PEERB
MCID: ENC067
MIFTS: 55

Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis (PEERB)

Categories: Genetic diseases

Aliases & Classifications for Encephalopathy, Progressive, Early-Onset, with Episodic...

MalaCards integrated aliases for Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:

Name: Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 56 73 6
Rhabdomyolysis 43 17
Peerb 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
two unrelated patients have been reported (last curated february 2019)
episodic exacerbation associated with illness


HPO:

31
encephalopathy, progressive, early-onset, with episodic rhabdomyolysis:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:



Summaries for Encephalopathy, Progressive, Early-Onset, with Episodic...

UniProtKB/Swiss-Prot : 73 Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis: An autosomal recessive disease characterized by progressive encephalopathy exacerbated by febrile illness and associated with severe neurodevelopmental delay, episodes of rhabdomyolysis, developmental regression, epilepsy and tetraplegia.

MalaCards based summary : Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis, also known as rhabdomyolysis, is related to mitochondrial trifunctional protein deficiency and acyl-coa dehydrogenase, very long-chain, deficiency of. An important gene associated with Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis is TRAPPC2L (Trafficking Protein Particle Complex 2 Like), and among its related pathways/superpathways are AMPK Enzyme Complex Pathway and Synthesis of PC. The drugs Sevoflurane and Telbivudine have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and skeletal muscle, and related phenotypes are cerebral visual impairment and developmental regression

More information from OMIM: 618331

Related Diseases for Encephalopathy, Progressive, Early-Onset, with Episodic...

Diseases related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 870)
# Related Disease Score Top Affiliating Genes
1 mitochondrial trifunctional protein deficiency 32.3 CPT2 ACADVL
2 acyl-coa dehydrogenase, very long-chain, deficiency of 32.2 CPT2 ACADVL
3 carnitine palmitoyltransferase ii deficiency, infantile 32.1 CPT2 ACADVL
4 myoglobinuria, recurrent 31.7 CPT2 ACADVL
5 carnitine-acylcarnitine translocase deficiency 31.3 CPT2 ACADVL
6 malignant hyperthermia 31.2 SCN4A PIK3C2A MB CPT2
7 neuroleptic malignant syndrome 31.2 PIK3C2A MB CHKB CHKA
8 glycogen storage disease v 31.1 PFKM MB CPT2 CHKB
9 myoglobinuria 30.9 PIK3C2A PFKM MB CPT2 ACADVL
10 acute kidney failure 30.8 PIK3C2A MB CPT2
11 compartment syndrome 30.6 PIK3C2A MB CHKB
12 acute kidney tubular necrosis 30.6 PIK3C2A MB
13 anuria 30.5 PIK3C2A MB
14 acyl-coa dehydrogenase deficiency 30.4 CHKA ACADVL
15 gas gangrene 30.4 PIK3C2A MB
16 pyomyositis 29.9 PIK3C2A MB
17 pericardial effusion 29.8 PIK3C2A ACADVL
18 muscular lipidosis 29.7 PIK3C2A CHKA
19 respiratory failure 29.6 PIK3C2A CPT2 ACADVL
20 virus associated hemophagocytic syndrome 29.5 PIK3C2A MB
21 glycogen storage disease 29.4 PFKM MB CPT2
22 multiple acyl-coa dehydrogenase deficiency 29.3 CPT2 CHKA ACADVL
23 angina pectoris 29.3 PIK3C2A MB
24 neuromuscular disease 29.2 SCN4A MB CHKB
25 intermediate coronary syndrome 29.2 PIK3C2A MB
26 acute myocardial infarction 29.2 PIK3C2A MB HMGCR
27 carnitine palmitoyltransferase i deficiency 29.2 CPT2 ACADVL
28 acyl-coa dehydrogenase, medium-chain, deficiency of 29.1 CPT2 ACADVL
29 pseudohyperkalemia, familial, 2, due to red cell leak 29.1 SCN4A PIK3C2A MB
30 carnitine deficiency, systemic primary 29.1 CPT2 ACADVL
31 myositis 29.1 PIK3C2A MB HMGCR CHKB CHKA
32 lipoprotein quantitative trait locus 28.7 PIK3C2A MB HMGCR
33 creatine phosphokinase, elevated serum 28.5 PIK3C2A MB HMGCR CHKB
34 muscular dystrophy 28.4 SCN4A PIK3C2A MB HMGCR CHKB CHKA
35 isolated elevated serum creatine phosphokinase levels 28.4 SCN4A PIK3C2A MB CPT2
36 propionic acidemia 28.4 CPT2 ACADVL
37 myopathy 27.4 SCN4A PIK3C2A PFKM MB HMGCR CPT2
38 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 12.7
39 myoglobinuria, acute recurrent, autosomal recessive 12.1
40 tango2-related metabolic encephalopathy and arrhythmias 12.1
41 glycogen storage disease xii 11.7
42 congenital cataracts, facial dysmorphism, and neuropathy 11.6
43 phosphoglycerate kinase 1 deficiency 11.5
44 central core disease of muscle 11.5
45 influenza 11.4
46 hypophosphatemia 11.4
47 metabolic myopathy 11.4
48 myopathy due to myoadenylate deaminase deficiency 11.4
49 malignant hyperthermia 1 11.4
50 myopathy - thyrotoxic 11.4

Graphical network of the top 20 diseases related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:



Diseases related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis

Symptoms & Phenotypes for Encephalopathy, Progressive, Early-Onset, with Episodic...

Human phenotypes related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 cerebral visual impairment 31 very rare (1%) HP:0100704
2 developmental regression 31 HP:0002376
3 elevated serum creatine kinase 31 HP:0003236
4 absent speech 31 HP:0001344
5 status epilepticus 31 HP:0002133
6 cerebral atrophy 31 HP:0002059
7 postnatal microcephaly 31 HP:0005484
8 tetraplegia 31 HP:0002445
9 inability to walk 31 HP:0002540
10 delayed myelination 31 HP:0012448
11 rhabdomyolysis 31 HP:0003201

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
developmental regression
absent speech
status epilepticus
tetraplegia
more
Muscle Soft Tissue:
rhabdomyolysis, episodic

Laboratory Abnormalities:
increased serum creatine kinase, episodic

Head And Neck Head:
microcephaly, acquired

Head And Neck Eyes:
cortical visual impairment (1 patient)

Clinical features from OMIM:

618331

GenomeRNAi Phenotypes related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.03 PIK3C2A
2 Decreased viability GR00055-A-2 10.03 PIK3C2A
3 Decreased viability GR00055-A-3 10.03 PIK3C2A
4 Decreased viability GR00221-A-1 10.03 CHKB PIK3C2A PFKM
5 Decreased viability GR00221-A-2 10.03 CHKA CHKB CPT2 PIK3C2A PFKM
6 Decreased viability GR00221-A-3 10.03 CHKB PFKM
7 Decreased viability GR00221-A-4 10.03 CHKA CHKB CPT2 PIK3C2A
8 Decreased viability GR00240-S-1 10.03 PIK3C2A
9 Decreased viability GR00249-S 10.03 PIK3C2A
10 Decreased viability GR00301-A 10.03 CHKB
11 Decreased viability GR00342-S-1 10.03 PIK3C2A
12 Decreased viability GR00342-S-2 10.03 CHKA PIK3C2A
13 Decreased viability GR00342-S-3 10.03 PIK3C2A
14 Decreased viability GR00386-A-1 10.03 CHKA
15 Decreased viability GR00402-S-2 10.03 CHKA CPT2
16 Decreased cell–culture–derived Hepatitis C virus (HCVcc; Luc–Jc1) infection GR00234-A-2 9.16 CHKA CHKB
17 Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection GR00234-A-1 9.13 CHKA CHKB PIK3C2A

MGI Mouse Phenotypes related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 ACADVL ANKRD11 CHKA CHKB CPT2 HMGCR
2 mortality/aging MP:0010768 9.61 ACADVL ANKRD11 CHKA CPT2 HMGCR MB
3 muscle MP:0005369 9.02 ACADVL CHKB MB PFKM SCN4A

Drugs & Therapeutics for Encephalopathy, Progressive, Early-Onset, with Episodic...

Drugs for Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 144)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
2
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
3
Colestipol Approved Phase 4 26658-42-4
4
Ezetimibe Approved Phase 4 163222-33-1 150311
5
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
6
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
7
Gemfibrozil Approved Phase 4 25812-30-0 3463
8
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
9
Amorolfine Approved, Investigational Phase 4 78613-35-1
10
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
11
Atorvastatin Approved Phase 4 134523-00-5 60823
12
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
13
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
14
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
15
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 4 303-98-0 5281915
16
Adefovir Investigational Phase 4 106941-25-7
17 Anesthetics, Inhalation Phase 4
18 Reverse Transcriptase Inhibitors Phase 4
19 Anti-Retroviral Agents Phase 4
20 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
21 Hypolipidemic Agents Phase 4
22 Lipid Regulating Agents Phase 4
23 Antimetabolites Phase 4
24 Anticholesteremic Agents Phase 4
25 Vitamins Phase 4
26 Micronutrients Phase 4
27 Nicotinic Acids Phase 4
28 Vitamin B Complex Phase 4
29 Vitamin B3 Phase 4
30 Vasodilator Agents Phase 4
31 Folate Phase 4
32 Nutrients Phase 4
33 Trace Elements Phase 4
34 Vitamin B9 Phase 4
35 Immunosuppressive Agents Phase 4
36 Liver Extracts Phase 4
37 Red Yeast Phase 4
38 Cytochrome P-450 Enzyme Inhibitors Phase 4
39 Red yeast rice Phase 4
40 Ubiquinone Phase 4
41 Analgesics, Non-Narcotic Phase 4
42 Analgesics Phase 4
43 Anesthetics Phase 4
44 Hypnotics and Sedatives Phase 4
45 Anesthetics, General Phase 4
46 Anesthetics, Intravenous Phase 4
47 Adrenergic alpha-Agonists Phase 4
48 Adrenergic Agents Phase 4
49 Adrenergic Agonists Phase 4
50
Simvastatin Approved Phase 2, Phase 3 79902-63-9 54454

Interventional clinical trials:

(show top 50) (show all 93)
# 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 Unknown status NCT03215446 Phase 4 maintenance of anaesthesia with propofol;maintenance of anaesthesia with sevoflurane
2 Telbivudine Renoprotective Effect in Patients With the HBV-related Liver Cirrhosis: a Randomized Controlled Trial Unknown status NCT01799486 Phase 4 Telbivudine;Enecavir;Adefovir
3 Living With Statins - The Impact of Cholesterol Lowering Drugs on Health, Lifestyle and Well-being Unknown status NCT02796378 Phase 4 Training+Simvastatin+Q10-placebo;Training+Simvastatin-placebo+Q10-placebo;Training+Simvastatin+Q10
4 A Prospective, Open Label Comparison of Ezetimibe, Niacin, and Colestipol as Adjunct Therapy in Lipid Reduction Completed NCT00203476 Phase 4 Niacin;Colestipol;Ezetimibe
5 The Impact of Ezetimibe on Biochemical Markers of Cardiovascular Risk in Kidney Transplant Patients Completed NCT02103049 Phase 4 Ezetimibe
6 Effect of Gemfibrozil on the Safety and Pharmacokinetics of Red Yeast Rice in Healthy Subjects Completed NCT01385020 Phase 4 Gemfibrozil & red yeast rice (LipoCol)
7 The Effects of Melatonin on Elevated Liver Enzymes During Statins Treatment Completed NCT03121521 Phase 4 Melatonin 10 mg;Placebo
8 Living With Statins - The Impact of Cholesterol Lowering Drugs on Health, Lifestyle and Well-being Completed NCT02255682 Phase 4 Simvastatin
9 A Series of Randomised Controlled N-of 1 Trials in Patients Who Have Discontinued or Are Considering Discontinuing Statin Use Due to Muscle-related Symptoms to Assess if Atorvastatin Treatment Causes More Muscle Symptoms Than Placebo Completed NCT02781064 Phase 4 Atorvastatin 20mg;Placebo
10 Early Effect Of Bezafibrate On Fibrinogen Levels, Inflammatory Response And Clinical Impact, In Patients With ST Elevation Acute Myocardial Infarction Completed NCT02291796 Phase 4 Bezafibrate
11 Comparison of the Efficacy and Safety Between Long-pulsed Nd:YAG, Amorolfine and Combination of Long-pulsed Nd:YAG and Amorolfine in Treating Non-dermatophyte and Mixed-infection Onychomycosis Recruiting NCT02812043 Phase 4 Amorolfine
12 Comparison of Propofol and Dexmedetomidine to Treat Hyperactive and Mixed ICU Delirium - the Basel ProDex Randomized Trial Recruiting NCT02807467 Phase 4 Dexmedetomidine;Propofol
13 Double Blind, Prospective Randomized, Crossover Study of Patients With Muscle Complaints on Statin Therapy Terminated NCT00127335 Phase 4 cellulose placebo vs. atorvastatin
14 Clinical Trial on the Effect of Bezafibrate in the Muscular Form of Carnitine Palmitoyltransferase 2 Deficiency Unknown status NCT00336167 Phase 3 bezafibrate (drug)
15 Evaluation of the Effect of NICOtinic Acid (Niacin) on Elevated Lipoprotein(a) Levels (NICOLa Study) Unknown status NCT00633698 Phase 3 Nicotinic acid (niacin);Placebo
16 Effect of Paracetamol on Renal Function in Plasmodium Knowlesi Malaria: A Randomised Controlled Clinical Trial Completed NCT03056391 Phase 3 Paracetamol
17 Effect of 80-mg Atorvastatin on Myocardial Edema Following Coronary Artery Bypass Surgery in Relation With Follistatin-Like Protein-1 Completed NCT02901379 Phase 3 Atorvastatin 80mg;Atorvastatin 10mg
18 Effect of Vitamin D Supplementation on Exercise Adaptations in Patients on Statin Therapy Completed NCT02030041 Phase 3 Vitamin D;Simvastatin;Placebo
19 High-dose Simvastatin for Aneurysmal Subarachnoid Haemorrhage: Is it Better? Completed NCT01077206 Phase 2, Phase 3 Simvastatin
20 Renal Effects of Fluid Resuscitation With Plasmalyte Viaflo Versus Saline in Trauma Patients (the ASTRAU Study) Recruiting NCT03630224 Phase 3 Plasmalyte Viaflo;NaCl 0.9%
21 Treatment of Graves´Ophthalmopathy With Simvastatin (GO-DS) Recruiting NCT03131726 Phase 3 Simvastatin 40mg
22 Estudio clínico Fase III Para Evaluar la Eficacia terapéutica en Pacientes Mexicanos Con Dislipidemia Mediante el Uso vía Oral de L-Carnitina + Atorvastatina Comparado Con Atorvastatina Active, not recruiting NCT03696940 Phase 3 L-Carnitine 500Mg Oral Tablet + Atorvastatin 10 mg;Atorvastatin 10mg
23 Evaluating the Renoprotective Effect of Paracetamol in Paediatric Severe Malaria: a Randomised Controlled Trial Not yet recruiting NCT04251351 Phase 3 Paracetamol
24 Study to Evaluate the Effectiveness of Dietary Treatment With Triheptanoin in Patients With Long-chain Fatty Acid Beta-oxidation Defects Withdrawn NCT02201368 Phase 3 Triheptanoin (SpezialölÒ 107®)
25 Extracorporeal Therapy for the Removal of Myoglobin Using the CytoSorb in Patients With Rhabdomyolysis Unknown status NCT02111018 Phase 2
26 Single Arm Phase 2 Study of Metformin and Simvastatin in Addition to Fulvestrant in Metastatic Estrogen Receptor Positive Breast Cancer Unknown status NCT03192293 Phase 2 Metformin/Simvastatin/Fulvestrant
27 A Randomized Factorial Trial of N-Acetylcysteine and Continuous Veno-Venous Hemo(Dia)Filtration for Rhabdomyolysis Completed NCT00391911 Phase 2 N-Acetylcysteine
28 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
29 A Double-blind, Randomized Study to Evaluate the Efficacy and Safety of TAK-475 or Placebo When Coadministered With Fenofibrate in Subjects With Combined Hyperlipidemia Completed NCT00813527 Phase 2 Lapaquistat acetate and fenofibrate;Fenofibrate
30 A Phase II Pilot Study to Explore Treatment With Sodium Valproate in Adults With McArdle Disease (Glycogen Storage Disorder Type V, GSDV) Completed NCT03112889 Phase 2 Sodium Valproate
31 Determination of the Efficacy and Feasibility of Simvastatin as Inhibitor of Cell Adhesion Mediated Drug Resistance in Patients With Refractory Multiple Myeloma – a Phase II Clinical Trial. Completed NCT00399867 Phase 2 Simvastatin
32 Evaluation of the Effect of Bezafibrate on Muscle Metabolism During Exercise in Patients With CPTII and VLCAD Deficiency Completed NCT00983788 Phase 2 Bezafibrate
33 Treatment of Newly Diagnosed Moderate or Severe Chronic Graft-versus-host Disease With Prednisone and Everolimus (PredEver First) - A Prospective Multicenter Phase IIA Study - Completed NCT01862965 Phase 2 PredEver
34 Randomized, Placebo Controlled, Pilot Trial of Statin Use in Burn Patients Completed NCT00978419 Phase 2 Rosuvastatin;Placebo
35 STAT (STatins and Aspirin in Trauma) Trial: A Phase II, Pragmatic, Prospective, Randomized, Double-blind, Adaptive Clinical Trial Examining the Efficacy of Statins and Aspirin in the Reduction of Acute Lung Injury and Venous Thromboembolism in Patients With Fibrinolysis Shutdown Recruiting NCT02901067 Phase 2 Aspirin and Rosuvastatin;Placebo (for Aspirin and Rosuvastatin)
36 COlchicine in Moderate-severe Hospitalized Patients Before ARDS to Treat COVID-19 (the COMBAT-COVID-19 Pilot Study) Recruiting NCT04363437 Phase 2 Colchicine;Usual Care
37 Triheptanoin's Effect on Fatty Acid Oxidation and Exercise Tolerance in Patients With Debrancher Deficiency, Glycogenin-1 Deficiency and Phosphofructoinase Deficiency at Rest and During Exercise. A Randomized, Double-blind, Placebo-controlled, Cross-over Study Recruiting NCT03642860 Phase 2 Triheptanoin;Placebo Oil
38 Pharmacokinetic Drug Interaction Between Ezetimibe and Tacrolimus After Single Dose Administration in Healthy Subjects Completed NCT00621699 Phase 1 1 tablet Ezetrol(R) (ezetimibe), MSD Sharp & Dohme GmbH, Germany;1 capsule Prograf(R) (tacrolimus), Astellas Pharma GmbH, Germany;1 tablet Ezetrol(R) + 1 capsules Prograf(R)
39 Pharmacokinetic Drug Interaction Between Ezetimibe and Sirolimus After Single Dose Administration in Healthy Subjects Completed NCT00621101 Phase 1 1 tablet Ezetrol(R) (ezetimibe), MSD Sharp & Dohme GmbH, Germany;1 tablet Rapamune(R) (sirolimus), Wyeth Pharma, Germany;1 tablet Ezetrol(R) + 1 tablet Rapamune(R)
40 The Underlying Mechanisms From Exercise-induced Muscle Damage on Force Loss Terminated NCT02125643 Phase 1 Caffeine
41 Rhabdomyolysis - A Retrospective Study in Hospitalized Patients Unknown status NCT01022450
42 Exertional Rhabdomyolysis- Characterization of Prediction Tests for Return to Duty Unknown status NCT02498366
43 Association Analysis Between Single Nucleotide Polymorphisms in Statin-Related Genes and The Incidence of Myopathy Among Statin-Treated Patients Unknown status NCT00549029
44 The Effect of Remote Ischemic Preconditioning (RIPC) on Physical Performance and Exertional Rhabdomyolysis Unknown status NCT02518724
45 Using Cinacalcet to Treat the Hypophosphatemia of Early Kidney Transplant Unknown status NCT01011114 Cinacalcet;Placebo
46 Fluid Shifts During Resuscitation: Impacts on Macrocirculation and Microcirculation Unknown status NCT00326729
47 Incidence of Rhabdomyolysis Among Pediatric and Adolescent Patients Admitted for Jimsonweed (Datura Stramonium) Ingestions Completed NCT00592657
48 Exercise-induced Collective Rhabdomyolysis Completed NCT03737513
49 Plasma Neutrophil Gelatinase Associated Lipocalin (NGAL) Levels During Emergency Management of Rhabdomyolysis: Predicting Renal Failure Completed NCT01544231
50 Pharmacoepidemiology and Pharmacogenetics of a Statin Adverse Event Completed NCT00241748

Search NIH Clinical Center for Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis

Cochrane evidence based reviews: rhabdomyolysis

Genetic Tests for Encephalopathy, Progressive, Early-Onset, with Episodic...

Anatomical Context for Encephalopathy, Progressive, Early-Onset, with Episodic...

MalaCards organs/tissues related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:

40
Kidney, Liver, Skeletal Muscle, Heart, Testes, Bone, Lung

Publications for Encephalopathy, Progressive, Early-Onset, with Episodic...

Articles related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:

(show top 50) (show all 7742)
# Title Authors PMID Year
1
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. 6 56 61
30120216 2018
2
Elevations of creatine kinase in patients treated with imatinib mesylate (Gleevec). 61 54
19963273 2010
3
The genetics of statin-induced myopathy. 61 54
20042189 2010
4
Perioperative cardiac arrest in a patient with previously undiagnosed Becker's muscular dystrophy after isoflurane anaesthesia for elective surgery. 54 61
20190256 2010
5
Muscle toxicity with statins. 61 54
20014178 2010
6
Community acquired methicillin-resistant Staphylococcus aureus pneumonia leading to rhabdomyolysis: a case report. 61 54
20205915 2010
7
The risk for significant creatine kinase elevation with statins. 54 61
20524720 2010
8
Utility of urine myoglobin for the prediction of acute renal failure in patients with suspected rhabdomyolysis: a systematic review. 54 61
19797717 2009
9
Neuroleptic malignant syndrome or a statin drug reaction? A case report. 54 61
19952877 2009
10
Genetic variation in RYR1 and malignant hyperthermia phenotypes. 54 61
19648156 2009
11
Short term treatment with clarithromycin resulting in colchicine-induced rhabdomyolysis. 61 54
19734738 2009
12
The modern spectrum of rhabdomyolysis: drug toxicity revealed by creatine kinase screening. 54 61
19534642 2009
13
Myoglobin causes oxidative stress, increase of NO production and dysfunction of kidney's mitochondria. 54 61
19545623 2009
14
Sertraline-induced rhabdomyolysis in an elderly patient with dementia and comorbidities. 61 54
19567656 2009
15
Rhabdomyolysis and acute renal failure associated with the co-administration of daptomycin and an HMG-CoA reductase inhibitor. 61 54
19346518 2009
16
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. 54 61
19327992 2009
17
Genetic analysis of ryanodine receptor 1 gene and carnitine palmitoyltransferase II gene: an autopsy case of neuroleptic malignant syndrome related to vegetamin. 61 54
19269221 2009
18
Managing statin myopathy. 54 61
19217515 2009
19
Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy. 54 61
19156135 2009
20
Should high creatine kinase discourage the initiation or continuance of statins for the treatment of hypercholesterolemia? 54 61
19154957 2009
21
In-vitro myoglobin clearance by a novel sorbent system. 61 54
19132637 2009
22
Crush syndrome due to drug-induced compartment syndrome: a rare condition not to be overlooked. 61 54
19562441 2009
23
[Rhabdomyolysis due to muscle enzyme deficiencies]. 61 54
19240776 2009
24
Increased creatinine kinase and rhabdomyolysis in anorexia nervosa. 54 61
18521917 2008
25
[Severe hypokalemia after holidays return]. 61 54
19055123 2008
26
The creatine kinase response to eccentric exercise with atorvastatin 10 mg or 80 mg. 54 61
18261731 2008
27
Excellent outcome using "impaired" standard criteria donors with elevated serum creatinine. 61 54
18492072 2008
28
Acute kidney injury due to rhabdomyolysis. 54 61
18711286 2008
29
Rhabdomyolysis and pancreatitis associated with coadministration of danazol 600 mg/d and lovastatin 40 mg/d. 54 61
18691993 2008
30
Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy. 61 54
18645163 2008
31
Severe rhabdomyolysis with hypoglycemia in an adult patient with carnitine palmitoyltransferase II deficiency. 54 61
18471680 2008
32
No carnitine palmitoyltransferase deficiency in skeletal muscle in 18 malignant hyperthermia susceptible individuals. 61 54
18430572 2008
33
Daptomycin-induced acute renal and hepatic toxicity without rhabdomyolysis. 61 54
18381844 2008
34
Complications of heroin abuse. 61 54
18446076 2008
35
Rhabdomyolysis, renal failure, pericardial effusion, and acquired von Willebrand disease resulting from hypothyroidism in a 10-year-old girl. 54 61
18341381 2008
36
Mitochondria, PPARs, and Cancer: Is Receptor-Independent Action of PPAR Agonists a Key? 54 61
18645611 2008
37
Influence of regulatory measures on the rate of spontaneous adverse drug reaction reporting in Italy. 61 54
18558794 2008
38
On the mechanisms underlying poisoning-induced rhabdomyolysis and acute renal failure. 61 54
20020858 2008
39
The safety of statins in clinical practice. 61 54
17559928 2007
40
Rhabdomyolysis. 54 61
17909702 2007
41
Effect of rosuvastatin 5-20mg on triglycerides and other lipid parameters in Japanese patients with hypertriglyceridemia. 61 54
17223112 2007
42
[Is every case of muscle damage during hypolipemic therapy the side effect of this therapy? A case report]. 61 54
18320790 2007
43
Rhabdomyolysis among acute human poisoning cases. 54 61
17884958 2007
44
[Case of hemoglobinuria following glycerin enema]. 61 54
17571610 2007
45
Cardiospecificity of the 3rd generation cardiac troponin T assay during and after a 216 km ultra-endurance marathon run in Death Valley. 54 61
17453141 2007
46
Ferryl haem protonation gates peroxidatic reactivity in globins. 61 54
17214588 2007
47
[Acute renal failure in a prisoner after hunger strike]. 61 54
17668581 2007
48
Genetic determinants of statin intolerance. 61 54
17376224 2007
49
Meta-analysis of drug-induced adverse events associated with intensive-dose statin therapy. 54 61
17472818 2007
50
Rhabdomyolysis: another complication after prolonged surgery. 54 61
17321931 2007

Variations for Encephalopathy, Progressive, Early-Onset, with Episodic...

ClinVar genetic disease variations for Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:

6 (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRAPPC2L NM_001318526.2(TRAPPC2L):c.-10G>TSNV Pathogenic 619097 rs766510287 16:88925102-88925102 16:88858694-88858694
2 TRAPPC2L NM_013275.6(ANKRD11):c.4145dup (p.Gly1384fs)duplication Pathogenic 803286 16:89348804-89348805 16:89282396-89282397
3 TRAPPC2L NM_013275.6(ANKRD11):c.3603dup (p.Phe1202fs)duplication Pathogenic 803287 16:89349346-89349347 16:89282938-89282939
4 ACADVL NM_000018.4(ACADVL):c.37C>T (p.Gln13Ter)SNV Pathogenic 812785 17:7123340-7123340 17:7220021-7220021
5 SCN4A NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)SNV Pathogenic 5899 rs121908545 17:62019299-62019299 17:63941939-63941939
6 ACADVL NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)SNV Pathogenic/Likely pathogenic 1634 rs118204016 17:7127303-7127303 17:7223984-7223984
7 PFKM NM_000289.6(PFKM):c.237+1G>ASNV Pathogenic/Likely pathogenic 189239 rs202143236 12:48525177-48525177 12:48131394-48131394
8 ACADVL NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)SNV Pathogenic/Likely pathogenic 203585 rs751995154 17:7127330-7127330 17:7224011-7224011
9 ACADVL NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)SNV Pathogenic/Likely pathogenic 374123 rs138058572 17:7127312-7127312 17:7223993-7223993
10 ANKRD11 , TRAPPC2L NM_013275.6(ANKRD11):c.7180C>T (p.Gln2394Ter)SNV Likely pathogenic 217881 rs863225296 16:89345770-89345770 16:89279362-89279362
11 AHCY NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys)SNV Likely pathogenic 12953 rs121918608 20:32880181-32880181 20:34292375-34292375
12 TRAPPC2L NM_013275.6(ANKRD11):c.7822C>T (p.Arg2608Trp)SNV Likely pathogenic 803285 16:89335056-89335056 16:89268648-89268648
13 CACNA1S NM_000069.3(CACNA1S):c.1678G>T (p.Ala560Ser)SNV Likely pathogenic 548652 rs763794604 1:201046197-201046197 1:201077069-201077069
14 PGAM2 NM_000290.4(PGAM2):c.637G>A (p.Gly213Arg)SNV Likely pathogenic 548650 rs750422335 7:44102488-44102488 7:44062889-44062889
15 RYR1 NM_000540.2(RYR1):c.179A>G (p.Asp60Gly)SNV Likely pathogenic 548651 rs1555762532 19:38933002-38933002 19:38442362-38442362
16 CPT2 NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)SNV Conflicting interpretations of pathogenicity 8953 rs74315294 1:53668099-53668099 1:53202427-53202427
17 AHCY NM_000687.4(AHCY):c.266C>T (p.Ala89Val)SNV Uncertain significance 522065 rs755222515 20:32881916-32881916 20:34294110-34294110
18 CPT2 NM_000098.3(CPT2):c.1766C>T (p.Thr589Met)SNV Uncertain significance 804352 rs756414686 1:53679056-53679056 1:53213384-53213384
19 HERC2 NM_004667.5(HERC2):c.5045A>G (p.Asn1682Ser)SNV Uncertain significance 599009 rs140073033 15:28474681-28474681 15:28229535-28229535
20 RYR1 NM_000540.2(RYR1):c.1312G>C (p.Glu438Gln)SNV Uncertain significance 599010 rs765668209 19:38943526-38943526 19:38452886-38452886
21 MYH3 NM_002470.4(MYH3):c.875C>G (p.Ser292Cys)SNV Uncertain significance 211557 rs139480342 17:10550522-10550522 17:10647205-10647205
22 ANKRD11 , TRAPPC2L NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn)SNV Likely benign 585399 rs144947610 16:89371704-89371704 16:89305296-89305296
23 ANKRD11 , TRAPPC2L NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro)SNV Likely benign 588478 rs143743958 16:89347318-89347318 16:89280910-89280910

UniProtKB/Swiss-Prot genetic disease variations for Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:

73
# Symbol AA change Variation ID SNP ID
1 TRAPPC2L p.Asp37Tyr VAR_081978 rs766510287

Expression for Encephalopathy, Progressive, Early-Onset, with Episodic...

Search GEO for disease gene expression data for Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis.

Pathways for Encephalopathy, Progressive, Early-Onset, with Episodic...

Pathways related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.37 PFKM HMGCR CPT2
2 10.6 CHKB CHKA
3
Show member pathways
10.52 CPT2 CHKB ACADVL

GO Terms for Encephalopathy, Progressive, Early-Onset, with Episodic...

Cellular components related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.23 TRAPPC2L PIK3C2A PFKM MB CHKB CHKA

Biological processes related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.62 PIK3C2A PFKM CHKB CHKA
2 phospholipid biosynthetic process GO:0008654 9.4 CHKB CHKA
3 fatty acid beta-oxidation GO:0006635 9.37 CPT2 ACADVL
4 phosphatidylcholine biosynthetic process GO:0006656 9.26 CHKB CHKA
5 phosphatidylethanolamine biosynthetic process GO:0006646 9.16 CHKB CHKA
6 lipid metabolic process GO:0006629 9.02 HMGCR CPT2 CHKB CHKA ACADVL
7 CDP-choline pathway GO:0006657 8.96 CHKB CHKA

Molecular functions related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.46 PIK3C2A PFKM CHKB CHKA
2 ethanolamine kinase activity GO:0004305 8.96 CHKB CHKA
3 choline kinase activity GO:0004103 8.62 CHKB CHKA

Sources for Encephalopathy, Progressive, Early-Onset, with Episodic...

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