ODCs

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1 OMIM reference -
2 associated genes
No signs/symptoms info

COMMON GENES: 1

1 OMIM reference -
1 associated gene
8 signs/symptoms

Acute necrotizing encephalopathy of childhood

Carnitine palmitoyl transferase II deficiency, myopathic form

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

Citations in the biomedical literature:

Acute necrotizing encephalopathy of childhood		Carnitine palmitoyl transferase II deficiency, myopathic form
	Synonym(s): - ANEC - Isolated ANE - Isolated acute necrotizing encephalopathy		Synonym(s): - CPT2, adult-onset form - CPT2, myopathic form - CPTII, adult-onset form - CPTII, myopathic form - Carnitine palmitoyl transferase II deficiency, adult-onset form - Carnitine palmitoyl transferase deficiency type 2, adult-onset form - Carnitine palmitoyl transferase deficiency type 2, myopathic 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: unknown Average age onset: adolescence / young Average age of death: normal 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, myopathic form
	Very frequent - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Asthenia / fatigue / weakness - Autosomal recessive inheritance - Muscle anomalies - Muscle weakness / flaccidity - Myalgia / muscular pain - Myopathy Frequent - Renal failure
Acute necrotizing encephalopathy of childhood
(no data available)