You are using an outdated browser. Please upgrade your browser to improve your experience.
carnitine palmitoyl transferase II deficiency, myopathic form
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description 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.
Uniprot Description An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are exacerbated by prolonged exercise, fasting, cold, or viral infection. CPT2DM affects most frequently children or young adults, and severity of attacks is highly variable. Myoglobinuria can cause kidney failure and death.
Mondo Term and Equivalent IDs
MONDO:0009704: carnitine palmitoyl transferase II deficiency, myopathic form
Download Data for carnitine palmitoyl transferase II deficiency, myopathic form
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C563461
OMIM:255110
Orphanet:228302
UMLS:C1833508
MONDO:0009704
High level summary of knowledge for a disease, including descriptions and datasource references.