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IIAE4
MCID: ENC056
MIFTS: 38
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Encephalopathy, Acute, Infection-Induced 4 (IIAE4)
Categories:
Genetic diseases, Infectious diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Encephalopathy, Acute, Infection-Induced 4:
Name: Encephalopathy, Acute, Infection-Induced 4
57
Characteristics:Orphanet epidemiological data:59
acute necrotizing encephalopathy of childhood
Inheritance: Not applicable; Age of onset: Childhood; OMIM:57
Inheritance:
autosomal recessive autosomal dominant
Miscellaneous:
usually affects children increased frequency among japanese and chinese HPO:32
encephalopathy, acute, infection-induced 4:
Inheritance autosomal recessive inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Infectious diseases Rare diseases Anatomical: Neuronal diseases
ICD10:
34
33
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OMIM
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57
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).
For a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see 610551. (614212)
MalaCards based summary : Encephalopathy, Acute, Infection-Induced 4, also known as encephalopathy, acute, infection-induced, 4, susceptibility to, is related to viral encephalitis and acth deficiency, isolated. An important gene associated with Encephalopathy, Acute, Infection-Induced 4 is CPT2 (Carnitine Palmitoyltransferase 2). Affiliated tissues include brain and spinal cord, and related phenotypes are seizures and fever UniProtKB/Swiss-Prot : 75 Encephalopathy, acute, infection-induced, 4: A severe neurologic complication of an infection. It manifests within days in otherwise healthy children after common viral infections, without evidence of viral infection of the brain or inflammatory cell infiltration. In affected children, high-grade fever is 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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614212Human phenotypes related to Encephalopathy, Acute, Infection-Induced 4:32
GenomeRNAi Phenotypes related to Encephalopathy, Acute, Infection-Induced 4 according to GeneCards Suite gene sharing:26
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Cochrane evidence based reviews: encephalitis, viral |
MalaCards organs/tissues related to Encephalopathy, Acute, Infection-Induced 4:41
Brain,
Spinal Cord
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Articles related to Encephalopathy, Acute, Infection-Induced 4:(show all 21)
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Genes related to Encephalopathy, Acute, Infection-Induced 4 (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Encephalopathy, Acute, Infection-Induced 4:6
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Search
GEO
for disease gene expression data for Encephalopathy, Acute, Infection-Induced 4.
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Cellular components related to Encephalopathy, Acute, Infection-Induced 4 according to GeneCards Suite gene sharing:
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