Encephalopathy, acute, infection-induced, susceptibility to, 4

Preferred Label : Encephalopathy, acute, infection-induced, susceptibility to, 4;

Symbol : IIAE4;

CISMeF acronym : IIAE4;

Type : Phenotype, molecular basis known;

Description : Acute encephalopathy is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder (summary by Chen et al., 2005; Shinohara et al., 2011).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Susceptibility conferred by mutation in the carnitine palmitoyltransferase II gene (CPT2, 600650.0018);

Laboratory abnormalities : Increased serum acylcarnitine during febrile crisis; Serum acylcarnitine returns to borderline high or normal after resolution of fever;

Prefixed ID : #614212;

Details

Origin ID

614212;

UMLS CUI

C3280160;

Genes related to phenotype
- Carnitine palmitoyltransferase II [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral edema [HPO term]
- Coma [HPO term]
- Encephalopathy [HPO term]
- Fever [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Acute necrotizing encephalopathy of childhood [ORDO Disease]
See also inter- (CISMeF)
- Acute necrotizing encephalopathy of childhood [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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