Details of Disease

General Information of Disease (ID: DISM67PB)

• Disease Name: Carnitine palmitoyl transferase II deficiency, myopathic form
• Synonyms: Carnitine Palmitoyltransferase 2 deficiency, myopathic; Cpt2 deficiency, late-onset; Carnitine Palmitoyltransferase 2 deficiency, myopathic, stress-induced; CPT 2 deficiency, myopathic; Carnitine Palmitoyltransferase 2 deficiency, adult-onset; CARNITINE PALMITOYLTRANSFERASE II deficiency, myopathic, stress-induced; CARNITINE PALMITOYLTRANSFERASE II deficiency, late-onset; Carnitine palmitoyl transferase deficiency type 2, myopathic form; CPTII, myopathic form; CPT II deficiency, myopathic, stress-induced; CPT2, myopathic form; CPT2, adult-onset form; Carnitine palmitoyl transferase deficiency type 2, adult-onset form; Carnitine palmitoyl transferase II deficiency, adult-onset form; CPTII, adult-onset form; carnitine palmitoyl transferase II deficiency, myopathic form
• Definition: The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency.
• Disease Hierarchy:
  DIS3GFD9: Carnitine palmitoyltransferase II deficiency
  DISM67PB: Carnitine palmitoyl transferase II deficiency, myopathic form
• Disease Identifiers:
  MONDO ID: MONDO_0009704
  MESH ID: C563461
  UMLS CUI: C1833508
  OMIM ID: 255110
  MedGen ID: 371584
  Orphanet ID: 228302

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CPT2	OTIN6G20	Strong	Autosomal recessive	[1]

References

• [1] PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.