Encephalopathy, acute transient

Summary

Encephalopathy, acute transient (MONDO:0975801) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	encephalopathy, acute transient
Mondo ID	MONDO:0975801
OMIM	620950
UMLS	C5975397
MedGen	1874927
Is cancer (heuristic)	no

Data availability: 4 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › encephalopathy, acute transient

Related subtypes (70): leukoencephalopathy, megalencephalic, encephalopathy, acute, infection-induced, diabetic encephalopathy, complex cortical dysplasia with other brain malformations, hydrocephalus, brain compression, cerebral sarcoidosis, hepatic encephalopathy, visual pathway disorder, central nervous system origin vertigo, cerebellar disorder, cerebritis, olfactory nerve disorder, thalamic disorder, pituitary gland disorder, disorder of optic chiasm, basal ganglia disorder, epilepsy, mental disorder, central nervous system cyst, migraine disorder, multiple sclerosis, prion disease, carbon monoxide-induced delayed encephalopathy, cerebral malaria, akinetic mutism, bulbar polio, Reye syndrome, brain edema, encephalomalacia, intracranial hypertension, intracranial hypotension, Wernicke encephalopathy, encephalopathy, recurrent, of childhood, XK aprosencephaly, progressive bulbar palsy, cerebrovascular disorder, glycine encephalopathy, autosomal recessive frontotemporal pachygyria, occipital pachygyria and polymicrogyria, insomnia, narcolepsy-cataplexy syndrome, megalencephaly, meningoencephalocele, cerebral cortical dysplasia, encephaloclastic disorder, bilirubin encephalopathy, autoimmune encephalopathy with parasomnia and obstructive sleep apnea, narcolepsy without cataplexy, hypothalamic hamartomas with gelastic seizures, encephalitis, cerebral lipidosis with dementia, brain neoplasm, colpocephaly, corpus callosum agenesis of blepharophimosis robin type, corpus callosum dysgenesis X-linked recessive, corpus callosum dysgenesis cleft spasm, corpus callosum dysgenesis hypopituitarism, cerebral degeneration, acute bilirubin encephalopathy, chronic bilirubin encephalopathy, atelencephaly, aprosencephaly, brain injury, traumatic encephalopathy, cluster headache syndrome, cerebral cortex disorder, midbrain disorder, encephalopathy due to mitochondrial and peroxisomal fission defect, brain malformations with or without urinary tract defects

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

4 retrieved; paginated sample, class counts are floors:

4 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
3340125	NM_001348946.2(ABCB1):c.2380C>T (p.Arg794Ter)	ABCB1	Pathogenic	no assertion criteria provided
3340126	NM_000927.4:c.3053-3056del	ABCB1	Pathogenic	no assertion criteria provided
3340127	NM_001348946.2(ABCB1):c.2786+1G>T	ABCB1	Pathogenic	no assertion criteria provided
3340128	ABCB1, GLN1182TER	ABCB1	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

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

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
ABCB1	HGNC:40	ENSG00000085563	P08183	ATP-dependent translocase ABCB1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ABCB1	ATP-dependent translocase ABCB1	Translocates drugs and phospholipids across the membrane.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Transporter	1	77.8×	0.013

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ABCB1	Transporter	yes	7.6.2.2	ABC_transporter-like_ATP-bd, AAA+_ATPase, ABC1_TM_dom

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
left adrenal gland cortex	1
right adrenal gland	1
right adrenal gland cortex	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ABCB1	232	broad	marker	right adrenal gland, right adrenal gland cortex, left adrenal gland cortex

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ABCB1	4,426

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ABCB1	P08183	24

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 7. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways 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.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Abacavir transmembrane transport	1	2284.0×	0.001	ABCB1
Abacavir ADME	1	1427.5×	0.001	ABCB1
Atorvastatin ADME	1	1427.5×	0.001	ABCB1
Prednisone ADME	1	1268.9×	0.001	ABCB1
Drug ADME	1	228.4×	0.006	ABCB1
ABC-family protein mediated transport	1	121.5×	0.010	ABCB1
Transport of small molecules	1	25.1×	0.040	ABCB1

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
daunorubicin transport	1	16852.0×	4e-04	ABCB1
terpenoid transport	1	16852.0×	4e-04	ABCB1
cellular response to nonylphenol	1	16852.0×	4e-04	ABCB1
positive regulation of establishment of Sertoli cell barrier	1	16852.0×	4e-04	ABCB1
cellular response to borneol	1	16852.0×	4e-04	ABCB1
response to codeine	1	16852.0×	4e-04	ABCB1
positive regulation of response to drug	1	16852.0×	4e-04	ABCB1
hormone transport	1	8426.0×	4e-04	ABCB1
cellular response to mycotoxin	1	8426.0×	4e-04	ABCB1
cellular response to external biotic stimulus	1	8426.0×	4e-04	ABCB1
response to antineoplastic agent	1	8426.0×	4e-04	ABCB1
ceramide translocation	1	8426.0×	4e-04	ABCB1
regulation of intestinal absorption	1	8426.0×	4e-04	ABCB1
response to quercetin	1	8426.0×	4e-04	ABCB1
response to cyclosporin A	1	8426.0×	4e-04	ABCB1
response to thyroxine	1	5617.3×	6e-04	ABCB1
negative regulation of sensory perception of pain	1	4213.0×	7e-04	ABCB1
regulation of chloride transport	1	4213.0×	7e-04	ABCB1
cellular response to alkaloid	1	3370.4×	8e-04	ABCB1
cellular hyperosmotic salinity response	1	2808.7×	8e-04	ABCB1
protein localization to bicellular tight junction	1	2808.7×	8e-04	ABCB1
carboxylic acid transmembrane transport	1	2808.7×	8e-04	ABCB1
xenobiotic transport across blood-brain barrier	1	2808.7×	8e-04	ABCB1
establishment of blood-retinal barrier	1	2808.7×	8e-04	ABCB1
cellular response to antibiotic	1	2407.4×	9e-04	ABCB1
response to glycoside	1	2407.4×	9e-04	ABCB1
response to glucagon	1	1685.2×	0.001	ABCB1
export across plasma membrane	1	1685.2×	0.001	ABCB1
cellular response to L-glutamate	1	1685.2×	0.001	ABCB1
response to alcohol	1	1532.0×	0.001	ABCB1

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
ABCB1	PROGESTERONE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ABCB1	119	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
PROGESTERONE	4	ABCB1
CLOTRIMAZOLE	4	ABCB1
SIMVASTATIN	4	ABCB1
ARIPIPRAZOLE	4	ABCB1
SAQUINAVIR	4	ABCB1
ATAZANAVIR	4	ABCB1
DESLORATADINE	4	ABCB1
SERTINDOLE	4	ABCB1
CLOFAZIMINE	4	ABCB1
QUINIDINE	4	ABCB1
DARUNAVIR	4	ABCB1
SPIRONOLACTONE	4	ABCB1
PIMOZIDE	4	ABCB1
FELODIPINE	4	ABCB1
NICARDIPINE	4	ABCB1
AMLODIPINE	4	ABCB1
PANTOPRAZOLE	4	ABCB1
OMEPRAZOLE	4	ABCB1
KETOCONAZOLE	4	ABCB1
VINBLASTINE	4	ABCB1
CYCLOSPORINE	4	ABCB1
RITONAVIR	4	ABCB1
QUININE	4	ABCB1
TERFENADINE	4	ABCB1
NISOLDIPINE	4	ABCB1
CLARITHROMYCIN	4	ABCB1
DAUNORUBICIN	4	ABCB1
TRAMETINIB	4	ABCB1
DILTIAZEM	4	ABCB1
CERITINIB	4	ABCB1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
ABCB1	3,063	Binding:2135, Functional:746, ADMET:182

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
ABCB1	7.6.2.2, 7.6.2.3	ABC-type xenobiotic transporter, ABC-type glutathione-S-conjugate transporter

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
ABCB1	3,063

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

30 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.

Compound	Max phase	Cohort target (bioactivity)
PROGESTERONE	4	ABCB1
CLOTRIMAZOLE	4	ABCB1
SIMVASTATIN	4	ABCB1
ARIPIPRAZOLE	4	ABCB1
SAQUINAVIR	4	ABCB1
ATAZANAVIR	4	ABCB1
DESLORATADINE	4	ABCB1
SERTINDOLE	4	ABCB1
CLOFAZIMINE	4	ABCB1
QUINIDINE	4	ABCB1
DARUNAVIR	4	ABCB1
SPIRONOLACTONE	4	ABCB1
PIMOZIDE	4	ABCB1
FELODIPINE	4	ABCB1
NICARDIPINE	4	ABCB1
AMLODIPINE	4	ABCB1
PANTOPRAZOLE	4	ABCB1
OMEPRAZOLE	4	ABCB1
KETOCONAZOLE	4	ABCB1
VINBLASTINE	4	ABCB1
CYCLOSPORINE	4	ABCB1
RITONAVIR	4	ABCB1
QUININE	4	ABCB1
TERFENADINE	4	ABCB1
NISOLDIPINE	4	ABCB1
CLARITHROMYCIN	4	ABCB1
DAUNORUBICIN	4	ABCB1
TRAMETINIB	4	ABCB1
DILTIAZEM	4	ABCB1
CERITINIB	4	ABCB1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	ABCB1
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	0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 0.