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Carnitine palmitoyl transferase II deficiency, myopathic form
1 OMIM reference -
1 associated gene
3 connected diseases
8 signs/symptoms
Disease Type of connection
Acute necrotizing encephalopathy of childhood
Carnitine palmitoyl transferase II deficiency, neonatal form
Carnitine palmitoyl transferase II deficiency, severe infantile form
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):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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
Gene symbol UniProt reference OMIM reference
CPT2 P23786600650
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