PEERB
MCID: ENC067
MIFTS: 51

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 57 72 6
Rhabdomyolysis 44 17
Peerb 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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 : 72 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 myoglobinuria, recurrent. An important gene associated with Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis is TRAPPC2L (Trafficking Protein Particle Complex Subunit 2L), and among its related pathways/superpathways are Mitochondrial LC-Fatty Acid Beta-Oxidation and Netrin Signaling. The drugs Sevoflurane and Propofol 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 tetraplegia

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 922)
# Related Disease Score Top Affiliating Genes
1 mitochondrial trifunctional protein deficiency 31.8 CPT2 ACADVL
2 myoglobinuria, recurrent 31.7 CPT2 ACADVL
3 acyl-coa dehydrogenase, very long-chain, deficiency of 31.7 DLG4 CPT2 ACADVL
4 carnitine palmitoyltransferase ii deficiency, infantile 31.7 CPT2 ACADVL
5 central core disease of muscle 31.6 RYR1 CACNA1S
6 myoglobinuria 31.6 PFKM CPT2 ACADVL
7 malignant hyperthermia 31.5 RYR1 CPT2 CACNA1S
8 glycogen storage disease v 31.4 RYR1 PFKM CPT2
9 carnitine-acylcarnitine translocase deficiency 31.4 CPT2 ACADVL
10 malignant hyperthermia susceptibility 30.3 RYR1 CACNA1S
11 respiratory failure 30.1 RYR1 CPT2 ACADVL
12 glycogen storage disease 29.8 PFKM DBNL CPT2
13 carnitine palmitoyltransferase i deficiency 29.6 CPT2 ACADVL
14 acyl-coa dehydrogenase, medium-chain, deficiency of 29.6 CPT2 ACADVL
15 carnitine deficiency, systemic primary 29.5 CPT2 ACADVL
16 myopathy 29.3 RYR1 PFKM MYH3 GH-LCR CPT2 CACNA1S
17 hyperkalemic periodic paralysis 29.2 RYR1 GH-LCR CACNA1S
18 hypokalemic periodic paralysis, type 1 29.2 RYR1 GH-LCR CACNA1S
19 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 11.8
20 myoglobinuria, acute recurrent, autosomal recessive 11.4
21 tango2-related metabolic encephalopathy and arrhythmias 11.3
22 glycogen storage disease xii 11.1
23 congenital cataracts, facial dysmorphism, and neuropathy 11.1
24 acute kidney failure 11.1
25 phosphoglycerate kinase 1 deficiency 11.0
26 kidney disease 11.0
27 neuroleptic malignant syndrome 11.0
28 hypophosphatemia 10.9
29 metabolic myopathy 10.9
30 influenza 10.9
31 malignant hyperthermia 1 10.9
32 myopathy due to myoadenylate deaminase deficiency 10.9
33 myopathy - thyrotoxic 10.8
34 marinesco-sjogren syndrome 10.8
35 carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced 10.8
36 brody myopathy 10.8
37 arthrogryposis, distal, type 2a 10.8
38 myopathy with lactic acidosis, hereditary 10.8
39 malignant hyperthermia 5 10.8
40 congenital disorder of glycosylation, type it 10.8
41 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 10.8
42 stac3 disorder 10.8
43 lactate dehydrogenase deficiency 10.8
44 myopathy with deficiency of iron-sulfur cluster assembly enzyme 10.8
45 multiminicore disease 10.8
46 compartment syndrome 10.7
47 hypokalemia 10.6
48 hypothyroidism 10.6
49 myositis 10.5
50 ocular motor apraxia 10.5

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 tetraplegia 31 HP:0002445
3 developmental regression 31 HP:0002376
4 absent speech 31 HP:0001344
5 elevated serum creatine kinase 31 HP:0003236
6 status epilepticus 31 HP:0002133
7 cerebral atrophy 31 HP:0002059
8 postnatal microcephaly 31 HP:0005484
9 inability to walk 31 HP:0002540
10 delayed myelination 31 HP:0012448
11 rhabdomyolysis 31 HP:0003201

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
tetraplegia
developmental regression
absent speech
status epilepticus
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 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.61 ACADVL AHCY ANKRD11 CACNA1S DBNL DLG4
2 mortality/aging MP:0010768 9.28 ACADVL AHCY ANKRD11 CACNA1S CPT2 DBNL

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 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 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, Bone, Thyroid, Brain

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

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

(show top 50) (show all 8155)
# Title Authors PMID Year
1
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. 61 57 6
30120216 2018
2
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 61 6
28779239 2017
3
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
4
Elevations of creatine kinase in patients treated with imatinib mesylate (Gleevec). 61 54
19963273 2010
5
The genetics of statin-induced myopathy. 61 54
20042189 2010
6
Perioperative cardiac arrest in a patient with previously undiagnosed Becker's muscular dystrophy after isoflurane anaesthesia for elective surgery. 54 61
20190256 2010
7
Muscle toxicity with statins. 54 61
20014178 2010
8
Community acquired methicillin-resistant Staphylococcus aureus pneumonia leading to rhabdomyolysis: a case report. 61 54
20205915 2010
9
The risk for significant creatine kinase elevation with statins. 61 54
20524720 2010
10
Utility of urine myoglobin for the prediction of acute renal failure in patients with suspected rhabdomyolysis: a systematic review. 61 54
19797717 2009
11
Neuroleptic malignant syndrome or a statin drug reaction? A case report. 54 61
19952877 2009
12
Genetic variation in RYR1 and malignant hyperthermia phenotypes. 54 61
19648156 2009
13
Short term treatment with clarithromycin resulting in colchicine-induced rhabdomyolysis. 61 54
19734738 2009
14
The modern spectrum of rhabdomyolysis: drug toxicity revealed by creatine kinase screening. 54 61
19534642 2009
15
Myoglobin causes oxidative stress, increase of NO production and dysfunction of kidney's mitochondria. 61 54
19545623 2009
16
Sertraline-induced rhabdomyolysis in an elderly patient with dementia and comorbidities. 54 61
19567656 2009
17
Rhabdomyolysis and acute renal failure associated with the co-administration of daptomycin and an HMG-CoA reductase inhibitor. 54 61
19346518 2009
18
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. 54 61
19327992 2009
19
Genetic analysis of ryanodine receptor 1 gene and carnitine palmitoyltransferase II gene: an autopsy case of neuroleptic malignant syndrome related to vegetamin. 54 61
19269221 2009
20
Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy. 61 54
19156135 2009
21
Managing statin myopathy. 61 54
19217515 2009
22
Should high creatine kinase discourage the initiation or continuance of statins for the treatment of hypercholesterolemia? 61 54
19154957 2009
23
[Rhabdomyolysis due to muscle enzyme deficiencies]. 61 54
19240776 2009
24
Crush syndrome due to drug-induced compartment syndrome: a rare condition not to be overlooked. 54 61
19562441 2009
25
In-vitro myoglobin clearance by a novel sorbent system. 61 54
19132637 2009
26
Increased creatinine kinase and rhabdomyolysis in anorexia nervosa. 61 54
18521917 2008
27
Acute kidney injury due to rhabdomyolysis. 54 61
18711286 2008
28
The creatine kinase response to eccentric exercise with atorvastatin 10 mg or 80 mg. 61 54
18261731 2008
29
Excellent outcome using "impaired" standard criteria donors with elevated serum creatinine. 61 54
18492072 2008
30
[Severe hypokalemia after holidays return]. 61 54
19055123 2008
31
Rhabdomyolysis and pancreatitis associated with coadministration of danazol 600 mg/d and lovastatin 40 mg/d. 54 61
18691993 2008
32
Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy. 54 61
18645163 2008
33
No carnitine palmitoyltransferase deficiency in skeletal muscle in 18 malignant hyperthermia susceptible individuals. 54 61
18430572 2008
34
Severe rhabdomyolysis with hypoglycemia in an adult patient with carnitine palmitoyltransferase II deficiency. 54 61
18471680 2008
35
Daptomycin-induced acute renal and hepatic toxicity without rhabdomyolysis. 54 61
18381844 2008
36
Complications of heroin abuse. 61 54
18446076 2008
37
Rhabdomyolysis, renal failure, pericardial effusion, and acquired von Willebrand disease resulting from hypothyroidism in a 10-year-old girl. 54 61
18341381 2008
38
On the mechanisms underlying poisoning-induced rhabdomyolysis and acute renal failure. 54 61
20020858 2008
39
Mitochondria, PPARs, and Cancer: Is Receptor-Independent Action of PPAR Agonists a Key? 54 61
18645611 2008
40
Influence of regulatory measures on the rate of spontaneous adverse drug reaction reporting in Italy. 54 61
18558794 2008
41
The safety of statins in clinical practice. 54 61
17559928 2007
42
Rhabdomyolysis. 61 54
17909702 2007
43
[Is every case of muscle damage during hypolipemic therapy the side effect of this therapy? A case report]. 54 61
18320790 2007
44
Effect of rosuvastatin 5-20mg on triglycerides and other lipid parameters in Japanese patients with hypertriglyceridemia. 54 61
17223112 2007
45
Rhabdomyolysis among acute human poisoning cases. 61 54
17884958 2007
46
[Case of hemoglobinuria following glycerin enema]. 54 61
17571610 2007
47
Cardiospecificity of the 3rd generation cardiac troponin T assay during and after a 216 km ultra-endurance marathon run in Death Valley. 61 54
17453141 2007
48
Ferryl haem protonation gates peroxidatic reactivity in globins. 54 61
17214588 2007
49
Genetic determinants of statin intolerance. 54 61
17376224 2007
50
[Acute renal failure in a prisoner after hunger strike]. 61 54
17668581 2007

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

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

6 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACADVL , DLG4 NM_000018.4(ACADVL):c.37C>T (p.Gln13Ter) SNV Pathogenic 812785 rs63750670 GRCh37: 17:7123340-7123340
GRCh38: 17:7220021-7220021
2 TRAPPC2L NM_001318526.2(TRAPPC2L):c.-10G>T SNV Pathogenic 619097 rs766510287 GRCh37: 16:88925102-88925102
GRCh38: 16:88858694-88858694
3 TRAPPC2L , ANKRD11 NM_013275.6(ANKRD11):c.4145dup (p.Gly1384fs) Duplication Pathogenic 803286 rs1597453026 GRCh37: 16:89348804-89348805
GRCh38: 16:89282396-89282397
4 TRAPPC2L , ANKRD11 NM_013275.6(ANKRD11):c.3603dup (p.Phe1202fs) Duplication Pathogenic 803287 rs1597455532 GRCh37: 16:89349346-89349347
GRCh38: 16:89282938-89282939
5 ACADVL NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) SNV Pathogenic 1634 rs118204016 GRCh37: 17:7127303-7127303
GRCh38: 17:7223984-7223984
6 DBNL , PGAM2 NM_000290.4(PGAM2):c.637G>A (p.Gly213Arg) SNV Likely pathogenic 548650 rs750422335 GRCh37: 7:44102488-44102488
GRCh38: 7:44062889-44062889
7 ACADVL NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) SNV Likely pathogenic 374123 rs138058572 GRCh37: 17:7127312-7127312
GRCh38: 17:7223993-7223993
8 CPT2 NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) SNV Likely pathogenic 8953 rs74315294 GRCh37: 1:53668099-53668099
GRCh38: 1:53202427-53202427
9 PFKM NM_000289.6(PFKM):c.237+1G>A SNV Likely pathogenic 189239 rs202143236 GRCh37: 12:48525177-48525177
GRCh38: 12:48131394-48131394
10 GH-LCR , SCN4A NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) SNV Likely pathogenic 5899 rs121908545 GRCh37: 17:62019299-62019299
GRCh38: 17:63941939-63941939
11 TRAPPC2L NM_016209.5(TRAPPC2L):c.5C>G (p.Ala2Gly) SNV Likely pathogenic 932239 rs751046231 GRCh37: 16:88923563-88923563
GRCh38: 16:88857155-88857155
12 TRAPPC2L , ANKRD11 NM_013275.6(ANKRD11):c.7822C>T (p.Arg2608Trp) SNV Likely pathogenic 803285 rs1597389370 GRCh37: 16:89335056-89335056
GRCh38: 16:89268648-89268648
13 TRAPPC2L , ANKRD11 NM_013275.6(ANKRD11):c.7180C>T (p.Gln2394Ter) SNV Likely pathogenic 217881 rs863225296 GRCh37: 16:89345770-89345770
GRCh38: 16:89279362-89279362
14 AHCY NM_000687.4(AHCY):c.266C>T (p.Ala89Val) SNV Likely pathogenic 522065 rs755222515 GRCh37: 20:32881916-32881916
GRCh38: 20:34294110-34294110
15 AHCY NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys) SNV Likely pathogenic 12953 rs121918608 GRCh37: 20:32880181-32880181
GRCh38: 20:34292375-34292375
16 RYR1 NM_000540.2(RYR1):c.179A>G (p.Asp60Gly) SNV Likely pathogenic 548651 rs1555762532 GRCh37: 19:38933002-38933002
GRCh38: 19:38442362-38442362
17 CACNA1S NM_000069.3(CACNA1S):c.1678G>T (p.Ala560Ser) SNV Likely pathogenic 548652 rs763794604 GRCh37: 1:201046197-201046197
GRCh38: 1:201077069-201077069
18 ACADVL NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) SNV Likely pathogenic 203585 rs751995154 GRCh37: 17:7127330-7127330
GRCh38: 17:7224011-7224011
19 MYH3 NM_002470.4(MYH3):c.875C>G (p.Ser292Cys) SNV Likely pathogenic 211557 rs139480342 GRCh37: 17:10550522-10550522
GRCh38: 17:10647205-10647205
20 CPT2 NM_000098.3(CPT2):c.1766C>T (p.Thr589Met) SNV Uncertain significance 804352 rs756414686 GRCh37: 1:53679056-53679056
GRCh38: 1:53213384-53213384
21 HERC2 NM_004667.5(HERC2):c.5045A>G (p.Asn1682Ser) SNV Uncertain significance 599009 rs140073033 GRCh37: 15:28474681-28474681
GRCh38: 15:28229535-28229535
22 RYR1 NM_000540.2(RYR1):c.1312G>C (p.Glu438Gln) SNV Uncertain significance 599010 rs765668209 GRCh37: 19:38943526-38943526
GRCh38: 19:38452886-38452886
23 TRAPPC2L NM_016209.5(TRAPPC2L):c.350A>G (p.Asn117Ser) SNV Uncertain significance 1030538 GRCh37: 16:88926356-88926356
GRCh38: 16:88859948-88859948
24 TRAPPC2L , ANKRD11 NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn) SNV Likely benign 585399 rs144947610 GRCh37: 16:89371704-89371704
GRCh38: 16:89305296-89305296
25 TRAPPC2L , ANKRD11 NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro) SNV Likely benign 588478 rs143743958 GRCh37: 16:89347318-89347318
GRCh38: 16:89280910-89280910

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

72
# 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
10.88 CPT2 ACADVL
2 10.65 RYR1 CACNA1S
3 9.7 RYR1 CACNA1S

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 I band GO:0031674 8.62 RYR1 CACNA1S

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 fatty acid beta-oxidation GO:0006635 9.16 CPT2 ACADVL
2 face morphogenesis GO:0060325 8.96 MYH3 ANKRD11
3 cellular response to caffeine GO:0071313 8.62 RYR1 CACNA1S

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 voltage-gated calcium channel activity GO:0005245 9.16 RYR1 CACNA1S
2 calmodulin binding GO:0005516 9.13 RYR1 MYH3 CACNA1S
3 protein C-terminus binding GO:0008022 8.8 PFKM DLG4 DBNL

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

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