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Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7(IIAE7)

MedGen UID:
901850
Concept ID:
C4225294
Finding
Synonym: IIAE7
 
Gene (location): IRF3 (19q13.33)
 
Monarch Initiative: MONDO:0014680
OMIM®: 616532

Definition

A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the IRF3 gene. [from MONDO]

Clinical features

From HPO
Headache
MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
CSF lymphocytic pleiocytosis
MedGen UID:
140894
Concept ID:
C0427877
Laboratory or Test Result
An increased lymphocyte count in the cerebrospinal fluid.
Herpes simplex encephalitis
MedGen UID:
75794
Concept ID:
C0276226
Disease or Syndrome
Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction.
Nuchal rigidity
MedGen UID:
272101
Concept ID:
C1320474
Finding
Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated.

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