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carnitine palmitoyl transferase II deficiency, severe infantile form
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.
Uniprot Description An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by hepatic or hepato-cardio-muscular manifestations with onset in infancy. Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy.
Mondo Term and Equivalent IDs
MONDO:0010914: carnitine palmitoyl transferase II deficiency, severe infantile form
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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:C563462
OMIM:600649
Orphanet:228305
UMLS:C1833511
MONDO:0010914
High level summary of knowledge for a disease, including descriptions and datasource references.