MMERV
MCID: ENC065
MIFTS: 32

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

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Encephalitis/encephalopathy, Mild, with Reversible Myelin...

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

Name: Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization 56 73 29 6 39
Mmerv 56 73
Encephalitis/encephalopathy, Mild, with Reversible Splenial Lesion; Mers 56
Encephalitis/encephalopathy, Mild, with Reversible Splenial Lesion 56
Mers 56

Characteristics:

OMIM:

56
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:



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

OMIM : 56 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)

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

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.

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

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 188)
# Related Disease Score Top Affiliating Genes
1 coronavirus infection 11.7
2 severe acute respiratory syndrome 10.8
3 encephalitis 10.5
4 encephalopathy 10.5
5 leukemia, acute lymphoblastic 10.4
6 influenza 10.4
7 lymphocytic leukemia 10.3
8 respiratory failure 10.3
9 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
10 pneumonia 10.3
11 autoimmune disease 10.2
12 glioblastoma multiforme 10.2
13 systemic lupus erythematosus 10.1
14 retinitis pigmentosa 10.1
15 neuroretinitis 10.1
16 diarrhea 10.1
17 vaccinia 10.1
18 retinitis 10.1
19 myeloid leukemia 10.1
20 lung cancer 10.1
21 leukemia, acute myeloid 10.1
22 thrombosis 10.1
23 allergic hypersensitivity disease 10.1
24 avian influenza 10.1
25 lymphopenia 10.1
26 colorectal cancer 10.0
27 proteasome-associated autoinflammatory syndrome 1 10.0
28 ocular motor apraxia 10.0
29 ebola hemorrhagic fever 10.0
30 lung disease 10.0
31 subacute delirium 10.0
32 lupus erythematosus 10.0
33 stomatitis 10.0
34 glioma 10.0
35 glial tumor 10.0
36 prostate cancer 9.9
37 retinoblastoma 9.9
38 small cell cancer of the lung 9.9
39 triiodothyronine receptor auxiliary protein 9.9
40 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
41 human immunodeficiency virus type 1 9.9
42 kawasaki disease 9.9
43 dengue virus 9.9
44 leukemia, acute lymphoblastic 3 9.9
45 helix syndrome 9.9
46 mumps 9.9
47 common cold 9.9
48 rabies 9.9
49 brain cancer 9.9
50 coccidioidomycosis 9.9

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

Symptoms & Phenotypes for Encephalitis/encephalopathy, Mild, with Reversible Myelin...

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

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

Symptoms via clinical synopsis from OMIM:

56
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

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

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
2 Neurotransmitter Agents Phase 4
3 Adrenergic Agonists Phase 4
4 Adrenergic alpha-2 Receptor Agonists Phase 4
5 Hypnotics and Sedatives Phase 4
6 Analgesics, Non-Narcotic Phase 4
7 Central Nervous System Depressants Phase 4
8 Adrenergic Agents Phase 4
9 Analgesics Phase 4
10
tannic acid Approved Phase 2, Phase 3 1401-55-4
11
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
12
Ritonavir Approved, Investigational Phase 2, Phase 3 155213-67-5 392622
13
Lopinavir Approved Phase 2, Phase 3 192725-17-0 92727
14
Interferon beta-1b Approved Phase 2, Phase 3 145155-23-3
15
protease inhibitors Phase 2, Phase 3
16 HIV Protease Inhibitors Phase 2, Phase 3
17 Anti-Infective Agents Phase 2, Phase 3
18 Cytochrome P-450 CYP3A Inhibitors Phase 2, Phase 3
19 Cytochrome P-450 Enzyme Inhibitors Phase 2, Phase 3
20 Antiviral Agents Phase 2, Phase 3
21 Anti-Retroviral Agents Phase 2, Phase 3
22 Adjuvants, Immunologic Phase 2, Phase 3
23 Anti-HIV Agents Phase 2, Phase 3
24 Interferon-beta Phase 2, Phase 3
25
Decitabine Approved, Investigational Phase 1, Phase 2 2353-33-5 451668
26 Pharmaceutical Solutions Phase 1, Phase 2
27 Hypolipidemic Agents Phase 2
28 Anti-Inflammatory Agents Phase 2
29 Anticholesteremic Agents Phase 2
30 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
31 Lipid Regulating Agents Phase 2
32 Vaccines Phase 1, Phase 2
33 Immunologic Factors Phase 1, Phase 2
34 interferons Phase 1, Phase 2
35 Antimetabolites Phase 1, Phase 2
36 Poly ICLC Phase 1, Phase 2
37 Interferon Inducers Phase 1, Phase 2
38
Sorbitol Approved Phase 1 50-70-4 5780
39
Glutamic acid Approved, Nutraceutical Phase 1 56-86-0 33032
40 Antibodies, Monoclonal Phase 1
41 Somatomedin B Phase 1
42 Rho(D) Immune Globulin Phase 1
43 Immunoglobulins, Intravenous Phase 1
44 gamma-Globulins Phase 1
45 Myeloma Proteins Phase 1
46 Paraproteins Phase 1
47 Immunoglobulins
48 Antibodies

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Effects of Different Concentrations of Dexmedetomidine on Basal Ganglia Neuronal Activity (Local Field Potentials) in Parkinson's Disease Recruiting NCT02982512 Phase 4 Dexmedetomidine
2 MERS-CoV Infection tReated With A Combination of Lopinavir /Ritonavir and Interferon Beta-1b: a Multicenter, Placebo-controlled, Double-blind Randomized Trial Recruiting NCT02845843 Phase 2, Phase 3 Combination of Lopinavir /Ritonavir and Interferon beta-1b;Placebo
3 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
4 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
5 Using Systems Vaccinology to Elucidate the Effects of Anti-inflammatory Therapy on Immune Response After Vaccination With a Live Attenuated Vaccine Recruiting NCT03116802 Phase 2 Stamaril (live attenuated yellow fever vaccine)
6 Phase I/IIa, Open-label, Dose Ranging Study to Evaluate the Safety, Tolerability and Immunogenicity of GLS-5300, Administered ID Followed by CELLECTRA® 2000 (Electroporation, EP) Active, not recruiting NCT03721718 Phase 1, Phase 2
7 A Phase I/Pilot II Trial Combining Decitabine and Vaccine Therapy for Patients With Relapsed or Refractory Pediatric High Grade Gliomas, Medulloblastomas, and Central Nervous System Primitive Neuroectodermal Tumors (CNS PNETs) Terminated NCT02332889 Phase 1, Phase 2 Decitabine and Hiltonol
8 Anti-MERS-COV Convalescent Plasma Therapy Withdrawn NCT02190799 Phase 2
9 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
10 Phase I, Open-label, Dose Ranging Study to Evaluate the Safety, Tolerability, and Immunogenicity of GLS-5300, Administered IM Followed by Electroporation in Healthy Volunteers Completed NCT02670187 Phase 1
11 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
12 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
13 Extracorporeal Membrane Oxygenation Support for Middle East Respiratory Syndrome Induced Respiratory Failure Completed NCT02627378 Phase 1
14 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
15 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 Recruiting NCT04170829 Phase 1
16 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
17 Seroprevalence of IgG Antibodies to Middle East Respiratory Syndrome Coronavirus in Asymptomatic Healthcare Workers After Treatment of Confirmed MERS Patient Completed NCT02497885
18 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
19 The First in the World Human Proof-of-concept Study on Disinfection and Healing Acceleration Capabilities of 222nm Wave Length Narrow Band Ultraviolet Lighting Device Completed NCT03526068
20 An International Observational Study to Characterize Adults With Influenza or Other Targeted Respiratory Viruses Completed NCT01056354
21 An International Observational Study to Characterize Adults Who Are Hospitalized With Influenza or Other Targeted Respiratory Viruses Recruiting NCT01056185
22 Collection of Plasma From Subjects That Recovered From or Were Vaccinated To Emerging Infectious Diseases Enrolling by invitation NCT02338986

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

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

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

# Genetic test Affiliating Genes
1 Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization 29

Anatomical Context for Encephalitis/encephalopathy, Mild, with Reversible Myelin...

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

40
Brain, Eye, T Cells, Lung, Skin, Myeloid, Kidney

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

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

# Title Authors PMID Year
1
MYRF is associated with encephalopathy with reversible myelin vacuolization. 56 6
29265453 2018
2
Sisters with clinically mild encephalopathy with a reversible splenial lesion (MERS)-like features; Familial MERS? 56 6
20042198 2010
3
Myelin gene regulatory factor is required for maintenance of myelin and mature oligodendrocyte identity in the adult CNS. 56
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

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

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

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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