermia, and has symptoms including muscle weakness, generalized muscle weakness and myalgia. An important gene associated with Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration is TANGO2 (Transport And Golgi Organization 2 Homolog), and among its related pathways/superpathways are Metabolism and AMPK Enzyme Complex Pathway. Affiliated tissues include kidney, bone and liver, and related phenotypes are hypothyroidism and intellectual disability

Description from OMIM: 616878

Related Diseases for Metabolic Encephalomyopathic Crises, Recurrent, with...

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

(show top 50) (show all 407)
# Related Disease Score Top Affiliating Genes
1 acyl-coa dehydrogenase, very long-chain, deficiency of 32.3 ACADVL CPT2
2 malignant hyperthermia 31.8 CPT2 MB PIK3C2A RYR1 SCN4A
3 phosphoglycerate kinase deficiency 31.8 PFKM PYGM
4 neuroleptic malignant syndrome 31.6 CHKB MB PIK3C2A RYR1
5 myoglobinuria, recurrent 31.4 ACADVL CPT2 PYGM
6 myoglobinuria 31.2 ACADVL CPT2 MB PFKM PIK3C2A PYGM
7 glycogen storage disease v 30.8 AMPD1 CHKB CPT2 MB PFKM PYGM
8 compartment syndrome 30.3 CHKB MB PIK3C2A
9 muscle disorders 30.1 PIK3C2A RYR1
10 carnitine palmitoyltransferase ii deficiency, infantile 30.1 ACADVL CPT2
11 myositis 30.0 CHKB MB PIK3C2A
12 malignant hyperthermia susceptibility 30.0 RYR1 SCN4A
13 plexopathy 29.9 MB PIK3C2A
14 gas gangrene 29.8 MB PIK3C2A
15 multiple acyl-coa dehydrogenase deficiency 29.7 ACADVL CPT2
16 acute kidney failure 29.7 MB PIK3C2A
17 pericardial effusion 29.6 ACADVL CHKB PIK3C2A
18 virus associated hemophagocytic syndrome 29.5 MB PIK3C2A
19 disseminated intravascular coagulation 29.4 MB PIK3C2A
20 hypokalemic periodic paralysis, type 1 29.4 RYR1 SCN4A
21 coronary artery anomaly 29.1 HMGCR MB PIK3C2A
22 myocardial infarction 29.0 CHKB HMGCR MB PIK3C2A
23 tango2-related metabolic encephalopathy and arrhythmias 11.9
24 myoglobinuria, acute recurrent, autosomal recessive 11.8
25 mitochondrial trifunctional protein deficiency 11.5
26 hypophosphatemia 11.3
27 myopathy due to myoadenylate deaminase deficiency 11.2
28 glycogen storage disease xii 11.2
29 malignant hyperthermia 1 11.0
30 central core disease of muscle 10.9
31 malignant hyperthermia 2 10.9
32 malignant hyperthermia 3 10.9
33 marinesco-sjogren syndrome 10.9
34 carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced 10.9
35 myopathy with lactic acidosis, hereditary 10.9
36 phosphoglycerate kinase 1 deficiency 10.9
37 malignant hyperthermia 4 10.9
38 malignant hyperthermia 5 10.9
39 malignant hyperthermia 6 10.9
40 congenital cataracts, facial dysmorphism, and neuropathy 10.9
41 congenital disorder of glycosylation, type it 10.9
42 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 10.9
43 myopathy - thyrotoxic 10.9
44 hypokalemia 10.3
45 myopathy 10.3
46 influenza 10.2
47 carnitine deficiency, systemic primary 10.2 ACADVL CPT2
48 hypothyroidism 10.2
49 familial periodic paralysis 10.1 RYR1 SCN4A
50 pneumonia 10.1

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



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

Symptoms & Phenotypes for Metabolic Encephalomyopathic Crises, Recurrent, with...

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hypothyroidism
elevated tsh
premature pubarche (rare)

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

Head And Neck Mouth:
drooling
oropharyngeal dysphagia

Head And Neck Head:
microcephaly (in some patients)

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

Chest Breasts:
premature thelarche (rare)

Neurologic Central Nervous System:
seizures
clonus
global developmental delay
hypotonia
mental retardation
more
Metabolic Features:
metabolic acidosis
lactic acidemia
hypoglycemia, intermittent severe
excretion of dicarboxylic acids
normalization of metabolic parameters in between crises

Cardiovascular Heart:
cardiac arrest
ventricular tachycardia
ventricular fibrillation
torsade de pointes
cardiomyopathy, hypertrophic (in some patients)
more
Laboratory Abnormalities:
myoglobinuria
ketonuria
elevated serum transaminases
hypoglycemia, intermittent severe
elevated serum creatine phosphokinase (cpk) levels
more
Skeletal Skull:
microcephaly (in some patients)

Head And Neck Eyes:
optic atrophy (rare)


Clinical features from OMIM:

616878

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

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

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


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

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10 PIK3C2A
2 Decreased viability GR00221-A-1 10 CHKB PFKM PIK3C2A
3 Decreased viability GR00221-A-2 10 CHKB CPT2 PFKM PIK3C2A
4 Decreased viability GR00221-A-3 10 CHKB PFKM
5 Decreased viability GR00221-A-4 10 CHKB CPT2 PIK3C2A
6 Decreased viability GR00240-S-1 10 PIK3C2A
7 Decreased viability GR00301-A 10 CHKB
8 Decreased viability GR00342-S-1 10 PIK3C2A
9 Decreased viability GR00342-S-2 10 PIK3C2A
10 Decreased viability GR00342-S-3 10 PIK3C2A
11 Decreased viability GR00402-S-2 10 CHKB CPT2 PFKM PIK3C2A
12 Reduced mammosphere formation GR00396-S 9.02 CHKB CPT2 HMGCR PIK3C2A PYGM

MGI Mouse Phenotypes related to Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.9 ACADVL AMPD1 CHKB CPT2 HMGCR MB
2 behavior/neurological MP:0005386 9.87 ACADVL CHKB PFKM PIK3C2A PYGM RYR1
3 cardiovascular system MP:0005385 9.8 ACADVL AMPD1 CPT2 MB PFKM PIK3C2A
4 mortality/aging MP:0010768 9.61 ACADVL AMPD1 CPT2 HMGCR MB PFKM
5 muscle MP:0005369 9.23 ACADVL AMPD1 CHKB MB PFKM PYGM

Drugs & Therapeutics for Metabolic Encephalomyopathic Crises, Recurrent, with...

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

Cochrane evidence based reviews: rhabdomyolysis

Genetic Tests for Metabolic Encephalomyopathic Crises, Recurrent, with...

Anatomical Context for Metabolic Encephalomyopathic Crises, Recurrent, with...

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

41
Kidney, Bone, Liver, Lung, Myeloid, Thyroid, Bone Marrow

Publications for Metabolic Encephalomyopathic Crises, Recurrent, with...

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

(show top 50) (show all 840)
# Title Authors Year
1
Sertraline-Induced Rhabdomyolysis, Trismus, and Cardiac Arrest in a Child. ( 30194278 )
2018
2
A case of influenza type a myocarditis that presents with ST elevation MI, cardiogenic shock, acute renal failure, and rhabdomyolysis and with rapid recovery after treatment with oseltamivir and intra-aortic balloon pump support. ( 29113868 )
2018
3
Rhabdomyolysis during myelosuppression in a patient with central nervous system leukemia: A case report. ( 30407314 )
2018
4
Acute Kidney Injury Secondary to Rhabdomyolysis: A Rare Presentation of Chikungunya Fever. ( 29866233 )
2018
5
Compartment Syndrome with Rhabdomyolysis in a Marathon Runner. ( 30083631 )
2018
6
Complete Bilateral Brachial Plexus Injury from Rhabdomyolysis and Compartment Syndrome: Surgical Case Report. ( 30335171 )
2018
7
Case report on rhabdomyolysis after minimally invasive surgery for squamous cell carcinoma of the uterine cervix and adhesions due to deep infiltrating endometriosis. ( 30094197 )
2018
8
Ibuprofen Abuse-A Case of Rhabdomyolysis, Hypokalemia, and Hypophosphatemia With Drug-Induced Mixed Renal Tubular Acidosis. ( 30197993 )
2018
9
Fenofibrate monotherapy-induced rhabdomyolysis in a patient with hypothyroidism: A rare case report and literature review. ( 29620657 )
2018
10
Rhabdomyolysis Associated with Influenza A Virus Infection. ( 30112262 )
2018
11
Case report: lactic acidosis and rhabdomyolysis during telbivudine and tenofovir treatment for chronic hepatitis B. ( 29625557 )
2018
12
Pemetrexed-induced severe rhabdomyolysis in lung cancer: A case report. ( 30501380 )
2018
13
Rhabdomyolysis secondary to systemic lupus erythematosus. ( 29623452 )
2018
14
T-cell lymphoma with rhabdomyolysis: case report and literature review. ( 30304093 )
2018
15
A novel synthetic cannabinoid (Cumyl-4-cyano-BINACA) resulting in hyperthermia, rhabdomyolysis, and renal failure in a 29-year-old patient: it's not meningitis. ( 30442067 )
2018
16
Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia. ( 29382405 )
2018
17
Dasatinib-Induced Rhabdomyolysis in a 33-Year-Old Patient with Chronic Myeloid Leukemia. ( 29854497 )
2018
18
A case report of scrub typhus complicated with myocarditis and rhabdomyolysis. ( 30404620 )
2018
19
An Out-of-Season Case of Coxsackie B Myocarditis with Severe Rhabdomyolysis. ( 30510822 )
2018
20
Myocardial calcification found in Epstein-Barr viral myocarditis and rhabdomyolysis: A case report. ( 30544481 )
2018
21
Fatal myocarditis and rhabdomyolysis induced by nivolumab during the treatment of type B3 thymoma. ( 29126352 )
2018
22
Necrotizing Autoimmune myopathy: A case report on statin induced rhabdomyolysis requiring immunosuppressive therapy. ( 30464165 )
2018
23
Sertraline-induced reversible myopathy with rhabdomyolysis and trismus. ( 29322993 )
2018
24
Assessment of the Risk of Rhabdomyolysis and Myopathy During Concomitant Treatment with Ticagrelor and Statins. ( 30003466 )
2018
25
Pembrolizumab-Induced Rhabdomyolysis With Myositis in a Patient With Lung Adenocarcinoma. ( 29496287 )
2018
26
Bilateral sciatic neuropathy with severe rhabdomyolysis following venlafaxine overdose: A case report. ( 30212953 )
2018
27
Rhabdomyolysis with Peripheral Neuropathy: A Case Series and Literature Review. ( 30361471 )
2018
28
Rhabdomyolysis revisited: Detailed analysis of magnetic resonance imaging findings and their correlation with peripheral neuropathy. ( 30113478 )
2018
29
Fluoxetine overdose in a teenager resulting in serotonin syndrome, seizure and delayed onset rhabdomyolysis. ( 30301727 )
2018
30
A Rare Case of Sunitinib-Induced Rhabdomyolysis in Renal Cell Carcinoma. ( 30123592 )
2018
31
Macrophage extracellular trap formation promoted by platelet activation is a key mediator of rhabdomyolysis-induced acute kidney injury. ( 29309057 )
2018
32
Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation. ( 30023301 )
2018
33
Severe Rhabdomyolysis as an Unusual Presentation of Primary Human Immunodeficiency Virus Infection. ( 30258740 )
2018
34
Carnitine Palmitoyltransferase II Deficiency (CPT II) Followed By Rhabdomyolysis and Acute Kidney Injury. ( 29731937 )
2018
35
Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt. ( 29744303 )
2018
36
Establishment of a drug-induced rhabdomyolysis mouse model by co-administration of ciprofloxacin and atorvastatin. ( 29679711 )
2018
37
Cluster of exertional rhabdomyolysis in three young women. ( 29680796 )
2018
38
Considerations in Postoperative Rhabdomyolysis in Prolonged Maxillofacial Surgery. ( 29684309 )
2018
39
Levetiracetam-induced rhabdomyolysis: the first Italian case. ( 29696399 )
2018
40
Rhabdomyolysis due to bacteremia from Enterobacter cowanii caused by a rose thorn prick. ( 29696688 )
2018
41
Update: Exertional rhabdomyolysis, active component, U.S. Armed Forces, 2013-2017. ( 29696984 )
2018
42
Risk factors for rhabdomyolysis with HMG-CoA reductase inhibitors identified using a postmarketing surveillance database in Japan
. ( 29701171 )
2018
43
Rosuvastatin-Induced Rhabdomyolysis - Possible Role of Ticagrelor and Patients' Pharmacogenetic Profile. ( 29734517 )
2018
44
Football Team Rhabdomyolysis: The Pain Beats the Gain and the Coach Is to Blame. ( 29738317 )
2018
45
Exertional rhabdomyolysis in carbonic anhydrase 12 deficiency. ( 29750650 )
2018
46
A case of rhabdomyolysis after kidney transplantation successfully managed with intensive continuous dialysis. ( 29765590 )
2018
47
Acute renal failure due to rhabdomyolysis. Renal replacement therapy with intermediate cut-off membranes (EMIC2). ( 29778556 )
2018
48
Delayed presentation of severe rhabdomyolysis leading to acute kidney injury following atorvastatin-gemfibrozil combination therapy: a case report. ( 29784023 )
2018
49
A dual role of miR-22 in rhabdomyolysis-induced acute kidney injury. ( 29791781 )
2018
50
Statins for primary prevention and rhabdomyolysis: A nationwide cohort study in France. ( 29799296 )
2018

Variations for Metabolic Encephalomyopathic Crises, Recurrent, with...

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

75
# Symbol AA change Variation ID SNP ID
1 TANGO2 p.Gly154Arg VAR_076912 rs752298579

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

6 (show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN4A NM_000334.4(SCN4A): c.4343G> A (p.Arg1448His) single nucleotide variant Pathogenic rs121908545 GRCh37 Chromosome 17, 62019299: 62019299
2 SCN4A NM_000334.4(SCN4A): c.4343G> A (p.Arg1448His) single nucleotide variant Pathogenic rs121908545 GRCh38 Chromosome 17, 63941939: 63941939
3 CPT2 NM_000098.2(CPT2): c.338C> T (p.Ser113Leu) single nucleotide variant Pathogenic rs74315294 GRCh37 Chromosome 1, 53668099: 53668099
4 CPT2 NM_000098.2(CPT2): c.338C> T (p.Ser113Leu) single nucleotide variant Pathogenic rs74315294 GRCh38 Chromosome 1, 53202427: 53202427
5 AHCY NM_000687.3(AHCY): c.428A> G (p.Tyr143Cys) single nucleotide variant Likely pathogenic rs121918608 GRCh37 Chromosome 20, 32880181: 32880181
6 AHCY NM_000687.3(AHCY): c.428A> G (p.Tyr143Cys) single nucleotide variant Likely pathogenic rs121918608 GRCh38 Chromosome 20, 34292375: 34292375
7 PFKM NM_001166686.1(PFKM): c.450+1G> A single nucleotide variant Pathogenic rs202143236 GRCh37 Chromosome 12, 48525177: 48525177
8 PFKM NM_001166686.1(PFKM): c.450+1G> A single nucleotide variant Pathogenic rs202143236 GRCh38 Chromosome 12, 48131394: 48131394
9 ACADVL NM_000018.3(ACADVL): c.1376G> A (p.Arg459Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751995154 GRCh37 Chromosome 17, 7127330: 7127330
10 ACADVL NM_000018.3(ACADVL): c.1376G> A (p.Arg459Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751995154 GRCh38 Chromosome 17, 7224011: 7224011
11 TANGO2 NM_152906.6(TANGO2): c.460G> A (p.Gly154Arg) single nucleotide variant Pathogenic rs752298579 GRCh37 Chromosome 22, 20049061: 20049061
12 TANGO2 NM_152906.6(TANGO2): c.460G> A (p.Gly154Arg) single nucleotide variant Pathogenic rs752298579 GRCh38 Chromosome 22, 20061538: 20061538
13 TANGO2 NM_152906.6(TANGO2): c.605+1G> A single nucleotide variant Pathogenic rs372949028 GRCh37 Chromosome 22, 20049207: 20049207
14 TANGO2 NM_152906.6(TANGO2): c.605+1G> A single nucleotide variant Pathogenic rs372949028 GRCh38 Chromosome 22, 20061684: 20061684
15 MYH3 NM_002470.3(MYH3): c.875C> G (p.Ser292Cys) single nucleotide variant Uncertain significance rs139480342 GRCh37 Chromosome 17, 10550522: 10550522
16 MYH3 NM_002470.3(MYH3): c.875C> G (p.Ser292Cys) single nucleotide variant Uncertain significance rs139480342 GRCh38 Chromosome 17, 10647205: 10647205
17 TANGO2 NM_152906.5(TANGO2): c.57-1743_*10769del deletion Pathogenic GRCh38 Chromosome 22, 20041612: 20075431
18 TANGO2 NM_152906.5(TANGO2): c.146-3605_451+2245del deletion Pathogenic GRCh38 Chromosome 22, 20048857: 20058261
19 TANGO2 NM_001283106.2(TANGO2): c.4delT (p.Cys2Alafs) deletion Pathogenic rs869320693 GRCh37 Chromosome 22, 20024325: 20024325
20 TANGO2 NM_001283106.2(TANGO2): c.4delT (p.Cys2Alafs) deletion Pathogenic rs869320693 GRCh38 Chromosome 22, 20036802: 20036802
21 TANGO2 NM_001283106.2(TANGO2): c.418C> T (p.Arg140Ter) single nucleotide variant Pathogenic rs764883927 GRCh37 Chromosome 22, 20043503: 20043503
22 TANGO2 NM_001283106.2(TANGO2): c.418C> T (p.Arg140Ter) single nucleotide variant Pathogenic rs764883927 GRCh38 Chromosome 22, 20055980: 20055980
23 ACADVL NM_001270447.1(ACADVL): c.1427G> A (p.Arg476Gln) single nucleotide variant Likely pathogenic rs138058572 GRCh38 Chromosome 17, 7223993: 7223993
24 ACADVL NM_001270447.1(ACADVL): c.1427G> A (p.Arg476Gln) single nucleotide variant Likely pathogenic rs138058572 GRCh37 Chromosome 17, 7127312: 7127312
25 TANGO2 NC_000022.10: g.20029135_20062954del33820 deletion Pathogenic GRCh37 Chromosome 22, 20029135: 20062954
26 AHCY NM_000687.3(AHCY): c.266C> T (p.Ala89Val) single nucleotide variant Uncertain significance rs755222515 GRCh38 Chromosome 20, 34294110: 34294110
27 AHCY NM_000687.3(AHCY): c.266C> T (p.Ala89Val) single nucleotide variant Uncertain significance rs755222515 GRCh37 Chromosome 20, 32881916: 32881916
28 CACNA1S NM_000069.2(CACNA1S): c.1678G> T (p.Ala560Ser) single nucleotide variant Likely pathogenic rs763794604 GRCh37 Chromosome 1, 201046197: 201046197
29 CACNA1S NM_000069.2(CACNA1S): c.1678G> T (p.Ala560Ser) single nucleotide variant Likely pathogenic rs763794604 GRCh38 Chromosome 1, 201077069: 201077069
30 PGAM2 NM_000290.3(PGAM2): c.637G> A (p.Gly213Arg) single nucleotide variant Likely pathogenic rs750422335 GRCh37 Chromosome 7, 44102488: 44102488
31 PGAM2 NM_000290.3(PGAM2): c.637G> A (p.Gly213Arg) single nucleotide variant Likely pathogenic rs750422335 GRCh38 Chromosome 7, 44062889: 44062889
32 RYR1 NM_000540.2(RYR1): c.179A> G (p.Asp60Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome 19, 38442362: 38442362
33 RYR1 NM_000540.2(RYR1): c.179A> G (p.Asp60Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome 19, 38933002: 38933002

Expression for Metabolic Encephalomyopathic Crises, Recurrent, with...

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

Pathways for Metabolic Encephalomyopathic Crises, Recurrent, with...

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.39 ACADVL AMPD1 CHKB CPT2 HMGCR PFKM
2
Show member pathways
11.37 CPT2 HMGCR PFKM
3
Show member pathways
10.52 ACADVL CHKB CPT2

GO Terms for Metabolic Encephalomyopathic Crises, Recurrent, with...

Biological processes related to Metabolic Encephalomyopathic 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 9.26 ACADVL CHKB CPT2 HMGCR
2 fatty acid beta-oxidation GO:0006635 9.16 ACADVL CPT2
3 glycogen catabolic process GO:0005980 8.62 PFKM PYGM

Sources for Metabolic Encephalomyopathic Crises, Recurrent, with...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....