Immunodeficiency 83, susceptibility to viral infections

Preferred Label : Immunodeficiency 83, susceptibility to viral infections;

Symbol : IMD83;

CISMeF acronym : IIAE2;

Type : Phenotype, molecular basis known;

Included titles and symbols : Herpes simplex encephalitis, susceptibility to, 2; IIAE2; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2; Pneumonitis, infection (viral)-induced, susceptibility to;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the Toll-like receptor 3 gene (TLR3, 603029.0001);

Prefixed ID : #613002;

Details

Origin ID

613002;

UMLS CUI

C2751803;

Genes related to phenotype
- Toll-like receptor 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Confusion [HPO term]
- EEG abnormality [HPO term]
- Gliosis [HPO term]
- Hemiparesis [HPO term]
- Herpes simplex encephalitis [HPO term]
- Incomplete penetrance [HPO term]
- Intellectual disability [HPO term]
- Lethargy [HPO term]
- Meningitis [HPO term]
- Mental deterioration [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Herpes simplex virus encephalitis [ORDO Disease]
See also inter- (CISMeF)
- TLR3 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Herpes simplex virus encephalitis [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients