Bickerstaff brainstem encephalitis

disease
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Summary

Bickerstaff brainstem encephalitis (MONDO:0019208) is a disease. A subtype of postinfectious encephalitis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

  • Prevalence: Unknown (Worldwide)
  • Phenotypes (HPO): 47

Clinical features

Signs & symptoms

Clinical features (HPO)

47 HPO clinical features (Orphanet curated; top 47 by frequency):

HPO IDTermFrequency
HP:0000602OphthalmoplegiaVery frequent (80-99%)
HP:0001251AtaxiaVery frequent (80-99%)
HP:0001289ConfusionVery frequent (80-99%)
HP:0002329DrowsinessVery frequent (80-99%)
HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulationVery frequent (80-99%)
HP:0003431Decreased motor nerve conduction velocityVery frequent (80-99%)
HP:0007305CNS demyelinationVery frequent (80-99%)
HP:0032169Severe infectionVery frequent (80-99%)
HP:0000651DiplopiaFrequent (30-79%)
HP:0001284AreflexiaFrequent (30-79%)
HP:0002090PneumoniaFrequent (30-79%)
HP:0002094DyspneaFrequent (30-79%)
HP:0002270Abnormality of the autonomic nervous systemFrequent (30-79%)
HP:0002353EEG abnormalityFrequent (30-79%)
HP:0002922Increased CSF protein concentrationFrequent (30-79%)
HP:0003690Limb muscle weaknessFrequent (30-79%)
HP:0007131Acute demyelinating polyneuropathyFrequent (30-79%)
HP:0007209Facial paralysisFrequent (30-79%)
HP:0007256Abnormal pyramidal signFrequent (30-79%)
HP:0011947Respiratory tract infectionFrequent (30-79%)
HP:0012534DysesthesiaFrequent (30-79%)
HP:0012696Abnormal thalamic MRI signal intensityFrequent (30-79%)
HP:0030057Autoimmune antibody positivityFrequent (30-79%)
HP:0000496Abnormality of eye movementOccasional (5-29%)
HP:0000508PtosisOccasional (5-29%)
HP:0000639NystagmusOccasional (5-29%)
HP:0001259ComaOccasional (5-29%)
HP:0001283Bulbar palsyOccasional (5-29%)
HP:0001291Abnormal cranial nerve morphologyOccasional (5-29%)
HP:0001315Reduced tendon reflexesOccasional (5-29%)
HP:0001348Brisk reflexesOccasional (5-29%)
HP:0002273TetraparesisOccasional (5-29%)
HP:0002445TetraplegiaOccasional (5-29%)
HP:0002878Respiratory failureOccasional (5-29%)
HP:0003487Babinski signOccasional (5-29%)
HP:0004887Respiratory failure requiring assisted ventilationOccasional (5-29%)
HP:0009916AnisocoriaOccasional (5-29%)
HP:0010628Facial palsyOccasional (5-29%)
HP:0010831Impaired proprioceptionOccasional (5-29%)
HP:0010871Sensory ataxiaOccasional (5-29%)
HP:0011499MydriasisOccasional (5-29%)
HP:0012229CSF pleocytosisOccasional (5-29%)
HP:0012416HypercapniaOccasional (5-29%)
HP:0012531PainOccasional (5-29%)
HP:0030319Weakness of facial musculatureOccasional (5-29%)
HP:0031123Recurrent gastroenteritisOccasional (5-29%)
HP:0100786HypersomniaOccasional (5-29%)

Identifiers

Disease identifiers

FieldValue
Canonical nameBickerstaff brainstem encephalitis
Mondo IDMONDO:0019208
Orphanet79138
ICD-11163316971
SNOMED CT427086003
UMLSC1960543
MedGen743311
GARD0018944
Is cancer (heuristic)no

Disease family

This is a subtype of postinfectious encephalitis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › nervous system disordercentral nervous system disorderencephalomyelitisencephalitisinfectious encephalitispostinfectious encephalitisBickerstaff brainstem encephalitis

Related subtypes (6): limbic encephalitis with LGI1 antibodies, Rasmussen subacute encephalitis, acute disseminated encephalomyelitis, encephalitis lethargica, steroid-responsive encephalopathy associated with autoimmune thyroiditis, rubella encephalitis

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

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.