MERS
MCID: ENC065
MIFTS: 20

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

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


Classifications:



External Ids:

OMIM 57 618113

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 encephalitis/encephalopathy, mild, with reversible splenial lesion; mers, is related to severe acute respiratory syndrome and encephalopathy. An important gene associated with Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization is MYRF (Myelin Regulatory Factor). Affiliated tissues include brain, eye and lung.

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 58)
# Related Disease Score Top Affiliating Genes
1 severe acute respiratory syndrome 10.5
2 encephalopathy 10.3
3 encephalitis 10.3
4 influenza 10.2
5 leukemia 10.1
6 pneumonia 10.1
7 leukemia, acute lymphoblastic 10.1
8 lymphocytic leukemia 10.1
9 systemic lupus erythematosus 10.0
10 prostate cancer 10.0
11 lupus erythematosus 10.0
12 small cell cancer of the lung 9.9
13 lung cancer 9.9
14 leukemia, acute myeloid 9.9
15 kawasaki disease 9.9
16 sclerosing cholangitis, neonatal 9.9
17 mumps 9.9
18 fundus dystrophy 9.9
19 myeloid leukemia 9.9
20 glioblastoma 9.9
21 adamantinoma of long bones 9.8
22 colorectal cancer 9.8
23 glioma susceptibility 1 9.8
24 myeloma, multiple 9.8
25 osteogenic sarcoma 9.8
26 dengue virus 9.8
27 graft-versus-host disease 9.8
28 autoimmune hepatitis 9.8
29 hepatitis 9.8
30 liver disease 9.8
31 mantle cell lymphoma 9.8
32 lymphoma 9.8
33 pontocerebellar hypoplasia 9.8
34 thrombosis 9.8
35 viral pneumonia 9.8
36 sarcoma 9.8
37 respiratory failure 9.8
38 hemolytic-uremic syndrome 9.8
39 coccidioidomycosis 9.8
40 papilledema 9.8
41 histoplasmosis 9.8
42 orchitis 9.8
43 glioblastoma multiforme 9.8
44 astrocytoma 9.8
45 vaccinia 9.8
46 plague 9.8
47 ebola hemorrhagic fever 9.8
48 avian influenza 9.8
49 poliomyelitis 9.8
50 acute t cell leukemia 9.8

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...

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...

Search Clinical Trials , 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, Lung, Liver, Prostate, T Cells, Myeloid

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

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 Assembly Location
1 MYRF NM_001127392.2(MYRF): c.1208A> G (p.Gln403Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 61774059: 61774059
2 MYRF NM_001127392.2(MYRF): c.1208A> G (p.Gln403Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 61541531: 61541531

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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