Details of Disease

General Information of Disease (ID: DISREITG)

Disease Name Encephalopathy, acute, infection-induced, susceptibility to, 4
Synonyms
IIAE4; encephalopathy, acute, infection-induced, 4, susceptibility to; encephalopathy, acute, infection-induced, susceptibility to, 4; encephalopathy, acute, infection-induced caused by mutation in CPT2; encephalopathy, acute, infection-induced, susceptibility to, type 4; CPT2 encephalopathy, acute, infection-induced
Definition Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene.
Disease Hierarchy
DISWHADJ: Encephalitis, acute, infection-induced, susceptibility to
DIS98MYE: Inherited disease susceptibility
DISREITG: Encephalopathy, acute, infection-induced, susceptibility to, 4
Disease Identifiers
MONDO ID
MONDO_0013633
UMLS CUI
C3280160
OMIM ID
614212
MedGen ID
481790

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CPT2 OTIN6G20 Limited Unknown [1]
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References

1 A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene. Mol Genet Metab. 2000 Jun;70(2):134-41. doi: 10.1006/mgme.2000.3009.