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Acute necrotizing encephalopathy of childhood
1 OMIM reference -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
Carnitine palmitoyl transferase II deficiency, severe infantile form
1 OMIM reference -
1 associated gene
9 signs/symptoms
Acute necrotizing encephalopathy of childhood
Carnitine palmitoyl transferase II deficiency, severe infantile form

CPT2
(UniProt - OMIM)
 CPT2
(UniProt - OMIM)
RANBP2
(UniProt - OMIM)

COMMON
GENES 		CPT2


Citations in the biomedical literature:


Acute necrotizing encephalopathy of childhood
CPT2 RANBP2
Carnitine palmitoyl transferase II deficiency, severe infantile form



Acute necrotizing encephalopathy of childhood
Carnitine palmitoyl transferase II deficiency, severe infantile form

Synonym(s):
- ANEC
- Isolated ANE
- Isolated acute necrotizing encephalopathy
Synonym(s):
- CPT2, hepatocardiomuscular form
- CPT2, severe infantile form
- CPTII, hepatocardiomuscular form
- CPTII, severe infantile form
- Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form
- Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form
- Carnitine palmitoyl transferase deficiency type 2, severe infantile form
Classification (Orphanet):
- Rare infectious disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Carnitine palmitoyl transferase II deficiency, severe infantile form

Very frequent
- Cardiomyopathy / hypertrophic / dilated
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypoglycemia

Frequent
- Cardiac rhythm disorder / arrhythmia
- Myopathy
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Death in infancy
- Hepatocellular liver disease / hepatic failure


Acute necrotizing encephalopathy of childhood

(no data available)