MMERV
MCID: ENC065
MIFTS: 21

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 58 76 6 41
Mmerv 58 76
Encephalitis/encephalopathy, Mild, with Reversible Splenial Lesion; Mers 58
Encephalitis/encephalopathy, Mild, with Reversible Splenial Lesion 58
Mers 58

Characteristics:

OMIM:

58
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 58 618113
MeSH 45 D004660
MedGen 43 CN253827

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

OMIM : 58 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 encephalopathy. An important gene associated with Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization is MYRF (Myelin Regulatory Factor). Affiliated tissues include brain and eye.

UniProtKB/Swiss-Prot : 76 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 73)
# Related Disease Score Top Affiliating Genes
1 severe acute respiratory syndrome 10.5
2 encephalopathy 10.4
3 leukemia 10.3
4 encephalitis 10.3
5 influenza 10.2
6 pneumonia 10.1
7 leukemia, acute myeloid 10.1
8 leukemia, acute lymphoblastic 10.1
9 lymphocytic leukemia 10.1
10 myeloid leukemia 10.1
11 systemic lupus erythematosus 10.0
12 prostate cancer 10.0
13 prostate cancer, hereditary, 8 10.0
14 prostate cancer, hereditary, 6 10.0
15 lupus erythematosus 10.0
16 acute respiratory distress syndrome 10.0
17 glioblastoma 10.0
18 glioma susceptibility 1 9.9
19 small cell cancer of the lung 9.9
20 lung cancer 9.9
21 kawasaki disease 9.9
22 sclerosing cholangitis, neonatal 9.9
23 mumps 9.9
24 glioblastoma multiforme 9.9
25 fundus dystrophy 9.9
26 colorectal cancer 9.8
27 rheumatoid arthritis 9.8
28 myeloma, multiple 9.8
29 neuroblastoma 9.8
30 osteogenic sarcoma 9.8
31 pulmonary disease, chronic obstructive 9.8
32 human immunodeficiency virus type 1 9.8
33 intraocular pressure quantitative trait locus 9.8
34 dengue virus 9.8
35 graft-versus-host disease 9.8
36 arthritis 9.8
37 autoimmune hepatitis 9.8
38 hepatitis 9.8
39 liver disease 9.8
40 mantle cell lymphoma 9.8
41 small cell carcinoma 9.8
42 lymphoma 9.8
43 pontocerebellar hypoplasia 9.8
44 thrombosis 9.8
45 viral pneumonia 9.8
46 sarcoma 9.8
47 respiratory failure 9.8
48 hemolytic-uremic syndrome 9.8
49 diarrhea 9.8
50 coccidioidomycosis 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:

58
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:

42
Brain, Eye

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

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

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

76
# Symbol AA change Variation ID SNP ID
1 MYRF p.Gln403Arg VAR_081183

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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