MMERV
MCID: ENC065
MIFTS: 29

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 57 74 6 40
Mmerv 57 74
Encephalitis/encephalopathy, Mild, with Reversible Splenial Lesion; Mers 57
Encephalitis/encephalopathy, Mild, with Reversible Splenial Lesion 57
Mers 57

Characteristics:

OMIM:

57
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:

32
encephalitis/encephalopathy, mild, with reversible myelin vacuolization:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 618113
MeSH 44 D004660

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

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)

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

UniProtKB/Swiss-Prot : 74 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 184)
# Related Disease Score Top Affiliating Genes
1 severe acute respiratory syndrome 10.8
2 encephalitis 10.5
3 encephalopathy 10.5
4 acute respiratory distress syndrome 10.4
5 leukemia, acute lymphoblastic 10.4
6 lymphocytic leukemia 10.3
7 respiratory failure 10.3
8 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
9 pneumonia 10.3
10 influenza 10.2
11 autoimmune disease 10.2
12 glioblastoma multiforme 10.2
13 glioblastoma 10.2
14 systemic lupus erythematosus 10.1
15 retinitis pigmentosa 10.1
16 neuroretinitis 10.1
17 diarrhea 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 thrombocytopenia 10.1
25 vaccinia 10.1
26 avian influenza 10.1
27 lymphopenia 10.1
28 colorectal cancer 10.0
29 proteasome-associated autoinflammatory syndrome 1 10.0
30 ocular motor apraxia 10.0
31 ebola hemorrhagic fever 10.0
32 subacute delirium 10.0
33 lupus erythematosus 10.0
34 stomatitis 10.0
35 glioma 10.0
36 glial tumor 10.0
37 prostate cancer 9.9
38 retinoblastoma 9.9
39 small cell cancer of the lung 9.9
40 triiodothyronine receptor auxiliary protein 9.9
41 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
42 human immunodeficiency virus type 1 9.9
43 kawasaki disease 9.9
44 dengue virus 9.9
45 leukemia, acute lymphoblastic 3 9.9
46 helix syndrome 9.9
47 mumps 9.9
48 common cold 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:

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 delayed speech and language development 32 HP:0000750

Symptoms via clinical synopsis from OMIM:

57
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 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
2 Analgesics Phase 4
3 Neurotransmitter Agents Phase 4
4 Adrenergic alpha-2 Receptor Agonists Phase 4
5 Analgesics, Non-Narcotic Phase 4
6 Adrenergic Agonists Phase 4
7 Adrenergic alpha-Agonists Phase 4
8 Peripheral Nervous System Agents Phase 4
9 Central Nervous System Depressants Phase 4
10 Adrenergic Agents Phase 4
11 Hypnotics and Sedatives Phase 4
12
tannic acid Approved Phase 2, Phase 3 1401-55-4
13
Lopinavir Approved Phase 2, Phase 3 192725-17-0 92727
14
Ritonavir Approved, Investigational Phase 2, Phase 3 155213-67-5 392622
15
Interferon beta-1b Approved Phase 2, Phase 3 145155-23-3
16
Benzocaine Approved, Investigational Phase 2, Phase 3 94-09-7, 1994-09-7 2337
17 HIV Protease Inhibitors 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
protease inhibitors Phase 2, Phase 3
21 Interferon-beta Phase 2, Phase 3
22 Anti-Infective Agents Phase 2, Phase 3
23 Adjuvants, Immunologic Phase 2, Phase 3
24 Anti-HIV Agents Phase 2, Phase 3
25 Anti-Retroviral Agents Phase 2, Phase 3
26 Antiviral Agents Phase 2, Phase 3
27
Decitabine Approved, Investigational Phase 1, Phase 2 2353-33-5 451668
28 Lipid Regulating Agents Phase 2
29 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
30 Anti-Inflammatory Agents Phase 2
31 Hypolipidemic Agents Phase 2
32 Anticholesteremic Agents Phase 2
33 Immunologic Factors Phase 1, Phase 2
34 Vaccines Phase 1, Phase 2
35 interferons Phase 1, Phase 2
36 Antimetabolites Phase 1, Phase 2
37 Poly ICLC Phase 1, Phase 2
38 Antimetabolites, Antineoplastic Phase 1, Phase 2
39 Interferon Inducers Phase 1, Phase 2
40
Sorbitol Approved Phase 1 50-70-4 5780
41
Glutamic acid Approved, Nutraceutical Phase 1 56-86-0 33032
42 Somatomedin B Phase 1
43 Antibodies, Monoclonal Phase 1
44 gamma-Globulins Phase 1
45 Immunoglobulins, Intravenous Phase 1
46 Rho(D) Immune Globulin Phase 1
47 Paraproteins Phase 1
48 Myeloma Proteins Phase 1
49 Antibodies
50 Immunoglobulins

Interventional clinical trials:

(show all 18)
# 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 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)
4 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
5 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
6 Anti-MERS-COV Convalescent Plasma Therapy Withdrawn NCT02190799 Phase 2
7 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
8 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
9 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
10 Extracorporeal Membrane Oxygenation Support for Middle East Respiratory Syndrome Induced Respiratory Failure Completed NCT02627378 Phase 1
11 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
12 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 Active, not recruiting NCT03615911 Phase 1
13 Seroprevalence of IgG Antibodies to Middle East Respiratory Syndrome Coronavirus in Asymptomatic Healthcare Workers After Treatment of Confirmed MERS Patient Completed NCT02497885
14 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
15 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
16 An International Observational Study to Characterize Adults With Influenza or Other Targeted Respiratory Viruses Completed NCT01056354
17 An International Observational Study to Characterize Adults Who Are Hospitalized With Influenza or Other Targeted Respiratory Viruses Recruiting NCT01056185
18 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...

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

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

41
Brain, Eye

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. 8 71
29265453 2018
2
Sisters with clinically mild encephalopathy with a reversible splenial lesion (MERS)-like features; Familial MERS? 8 71
20042198 2010
3
Myelin gene regulatory factor is required for maintenance of myelin and mature oligodendrocyte identity in the adult CNS. 8
22956843 2012
4
Distinctive patterns of epigenetic marks are associated with promoter regions of mouse LINE-1 and LTR retrotransposons. 38
24289137 2013
5
A novel active endogenous retrovirus family contributes to genome variability in rat inbred strains. 38
19887576 2010

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

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MYRF NM_001127392.3(MYRF): c.1208A> G (p.Gln403Arg) single nucleotide variant Pathogenic 11:61541531-61541531 11:61774059-61774059

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

74
# 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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