Phenotypes associated with the disease Japanese encephalitis (ORPHA:79139):
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79139)
- EEG abnormality (HP:0002353): Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79139)
- Infectious encephalitis (HP:0002383): A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79139)
- Facial grimacing (HP:0000273). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Mask-like facies (HP:0000298): A lack of facial expression often with staring eyes and a slightly open mouth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Anorexia (HP:0002039): Lack of desire to eat (loss of appetite). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Bilateral tonic-clonic seizure (HP:0002069): A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Cogwheel rigidity (HP:0002396): A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Increased intracranial pressure (HP:0002516): An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Increased CSF protein concentration (HP:0002922): Increased concentration of protein in the cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Decreased motor nerve conduction velocity (HP:0003431): A type of decreased nerve conduction velocity that affects the motor neuron. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- EMG: chronic denervation signs (HP:0003444): Evidence of chronic denervation on electromyography. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Paralysis (HP:0003470): Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Increased circulating IgM concentration (HP:0003496): An abnormally increased level of immunoglobulin M in blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Functional motor deficit (HP:0004302). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Reduced consciousness (HP:0004372): Abnormally diminished level of attention, responsiveness, or wakefulness. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Paucity of anterior horn motor neurons (HP:0007277). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Distal lower limb muscle weakness (HP:0009053): Reduced strength of the distal musculature of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Weakness due to upper motor neuron dysfunction (HP:0010549): Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Increased circulating immunoglobulin concentration (HP:0010702): An increased level of gamma globulin (immunoglobulin) in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Increased total neutrophil count (HP:0011897): Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- CSF pleocytosis (HP:0012229): An increased white blood cell count in the cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Focal T2 hyperintense thalamic lesion (HP:0012692): A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Chills (HP:0025143): A sudden sensation of feeling cold. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Hyperintensity of MRI T2 signal of the spinal cord (HP:0040272): A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- CSF lymphocytic pleiocytosis (HP:0200149): An increased lymphocyte count in the cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79139)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Coma (HP:0001259): The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Choreoathetosis (HP:0001266): Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Hypertonia (HP:0001276): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Dystonia (HP:0001332): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Myoclonus (HP:0001336): Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Abnormal cerebral morphology (HP:0002060): Any structural abnormality of the telencephalon, which is also known as the cerebrum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Abnormality of extrapyramidal motor function (HP:0002071): A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Status epilepticus (HP:0002133): Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Opisthotonus (HP:0002179): Opisthotonus is defined as a dramatic abnormal posture due to spastic contraction of the extensor muscles of the neck, trunk, and lower extremities that produces a severe backward arching from neck to heel. In most cases, the trunk is elevated off the ground by a few inches. It is usually sudden in onset and can be sustained or repetitive. It can be considered a variant of decerebrate posturing involving a hyperextension of the neck, back, and limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Cerebral edema (HP:0002181): Abnormal accumulation of fluid in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Respiratory paralysis (HP:0002203): Inability to move the muscles of respiration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Abnormal caudate nucleus morphology (HP:0002339): Any structural abnormality of the caudate nucleus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Abnormal midbrain morphology (HP:0002418): An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Language impairment (HP:0002463): Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Abnormal pattern of respiration (HP:0002793): An anomaly of the rhythm or depth of breathing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Genu recurvatum (HP:0002816): An abnormally increased extension of the knee joint, so that the knee can bend backwards. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Elbow flexion contracture (HP:0002987): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Excessive salivation (HP:0003781): Excessive production of saliva. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Abnormal pons morphology (HP:0007361): A structural abnormality of the pons. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Abnormal pupillary light reflex (HP:0007695): An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Limited extraocular movements (HP:0007941): Limited mobility of the eye within its socket. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Distal upper limb muscle weakness (HP:0008959): Reduced strength of the distal musculature of the arms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Opsoclonus (HP:0010543): Bursts of large-amplitude multidirectional saccades without intersaccadic interval. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Muscle fibrillation (HP:0010546): Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole as ascertained by electromyography (EMG). If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Muscle flaccidity (HP:0010547): A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Facial palsy (HP:0010628): Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Abnormal thalamus morphology (HP:0010663): An abnormality of the thalamus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- EEG with burst suppression (HP:0010851): The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Severe intellectual disability (HP:0010864): Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Focal motor seizure (HP:0011153): A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Interictal epileptiform activity (HP:0011182): Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Facial tics (HP:0011468): Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Irregular respiration (HP:0012195): Uneven rhythm of breathing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Abnormality of the internal capsule (HP:0012502): An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Rigors (HP:0025145): Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Stiff neck (HP:0025258): A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Pill-rolling tremor (HP:0025387): A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Eyelid fasciculation (HP:0030826): Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Inappropriate antidiuretic hormone secretion (HP:0031218): A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Abnormal substantia nigra morphology (HP:0045007): A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)
- Pulmonary edema (HP:0100598): Fluid accumulation in the lungs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79139)