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MMERV
MCID: ENC065
MIFTS: 33

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 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:

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 : 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 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 Dexmedetomidine and Heparin have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes, 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 203)
# Related Disease Score Top Affiliating Genes
1 middle east respiratory syndrome 12.4
2 severe acute respiratory syndrome 10.9
3 covid-19 10.6
4 encephalopathy 10.5
5 encephalitis 10.5
6 coronavirus infectious disease 10.5
7 influenza 10.4
8 leukemia, acute lymphoblastic 10.4
9 respiratory failure 10.4
10 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
11 pneumonia 10.3
12 autoimmune disease 10.2
13 systemic lupus erythematosus 10.2
14 glioblastoma multiforme 10.2
15 avian influenza 10.2
16 lymphopenia 10.2
17 retinitis pigmentosa 10.1
18 neuroretinitis 10.1
19 diarrhea 10.1
20 vaccinia 10.1
21 retinitis 10.1
22 myeloid leukemia 10.1
23 lung cancer 10.1
24 leukemia, acute myeloid 10.1
25 thrombosis 10.1
26 common cold 10.1
27 thrombocytopenia 10.1
28 colorectal cancer 10.0
29 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
30 proteasome-associated autoinflammatory syndrome 1 10.0
31 ocular motor apraxia 10.0
32 viral pneumonia 10.0
33 allergic hypersensitivity disease 10.0
34 ebola hemorrhagic fever 10.0
35 liver cirrhosis 10.0
36 t-cell lymphoblastic leukemia/lymphoma 10.0
37 lung disease 10.0
38 subacute delirium 10.0
39 lupus erythematosus 10.0
40 stomatitis 10.0
41 glioma 10.0
42 glial tumor 10.0
43 retinoblastoma 9.9
44 rheumatoid arthritis 9.9
45 small cell cancer of the lung 9.9
46 triiodothyronine receptor auxiliary protein 9.9
47 human immunodeficiency virus type 1 9.9
48 kawasaki disease 9.9
49 dengue virus 9.9
50 leukemia, acute lymphoblastic 3 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
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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:

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
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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 177)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
2
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
3 Adrenergic alpha-Agonists Phase 4
4 Adrenergic Agents Phase 4
5 Analgesics, Non-Narcotic Phase 4
6 Hypnotics and Sedatives Phase 4
7 Adrenergic Agonists Phase 4
8 Neurotransmitter Agents Phase 4
9 Fibrinolytic Agents Phase 4
10 calcium heparin Phase 4
11 Anticoagulants Phase 4
12
tannic acid Approved Phase 2, Phase 3 1401-55-4
13
Benzocaine Approved, Investigational Phase 2, Phase 3 94-09-7, 1994-09-7 2337
14
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
15
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
16
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
17 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
18
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
19
Colchicine Approved Phase 3 64-86-8 2833 6167
20
Lopinavir Approved Phase 2, Phase 3 192725-17-0 92727
21
Ritonavir Approved, Investigational Phase 2, Phase 3 155213-67-5 392622
22
Hydroxychloroquine Approved Phase 2, Phase 3 118-42-3 3652
23
Nitazoxanide Approved, Investigational, Vet_approved Phase 3 55981-09-4 41684
24
Chlorpromazine Approved, Investigational, Vet_approved Phase 3 50-53-3 2726
25
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
26
Azithromycin Approved Phase 3 83905-01-5 447043 55185
27
Mannitol Approved, Investigational Phase 2, Phase 3 69-65-8 6251 453
28
chloroquine Approved, Investigational, Vet_approved Phase 2, Phase 3 54-05-7 2719
29
Clarithromycin Approved Phase 3 81103-11-9 84029
30
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
31
Hydroxocobalamin Approved Phase 3 13422-51-0 15589840 11953898
32
Isotretinoin Approved Phase 3 4759-48-2 5282379 5538
33
Oseltamivir Approved Phase 3 204255-11-8, 196618-13-0 65028
34
Zinc Approved, Investigational Phase 3 7440-66-6 32051
35
Ribavirin Approved Phase 3 36791-04-5 37542
36
Ivermectin Approved, Investigational, Vet_approved Phase 3 70288-86-7 6474909
37
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
38
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
39
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 444795 5538
40
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
41
Nafamostat Investigational Phase 2, Phase 3 81525-10-2
42
Cobalamin Experimental Phase 3 13408-78-1 6857388
43 Methylprednisolone Acetate Phase 2, Phase 3
44 glucocorticoids Phase 2, Phase 3
45 Neuroprotective Agents Phase 2, Phase 3
46 Immunoglobulins Phase 3
47 Antibodies Phase 3
48 Immunologic Factors Phase 3
49 Immunoglobulins, Intravenous Phase 3
50 Analgesics Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 123)
# 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 Unknown status NCT02982512 Phase 4 Dexmedetomidine
2 Prevention of Coronavirus Disease (COVID-19) Outbreaks by Prophylactic Treatment With Nitazoxanide Recruiting NCT04406246 Phase 4 Nitazoxanide 500Mg Oral Tablet
3 Treatment With Hydroxychloroquine vs Nitazoxanide + Hydroxychloroquine in Patients With COVID-19 With Risk Factors for Poor Outcome Recruiting NCT04341493 Phase 4 Nitazoxanide 500 MG;Hydroxychloroquine
4 Nebulized Heparin vs. Placebo for the Treatment of COVID-19 Induced Lung Injury Enrolling by invitation NCT04397510 Phase 4 Heparin;0.9% Sodium-chloride
5 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
6 Glucocorticoid Therapy for Critically Ill Patients With Severe Acute Respiratory Infections Caused by COVID-19: a Prospective, Randomized Controlled Trial Completed NCT04244591 Phase 2, Phase 3 methylprednisolone therapy
7 Convalescent Plasma Therapy From Recovered Covid-19 Patients as Therapy for Hospitalized Patients With Covid-19 Recruiting NCT04342182 Phase 2, Phase 3
8 Randomized Double-Blind Placebo-Controlled Trial on the Safety and Efficacy of Imatinib for Hospitalized Adults With COVID-19 Recruiting NCT04394416 Phase 3 Imatinib;Placebo oral tablet
9 The ECLA PHRI COLCOVID Trial Recruiting NCT04328480 Phase 3 Colchicine
10 Efficacy and Safety of Hyperimmune Plasma Treatment in Patients With COVID-19 Severe Infection Recruiting NCT04385043 Phase 2, Phase 3 standard therapy
11 Study on Safety and Efficacy of Favipiravir (Favipira) for COVID-19 Patient in Selected Hospitals of Bangladesh Recruiting NCT04402203 Phase 2, Phase 3 Favipiravir;Only Standard Treatment
12 Efficacy and Safety of Convalescent Plasma vs Human Immunoglobulin for the Treatment of COVID-19 Pneumonia: A Randomized Controlled Trial Recruiting NCT04381858 Phase 3 Plasma from COVID-19 convalescent patient;Human immunoglobulin
13 Repurposing of Chlorpromazine in Covid-19 Treatment Not yet recruiting NCT04366739 Phase 3 CHLORPROMAZINE (CPZ)
14 Effectiveness of Hydroxychloroquine in Covid-19 Patients: A Single Centred Single-blind RCT Study Not yet recruiting NCT04328272 Phase 3 Hydroxychloroquine 200 Mg Oral Tablet;Azithromycin 500Mg Oral Tablet
15 Effectiveness and Safety of Convalescent Plasma Therapy on COVID-19 Patients With Acute Respiratory Distress Syndrome in Referral Hospitals in Indonesia Not yet recruiting NCT04380935 Phase 2, Phase 3 Standard of care
16 Evaluation Of Efficacy Of COVID-19 Convalescent Plasma Versus Standard Plasma In The Early Care Of COVID-19 Patients Hospitalized Outside Intensive Care Units. Not yet recruiting NCT04372979 Phase 3 Transfusion of SARS-CoV-2 Convalescent Plasma.;Transfusion of standard Plasma.
17 Treatment Effect of Nafamostat Mesylate in Patients With COVID-19 Pneumonia: Open Labelled Randomized Controlled Clinical Trial Not yet recruiting NCT04418128 Phase 2, Phase 3 Nafamostat Mesylate
18 #StayHome: Efficacy of Early Hydroxychloroquine in Outpatients to Reduce Secondary Hospitalisation and Household Transmission of COVID-19 in Switzerland: A Double-blind, Randomised, Placebo-controlled Trial Not yet recruiting NCT04385264 Phase 2, Phase 3 Hydroxychloroquine;Mannitol
19 Chloroquine for Mild Symptomatic and Asymptomatic COVID-19 in A Two Staged, Multicenter, Open Label and Randomized Trial Not yet recruiting NCT04333628 Phase 2, Phase 3 chloroquine
20 Study of the P2Et Extract Obtained From Caesalpinia Spinosa in the Symptomatic Treatment of Subjects With COVID-19 at the Hospital Universitario San Ignacio, Colombia. Not yet recruiting NCT04410510 Phase 2, Phase 3 P2Et (Caesalpinia spinosa extract)
21 The Effect of Sitagliptin Treatment in COVID-19 Positive Diabetic Patients Not yet recruiting NCT04365517 Phase 3 Sitagliptin
22 Trial of Silymarin in Adults With COVID-19 Pneumonia Not yet recruiting NCT04394208 Phase 3 Silymarin;Placebo
23 Isotretinoin in Treatment of COVID-19 (Randomized) Not yet recruiting NCT04353180 Phase 3 Drug Isotretinoin (13 cis retinoic acid ) capsules+standard treatment;Isotretinoin(Aerosolized 13 cis retinoic acid) +standard treatment;Standard treatment
24 Effect of a Combination of Nitazoxanide, Ribavirin and Ivermectin Plus Zinc Supplement on the Clearance of COVID-19: a Pilot Sequential Clinical Trial Not yet recruiting NCT04392427 Phase 3 Treatment group: will receive a combination of Nitazoxanide, Ribavirin and Ivermectin for a duration of seven days :
25 Clinical Trial Evaluating Safety and Efficacy of Hydroxychloroquine and Nitazoxanide Combination as Adjuvant Therapy in Covid-19 Newly Diagnosed Egyptian Patients: A Tanta University Hope Not yet recruiting NCT04361318 Phase 2, Phase 3
26 Clinical Trial Evaluating Safety and Efficacy of Ivermectin and Nitazoxanide Combination as Adjuvant Therapy in COVID-19 Newly Diagnosed Egyptian Patients: A Tanta University Hope Not yet recruiting NCT04360356 Phase 2, Phase 3
27 A Phase 3 Randomized, Double-blind, Placebo-controlled Multicenter Study to Evaluate the Efficacy and Safety of Remdesivir in Hospitalized Adult Patients With Mild and Moderate COVID-19. Suspended NCT04252664 Phase 3 Remdesivir;Remdesivir placebo
28 Adaptive, Randomized, Single-blind, Three-arm Parallel Controlled Clinical Trial of Yinhu Qingwen Decoction in the Treatment of Mild / Common CoVID-19 Suspended NCT04278963 Phase 2, Phase 3 YinHu QingWen Decoction;YinHu QingWen Decoction(low dose)
29 An Adaptive, Randomized, Double-blind, Parallel-controlled Clinical Trial of Yinhu Qingwen Granula for the Treatment of Severe CoVID-19 Suspended NCT04310865 Phase 2, Phase 3 Yinhu Qingwen Granula;Yin Hu Qing Wen Granula(low does)
30 A Phase 3 Randomized, Double-blind, Placebo-controlled, Multicenter Study to Evaluate the Efficacy and Safety of Remdesivir in Hospitalized Adult Patients With Severe COVID-19. Terminated NCT04257656 Phase 3 Remdesivir;Remdesivir placebo
31 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) Completed NCT03721718 Phase 1, Phase 2
32 Using Systems Vaccinology to Elucidate the Effects of Anti-inflammatory Therapy on Immune Response After Vaccination With a Live Attenuated Vaccine Completed NCT03116802 Phase 2 Stamaril (live attenuated yellow fever vaccine)
33 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
34 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
35 Efficacy and Safety of Early Anti-SARS-COV-2 Convalescent Plasma in Patients Admitted for COVID-19 Infection: a Randomized Phase II Trial Recruiting NCT04375098 Phase 2
36 Effect of PVP-I Nasal Sprays vs Normal Saline Nasal Sprays on SARS-CoV-2 Nasopharyngeal Titers Recruiting NCT04347954 Phase 1, Phase 2 Povidone-Iodine 2%;Povidone-Iodine 0.5%;Isotonic saline 0.9%
37 A Phase 2, Randomized Clinical Trial to Evaluate the Efficacy and Safety of Human Anti-SARS-CoV-2 Convalescent Plasma in Severely Ill Adults With COVID-19 Recruiting NCT04359810 Phase 2
38 A Phase 2 Randomized, Double-blinded Trial to Evaluate the Efficacy and Safety of Human Anti- SARS-CoV-2 Plasma in Close Contacts of COVID-19 Cases Recruiting NCT04390503 Phase 2
39 An Open-label Randomized Controlled Trial on Interferon β-1b and Hydroxychloroquine Combination Versus Hydroxychloroquine Alone, as Treatment for COVID-19 Infection Recruiting NCT04350281 Phase 2 Interferon Beta-1B;Hydroxychloroquine
40 Colchicine to Counteract Inflammatory Response in COVID-19 Pneumonia Recruiting NCT04322565 Phase 2 Colchicine
41 Randomized Phase II Clinical Trial of Ruxolitinib Plus Simvastatin in the Prevention and Treatment of Respiratory Failure of COVID-19.Ruxo-Sim-20 Clinical Trial. Recruiting NCT04348695 Phase 2 Ruxolitinib plus simvastatin
42 A National Collaborative Multicenter Phase II Study for Potential Efficacy of Convalescent Plasma to Treat Severe COVID-19 and Patients at High Risk of Developing Severe COVID-19 Recruiting NCT04347681 Phase 2
43 A Phase 2 Study of COVID 19 Convalescent Plasma in High Risk Patients With COVID 19 Infection Recruiting NCT04392232 Phase 2 Convalescent Plasma
44 A Randomised Double-blind Placebo-controlled Trial to Determine the Safety and Efficacy of Inhaled SNG001 (IFN-β1a for Nebulisation) for the Treatment of Patients With Confirmed SARS-CoV-2 Infection Recruiting NCT04385095 Phase 2 Interferon beta 1a;Placebo
45 Povidone-Iodine Intranasal for Prophylaxis in Front-line Health-care Personnel and Inpatients During the Sars-CoV-2 Pandemic Recruiting NCT04364802 Phase 2 Povidone-Iodine Nasal Spray and Gargle;Povidone-Iodine Nasal Spray and Gargle
46 Effectiveness of Interleukin-6 Receptor Inhibitors in the Management of Patients With Severe SARS-CoV-2 Pneumonia: An Open-Label, Multicenter Sequential and Cluster Randomized Trial Recruiting NCT04322773 Phase 2 RoActemra iv;RoActemra sc;Kevzara sc
47 Prospective, Phase II, Randomized, Open-label, Parallel Group Study to Evaluate the Efficacy of Hydroxychloroquine Together With Baricitinib, Imatinib or Early Lopinavir / Ritonavir in Patients With SARS Cov2 Pneumonia Recruiting NCT04346147 Phase 2 Hidroxicloroquine;Lopinavir/ritonavir;Imatinib tablets;Baricitinib Oral Tablet
48 DETERMINATION OF THE DOSE AND EFFECTIVENESS OF CONVALESCENT PLASMA IN SEVERELY AND VERY SEVERELY ILL PATIENTS BY COVID-19 Recruiting NCT04356482 Phase 1, Phase 2
49 Hydroxychloroquine for Outpatients With Confirmed COVID-19 Recruiting NCT04342169 Phase 2 Hydroxychloroquine;Placebo oral tablet
50 Plasma From Covalescent Donors With Covid-19 for the Management of Patients With SARS-COV-2 Fase II and III, a Doble Center Randomized Doble Blind Trial Recruiting NCT04405310 Phase 2

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
Brain, Eye, Testes, Kidney, Lung, Neutrophil
Sources

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. 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
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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

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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
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
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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