HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 4

General Information (adopted from Orphanet):

Synonyms, Signs: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 6
IIAE6
Number of Symptoms 3
OrphanetNr:
OMIM Id: 614850
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012302) Herpes simplex encephalitis 4 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sancho-Shimizu et al. (2011) reported 2 unrelated patients from Saudi Arabia and Europe with HSE resulting from autosomal recessive or autosomal dominant TRIF deficiency. Both patients presented at around 2 years of age with persistent high fever, and ...
Molecular genetics OMIM Sancho-Shimizu et al. (2011) identified causative mutations in the TRIF gene in 2 unrelated patients with HSE. The first patient, a Saudi Arabian boy with autosomal recessive HSE susceptibility, had a homozygous nonsense mutation (R141X; 607601.0001) that resulted ...