Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8

Preferred Label : Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8;

Symbol : IIAE8;

CISMeF acronym : IIAE8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Herpes simplex encephalitis, susceptibility to, 6;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the TANK-binding kinase 1 gene (TBK1, 604834.0008);

Prefixed ID : #617900;

Details

Origin ID

617900;

UMLS CUI

C4693542;

Genes related to phenotype
- Tank-binding kinase 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Confusion [HPO term]
- EEG abnormality [HPO term]
- Hemiparesis [HPO term]
- Herpes simplex encephalitis [HPO term]
- Incomplete penetrance [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Lethargy [HPO term]
- Meningitis [HPO term]
- Mental deterioration [HPO term]
- Middle age onset [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Herpes simplex virus encephalitis [ORDO Disease]
See also inter- (CISMeF)
- Herpes simplex virus encephalitis [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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