Encephalitis/encephalopathy, mild, with reversible myelin vacuolization

Summary

Encephalitis/encephalopathy, mild, with reversible myelin vacuolization (MONDO:0020853) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 16

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	encephalitis/encephalopathy, mild, with reversible myelin vacuolization
Mondo ID	MONDO:0020853
OMIM	618113
UMLS	C4722446
MedGen	1648328
Is cancer (heuristic)	no

Also known as: encephalitis/encephalopathy, mild, with reversible myelin vacuolization · Encephalitis/encephalopathy, mild, with reversible splenial lesion · MMERV

Data availability: 16 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › Mendelian encephalopathy › encephalitis/encephalopathy, mild, with reversible myelin vacuolization

Related subtypes (18): encephalopathy, recurrent, of childhood, encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts, Bonnemann-Meinecke-Reich syndrome, severe neonatal-onset encephalopathy with microcephaly, ethylmalonic encephalopathy, familial encephalopathy with neuroserpin inclusion bodies, spongiform encephalopathy with neuropsychiatric features, familial acute necrotizing encephalopathy, encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, severe neurodegenerative syndrome with lipodystrophy, encephalopathy due to defective mitochondrial and peroxisomal fission 2, encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, encephalopathy, progressive, with amyotrophy and optic atrophy, encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, encephalopathy, porphyria-related

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

16 retrieved; paginated sample, class counts are floors:

12 uncertain significance, 2 pathogenic, 1 likely pathogenic, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
2441925	NM_001127392.3(MYRF):c.1543C>T (p.Gln515Ter)	MYRF	Pathogenic	criteria provided, single submitter
560883	NM_001127392.3(MYRF):c.1208A>G (p.Gln403Arg)	MYRF	Pathogenic	no assertion criteria provided
4540456	NM_001127392.3(MYRF):c.1048del (p.Ser350fs)	MYRF	Likely pathogenic	criteria provided, single submitter
996604	NM_001127392.3(MYRF):c.2036T>C (p.Val679Ala)	MYRF	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1027689	NM_001127392.3(MYRF):c.463C>T (p.Pro155Ser)	MYRF	Uncertain significance	criteria provided, single submitter
1696488	NM_001127392.3(MYRF):c.2764+3A>G	MYRF	Uncertain significance	criteria provided, single submitter
1696610	NM_001127392.3(MYRF):c.385C>T (p.Pro129Ser)	MYRF	Uncertain significance	criteria provided, single submitter
2441779	NM_001127392.3(MYRF):c.2416G>A (p.Val806Met)	MYRF	Uncertain significance	criteria provided, single submitter
2442165	NM_001127392.3(MYRF):c.3301-13C>T	MYRF	Uncertain significance	criteria provided, single submitter
2486986	NM_001127392.3(MYRF):c.3001G>T (p.Ala1001Ser)	MYRF	Uncertain significance	criteria provided, multiple submitters, no conflicts
2553696	NM_001127392.3(MYRF):c.1261G>A (p.Glu421Lys)	MYRF	Uncertain significance	criteria provided, multiple submitters, no conflicts
2582568	NM_001127392.3(MYRF):c.2072A>T (p.Asn691Ile)	MYRF	Uncertain significance	criteria provided, single submitter
3891799	NM_001127392.3(MYRF):c.2947C>G (p.Arg983Gly)	MYRF	Uncertain significance	criteria provided, single submitter
3891800	NM_001127392.3(MYRF):c.448C>A (p.Gln150Lys)	MYRF	Uncertain significance	criteria provided, single submitter
977397	NM_001127392.3(MYRF):c.1420G>A (p.Val474Met)	MYRF	Uncertain significance	criteria provided, single submitter
992806	NM_001127392.3(MYRF):c.2674A>G (p.Thr892Ala)	MYRF	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 7 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
MYRF	Limited	Autosomal dominant	encephalitis/encephalopathy, mild, with reversible myelin vacuolization	7

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MYRF	Orphanet:647811	Cardiac-urogenital syndrome

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MYRF	HGNC:1181	ENSG00000124920	Q9Y2G1	Myelin regulatory factor	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MYRF	Myelin regulatory factor	Constitutes a precursor of the transcription factor.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MYRF	Transcription factor	no		p53-like_TF_DNA-bd_sf, NDT80_DNA-bd_dom, MYRF_C2

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
C1 segment of cervical spinal cord	1
inferior vagus X ganglion	1
middle frontal gyrus	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MYRF	223	ubiquitous	marker	middle frontal gyrus, C1 segment of cervical spinal cord, inferior vagus X ganglion

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MYRF	979

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MYRF	Q9Y2G1	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
central nervous system myelin maintenance	1	2808.7×	0.002	MYRF
central nervous system myelination	1	991.3×	0.002	MYRF
positive regulation of myelination	1	766.0×	0.002	MYRF
response to immobilization stress	1	732.7×	0.002	MYRF
positive regulation of oligodendrocyte differentiation	1	674.1×	0.002	MYRF
protein autoprocessing	1	648.1×	0.002	MYRF
oligodendrocyte development	1	601.9×	0.002	MYRF
response to cocaine	1	581.1×	0.002	MYRF
oligodendrocyte differentiation	1	421.3×	0.003	MYRF
positive regulation of DNA-templated transcription	1	27.9×	0.036	MYRF

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MYRF	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	MYRF

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
MYRF	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.