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MMERV
MCID: ENC065
MIFTS: 31

Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization (MMERV)

Categories: Genetic diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Encephalitis/encephalopathy, Mild, with Reversible Myelin...

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MalaCards integrated aliases for Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization:

Name: Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization 57 73 29 6 39
Mmerv 57 73
Encephalitis/encephalopathy, Mild, with Reversible Splenial Lesion; Mers 57
Encephalitis/encephalopathy, Mild, with Reversible Splenial Lesion 57
Mers 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood
episodes may be triggered by fever, infection, stress
affected individuals have complete neurologic recovery within days to weeks
brain imaging abnormalities are transient and return to normal
no permanent neurologic sequelae
two unrelated japanese families have been reported (last curated september 2018)


HPO:

31
encephalitis/encephalopathy, mild, with reversible myelin vacuolization:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


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Summaries for Encephalitis/encephalopathy, Mild, with Reversible Myelin...

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OMIM® : 57 MMERV is an episodic acute reversible encephalopathy that occurs in children and is frequently associated with a trigger, such as a febrile illness. Affected individuals have impaired consciousness, delirious behavior, and/or seizures with lip smacking or eye deviation. These changes are associated with white matter lesions in the brain that often occur in the splenium of the corpus callosum, but may occur in surrounding areas. The acute phase of the disorder can be treated with steroids, and most patients make a full neurologic recovery between episodes with no sequelae (summary by Kurahashi et al., 2018). (618113) (Updated 05-Mar-2021)

MalaCards based summary : Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization, also known as mmerv, is related to middle east respiratory syndrome and severe acute respiratory syndrome. An important gene associated with Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization is MYRF (Myelin Regulatory Factor). The drugs Remifentanil and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and prostate, and related phenotypes are delayed speech and language development and seizure

UniProtKB/Swiss-Prot : 73 Encephalitis/encephalopathy, mild, with reversible myelin vacuolization: An autosomal dominant disease characterized by episodes of acute encephalitis associated with impaired consciousness, delirious behavior, seizures, and reversible splenial lesions observed on diffusion magnetic resonance imaging. Most patients completely recover and there are no neurologic sequelae. MMERV occurs in children and is frequently associated with a trigger, such as a febrile illness.

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Related Diseases for Encephalitis/encephalopathy, Mild, with Reversible Myelin...

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Diseases related to Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 116)
# Related Disease Score Top Affiliating Genes
1 middle east respiratory syndrome 11.7
2 severe acute respiratory syndrome 11.0
3 disease by infectious agent 10.6
4 covid-19 10.6
5 encephalopathy 10.5
6 influenza 10.5
7 encephalitis 10.5
8 adult respiratory distress syndrome 10.5
9 pneumonia 10.4
10 respiratory failure 10.3
11 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
12 lymphopenia 10.2
13 common cold 10.1
14 viral pneumonia 10.1
15 diarrhea 10.1
16 thrombocytopenia 10.1
17 avian influenza 10.1
18 lung disease 10.1
19 vaccinia 10.1
20 stomatitis 10.1
21 cytokine deficiency 10.1
22 triiodothyronine receptor auxiliary protein 10.0
23 pre-eclampsia 10.0
24 acute kidney failure 10.0
25 ebola hemorrhagic fever 10.0
26 ocular motor apraxia 9.9
27 kearns-sayre syndrome 9.9
28 kawasaki disease 9.9
29 helix syndrome 9.9
30 mumps 9.9
31 rabies 9.9
32 allergic disease 9.9
33 generalized anxiety disorder 9.9
34 disease of mental health 9.9
35 pneumothorax 9.9
36 poliomyelitis 9.9
37 bronchitis 9.9
38 cerebrovascular disease 9.9
39 chronic kidney disease 9.9
40 measles 9.9
41 subacute delirium 9.9
42 autoimmune disease 9.7
43 multiple sclerosis 9.7
44 ige responsiveness, atopic 9.7
45 myositis 9.7
46 polykaryocytosis inducer 9.7
47 thrombophilia due to thrombin defect 9.7
48 varicose veins 9.7
49 hemolytic uremic syndrome, atypical 1 9.7
50 immune deficiency disease 9.7

Graphical network of the top 20 diseases related to Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization:



Diseases related to Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization
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Symptoms & Phenotypes for Encephalitis/encephalopathy, Mild, with Reversible Myelin...

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Human phenotypes related to Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization:

31
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 HP:0000750
2 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
encephalopathy, acute, episodic
impaired consciousness, episodic
speech difficulties, episodic
white matter abnormalities in the corpus callosum and surrounding areas
more

Clinical features from OMIM®:

618113 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Encephalitis/encephalopathy, Mild, with Reversible Myelin...

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Drugs for Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Remifentanil Approved Phase 4 132875-61-7 60815
2
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4 Adrenergic alpha-Agonists Phase 4
5 Anesthetics Phase 4
6 Analgesics, Non-Narcotic Phase 4
7 Hypnotics and Sedatives Phase 4
8 Narcotics Phase 4
9 Adrenergic Agents Phase 4
10 Anesthetics, Intravenous Phase 4
11 Analgesics Phase 4
12 Analgesics, Opioid Phase 4
13 Anesthetics, General Phase 4
14 Adrenergic Agonists Phase 4
15
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
16
tannic acid Approved Phase 2, Phase 3 1401-55-4
17
Interferon beta-1b Approved Phase 2, Phase 3 145155-23-3
18
Ritonavir Approved, Investigational Phase 2, Phase 3 155213-67-5 392622
19
Lopinavir Approved Phase 2, Phase 3 192725-17-0 92727
20
Meropenem Approved, Investigational Phase 3 96036-03-2, 119478-56-7 64778 441130
21
Avibactam Approved Phase 3 1192500-31-4
22
Aztreonam Approved Phase 3 78110-38-0 5362041 5742832
23
Colistin Approved Phase 3 1066-17-7, 1264-72-8 5311054
24
Metronidazole Approved Phase 3 443-48-1 4173
25
Lenalidomide Approved Phase 3 191732-72-6 216326
26
Nafamostat Investigational Phase 2, Phase 3 81525-10-2
27 Cytochrome P-450 Enzyme Inhibitors Phase 2, Phase 3
28 Anti-HIV Agents Phase 2, Phase 3
29 Anti-Infective Agents Phase 2, Phase 3
30 Interferon-beta Phase 2, Phase 3
31 interferons Phase 2, Phase 3
32 Adjuvants, Immunologic Phase 2, Phase 3
33 Anti-Retroviral Agents Phase 2, Phase 3
34 Cytochrome P-450 CYP3A Inhibitors Phase 2, Phase 3
35 Antiviral Agents Phase 2, Phase 3
36 Immunosuppressive Agents Phase 2, Phase 3
37 Anti-Inflammatory Agents Phase 2, Phase 3
38 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
39 Complement System Proteins Phase 2, Phase 3
40 Anti-Infective Agents, Local Phase 2, Phase 3
41 Antirheumatic Agents Phase 2, Phase 3
42 Trypsin Inhibitors Phase 2, Phase 3
43 Immunologic Factors Phase 3
44 Angiogenesis Inhibitors Phase 3
45 Hematinics Phase 3
46 Epoetin alfa Phase 3 113427-24-0
47
Zoledronic Acid Approved Phase 2 118072-93-8 68740
48
Sodium citrate Approved, Investigational Phase 2 68-04-2
49
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
50 Acyline Investigational Phase 1, Phase 2 170157-13-8

Interventional clinical trials:

(show all 31)
# Name Status NCT ID Phase Drugs
1 Effects of Anesthesia Drugs on Neuronal Activity in the Basal Ganglia and Thalamus During Deep Brain Stimulation Electrode Implantation Surgery Recruiting NCT03283150 Phase 4 Remifentanil;Propofol;Dexmedetomidine
2 Prospective, Multi-centre, Randomized, Parallel Comparison to Evaluate the Safety and Efficacy of the Abluminal Sirolimus Coated Bio-engineered Stent (COMBO Stent) in Association With Short-term Single Antiplatelet Therapy in Patients With Coronary Artery Disease With an Indication for Chronic Oral Anticoagulant Therapy as Compared to a Guidelines-based Strategy Withdrawn NCT02723981 Phase 4 Clopidogrel, Vitamin K Antagonist, Rivaroxaban, Dabigatran;ASA, Clopidogrel, Vitamin K Antagonist, Rivaroxaban, Dabigatran
3 MERS-CoV Infection tReated With A Combination of Lopinavir /Ritonavir and Interferon Beta-1b: a Multicenter, Placebo-controlled, Double-blind Randomized Trial Completed NCT02845843 Phase 2, Phase 3 Combination of Lopinavir /Ritonavir and Interferon beta-1b;Placebo
4 A PHASE 3 PROSPECTIVE, RANDOMIZED, MULTICENTER, OPEN-LABEL, CENTRAL ASSESSOR-BLINDED, PARALLEL GROUP, COMPARATIVE STUDY TO DETERMINE THE EFFICACY, SAFETY AND TOLERABILITY OF AZTREONAM-AVIBACTAM (ATM-AVI) ±METRONIDAZOLE (MTZ) VERSUS MEROPENEM±COLISTIN (MER±COL) FOR THE TREATMENT OF SERIOUS INFECTIONS DUE TO GRAM NEGATIVE BACTERIA, INCLUDING METALLO-Β-LACTAMASE (MBL) - PRODUCING MULTIDRUG RESISTANT PATHOGENS, FOR WHICH THERE ARE LIMITED OR NO TREATMENT OPTIONS Recruiting NCT03329092 Phase 3 ATM-AVI;MTZ;MER;COL
5 Rapid Experimental Medicine for COVID-19 - DEFINE COVID-19 Recruiting NCT04473053 Phase 2, Phase 3 Nafamostat Mesilate;TD139
6 Randomized Phase III Trial Comparing the Frequency of Major Erythroid Response (MER) to Treatment With Lenalidomide (Revlimid) Alone and in Combination With Epoetin Alfa (Procrit) in Subjects With Low- or Intermediate-1 Risk MDS and Symptomatic Anemia Active, not recruiting NCT00843882 Phase 3 Lenalidomide
7 Phase II Study to Assess the Safety, Imaging, Pharmacodynamic and Clinical Outcomes of Acute Ischemic Stroke Subjects Treated With tPA and THR-18 Unknown status NCT02572336 Phase 2 THR-18;Placebo;Tissue Plasminogen Activator (tPA)
8 Double-blind, Placebo-controlled, Escalating Single-dose, Phase 2a Study to Assess the Safety, Pharmacokinetics, and Pharmacodynamics of THR-18 in Subjects With Acute Ischemic Stroke and Treated With tPA Completed NCT01957774 Phase 2 THR-18;Placebo
9 Oral Administration of the GnRH Antagonist Acyline in Normal Men Part II: Multiple-dose Pharmacokinetics (Acyline-7/MER 104-02) Completed NCT00603187 Phase 1, Phase 2 Acyline
10 A Multi-Center Phase II Study to Compare MER-101 (20mg) Tablets To Intravenous Zometa 4mg in Male Bisphosphonate-Naive Hormone Refractory Prostate Cancer Patients Completed NCT00636740 Phase 2 Zoledronic Acid 20mg Tablets;Zoledronic Acid;Zoledronic Acid 20mg Tablets
11 Double-blind, Placebo-controlled Study With an Open Dose Selection Period for Assessing the Safety and Immunogenicity of the Drug "BVRS-GamVac", a Vector Vaccine for the Prevention of the Middle East Respiratory Syndrome, Lyophilisate for the Preparation of a Solution for Intramuscular Administration, With the Participation of Healthy Volunteers Recruiting NCT04130594 Phase 1, Phase 2
12 Double-blind, Placebo-controlled Study With an Open Dose Selection Period for Assessing the Safety and Immunogenicity of the Drug "BVRS-GamVac-Combi", a Combined Vector Vaccine for the Prevention of the Middle East Respiratory Syndrome, Lyophilisate for the Preparation of a Solution for Intramuscular Administration, With the Participation of Healthy Volunteers Recruiting NCT04128059 Phase 1, Phase 2 BVRS-GamVac-Combi
13 Study to Evaluate the Safety, Tolerability and Immunogenicity of INO-4700 for Middle East Respiratory Syndrome Coronavirus (MERS-CoV) in Healthy Volunteers Not yet recruiting NCT04588428 Phase 2 INO-4700;Placebo
14 Anti-MERS-COV Convalescent Plasma Therapy Withdrawn NCT02190799 Phase 2
15 A Phase I Trial to Evaluate the Safety, Tolerability, Pharmacokinetics and Immunogenicity of Co-administered MERS-CoV Antibodies REGN3048 and REGN3051 vs. Placebo in Healthy Adults Completed NCT03301090 Phase 1
16 A Phase Ib Study to Determine the Safety and Immunogenicity of the Candidate Middle East Respiratory Syndrome Coronavirus (MERS-CoV) Vaccine ChAdOx1 MERS in Healthy Adult Middle Eastern Volunteers Completed NCT04170829 Phase 1
17 Extracorporeal Membrane Oxygenation Support for Middle East Respiratory Syndrome Induced Respiratory Failure Completed NCT02627378 Phase 1
18 An Open, Single Center Phase I Trial to Assess the Safety, Tolerability and Immunogenicity of Two Ascending Doses of the Candidate Vaccine MVA-MERS-S Completed NCT03615911 Phase 1
19 A Phase 1, Randomized Double-Blind, Placebo-Controlled, Single Ascending Dose Safety, Tolerability, and Pharmacokinetics Study of SAB-301 in Healthy Adults Completed NCT02788188 Phase 1
20 A Phase I Study to Determine the Safety and Immunogenicity of the Candidate Middle East Respiratory Syndrome Coronavirus (MERS-CoV) Vaccine ChAdOx1 MERS in UK Healthy Adult Volunteers Recruiting NCT03399578 Phase 1
21 A Phase 1a/1b Study of OPT101 in Healthy Volunteers Recruiting NCT04589403 Phase 1 OPT101
22 A Two-center, Randomized, Double-blind, Placebo-controlled, Phase Ib Study to Assess the Safety, Tolerability and Immunogenicity of Two Ascending Doses of the Candidate Vaccine MVA-MERS-S_DF-1 in Healthy Study Subjects Not yet recruiting NCT04119440 Phase 1
23 Seroprevalence of IgG Antibodies to Middle East Respiratory Syndrome Coronavirus in Asymptomatic Healthcare Workers After Treatment of Confirmed MERS Patient Completed NCT02497885
24 The Merendino Procedure for Benign or Early Malignant Lesions of the Distal Esophagus/Gastroesophageal Junction is Feasible, Safe and Provides Good QoL Completed NCT02855333
25 Evaluation of Mer and Axl Expression in Acute Myeloid Leukemia Patient Samples Completed NCT01139333
26 Phase 0 Monitoring of Gluten-free Diet Compliance in Celiac Patients by Assessment of Gliadin 33-mer Equivalent Epitopes in Feces Completed NCT01478867
27 Analysis of Human to Human Transmission of Middle East Respiratory Syndrom Coronavirus (MER-CoV) and Infection Control Experiences in a Medical Institution of South Korea Completed NCT02605109
28 Incidence of Iatrogenic Diseases on Toulon-La Seyne Sur Mer Hospital Emergency Consultations During Summer 2018 Completed NCT03960398 Iatrogenic disease impact on emergency consultations
29 Badanie Kliniczne oceniające bezpieczeństwo i skuteczność Stosowania stentów Szyjnych MER® w Rewaskularyzacji tętnic Szyjnych. Completed NCT03133429
30 Detecting Soluble MER Levels After Myocardial Ischemia and Reperfusion Injury in Pediatric Patients Active, not recruiting NCT04322630
31 A Study of RXDX-106, an Oral Immunomodulatory TYRO3, AXL, and MER (TAM) Tyrosine Kinase Inhibitor, in Patients With Locally Advanced or Metastatic Solid Tumors Terminated NCT03454243 Early Phase 1 RXDX-106

Search NIH Clinical Center for Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization

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Genetic Tests for Encephalitis/encephalopathy, Mild, with Reversible Myelin...

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Genetic tests related to Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization:

# Genetic test Affiliating Genes
1 Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization 29 MYRF
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Anatomical Context for Encephalitis/encephalopathy, Mild, with Reversible Myelin...

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MalaCards organs/tissues related to Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization:

40
Eye, Brain, Prostate, Myeloid, Thalamus
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Publications for Encephalitis/encephalopathy, Mild, with Reversible Myelin...

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Articles related to Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization:

# Title Authors PMID Year
1
MYRF is associated with encephalopathy with reversible myelin vacuolization. 57 6
29265453 2018
2
Sisters with clinically mild encephalopathy with a reversible splenial lesion (MERS)-like features; Familial MERS? 57 6
20042198 2010
3
Myelin gene regulatory factor is required for maintenance of myelin and mature oligodendrocyte identity in the adult CNS. 57
22956843 2012
4
Distinctive patterns of epigenetic marks are associated with promoter regions of mouse LINE-1 and LTR retrotransposons. 61
24289137 2013
5
A novel active endogenous retrovirus family contributes to genome variability in rat inbred strains. 61
19887576 2010
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Variations for Encephalitis/encephalopathy, Mild, with Reversible Myelin...

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ClinVar genetic disease variations for Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYRF NM_001127392.3(MYRF):c.1208A>G (p.Gln403Arg) SNV Pathogenic 560883 rs1565295286 11:61541531-61541531 11:61774059-61774059

UniProtKB/Swiss-Prot genetic disease variations for Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization:

73
# Symbol AA change Variation ID SNP ID
1 MYRF p.Gln403Arg VAR_081183 rs156529528

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Expression for Encephalitis/encephalopathy, Mild, with Reversible Myelin...

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Search GEO for disease gene expression data for Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization.
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Pathways for Encephalitis/encephalopathy, Mild, with Reversible Myelin...

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GO Terms for Encephalitis/encephalopathy, Mild, with Reversible Myelin...

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Sources for Encephalitis/encephalopathy, Mild, with Reversible Myelin...

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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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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